A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.
A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.
Members of the beta-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 11. They include epsilon-globin, gamma-globin, delta-globin and beta-globin. There is also a pseudogene of beta (theta-beta) in the gene cluster. Adult HEMOGLOBIN is comprised of two ALPHA-GLOBIN chains and two beta-globin chains.
Immature ERYTHROCYTES. In humans, these are ERYTHROID CELLS that have just undergone extrusion of their CELL NUCLEUS. They still contain some organelles that gradually decrease in number as the cells mature. RIBOSOMES are last to disappear. Certain staining techniques cause components of the ribosomes to precipitate into characteristic "reticulum" (not the same as the ENDOPLASMIC RETICULUM), hence the name reticulocytes.
A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood.
A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent.
Members of the alpha-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 16. They include zeta-globin and alpha-globin. There are also pseudogenes of zeta (theta-zeta) and alpha (theta-alpha) in the cluster. Adult HEMOGLOBIN is comprised of 2 alpha-globin chains and 2 beta-globin chains.
A regulatory region first identified in the human beta-globin locus but subsequently found in other loci. The region is believed to regulate GENETIC TRANSCRIPTION by opening and remodeling CHROMATIN structure. It may also have enhancer activity.
Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.
A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.
The major component of hemoglobin in the fetus. This HEMOGLOBIN has two alpha and two gamma polypeptide subunits in comparison to normal adult hemoglobin, which has two alpha and two beta polypeptide subunits. Fetal hemoglobin concentrations can be elevated (usually above 0.5%) in children and adults affected by LEUKEMIA and several types of ANEMIA.
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
An abnormal hemoglobin resulting from the substitution of valine for glutamic acid at position 6 of the beta chain of the globin moiety. The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
An adult hemoglobin component normally present in hemolysates from human erythrocytes in concentrations of about 3%. The hemoglobin is composed of two alpha chains and two delta chains. The percentage of HbA2 varies in some hematologic disorders, but is about double in beta-thalassemia.
An interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein. Proteolytic processing of the precursor form by CASPASE 1 results in release of the active form of interleukin-1beta from the membrane.
Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)
The oxygen-carrying proteins of ERYTHROCYTES. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements.
Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.
Chloro(7,12-diethenyl-3,8,13,17-tetramethyl-21H,23H-porphine-2,18-dipropanoato(4-)-N(21),N(22),N(23),N(24)) ferrate(2-) dihydrogen.
A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
An 11-kDa protein associated with the outer membrane of many cells including lymphocytes. It is the small subunit of the MHC class I molecule. Association with beta 2-microglobulin is generally required for the transport of class I heavy chains from the endoplasmic reticulum to the cell surface. Beta 2-microglobulin is present in small amounts in serum, csf, and urine of normal people, and to a much greater degree in the urine and plasma of patients with tubular proteinemia, renal failure, or kidney transplants.
A nitrocellulose solution in ether and alcohol. Collodion has a wide range of uses in industry including applications in the manufacture of photographic film, in fibers, in lacquers, and in engraving and lithography. In medicine it is used as a drug solvent and a wound sealant.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
The production of red blood cells (ERYTHROCYTES). In humans, erythrocytes are produced by the YOLK SAC in the first trimester; by the liver in the second trimester; by the BONE MARROW in the third trimester and after birth. In normal individuals, the erythrocyte count in the peripheral blood remains relatively constant implying a balance between the rate of erythrocyte production and rate of destruction.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
The cells in the erythroid series derived from MYELOID PROGENITOR CELLS or from the bi-potential MEGAKARYOCYTE-ERYTHROID PROGENITOR CELLS which eventually give rise to mature RED BLOOD CELLS. The erythroid progenitor cells develop in two phases: erythroid burst-forming units (BFU-E) followed by erythroid colony-forming units (CFU-E); BFU-E differentiate into CFU-E on stimulation by ERYTHROPOIETIN, and then further differentiate into ERYTHROBLASTS when stimulated by other factors.
A group of transcription factors that were originally described as being specific to ERYTHROID CELLS.
The biosynthesis of PEPTIDES and PROTEINS on RIBOSOMES, directed by MESSENGER RNA, via TRANSFER RNA that is charged with standard proteinogenic AMINO ACIDS.
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
One of two major pharmacologically defined classes of adrenergic receptors. The beta adrenergic receptors play an important role in regulating CARDIAC MUSCLE contraction, SMOOTH MUSCLE relaxation, and GLYCOGENOLYSIS.
Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.
An integrin beta subunit of approximately 85-kDa in size which has been found in INTEGRIN ALPHAIIB-containing and INTEGRIN ALPHAV-containing heterodimers. Integrin beta3 occurs as three alternatively spliced isoforms, designated beta3A-C.
Biologically active DNA which has been formed by the in vitro joining of segments of DNA from different sources. It includes the recombination joint or edge of a heteroduplex region where two recombining DNA molecules are connected.
Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.
An individual in which both alleles at a given locus are identical.
The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
Enzymes that catalyze the endonucleolytic cleavage of single-stranded regions of DNA or RNA molecules while leaving the double-stranded regions intact. They are particularly useful in the laboratory for producing "blunt-ended" DNA molecules from DNA with single-stranded ends and for sensitive GENETIC TECHNIQUES such as NUCLEASE PROTECTION ASSAYS that involve the detection of single-stranded DNA and RNA.
An enzyme capable of hydrolyzing highly polymerized DNA by splitting phosphodiester linkages, preferentially adjacent to a pyrimidine nucleotide. This catalyzes endonucleolytic cleavage of DNA yielding 5'-phosphodi- and oligonucleotide end-products. The enzyme has a preference for double-stranded DNA.
Established cell cultures that have the potential to propagate indefinitely.
Actual loss of portion of a chromosome.
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
The species Oryctolagus cuniculus, in the family Leporidae, order LAGOMORPHA. Rabbits are born in burrows, furless, and with eyes and ears closed. In contrast with HARES, rabbits have 22 chromosome pairs.
Nucleic acid sequences involved in regulating the expression of genes.
A fractionated cell extract that maintains a biological function. A subcellular fraction isolated by ultracentrifugation or other separation techniques must first be isolated so that a process can be studied free from all of the complex side reactions that occur in a cell. The cell-free system is therefore widely used in cell biology. (From Alberts et al., Molecular Biology of the Cell, 2d ed, p166)
An individual having different alleles at one or more loci regarding a specific character.
DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
A factor synthesized in a wide variety of tissues. It acts synergistically with TGF-alpha in inducing phenotypic transformation and can also act as a negative autocrine growth factor. TGF-beta has a potential role in embryonal development, cellular differentiation, hormone secretion, and immune function. TGF-beta is found mostly as homodimer forms of separate gene products TGF-beta1, TGF-beta2 or TGF-beta3. Heterodimers composed of TGF-beta1 and 2 (TGF-beta1.2) or of TGF-beta2 and 3 (TGF-beta2.3) have been isolated. The TGF-beta proteins are synthesized as precursor proteins.
The parts of a macromolecule that directly participate in its specific combination with another molecule.
Genes that cause the epigenotype (i.e., the interrelated developmental pathways through which the adult organism is realized) to switch to an alternate cell lineage-related pathway. Switch complexes control the expression of normal functional development as well as oncogenic transformation.
Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Any method used for determining the location of and relative distances between genes on a chromosome.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
The unborn young of a viviparous mammal, in the postembryonic period, after the major structures have been outlined. In humans, the unborn young from the end of the eighth week after CONCEPTION until BIRTH, as distinguished from the earlier EMBRYO, MAMMALIAN.
A polynucleotide consisting essentially of chains with a repeating backbone of phosphate and ribose units to which nitrogenous bases are attached. RNA is unique among biological macromolecules in that it can encode genetic information, serve as an abundant structural component of cells, and also possesses catalytic activity. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
The series of cells in the red blood cell lineage at various stages of differentiation.
An integrin found in FIBROBLASTS; PLATELETS; MONOCYTES, and LYMPHOCYTES. Integrin alpha5beta1 is the classical receptor for FIBRONECTIN, but it also functions as a receptor for LAMININ and several other EXTRACELLULAR MATRIX PROTEINS.
Also known as CD104 antigen, this protein is distinguished from other beta integrins by its relatively long cytoplasmic domain (approximately 1000 amino acids vs. approximately 50). Five alternatively spliced isoforms have been described.
Immature, nucleated ERYTHROCYTES occupying the stage of ERYTHROPOIESIS that follows formation of ERYTHROID PRECURSOR CELLS and precedes formation of RETICULOCYTES. The normal series is called normoblasts. Cells called MEGALOBLASTS are a pathologic series of erythroblasts.
Electrophoresis in which agar or agarose gel is used as the diffusion medium.
This intrgrin is a key component of HEMIDESMOSOMES and is required for their formation and maintenance in epithelial cells. Integrin alpha6beta4 is also found on thymocytes, fibroblasts, and Schwann cells, where it functions as a laminin receptor (RECEPTORS, LAMININ) and is involved in wound healing, cell migration, and tumor invasiveness.
Preparations of cell constituents or subcellular materials, isolates, or substances.
Integrin beta chains combine with integrin alpha chains to form heterodimeric cell surface receptors. Integrins have traditionally been classified into functional groups based on the identity of one of three beta chains present in the heterodimer. The beta chain is necessary and sufficient for integrin-dependent signaling. Its short cytoplasmic tail contains sequences critical for inside-out signaling.
A 44-kDa highly glycosylated plasma protein that binds phospholipids including CARDIOLIPIN; APOLIPOPROTEIN E RECEPTOR; membrane phospholipids, and other anionic phospholipid-containing moieties. It plays a role in coagulation and apoptotic processes. Formerly known as apolipoprotein H, it is an autoantigen in patients with ANTIPHOSPHOLIPID ANTIBODIES.
Normal adult human hemoglobin. The globin moiety consists of two alpha and two beta chains.
Cells grown in vitro from neoplastic tissue. If they can be established as a TUMOR CELL LINE, they can be propagated in cell culture indefinitely.
Members of the beta-globin family. In humans, two non-allelic types of gamma-globin - A gamma and G gamma are encoded in the beta-globin gene cluster on CHROMOSOME 11. Two gamma-globin chains combine with two ZETA-GLOBIN chains to form the embryonic hemoglobin Portland. Fetal HEMOGLOBIN F is formed from two gamma-globin chains combined with two ALPHA-GLOBIN chains.
Integrin alpha4beta1 is a FIBRONECTIN and VCAM-1 receptor present on LYMPHOCYTES; MONOCYTES; EOSINOPHILS; NK CELLS and thymocytes. It is involved in both cell-cell and cell- EXTRACELLULAR MATRIX adhesion and plays a role in INFLAMMATION, hematopoietic cell homing and immune function, and has been implicated in skeletal MYOGENESIS; NEURAL CREST migration and proliferation, lymphocyte maturation and morphogenesis of the PLACENTA and HEART.
A group of genetically identical cells all descended from a single common ancestral cell by mitosis in eukaryotes or by binary fission in prokaryotes. Clone cells also include populations of recombinant DNA molecules all carrying the same inserted sequence. (From King & Stansfield, Dictionary of Genetics, 4th ed)
Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.
An integrin found on fibroblasts, platelets, endothelial and epithelial cells, and lymphocytes where it functions as a receptor for COLLAGEN and LAMININ. Although originally referred to as the collagen receptor, it is one of several receptors for collagen. Ligand binding to integrin alpha2beta1 triggers a cascade of intracellular signaling, including activation of p38 MAP kinase.
A subclass of beta-adrenergic receptors (RECEPTORS, ADRENERGIC, BETA). The adrenergic beta-2 receptors are more sensitive to EPINEPHRINE than to NOREPINEPHRINE and have a high affinity for the agonist TERBUTALINE. They are widespread, with clinically important roles in SKELETAL MUSCLE; LIVER; and vascular, bronchial, gastrointestinal, and genitourinary SMOOTH MUSCLE.
Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
Liquid chromatographic techniques which feature high inlet pressures, high sensitivity, and high speed.
The first continuously cultured human malignant CELL LINE, derived from the cervical carcinoma of Henrietta Lacks. These cells are used for VIRUS CULTIVATION and antitumor drug screening assays.
A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.
The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm.
A family of hemoglobin-like proteins found in BACTERIA; PLANTS; and unicellular eukaryotes. Truncated hemoglobins are distantly related to vertebrate hemoglobins and are typically shorter than vertebrate hemoglobins by 20-40 residues.
The rate dynamics in chemical or physical systems.
A family of transmembrane glycoproteins (MEMBRANE GLYCOPROTEINS) consisting of noncovalent heterodimers. They interact with a wide variety of ligands including EXTRACELLULAR MATRIX PROTEINS; COMPLEMENT, and other cells, while their intracellular domains interact with the CYTOSKELETON. The integrins consist of at least three identified families: the cytoadhesin receptors(RECEPTORS, CYTOADHESIN), the leukocyte adhesion receptors (RECEPTORS, LEUKOCYTE ADHESION), and the VERY LATE ANTIGEN RECEPTORS. Each family contains a common beta-subunit (INTEGRIN BETA CHAINS) combined with one or more distinct alpha-subunits (INTEGRIN ALPHA CHAINS). These receptors participate in cell-matrix and cell-cell adhesion in many physiologically important processes, including embryological development; HEMOSTASIS; THROMBOSIS; WOUND HEALING; immune and nonimmune defense mechanisms; and oncogenic transformation.
A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted.
A soluble factor produced by MONOCYTES; MACROPHAGES, and other cells which activates T-lymphocytes and potentiates their response to mitogens or antigens. Interleukin-1 is a general term refers to either of the two distinct proteins, INTERLEUKIN-1ALPHA and INTERLEUKIN-1BETA. The biological effects of IL-1 include the ability to replace macrophage requirements for T-cell activation.
Integrin beta-1 chains which are expressed as heterodimers that are noncovalently associated with specific alpha-chains of the CD49 family (CD49a-f). CD29 is expressed on resting and activated leukocytes and is a marker for all of the very late activation antigens on cells. (from: Barclay et al., The Leukocyte Antigen FactsBook, 1993, p164)
A cell surface receptor mediating cell adhesion to the EXTRACELLULAR MATRIX and to other cells via binding to LAMININ. It is involved in cell migration, embryonic development, leukocyte activation and tumor cell invasiveness. Integrin alpha6beta1 is the major laminin receptor on PLATELETS; LEUKOCYTES; and many EPITHELIAL CELLS, and ligand binding may activate a number of signal transduction pathways. Alternative splicing of the cytoplasmic domain of the alpha6 subunit (INTEGRIN ALPHA6) results in the formation of A and B isoforms of the heterodimer, which are expressed in a tissue-specific manner.
A tissue-specific subunit of NF-E2 transcription factor that interacts with small MAF PROTEINS to regulate gene expression. P45 NF-E2 protein is expressed primarily in MEGAKARYOCYTES; ERYTHROID CELLS; and MAST CELLS.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
The color-furnishing portion of hemoglobin. It is found free in tissues and as the prosthetic group in many hemeproteins.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A subclass of beta-adrenergic receptors (RECEPTORS, ADRENERGIC, BETA). The adrenergic beta-1 receptors are equally sensitive to EPINEPHRINE and NOREPINEPHRINE and bind the agonist DOBUTAMINE and the antagonist METOPROLOL with high affinity. They are found in the HEART, juxtaglomerular cells, and in the central and peripheral nervous systems.
A basic-leucine zipper transcription factor that regulates GLOBIN gene expression and is related to TRANSCRIPTION FACTOR AP-1. NF-E2 consists of a small MAF protein subunit and a tissue-restricted 45 kDa subunit.
Integrin alpha1beta1 functions as a receptor for LAMININ and COLLAGEN. It is widely expressed during development, but in the adult is the predominant laminin receptor (RECEPTORS, LAMININ) in mature SMOOTH MUSCLE CELLS, where it is important for maintenance of the differentiated phenotype of these cells. Integrin alpha1beta1 is also found in LYMPHOCYTES and microvascular endothelial cells, and may play a role in angiogenesis. In SCHWANN CELLS and neural crest cells, it is involved in cell migration. Integrin alpha1beta1 is also known as VLA-1 and CD49a-CD29.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
A highly polar organic liquid, that is used widely as a chemical solvent. Because of its ability to penetrate biological membranes, it is used as a vehicle for topical application of pharmaceuticals. It is also used to protect tissue during CRYOPRESERVATION. Dimethyl sulfoxide shows a range of pharmacological activity including analgesia and anti-inflammation.
Proteins prepared by recombinant DNA technology.
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
Compounds and molecular complexes that consist of very large numbers of atoms and are generally over 500 kDa in size. In biological systems macromolecular substances usually can be visualized using ELECTRON MICROSCOPY and are distinguished from ORGANELLES by the lack of a membrane structure.
A glycogen synthase kinase that was originally described as a key enzyme involved in glycogen metabolism. It regulates a diverse array of functions such as CELL DIVISION, microtubule function and APOPTOSIS.
The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.

Correction of sickle cell disease in transgenic mouse models by gene therapy. (1/262)

Sickle cell disease (SCD) is caused by a single point mutation in the human betaA globin gene that results in the formation of an abnormal hemoglobin [HbS (alpha2betaS2)]. We designed a betaA globin gene variant that prevents HbS polymerization and introduced it into a lentiviral vector we optimized for transfer to hematopoietic stem cells and gene expression in the adult red blood cell lineage. Long-term expression (up to 10 months) was achieved, without preselection, in all transplanted mice with erythroid-specific accumulation of the antisickling protein in up to 52% of total hemoglobin and 99% of circulating red blood cells. In two mouse SCD models, Berkeley and SAD, inhibition of red blood cell dehydration and sickling was achieved with correction of hematological parameters, splenomegaly, and prevention of the characteristic urine concentration defect.  (+info)

Gene Therapy for beta-thalassemia. (2/262)

Gene transfer for beta-thalassemia requires gene transfer into hematopoietic stem cells using integrating vectors that direct regulated expression of beta globin at therapeutic levels. Among integrating vectors, oncoretroviral vectors carrying the human beta-globin gene and portions of the locus control region (LCR) have suffered from problems of vector instability, low titers and variable expression. In recent studies, human immunodeficiency virus-based lentiviral (LV) vectors were shown to stably transmit the human beta-globin gene and a large LCR element, resulting in correction of beta-thalassemia intermedia in mice. Several groups have since demonstrated correction of the mouse thalassemia intermedia phenotype, with variable levels of beta-globin expression. These levels of expression were insufficient to fully correct the anemia in thalassemia major mouse model. Insertion of a chicken hypersensitive site-4 chicken insulator element (cHS4) in self-inactivating (SIN) LV vectors resulted in higher and less variable expression of human beta-globin, similar to the observations with cHS4-containing retroviral vectors carrying the human gamma-globin gene. The levels of beta-globin expression achieved from insulated SIN-LV vectors were sufficient to phenotypically correct the thalassemia phenotype from 4 patients with human thalassemia major in vitro, and this correction persisted long term for up to 4 months, in xeno-transplanted mice in vivo. In summary, LV vectors have paved the way for clinical gene therapy trials for Cooley's anemia and other beta-globin disorders. SIN-LV vectors address several safety concerns of randomly integrating viral vectors by removing viral transcriptional elements and providing lineage-restricted expression. Flanking the proviral cassette with chromatin insulator elements, which additionally have enhancer-blocking properties, may further improve SIN-LV vector safety.  (+info)

Intergenic transcription, cell-cycle and the developmentally regulated epigenetic profile of the human beta-globin locus. (3/262)

Several lines of evidence have established strong links between transcriptional activity and specific post-translation modifications of histones. Here we show using RNA FISH that in erythroid cells, intergenic transcription in the human beta-globin locus occurs over a region of greater than 250 kb including several genes in the nearby olfactory receptor gene cluster. This entire region is transcribed during S phase of the cell cycle. However, within this region there are approximately 20 kb sub-domains of high intergenic transcription that occurs outside of S phase. These sub-domains are developmentally regulated and enriched with high levels of active modifications primarily to histone H3. The sub-domains correspond to the beta-globin locus control region, which is active at all developmental stages in erythroid cells, and the region flanking the developmentally regulated, active globin genes. These results correlate high levels of non-S phase intergenic transcription with domain-wide active histone modifications to histone H3.  (+info)

Cis-cotranscription of two beta globin genes during chicken primitive hematopoiesis. (4/262)

Chicken beta globin locus contains four genes, two of which, rho and epsilon, are expressed from the earliest stage of primitive hematopoiesis. Here we show that the transcription of these two genes in the nucleus engages in "on/off" phases. During each "on" phase, cotranscription of rho and epsilon in cis is favored. We propose that these two chicken beta globin genes are transcribed not by competing for a transcription initiation complex, but in a cooperative way.  (+info)

BP1 motif in the human beta-globin promoter affects beta-globin expression during embryonic/fetal erythropoiesis in transgenic mice bearing the human beta-globin gene. (5/262)

 (+info)

Epigenetics of beta-globin gene regulation. (6/262)

 (+info)

PNA-peptide conjugates as intracellular gene control agents. (7/262)

 (+info)

New genes originated via multiple recombinational pathways in the beta-globin gene family of rodents. (8/262)

 (+info)

Globins are a group of proteins that contain a heme prosthetic group, which binds and transports oxygen in the blood. The most well-known globin is hemoglobin, which is found in red blood cells and is responsible for carrying oxygen from the lungs to the body's tissues. Other members of the globin family include myoglobin, which is found in muscle tissue and stores oxygen, and neuroglobin and cytoglobin, which are found in the brain and other organs and may have roles in protecting against oxidative stress and hypoxia (low oxygen levels). Globins share a similar structure, with a folded protein surrounding a central heme group. Mutations in globin genes can lead to various diseases, such as sickle cell anemia and thalassemia.

Thalassemia is a group of inherited genetic disorders that affect the production of hemoglobin, a protein in red blood cells responsible for carrying oxygen throughout the body. The disorder results in less efficient or abnormal hemoglobin, which can lead to anemia, an insufficient supply of oxygen-rich red blood cells.

There are two main types of Thalassemia: alpha and beta. Alpha thalassemia occurs when there is a problem with the alpha globin chain production, while beta thalassemia results from issues in beta globin chain synthesis. These disorders can range from mild to severe, depending on the number of genes affected and their specific mutations.

Severe forms of Thalassemia may require regular blood transfusions, iron chelation therapy, or even a bone marrow transplant to manage symptoms and prevent complications.

Beta-globins are the type of globin proteins that make up the beta-chain of hemoglobin, the oxygen-carrying protein in red blood cells. Hemoglobin is composed of four polypeptide chains, two alpha-globin and two beta-globin chains, arranged in a specific structure. The beta-globin gene is located on chromosome 11, and mutations in this gene can lead to various forms of hemoglobin disorders such as sickle cell anemia and beta-thalassemia.

Reticulocytes are immature red blood cells that still contain remnants of organelles, such as ribosomes and mitochondria, which are typically found in developing cells. These organelles are involved in the process of protein synthesis and energy production, respectively. Reticulocytes are released from the bone marrow into the bloodstream, where they continue to mature into fully developed red blood cells called erythrocytes.

Reticulocytes can be identified under a microscope by their staining characteristics, which reveal a network of fine filaments or granules known as the reticular apparatus. This apparatus is composed of residual ribosomal RNA and other proteins that have not yet been completely eliminated during the maturation process.

The percentage of reticulocytes in the blood can be used as a measure of bone marrow function and erythropoiesis, or red blood cell production. An increased reticulocyte count may indicate an appropriate response to blood loss, hemolysis, or other conditions that cause anemia, while a decreased count may suggest impaired bone marrow function or a deficiency in erythropoietin, the hormone responsible for stimulating red blood cell production.

Erythroblastic Leukemia, Acute (also known as Acute Erythroid Leukemia or AEL) is a subtype of acute myeloid leukemia (AML), which is a type of cancer affecting the blood and bone marrow. In this condition, there is an overproduction of erythroblasts (immature red blood cells) in the bone marrow, leading to their accumulation and interference with normal blood cell production. This results in a decrease in the number of functional red blood cells, white blood cells, and platelets in the body. Symptoms may include fatigue, weakness, frequent infections, and easy bruising or bleeding. AEL is typically treated with chemotherapy and sometimes requires stem cell transplantation.

Beta-thalassemia is a genetic blood disorder that affects the production of hemoglobin, a protein in red blood cells that carries oxygen throughout the body. Specifically, beta-thalassemia is caused by mutations in the beta-globin gene, which leads to reduced or absent production of the beta-globin component of hemoglobin.

There are two main types of beta-thalassemia:

1. Beta-thalassemia major (also known as Cooley's anemia): This is a severe form of the disorder that typically becomes apparent in early childhood. It is characterized by a significant reduction or absence of beta-globin production, leading to anemia, enlarged spleen and liver, jaundice, and growth retardation.
2. Beta-thalassemia intermedia: This is a milder form of the disorder that may not become apparent until later in childhood or even adulthood. It is characterized by a variable reduction in beta-globin production, leading to mild to moderate anemia and other symptoms that can range from nonexistent to severe.

Treatment for beta-thalassemia depends on the severity of the disorder and may include blood transfusions, iron chelation therapy, and/or bone marrow transplantation. In some cases, genetic counseling and prenatal diagnosis may also be recommended for families with a history of the disorder.

Alpha-globins are a type of globin protein that combine to form the alpha-globin chains of hemoglobin, the oxygen-carrying protein in red blood cells. Hemoglobin is composed of four globin chains, two alpha-globin chains and two beta-globin chains, that surround a heme group. The alpha-globin genes are located on chromosome 16 and are essential for normal hemoglobin function. Mutations in the alpha-globin genes can lead to various forms of hemoglobin disorders such as alpha-thalassemia.

A Locus Control Region (LCR) is a term used in molecular biology to describe a specific type of cis-acting DNA regulatory element that controls the expression of genes located within a genetic locus. These regions are characterized by their ability to enhance or increase the transcription of genes, particularly when they are located at a distance from the gene itself.

LCRs typically contain multiple binding sites for various transcription factors and other regulatory proteins, which work together to modulate the expression of the associated genes. They are often found in clusters near the genes they regulate, and can have a profound impact on the level, timing, and specificity of gene expression.

In the context of human genetics, LCRs have been identified as important regulators of gene expression in a number of different contexts, including development, differentiation, and disease. For example, mutations or variations in LCRs have been linked to several genetic disorders, including certain forms of cancer and hemoglobinopathies such as sickle cell anemia.

Abnormal hemoglobins refer to variants of the oxygen-carrying protein found in red blood cells, which differ from the normal adult hemoglobin (HbA) in terms of their structure and function. These variations can result from genetic mutations that affect the composition of the globin chains in the hemoglobin molecule. Some abnormal hemoglobins are clinically insignificant, while others can lead to various medical conditions such as hemolytic anemia, thalassemia, or sickle cell disease. Examples of abnormal hemoglobins include HbS (associated with sickle cell anemia), HbC, HbE, and HbF (fetal hemoglobin). These variants can be detected through specialized laboratory tests, such as hemoglobin electrophoresis or high-performance liquid chromatography (HPLC).

Hemoglobinopathies are a group of genetic disorders characterized by structural or functional abnormalities of the hemoglobin molecule in red blood cells. Hemoglobin is a complex protein that plays a crucial role in carrying oxygen throughout the body. The two most common types of hemoglobinopathies are sickle cell disease and thalassemia.

In sickle cell disease, a single mutation in the beta-globin gene results in the production of an abnormal form of hemoglobin called hemoglobin S (HbS). When deoxygenated, HbS molecules tend to aggregate and form long polymers, causing the red blood cells to become sickle-shaped, rigid, and fragile. These abnormally shaped cells can block small blood vessels, leading to tissue damage, chronic pain, organ dysfunction, and other serious complications.

Thalassemias are a heterogeneous group of disorders caused by mutations in the genes that regulate the production of alpha- or beta-globin chains. These mutations result in reduced or absent synthesis of one or more globin chains, leading to an imbalance in hemoglobin composition and structure. This imbalance can cause premature destruction of red blood cells (hemolysis), resulting in anemia, jaundice, splenomegaly, and other symptoms.

Hemoglobinopathies are typically inherited in an autosomal recessive manner, meaning that affected individuals have two copies of the abnormal gene – one from each parent. Carriers of a single abnormal gene usually do not show any signs or symptoms of the disorder but can pass the abnormal gene on to their offspring.

Early diagnosis and appropriate management of hemoglobinopathies are essential for improving quality of life, reducing complications, and increasing survival rates. Treatment options may include blood transfusions, iron chelation therapy, antibiotics, pain management, and, in some cases, bone marrow transplantation or gene therapy.

Fetal hemoglobin (HbF) is a type of hemoglobin that is produced in the fetus and newborn babies. It is composed of two alpha-like globin chains and two gamma-globin chains, designated as α2γ2. HbF is the primary form of hemoglobin during fetal development, replacing the embryonic hemoglobin (HbG) around the eighth week of gestation.

The unique property of HbF is its higher affinity for oxygen compared to adult hemoglobin (HbA), which helps ensure adequate oxygen supply from the mother to the developing fetus. After birth, as the newborn starts breathing on its own and begins to receive oxygen directly, the production of HbF gradually decreases and is usually replaced by HbA within the first year of life.

In some genetic disorders like sickle cell disease and beta-thalassemia, persistence of HbF into adulthood can be beneficial as it reduces the severity of symptoms due to its higher oxygen-carrying capacity and less polymerization tendency compared to HbS (in sickle cell disease) or unpaired alpha chains (in beta-thalassemia). Treatments like hydroxyurea are used to induce HbF production in these patients as a therapeutic approach.

A gene is a specific sequence of nucleotides in DNA that carries genetic information. Genes are the fundamental units of heredity and are responsible for the development and function of all living organisms. They code for proteins or RNA molecules, which carry out various functions within cells and are essential for the structure, function, and regulation of the body's tissues and organs.

Each gene has a specific location on a chromosome, and each person inherits two copies of every gene, one from each parent. Variations in the sequence of nucleotides in a gene can lead to differences in traits between individuals, including physical characteristics, susceptibility to disease, and responses to environmental factors.

Medical genetics is the study of genes and their role in health and disease. It involves understanding how genes contribute to the development and progression of various medical conditions, as well as identifying genetic risk factors and developing strategies for prevention, diagnosis, and treatment.

Hemoglobin S (HbS) is a genetic variant of hemoglobin, which is the oxygen-carrying protein in red blood cells. This abnormal form of hemogllobin results from a mutation in the beta-globin gene, leading to the substitution of valine for glutamic acid at position six of the beta-globin chain.

In individuals with sickle cell disease (a group of inherited red blood cell disorders), both copies of their beta-globin genes carry this mutation, causing the majority of their hemoglobin to be HbS. When deoxygenated, HbS molecules have a tendency to polymerize and form long, rigid rods within the red blood cells, distorting their shape into a characteristic sickle or crescent form.

These sickled red blood cells are less flexible and more prone to rupture (hemolysis), leading to chronic anemia, vaso-occlusive crises, and other disease complications. Sickle cell disease primarily affects people of African, Mediterranean, Middle Eastern, and Indian ancestry, but it can also be found in other populations worldwide.

Messenger RNA (mRNA) is a type of RNA (ribonucleic acid) that carries genetic information copied from DNA in the form of a series of three-base code "words," each of which specifies a particular amino acid. This information is used by the cell's machinery to construct proteins, a process known as translation. After being transcribed from DNA, mRNA travels out of the nucleus to the ribosomes in the cytoplasm where protein synthesis occurs. Once the protein has been synthesized, the mRNA may be degraded and recycled. Post-transcriptional modifications can also occur to mRNA, such as alternative splicing and addition of a 5' cap and a poly(A) tail, which can affect its stability, localization, and translation efficiency.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

Hemoglobin A2 is a type of hemoglobin that is found in human red blood cells. Hemoglobin is the protein in red blood cells that carries oxygen throughout the body. Hemoglobin A2 is made up of two alpha-like globin chains and two delta-globin chains, and it accounts for approximately 1.5 to 3.5% of the total hemoglobin in adult humans.

Hemoglobin A2 is not normally present in significant amounts until after a child has passed through their first year of life. Its level remains relatively constant throughout adulthood, and it is often used as a diagnostic marker for certain types of anemia, such as beta-thalassemia. In people with beta-thalassemia, the production of beta-globin chains is reduced or absent, leading to an increase in the relative proportion of Hemoglobin A2 and Hemoglobin F (fetal hemoglobin) in the red blood cells.

It's important to note that Hemoglobin A2 measurement alone is not enough for a definitive diagnosis of beta-thalassemia, but it can be used as a supportive test along with other investigations such as complete blood count (CBC), hemoglobin electrophoresis and molecular genetic testing.

Interleukin-1 beta (IL-1β) is a member of the interleukin-1 cytokine family and is primarily produced by activated macrophages in response to inflammatory stimuli. It is a crucial mediator of the innate immune response and plays a key role in the regulation of various biological processes, including cell proliferation, differentiation, and apoptosis. IL-1β is involved in the pathogenesis of several inflammatory diseases, such as rheumatoid arthritis, inflammatory bowel disease, and atherosclerosis. It exerts its effects by binding to the interleukin-1 receptor, which triggers a signaling cascade that leads to the activation of various transcription factors and the expression of target genes.

Nucleic acid hybridization is a process in molecular biology where two single-stranded nucleic acids (DNA, RNA) with complementary sequences pair together to form a double-stranded molecule through hydrogen bonding. The strands can be from the same type of nucleic acid or different types (i.e., DNA-RNA or DNA-cDNA). This process is commonly used in various laboratory techniques, such as Southern blotting, Northern blotting, polymerase chain reaction (PCR), and microarray analysis, to detect, isolate, and analyze specific nucleic acid sequences. The hybridization temperature and conditions are critical to ensure the specificity of the interaction between the two strands.

Hemoglobin (Hb or Hgb) is the main oxygen-carrying protein in the red blood cells, which are responsible for delivering oxygen throughout the body. It is a complex molecule made up of four globin proteins and four heme groups. Each heme group contains an iron atom that binds to one molecule of oxygen. Hemoglobin plays a crucial role in the transport of oxygen from the lungs to the body's tissues, and also helps to carry carbon dioxide back to the lungs for exhalation.

There are several types of hemoglobin present in the human body, including:

* Hemoglobin A (HbA): This is the most common type of hemoglobin, making up about 95-98% of total hemoglobin in adults. It consists of two alpha and two beta globin chains.
* Hemoglobin A2 (HbA2): This makes up about 1.5-3.5% of total hemoglobin in adults. It consists of two alpha and two delta globin chains.
* Hemoglobin F (HbF): This is the main type of hemoglobin present in fetal life, but it persists at low levels in adults. It consists of two alpha and two gamma globin chains.
* Hemoglobin S (HbS): This is an abnormal form of hemoglobin that can cause sickle cell disease when it occurs in the homozygous state (i.e., both copies of the gene are affected). It results from a single amino acid substitution in the beta globin chain.
* Hemoglobin C (HbC): This is another abnormal form of hemoglobin that can cause mild to moderate hemolytic anemia when it occurs in the homozygous state. It results from a different single amino acid substitution in the beta globin chain than HbS.

Abnormal forms of hemoglobin, such as HbS and HbC, can lead to various clinical disorders, including sickle cell disease, thalassemia, and other hemoglobinopathies.

DNA restriction enzymes, also known as restriction endonucleases, are a type of enzyme that cut double-stranded DNA at specific recognition sites. These enzymes are produced by bacteria and archaea as a defense mechanism against foreign DNA, such as that found in bacteriophages (viruses that infect bacteria).

Restriction enzymes recognize specific sequences of nucleotides (the building blocks of DNA) and cleave the phosphodiester bonds between them. The recognition sites for these enzymes are usually palindromic, meaning that the sequence reads the same in both directions when facing the opposite strands of DNA.

Restriction enzymes are widely used in molecular biology research for various applications such as genetic engineering, genome mapping, and DNA fingerprinting. They allow scientists to cut DNA at specific sites, creating precise fragments that can be manipulated and analyzed. The use of restriction enzymes has been instrumental in the development of recombinant DNA technology and the Human Genome Project.

Hemin is defined as the iron(III) complex of protoporphyrin IX, which is a porphyrin derivative. It is a naturally occurring substance that is involved in various biological processes, most notably in the form of heme, which is a component of hemoglobin and other hemoproteins. Hemin is also used in medical research and therapy, such as in the treatment of methemoglobinemia and lead poisoning.

Sickle cell anemia is a genetic disorder that affects the hemoglobin in red blood cells. Hemoglobin is responsible for carrying oxygen throughout the body. In sickle cell anemia, the hemoglobin is abnormal and causes the red blood cells to take on a sickle shape, rather than the normal disc shape. These sickled cells are stiff and sticky, and they can block blood vessels, causing tissue damage and pain. They also die more quickly than normal red blood cells, leading to anemia.

People with sickle cell anemia often experience fatigue, chronic pain, and jaundice. They may also have a higher risk of infections and complications such as stroke, acute chest syndrome, and priapism. The disease is inherited from both parents, who must both be carriers of the sickle cell gene. It primarily affects people of African descent, but it can also affect people from other ethnic backgrounds.

There is no cure for sickle cell anemia, but treatments such as blood transfusions, medications to manage pain and prevent complications, and bone marrow transplantation can help improve quality of life for affected individuals. Regular medical care and monitoring are essential for managing the disease effectively.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

Beta-2 microglobulin (β2M) is a small protein that is a component of the major histocompatibility complex class I molecule, which plays a crucial role in the immune system. It is found on the surface of almost all nucleated cells in the body and is involved in presenting intracellular peptides to T-cells for immune surveillance.

β2M is produced at a relatively constant rate by cells throughout the body and is freely filtered by the glomeruli in the kidneys. Under normal circumstances, most of the filtrated β2M is reabsorbed and catabolized in the proximal tubules of the nephrons. However, when the glomerular filtration rate (GFR) is decreased, as in chronic kidney disease (CKD), the reabsorption capacity of the proximal tubules becomes overwhelmed, leading to increased levels of β2M in the blood and its subsequent appearance in the urine.

Elevated serum and urinary β2M levels have been associated with various clinical conditions, such as CKD, multiple myeloma, autoimmune disorders, and certain infectious diseases. Measuring β2M concentrations can provide valuable information for diagnostic, prognostic, and monitoring purposes in these contexts.

Collodion is a clear, colorless, viscous solution that is used in medicine and photography. Medically, collodion is often used as a temporary protective dressing for wounds, burns, or skin abrasions. When applied to the skin, it dries to form a flexible, waterproof film that helps to prevent infection and promote healing. Collodion is typically made from a mixture of nitrocellulose, alcohol, and ether.

In photography, collodion was historically used as a medium for wet plate photography, which was popular in the mid-19th century. The photographer would coat a glass plate with a thin layer of collodion, then sensitize it with silver salts before exposing and developing the image while the collodion was still wet. This process required the photographer to carry a portable darkroom and develop the plates immediately after exposure. Despite its challenges, the wet plate collodion process was able to produce highly detailed images, making it a popular technique for portrait photography during its time.

Deoxyribonucleic acid (DNA) is the genetic material present in the cells of organisms where it is responsible for the storage and transmission of hereditary information. DNA is a long molecule that consists of two strands coiled together to form a double helix. Each strand is made up of a series of four nucleotide bases - adenine (A), guanine (G), cytosine (C), and thymine (T) - that are linked together by phosphate and sugar groups. The sequence of these bases along the length of the molecule encodes genetic information, with A always pairing with T and C always pairing with G. This base-pairing allows for the replication and transcription of DNA, which are essential processes in the functioning and reproduction of all living organisms.

Erythrocytes, also known as red blood cells (RBCs), are the most common type of blood cell in circulating blood in mammals. They are responsible for transporting oxygen from the lungs to the body's tissues and carbon dioxide from the tissues to the lungs.

Erythrocytes are formed in the bone marrow and have a biconcave shape, which allows them to fold and bend easily as they pass through narrow blood vessels. They do not have a nucleus or mitochondria, which makes them more flexible but also limits their ability to reproduce or repair themselves.

In humans, erythrocytes are typically disc-shaped and measure about 7 micrometers in diameter. They contain the protein hemoglobin, which binds to oxygen and gives blood its red color. The lifespan of an erythrocyte is approximately 120 days, after which it is broken down in the liver and spleen.

Abnormalities in erythrocyte count or function can lead to various medical conditions, such as anemia, polycythemia, and sickle cell disease.

'Gene expression regulation' refers to the processes that control whether, when, and where a particular gene is expressed, meaning the production of a specific protein or functional RNA encoded by that gene. This complex mechanism can be influenced by various factors such as transcription factors, chromatin remodeling, DNA methylation, non-coding RNAs, and post-transcriptional modifications, among others. Proper regulation of gene expression is crucial for normal cellular function, development, and maintaining homeostasis in living organisms. Dysregulation of gene expression can lead to various diseases, including cancer and genetic disorders.

Erythropoiesis is the process of forming and developing red blood cells (erythrocytes) in the body. It occurs in the bone marrow and is regulated by the hormone erythropoietin (EPO), which is produced by the kidneys. Erythropoiesis involves the differentiation and maturation of immature red blood cell precursors called erythroblasts into mature red blood cells, which are responsible for carrying oxygen to the body's tissues. Disorders that affect erythropoiesis can lead to anemia or other blood-related conditions.

Genetic transcription is the process by which the information in a strand of DNA is used to create a complementary RNA molecule. This process is the first step in gene expression, where the genetic code in DNA is converted into a form that can be used to produce proteins or functional RNAs.

During transcription, an enzyme called RNA polymerase binds to the DNA template strand and reads the sequence of nucleotide bases. As it moves along the template, it adds complementary RNA nucleotides to the growing RNA chain, creating a single-stranded RNA molecule that is complementary to the DNA template strand. Once transcription is complete, the RNA molecule may undergo further processing before it can be translated into protein or perform its functional role in the cell.

Transcription can be either "constitutive" or "regulated." Constitutive transcription occurs at a relatively constant rate and produces essential proteins that are required for basic cellular functions. Regulated transcription, on the other hand, is subject to control by various intracellular and extracellular signals, allowing cells to respond to changing environmental conditions or developmental cues.

Erythroid precursor cells, also known as erythroblasts or normoblasts, are early stage cells in the process of producing mature red blood cells (erythrocytes) in the bone marrow. These cells are derived from hematopoietic stem cells and undergo a series of maturation stages, including proerythroblast, basophilic erythroblast, polychromatophilic erythroblast, and orthochromatic erythroblast, before becoming reticulocytes and then mature red blood cells. During this maturation process, the cells lose their nuclei and become enucleated, taking on the biconcave shape and flexible membrane that allows them to move through small blood vessels and deliver oxygen to tissues throughout the body.

Erythroid-specific DNA-binding factors are transcription factors that bind to specific sequences of DNA and help regulate the expression of genes that are involved in the development and differentiation of erythroid cells, which are cells that mature to become red blood cells. These transcription factors play a crucial role in the production of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. Examples of erythroid-specific DNA-binding factors include GATA-1 and KLF1.

Protein biosynthesis is the process by which cells generate new proteins. It involves two major steps: transcription and translation. Transcription is the process of creating a complementary RNA copy of a sequence of DNA. This RNA copy, or messenger RNA (mRNA), carries the genetic information to the site of protein synthesis, the ribosome. During translation, the mRNA is read by transfer RNA (tRNA) molecules, which bring specific amino acids to the ribosome based on the sequence of nucleotides in the mRNA. The ribosome then links these amino acids together in the correct order to form a polypeptide chain, which may then fold into a functional protein. Protein biosynthesis is essential for the growth and maintenance of all living organisms.

A multigene family is a group of genetically related genes that share a common ancestry and have similar sequences or structures. These genes are arranged in clusters on a chromosome and often encode proteins with similar functions. They can arise through various mechanisms, including gene duplication, recombination, and transposition. Multigene families play crucial roles in many biological processes, such as development, immunity, and metabolism. Examples of multigene families include the globin genes involved in oxygen transport, the immune system's major histocompatibility complex (MHC) genes, and the cytochrome P450 genes associated with drug metabolism.

Adrenergic receptors are a type of G protein-coupled receptor that binds and responds to catecholamines, such as epinephrine (adrenaline) and norepinephrine (noradrenaline). Beta adrenergic receptors (β-adrenergic receptors) are a subtype of adrenergic receptors that include three distinct subclasses: β1, β2, and β3. These receptors are widely distributed throughout the body and play important roles in various physiological functions, including cardiovascular regulation, bronchodilation, lipolysis, and glucose metabolism.

β1-adrenergic receptors are primarily located in the heart and regulate cardiac contractility, chronotropy (heart rate), and relaxation. β2-adrenergic receptors are found in various tissues, including the lungs, vascular smooth muscle, liver, and skeletal muscle. They mediate bronchodilation, vasodilation, glycogenolysis, and lipolysis. β3-adrenergic receptors are mainly expressed in adipose tissue, where they stimulate lipolysis and thermogenesis.

Agonists of β-adrenergic receptors include catecholamines like epinephrine and norepinephrine, as well as synthetic drugs such as dobutamine (a β1-selective agonist) and albuterol (a non-selective β2-agonist). Antagonists of β-adrenergic receptors are commonly used in the treatment of various conditions, including hypertension, angina pectoris, heart failure, and asthma. Examples of β-blockers include metoprolol (a β1-selective antagonist) and carvedilol (a non-selective β-blocker with additional α1-adrenergic receptor blocking activity).

Artificial chromosomes, yeast are synthetic chromosomes that have been created in the laboratory and can function in yeast cells. They are made up of DNA sequences that have been chemically synthesized or engineered from existing yeast chromosomes. These artificial chromosomes can be used to introduce new genes or modify existing ones in yeast, allowing for the study of gene function and genetic interactions in a controlled manner.

The creation of artificial chromosomes in yeast has been an important tool in biotechnology and synthetic biology, enabling the development of novel industrial processes and the engineering of yeast strains with enhanced properties for various applications, such as biofuel production or the manufacture of pharmaceuticals. Additionally, the study of artificial chromosomes in yeast has provided valuable insights into the fundamental principles of genome organization, replication, and inheritance.

Integrin β3 is a subunit of certain integrin heterodimers, which are transmembrane receptors that mediate cell-cell and cell-extracellular matrix (ECM) adhesion. Integrin β3 combines with either integrin αv (to form the integrin αvβ3) or integrin αIIb (to form the integrin αIIbβ3). These integrins are involved in various cellular processes, including platelet aggregation, angiogenesis, and tumor metastasis.

Integrin αIIbβ3 is primarily expressed on platelets and mediates platelet aggregation by binding to fibrinogen, von Willebrand factor, and other adhesive proteins in the ECM. Integrin αvβ3 is widely expressed in various cell types and participates in diverse functions such as cell migration, proliferation, differentiation, and survival. It binds to a variety of ECM proteins, including fibronectin, vitronectin, and osteopontin, as well as to soluble ligands like vascular endothelial growth factor (VEGF) and transforming growth factor-β (TGF-β).

Dysregulation of integrin β3 has been implicated in several pathological conditions, such as thrombosis, atherosclerosis, tumor metastasis, and inflammatory diseases.

Recombinant DNA is a term used in molecular biology to describe DNA that has been created by combining genetic material from more than one source. This is typically done through the use of laboratory techniques such as molecular cloning, in which fragments of DNA are inserted into vectors (such as plasmids or viruses) and then introduced into a host organism where they can replicate and produce many copies of the recombinant DNA molecule.

Recombinant DNA technology has numerous applications in research, medicine, and industry, including the production of recombinant proteins for use as therapeutics, the creation of genetically modified organisms (GMOs) for agricultural or industrial purposes, and the development of new tools for genetic analysis and manipulation.

It's important to note that while recombinant DNA technology has many potential benefits, it also raises ethical and safety concerns, and its use is subject to regulation and oversight in many countries.

I'm sorry for any confusion, but "hybrid cells" is not a standard medical term with a widely accepted or specific definition in the field of medicine. The term "hybrid" is used in various scientific and medical contexts to describe combinations or mixtures of different elements, such as hybridoma cells (a type of fusion cell used in research, created by combining a B cell and a tumor cell) or hybridization (in genetics, the process of combining DNA from two different sources).

Without more specific context, it's difficult to provide an accurate medical definition for "hybrid cells." If you could provide more information about the context in which this term was used, I would be happy to help you further!

A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.

The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.

Molecular cloning is a laboratory technique used to create multiple copies of a specific DNA sequence. This process involves several steps:

1. Isolation: The first step in molecular cloning is to isolate the DNA sequence of interest from the rest of the genomic DNA. This can be done using various methods such as PCR (polymerase chain reaction), restriction enzymes, or hybridization.
2. Vector construction: Once the DNA sequence of interest has been isolated, it must be inserted into a vector, which is a small circular DNA molecule that can replicate independently in a host cell. Common vectors used in molecular cloning include plasmids and phages.
3. Transformation: The constructed vector is then introduced into a host cell, usually a bacterial or yeast cell, through a process called transformation. This can be done using various methods such as electroporation or chemical transformation.
4. Selection: After transformation, the host cells are grown in selective media that allow only those cells containing the vector to grow. This ensures that the DNA sequence of interest has been successfully cloned into the vector.
5. Amplification: Once the host cells have been selected, they can be grown in large quantities to amplify the number of copies of the cloned DNA sequence.

Molecular cloning is a powerful tool in molecular biology and has numerous applications, including the production of recombinant proteins, gene therapy, functional analysis of genes, and genetic engineering.

Single-strand specific DNA and RNA endonucleases are enzymes that cleave or cut single-stranded DNA or RNA molecules at specific sites, leaving a free 3'-hydroxyl group and a 5'-phosphate group on the resulting fragments. These enzymes recognize and bind to particular nucleotide sequences or structural motifs in single-stranded nucleic acids, making them useful tools for various molecular biology techniques such as DNA and RNA mapping, sequencing, and manipulation.

Examples of single-strand specific endonucleases include S1 nuclease (specific to single-stranded DNA), mung bean nuclease (specific to single-stranded DNA with a preference for 3'-overhangs), and RNase A (specific to single-stranded RNA). These enzymes have distinct substrate specificities, cleavage patterns, and optimal reaction conditions, which should be carefully considered when selecting them for specific applications.

Deoxyribonuclease I (DNase I) is an enzyme that cleaves the phosphodiester bonds in the DNA molecule, breaking it down into smaller pieces. It is also known as DNase A or bovine pancreatic deoxyribonuclease. This enzyme specifically hydrolyzes the internucleotide linkages of DNA by cleaving the phosphodiester bond between the 3'-hydroxyl group of one deoxyribose sugar and the phosphate group of another, leaving 3'-phosphomononucleotides as products.

DNase I plays a crucial role in various biological processes, including DNA degradation during apoptosis (programmed cell death), DNA repair, and host defense against pathogens by breaking down extracellular DNA from invading microorganisms or damaged cells. It is widely used in molecular biology research for applications such as DNA isolation, removing contaminating DNA from RNA samples, and generating defined DNA fragments for cloning purposes. DNase I can be found in various sources, including bovine pancreas, human tears, and bacterial cultures.

A cell line is a culture of cells that are grown in a laboratory for use in research. These cells are usually taken from a single cell or group of cells, and they are able to divide and grow continuously in the lab. Cell lines can come from many different sources, including animals, plants, and humans. They are often used in scientific research to study cellular processes, disease mechanisms, and to test new drugs or treatments. Some common types of human cell lines include HeLa cells (which come from a cancer patient named Henrietta Lacks), HEK293 cells (which come from embryonic kidney cells), and HUVEC cells (which come from umbilical vein endothelial cells). It is important to note that cell lines are not the same as primary cells, which are cells that are taken directly from a living organism and have not been grown in the lab.

A chromosome deletion is a type of genetic abnormality that occurs when a portion of a chromosome is missing or deleted. Chromosomes are thread-like structures located in the nucleus of cells that contain our genetic material, which is organized into genes.

Chromosome deletions can occur spontaneously during the formation of reproductive cells (eggs or sperm) or can be inherited from a parent. They can affect any chromosome and can vary in size, from a small segment to a large portion of the chromosome.

The severity of the symptoms associated with a chromosome deletion depends on the size and location of the deleted segment. In some cases, the deletion may be so small that it does not cause any noticeable symptoms. However, larger deletions can lead to developmental delays, intellectual disabilities, physical abnormalities, and various medical conditions.

Chromosome deletions are typically detected through a genetic test called karyotyping, which involves analyzing the number and structure of an individual's chromosomes. Other more precise tests, such as fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA), may also be used to confirm the diagnosis and identify the specific location and size of the deletion.

Transgenic mice are genetically modified rodents that have incorporated foreign DNA (exogenous DNA) into their own genome. This is typically done through the use of recombinant DNA technology, where a specific gene or genetic sequence of interest is isolated and then introduced into the mouse embryo. The resulting transgenic mice can then express the protein encoded by the foreign gene, allowing researchers to study its function in a living organism.

The process of creating transgenic mice usually involves microinjecting the exogenous DNA into the pronucleus of a fertilized egg, which is then implanted into a surrogate mother. The offspring that result from this procedure are screened for the presence of the foreign DNA, and those that carry the desired genetic modification are used to establish a transgenic mouse line.

Transgenic mice have been widely used in biomedical research to model human diseases, study gene function, and test new therapies. They provide a valuable tool for understanding complex biological processes and developing new treatments for a variety of medical conditions.

I believe there may be some confusion in your question. "Rabbits" is a common name used to refer to the Lagomorpha species, particularly members of the family Leporidae. They are small mammals known for their long ears, strong legs, and quick reproduction.

However, if you're referring to "rabbits" in a medical context, there is a term called "rabbit syndrome," which is a rare movement disorder characterized by repetitive, involuntary movements of the fingers, resembling those of a rabbit chewing. It is also known as "finger-chewing chorea." This condition is usually associated with certain medications, particularly antipsychotics, and typically resolves when the medication is stopped or adjusted.

Regulatory sequences in nucleic acid refer to specific DNA or RNA segments that control the spatial and temporal expression of genes without encoding proteins. They are crucial for the proper functioning of cells as they regulate various cellular processes such as transcription, translation, mRNA stability, and localization. Regulatory sequences can be found in both coding and non-coding regions of DNA or RNA.

Some common types of regulatory sequences in nucleic acid include:

1. Promoters: DNA sequences typically located upstream of the gene that provide a binding site for RNA polymerase and transcription factors to initiate transcription.
2. Enhancers: DNA sequences, often located at a distance from the gene, that enhance transcription by binding to specific transcription factors and increasing the recruitment of RNA polymerase.
3. Silencers: DNA sequences that repress transcription by binding to specific proteins that inhibit the recruitment of RNA polymerase or promote chromatin compaction.
4. Intron splice sites: Specific nucleotide sequences within introns (non-coding regions) that mark the boundaries between exons (coding regions) and are essential for correct splicing of pre-mRNA.
5. 5' untranslated regions (UTRs): Regions located at the 5' end of an mRNA molecule that contain regulatory elements affecting translation efficiency, stability, and localization.
6. 3' untranslated regions (UTRs): Regions located at the 3' end of an mRNA molecule that contain regulatory elements influencing translation termination, stability, and localization.
7. miRNA target sites: Specific sequences in mRNAs that bind to microRNAs (miRNAs) leading to translational repression or degradation of the target mRNA.

A cell-free system is a biochemical environment in which biological reactions can occur outside of an intact living cell. These systems are often used to study specific cellular processes or pathways, as they allow researchers to control and manipulate the conditions in which the reactions take place. In a cell-free system, the necessary enzymes, substrates, and cofactors for a particular reaction are provided in a test tube or other container, rather than within a whole cell.

Cell-free systems can be derived from various sources, including bacteria, yeast, and mammalian cells. They can be used to study a wide range of cellular processes, such as transcription, translation, protein folding, and metabolism. For example, a cell-free system might be used to express and purify a specific protein, or to investigate the regulation of a particular metabolic pathway.

One advantage of using cell-free systems is that they can provide valuable insights into the mechanisms of cellular processes without the need for time-consuming and resource-intensive cell culture or genetic manipulation. Additionally, because cell-free systems are not constrained by the limitations of a whole cell, they offer greater flexibility in terms of reaction conditions and the ability to study complex or transient interactions between biological molecules.

Overall, cell-free systems are an important tool in molecular biology and biochemistry, providing researchers with a versatile and powerful means of investigating the fundamental processes that underlie life at the cellular level.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

Promoter regions in genetics refer to specific DNA sequences located near the transcription start site of a gene. They serve as binding sites for RNA polymerase and various transcription factors that regulate the initiation of gene transcription. These regulatory elements help control the rate of transcription and, therefore, the level of gene expression. Promoter regions can be composed of different types of sequences, such as the TATA box and CAAT box, and their organization and composition can vary between different genes and species.

Prenatal diagnosis is the medical testing of fetuses, embryos, or pregnant women to detect the presence or absence of certain genetic disorders or birth defects. These tests can be performed through various methods such as chorionic villus sampling (CVS), amniocentesis, or ultrasound. The goal of prenatal diagnosis is to provide early information about the health of the fetus so that parents and healthcare providers can make informed decisions about pregnancy management and newborn care. It allows for early intervention, treatment, or planning for the child's needs after birth.

Transforming Growth Factor-beta (TGF-β) is a type of cytokine, which is a cell signaling protein involved in the regulation of various cellular processes, including cell growth, differentiation, and apoptosis (programmed cell death). TGF-β plays a critical role in embryonic development, tissue homeostasis, and wound healing. It also has been implicated in several pathological conditions such as fibrosis, cancer, and autoimmune diseases.

TGF-β exists in multiple isoforms (TGF-β1, TGF-β2, and TGF-β3) that are produced by many different cell types, including immune cells, epithelial cells, and fibroblasts. The protein is synthesized as a precursor molecule, which is cleaved to release the active TGF-β peptide. Once activated, TGF-β binds to its receptors on the cell surface, leading to the activation of intracellular signaling pathways that regulate gene expression and cell behavior.

In summary, Transforming Growth Factor-beta (TGF-β) is a multifunctional cytokine involved in various cellular processes, including cell growth, differentiation, apoptosis, embryonic development, tissue homeostasis, and wound healing. It has been implicated in several pathological conditions such as fibrosis, cancer, and autoimmune diseases.

In the context of medical and biological sciences, a "binding site" refers to a specific location on a protein, molecule, or cell where another molecule can attach or bind. This binding interaction can lead to various functional changes in the original protein or molecule. The other molecule that binds to the binding site is often referred to as a ligand, which can be a small molecule, ion, or even another protein.

The binding between a ligand and its target binding site can be specific and selective, meaning that only certain ligands can bind to particular binding sites with high affinity. This specificity plays a crucial role in various biological processes, such as signal transduction, enzyme catalysis, or drug action.

In the case of drug development, understanding the location and properties of binding sites on target proteins is essential for designing drugs that can selectively bind to these sites and modulate protein function. This knowledge can help create more effective and safer therapeutic options for various diseases.

A "gene switch" in molecular biology refers to regulatory elements that control the expression of genes, turning them on or off in response to various signals. These switches are typically made up of DNA sequences that bind to specific proteins called transcription factors. When these transcription factors bind to the gene switch, they can either activate or repress the transcription of the associated gene into messenger RNA (mRNA), which is then translated into protein.

Gene switches are critical for normal development and physiology, as they allow cells to respond to changes in their environment and to coordinate their activities with other cells. They also play a key role in diseases such as cancer, where abnormal gene expression can contribute to the growth and progression of tumors. By understanding how gene switches work, researchers hope to develop new strategies for treating or preventing diseases caused by abnormal gene expression.

A plasmid is a small, circular, double-stranded DNA molecule that is separate from the chromosomal DNA of a bacterium or other organism. Plasmids are typically not essential for the survival of the organism, but they can confer beneficial traits such as antibiotic resistance or the ability to degrade certain types of pollutants.

Plasmids are capable of replicating independently of the chromosomal DNA and can be transferred between bacteria through a process called conjugation. They often contain genes that provide resistance to antibiotics, heavy metals, and other environmental stressors. Plasmids have also been engineered for use in molecular biology as cloning vectors, allowing scientists to replicate and manipulate specific DNA sequences.

Plasmids are important tools in genetic engineering and biotechnology because they can be easily manipulated and transferred between organisms. They have been used to produce vaccines, diagnostic tests, and genetically modified organisms (GMOs) for various applications, including agriculture, medicine, and industry.

An amino acid sequence is the specific order of amino acids in a protein or peptide molecule, formed by the linking of the amino group (-NH2) of one amino acid to the carboxyl group (-COOH) of another amino acid through a peptide bond. The sequence is determined by the genetic code and is unique to each type of protein or peptide. It plays a crucial role in determining the three-dimensional structure and function of proteins.

Polymerase Chain Reaction (PCR) is a laboratory technique used to amplify specific regions of DNA. It enables the production of thousands to millions of copies of a particular DNA sequence in a rapid and efficient manner, making it an essential tool in various fields such as molecular biology, medical diagnostics, forensic science, and research.

The PCR process involves repeated cycles of heating and cooling to separate the DNA strands, allow primers (short sequences of single-stranded DNA) to attach to the target regions, and extend these primers using an enzyme called Taq polymerase, resulting in the exponential amplification of the desired DNA segment.

In a medical context, PCR is often used for detecting and quantifying specific pathogens (viruses, bacteria, fungi, or parasites) in clinical samples, identifying genetic mutations or polymorphisms associated with diseases, monitoring disease progression, and evaluating treatment effectiveness.

Chromosome mapping, also known as physical mapping, is the process of determining the location and order of specific genes or genetic markers on a chromosome. This is typically done by using various laboratory techniques to identify landmarks along the chromosome, such as restriction enzyme cutting sites or patterns of DNA sequence repeats. The resulting map provides important information about the organization and structure of the genome, and can be used for a variety of purposes, including identifying the location of genes associated with genetic diseases, studying evolutionary relationships between organisms, and developing genetic markers for use in breeding or forensic applications.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

A fetus is the developing offspring in a mammal, from the end of the embryonic period (approximately 8 weeks after fertilization in humans) until birth. In humans, the fetal stage of development starts from the eleventh week of pregnancy and continues until childbirth, which is termed as full-term pregnancy at around 37 to 40 weeks of gestation. During this time, the organ systems become fully developed and the body grows in size. The fetus is surrounded by the amniotic fluid within the amniotic sac and is connected to the placenta via the umbilical cord, through which it receives nutrients and oxygen from the mother. Regular prenatal care is essential during this period to monitor the growth and development of the fetus and ensure a healthy pregnancy and delivery.

RNA (Ribonucleic Acid) is a single-stranded, linear polymer of ribonucleotides. It is a nucleic acid present in the cells of all living organisms and some viruses. RNAs play crucial roles in various biological processes such as protein synthesis, gene regulation, and cellular signaling. There are several types of RNA including messenger RNA (mRNA), ribosomal RNA (rRNA), transfer RNA (tRNA), small nuclear RNA (snRNA), microRNA (miRNA), and long non-coding RNA (lncRNA). These RNAs differ in their structure, function, and location within the cell.

Erythroid cells are a type of blood cell that develops in the bone marrow and mature into red blood cells (RBCs), also known as erythrocytes. These cells play a crucial role in the body's oxygen-carrying capacity by transporting oxygen from the lungs to the body's tissues and carbon dioxide from the tissues to the lungs.

The development of erythroid cells begins with hematopoietic stem cells, which can differentiate into various types of blood cells. Through a series of maturation stages, including proerythroblasts, basophilic erythroblasts, polychromatophilic erythroblasts, and orthochromatic erythroblasts, these cells gradually lose their nuclei and organelles to become reticulocytes. Reticulocytes are immature RBCs that still contain some residual ribosomes and are released into the bloodstream. Over time, they mature into fully functional RBCs, which have a biconcave shape and a flexible membrane that allows them to navigate through small blood vessels.

Erythroid cells are essential for maintaining adequate oxygenation of body tissues, and their production is tightly regulated by various hormones and growth factors, such as erythropoietin (EPO), which stimulates the proliferation and differentiation of erythroid progenitor cells. Abnormalities in erythroid cell development or function can lead to various blood disorders, including anemia, polycythemia, and myelodysplastic syndromes.

Integrin α5β1, also known as very late antigen-5 (VLA-5) or fibronectin receptor, is a heterodimeric transmembrane receptor protein composed of two subunits: α5 and β1. This integrin is widely expressed in various cell types, including endothelial cells, smooth muscle cells, and fibroblasts.

Integrin α5β1 plays a crucial role in mediating cell-matrix adhesion by binding to the arginine-glycine-aspartic acid (RGD) sequence present in the extracellular matrix protein fibronectin. The interaction between integrin α5β1 and fibronectin is essential for various biological processes, such as cell migration, proliferation, differentiation, and survival. Additionally, this integrin has been implicated in several pathological conditions, including tumor progression, angiogenesis, and fibrosis.

Integrin beta4, also known as ITGB4 or CD104, is a type of integrin subunit that forms part of the integrin receptor along with an alpha subunit. Integrins are transmembrane proteins involved in cell-cell and cell-extracellular matrix (ECM) adhesion, signal transduction, and regulation of various cellular processes such as proliferation, differentiation, and migration.

Integrin beta4 is unique among the integrin subunits because it has a large cytoplasmic domain that can interact with several intracellular signaling molecules, making it an important regulator of cell behavior. Integrin beta4 is widely expressed in various tissues, including epithelial cells, endothelial cells, and hematopoietic cells.

Integrin beta4 forms heterodimers with integrin alpha6 to form the receptor for laminins, which are major components of the basement membrane. This receptor is involved in maintaining the integrity of epithelial tissues and regulating cell migration during development, tissue repair, and cancer progression. Mutations in ITGB4 have been associated with several human diseases, including epidermolysis bullosa, a group of inherited skin disorders characterized by fragile skin and blistering.

Erythroblasts are immature red blood cells that are produced in the bone marrow. They are also known as normoblasts and are a stage in the development of red blood cells, or erythrocytes. Erythroblasts are larger than mature red blood cells and have a nucleus, which is lost during the maturation process. These cells are responsible for producing hemoglobin, the protein that carries oxygen in the blood. Abnormal increases or decreases in the number of erythroblasts can be indicative of certain medical conditions, such as anemia or leukemia.

Electrophoresis, Agar Gel is a laboratory technique used to separate and analyze DNA, RNA, or proteins based on their size and electrical charge. In this method, the sample is mixed with agarose gel, a gelatinous substance derived from seaweed, and then solidified in a horizontal slab-like format. An electric field is applied to the gel, causing the negatively charged DNA or RNA molecules to migrate towards the positive electrode. The smaller molecules move faster through the gel than the larger ones, resulting in their separation based on size. This technique is widely used in molecular biology and genetics research, as well as in diagnostic testing for various genetic disorders.

Integrin α6β4 is a type of cell surface receptor that is composed of two subunits, α6 and β4. It is also known as CD49f/CD104. This integrin is primarily expressed in epithelial cells and plays important roles in cell adhesion, migration, and signal transduction.

Integrin α6β4 specifically binds to laminin-332 (also known as laminin-5), a component of the basement membrane, and forms a stable anchorage complex that links the cytoskeleton to the extracellular matrix. This interaction is critical for maintaining the integrity of epithelial tissues and regulating cell behavior during processes such as wound healing and tissue regeneration.

Mutations in the genes encoding integrin α6β4 have been associated with various human diseases, including epidermolysis bullosa, a group of inherited skin disorders characterized by fragile skin and blistering. Additionally, integrin α6β4 has been implicated in cancer progression and metastasis, as its expression is often upregulated in tumor cells and contributes to their invasive behavior.

Cell extracts refer to the mixture of cellular components that result from disrupting or breaking open cells. The process of obtaining cell extracts is called cell lysis. Cell extracts can contain various types of molecules, such as proteins, nucleic acids (DNA and RNA), carbohydrates, lipids, and metabolites, depending on the methods used for cell disruption and extraction.

Cell extracts are widely used in biochemical and molecular biology research to study various cellular processes and pathways. For example, cell extracts can be used to measure enzyme activities, analyze protein-protein interactions, characterize gene expression patterns, and investigate metabolic pathways. In some cases, specific cellular components can be purified from the cell extracts for further analysis or application, such as isolating pure proteins or nucleic acids.

It is important to note that the composition of cell extracts may vary depending on the type of cells, the growth conditions, and the methods used for cell disruption and extraction. Therefore, it is essential to optimize the experimental conditions to obtain representative and meaningful results from cell extract studies.

Integrin beta chains are a type of subunit that make up integrin receptors, which are heterodimeric transmembrane proteins involved in cell-cell and cell-extracellular matrix (ECM) adhesion. These receptors play crucial roles in various biological processes such as cell signaling, migration, proliferation, and differentiation.

Integrin beta chains combine with integrin alpha chains to form functional heterodimeric receptors. In humans, there are 18 different alpha subunits and 8 different beta subunits that can combine to form at least 24 distinct integrin receptors. The beta chain contributes to the cytoplasmic domain of the integrin receptor, which is involved in intracellular signaling and cytoskeletal interactions.

The beta chains are characterized by a conserved cytoplasmic region called the beta-tail domain, which interacts with various adaptor proteins to mediate downstream signaling events. Additionally, some integrin beta chains have a large inserted (I) domain in their extracellular regions that is responsible for ligand binding specificity.

Examples of integrin beta chains include β1, β2, β3, β4, β5, β6, β7, and β8, each with distinct functions and roles in various tissues and cell types. Mutations or dysregulation of integrin beta chains have been implicated in several human diseases, including cancer, inflammation, fibrosis, and developmental disorders.

Beta 2-glycoprotein I, also known as apolipoprotein H, is a plasma protein that belongs to the family of proteins called immunoglobulin-binding proteins. It has a molecular weight of approximately 44 kDa and is composed of five domains with similar structures.

Beta 2-glycoprotein I is primarily produced in the liver and circulates in the bloodstream, where it plays a role in several physiological processes, including coagulation, complement activation, and lipid metabolism. It has been identified as an autoantigen in certain autoimmune disorders, such as antiphospholipid syndrome (APS), where autoantibodies against beta 2-glycoprotein I can cause blood clots, miscarriages, and other complications.

In medical terminology, the definition of "beta 2-glycoprotein I" is as follows:

A plasma protein that belongs to the family of immunoglobulin-binding proteins and has a molecular weight of approximately 44 kDa. It is primarily produced in the liver and circulates in the bloodstream, where it plays a role in several physiological processes, including coagulation, complement activation, and lipid metabolism. Autoantibodies against beta 2-glycoprotein I are associated with certain autoimmune disorders, such as antiphospholipid syndrome (APS), where they can cause blood clots, miscarriages, and other complications.

Hemoglobin A is the most common form of hemoglobin, which is the oxygen-carrying protein in red blood cells. Hemoglobin A is a tetramer composed of two alpha and two beta globin chains, each containing a heme group that binds to oxygen. It is typically measured in laboratory tests to assess for various medical conditions such as anemia or diabetes. In the context of diabetes, the measurement of hemoglobin A1c (a form of hemoglobin A that is glycated or bound to glucose) is used to monitor long-term blood sugar control.

'Tumor cells, cultured' refers to the process of removing cancerous cells from a tumor and growing them in controlled laboratory conditions. This is typically done by isolating the tumor cells from a patient's tissue sample, then placing them in a nutrient-rich environment that promotes their growth and multiplication.

The resulting cultured tumor cells can be used for various research purposes, including the study of cancer biology, drug development, and toxicity testing. They provide a valuable tool for researchers to better understand the behavior and characteristics of cancer cells outside of the human body, which can lead to the development of more effective cancer treatments.

It is important to note that cultured tumor cells may not always behave exactly the same way as they do in the human body, so findings from cell culture studies must be validated through further research, such as animal models or clinical trials.

Gamma-globulins are a type of globulin, which are proteins found in the blood plasma. More specifically, gamma-globulins are a class of immunoglobulins, also known as antibodies, that play a crucial role in the immune system's response to foreign substances and infectious agents.

Immunoglobulins are divided into several classes based on their structure and function. Gamma-globulins include IgG, IgA, and IgD isotypes of immunoglobulins. Among these, IgG is the most abundant type found in the blood and other body fluids, responsible for providing protection against bacterial and viral infections.

Gamma-globulins are produced by B cells, a type of white blood cell involved in the immune response. They can be measured in the blood as part of a complete blood count (CBC) or specific protein electrophoresis tests to assess immune system function or diagnose various medical conditions such as infections, inflammation, and autoimmune disorders.

Integrin α4β1, also known as Very Late Antigen-4 (VLA-4), is a heterodimeric transmembrane receptor protein composed of two subunits, α4 and β1. It is involved in various cellular activities such as adhesion, migration, and signaling. This integrin plays a crucial role in the immune system by mediating the interaction between leukocytes (white blood cells) and the endothelial cells that line blood vessels. The activation of Integrin α4β1 allows leukocytes to roll along and then firmly adhere to the endothelium, followed by their migration into surrounding tissues, particularly during inflammation and immune responses. Additionally, Integrin α4β1 also interacts with extracellular matrix proteins such as fibronectin and helps regulate cell survival, proliferation, and differentiation in various cell types.

A clone is a group of cells that are genetically identical to each other because they are derived from a common ancestor cell through processes such as mitosis or asexual reproduction. Therefore, the term "clone cells" refers to a population of cells that are genetic copies of a single parent cell.

In the context of laboratory research, cells can be cloned by isolating a single cell and allowing it to divide in culture, creating a population of genetically identical cells. This is useful for studying the behavior and characteristics of individual cell types, as well as for generating large quantities of cells for use in experiments.

It's important to note that while clone cells are genetically identical, they may still exhibit differences in their phenotype (physical traits) due to epigenetic factors or environmental influences.

Restriction mapping is a technique used in molecular biology to identify the location and arrangement of specific restriction endonuclease recognition sites within a DNA molecule. Restriction endonucleases are enzymes that cut double-stranded DNA at specific sequences, producing fragments of various lengths. By digesting the DNA with different combinations of these enzymes and analyzing the resulting fragment sizes through techniques such as agarose gel electrophoresis, researchers can generate a restriction map - a visual representation of the locations and distances between recognition sites on the DNA molecule. This information is crucial for various applications, including cloning, genome analysis, and genetic engineering.

Integrin α2β1, also known as very late antigen-2 (VLA-2) or laminin receptor, is a heterodimeric transmembrane receptor protein composed of α2 and β1 subunits. It belongs to the integrin family of adhesion molecules that play crucial roles in cell-cell and cell-extracellular matrix (ECM) interactions.

Integrin α2β1 is widely expressed on various cell types, including fibroblasts, endothelial cells, smooth muscle cells, and some hematopoietic cells. It functions as a receptor for several ECM proteins, such as collagens (type I, II, III, and V), laminin, and fibronectin. The binding of integrin α2β1 to these ECM components mediates cell adhesion, migration, proliferation, differentiation, and survival, thereby regulating various physiological and pathological processes, such as tissue repair, angiogenesis, inflammation, and tumor progression.

In addition, integrin α2β1 has been implicated in several diseases, including fibrosis, atherosclerosis, and cancer. Therefore, targeting this integrin with therapeutic strategies may provide potential benefits for treating these conditions.

Adrenergic receptors are a type of G protein-coupled receptor that bind and respond to catecholamines, such as epinephrine (adrenaline) and norepinephrine (noradrenaline). Beta-2 adrenergic receptors (β2-ARs) are a subtype of adrenergic receptors that are widely distributed throughout the body, particularly in the lungs, heart, blood vessels, gastrointestinal tract, and skeletal muscle.

When β2-ARs are activated by catecholamines, they trigger a range of physiological responses, including relaxation of smooth muscle, increased heart rate and contractility, bronchodilation, and inhibition of insulin secretion. These effects are mediated through the activation of intracellular signaling pathways involving G proteins and second messengers such as cyclic AMP (cAMP).

β2-ARs have been a major focus of drug development for various medical conditions, including asthma, chronic obstructive pulmonary disease (COPD), heart failure, hypertension, and anxiety disorders. Agonists of β2-ARs, such as albuterol and salmeterol, are commonly used to treat asthma and COPD by relaxing bronchial smooth muscle and reducing airway obstruction. Antagonists of β2-ARs, such as propranolol, are used to treat hypertension, angina, and heart failure by blocking the effects of catecholamines on the heart and blood vessels.

Introns are non-coding sequences of DNA that are present within the genes of eukaryotic organisms, including plants, animals, and humans. Introns are removed during the process of RNA splicing, in which the initial RNA transcript is cut and reconnected to form a mature, functional RNA molecule.

After the intron sequences are removed, the remaining coding sequences, known as exons, are joined together to create a continuous stretch of genetic information that can be translated into a protein or used to produce non-coding RNAs with specific functions. The removal of introns allows for greater flexibility in gene expression and regulation, enabling the generation of multiple proteins from a single gene through alternative splicing.

In summary, introns are non-coding DNA sequences within genes that are removed during RNA processing to create functional RNA molecules or proteins.

"Cells, cultured" is a medical term that refers to cells that have been removed from an organism and grown in controlled laboratory conditions outside of the body. This process is called cell culture and it allows scientists to study cells in a more controlled and accessible environment than they would have inside the body. Cultured cells can be derived from a variety of sources, including tissues, organs, or fluids from humans, animals, or cell lines that have been previously established in the laboratory.

Cell culture involves several steps, including isolation of the cells from the tissue, purification and characterization of the cells, and maintenance of the cells in appropriate growth conditions. The cells are typically grown in specialized media that contain nutrients, growth factors, and other components necessary for their survival and proliferation. Cultured cells can be used for a variety of purposes, including basic research, drug development and testing, and production of biological products such as vaccines and gene therapies.

It is important to note that cultured cells may behave differently than they do in the body, and results obtained from cell culture studies may not always translate directly to human physiology or disease. Therefore, it is essential to validate findings from cell culture experiments using additional models and ultimately in clinical trials involving human subjects.

High-performance liquid chromatography (HPLC) is a type of chromatography that separates and analyzes compounds based on their interactions with a stationary phase and a mobile phase under high pressure. The mobile phase, which can be a gas or liquid, carries the sample mixture through a column containing the stationary phase.

In HPLC, the mobile phase is a liquid, and it is pumped through the column at high pressures (up to several hundred atmospheres) to achieve faster separation times and better resolution than other types of liquid chromatography. The stationary phase can be a solid or a liquid supported on a solid, and it interacts differently with each component in the sample mixture, causing them to separate as they travel through the column.

HPLC is widely used in analytical chemistry, pharmaceuticals, biotechnology, and other fields to separate, identify, and quantify compounds present in complex mixtures. It can be used to analyze a wide range of substances, including drugs, hormones, vitamins, pigments, flavors, and pollutants. HPLC is also used in the preparation of pure samples for further study or use.

HeLa cells are a type of immortalized cell line used in scientific research. They are derived from a cancer that developed in the cervical tissue of Henrietta Lacks, an African-American woman, in 1951. After her death, cells taken from her tumor were found to be capable of continuous division and growth in a laboratory setting, making them an invaluable resource for medical research.

HeLa cells have been used in a wide range of scientific studies, including research on cancer, viruses, genetics, and drug development. They were the first human cell line to be successfully cloned and are able to grow rapidly in culture, doubling their population every 20-24 hours. This has made them an essential tool for many areas of biomedical research.

It is important to note that while HeLa cells have been instrumental in numerous scientific breakthroughs, the story of their origin raises ethical questions about informed consent and the use of human tissue in research.

The liver is a large, solid organ located in the upper right portion of the abdomen, beneath the diaphragm and above the stomach. It plays a vital role in several bodily functions, including:

1. Metabolism: The liver helps to metabolize carbohydrates, fats, and proteins from the food we eat into energy and nutrients that our bodies can use.
2. Detoxification: The liver detoxifies harmful substances in the body by breaking them down into less toxic forms or excreting them through bile.
3. Synthesis: The liver synthesizes important proteins, such as albumin and clotting factors, that are necessary for proper bodily function.
4. Storage: The liver stores glucose, vitamins, and minerals that can be released when the body needs them.
5. Bile production: The liver produces bile, a digestive juice that helps to break down fats in the small intestine.
6. Immune function: The liver plays a role in the immune system by filtering out bacteria and other harmful substances from the blood.

Overall, the liver is an essential organ that plays a critical role in maintaining overall health and well-being.

RNA splicing is a post-transcriptional modification process in which the non-coding sequences (introns) are removed and the coding sequences (exons) are joined together in a messenger RNA (mRNA) molecule. This results in a continuous mRNA sequence that can be translated into a single protein. Alternative splicing, where different combinations of exons are included or excluded, allows for the creation of multiple proteins from a single gene.

Truncated hemoglobins are a group of hemoglobin variants that lack the normal C-terminal extension of the beta-globin chain. They were first identified in organisms living in extreme environments, such as bacteria found in deep-sea hydrothermal vents and in animals adapted to high-altitude hypoxia. These hemoglobins have unique structural and functional properties that allow them to function efficiently under low oxygen concentrations.

Truncated hemoglobins are characterized by the absence of the last 1-3 amino acids at the C-terminus of the beta-globin chain, which results in a more compact structure compared to normal hemoglobin. This structural difference leads to altered oxygen binding properties and increased stability under extreme conditions.

Truncated hemoglobins have been studied for their potential applications in biotechnology and medicine, particularly in the development of new strategies for the treatment of hypoxia-related disorders such as ischemia, stroke, and cancer. However, further research is needed to fully understand their mechanisms of action and therapeutic potential.

In the context of medicine and pharmacology, "kinetics" refers to the study of how a drug moves throughout the body, including its absorption, distribution, metabolism, and excretion (often abbreviated as ADME). This field is called "pharmacokinetics."

1. Absorption: This is the process of a drug moving from its site of administration into the bloodstream. Factors such as the route of administration (e.g., oral, intravenous, etc.), formulation, and individual physiological differences can affect absorption.

2. Distribution: Once a drug is in the bloodstream, it gets distributed throughout the body to various tissues and organs. This process is influenced by factors like blood flow, protein binding, and lipid solubility of the drug.

3. Metabolism: Drugs are often chemically modified in the body, typically in the liver, through processes known as metabolism. These changes can lead to the formation of active or inactive metabolites, which may then be further distributed, excreted, or undergo additional metabolic transformations.

4. Excretion: This is the process by which drugs and their metabolites are eliminated from the body, primarily through the kidneys (urine) and the liver (bile).

Understanding the kinetics of a drug is crucial for determining its optimal dosing regimen, potential interactions with other medications or foods, and any necessary adjustments for special populations like pediatric or geriatric patients, or those with impaired renal or hepatic function.

Integrins are a type of cell-adhesion molecule that play a crucial role in cell-cell and cell-extracellular matrix (ECM) interactions. They are heterodimeric transmembrane receptors composed of non-covalently associated α and β subunits, which form more than 24 distinct integrin heterodimers in humans.

Integrins bind to specific ligands, such as ECM proteins (e.g., collagen, fibronectin, laminin), cell surface molecules, and soluble factors, through their extracellular domains. The intracellular domains of integrins interact with the cytoskeleton and various signaling proteins, allowing them to transduce signals from the ECM into the cell (outside-in signaling) and vice versa (inside-out signaling).

These molecular interactions are essential for numerous biological processes, including cell adhesion, migration, proliferation, differentiation, survival, and angiogenesis. Dysregulation of integrin function has been implicated in various pathological conditions, such as cancer, fibrosis, inflammation, and autoimmune diseases.

Alpha-thalassemia is a genetic disorder that affects the production of hemoglobin, a protein in red blood cells that carries oxygen throughout the body. It is caused by deletions or mutations in the genes that produce the alpha-globin chains of hemoglobin.

There are several types of alpha-thalassemia, ranging from mild to severe. The most severe form, called hydrops fetalis, occurs when all four alpha-globin genes are deleted or mutated. This can cause stillbirth or death shortly after birth due to heart failure and severe anemia.

Less severe forms of alpha-thalassemia can cause mild to moderate anemia, which may be asymptomatic or associated with symptoms such as fatigue, weakness, and jaundice. These forms of the disorder are more common in people from Mediterranean, Southeast Asian, and African backgrounds.

Treatment for alpha-thalassemia depends on the severity of the condition and may include blood transfusions, iron chelation therapy, or occasionally stem cell transplantation.

Interleukin-1 (IL-1) is a type of cytokine, which are proteins that play a crucial role in cell signaling. Specifically, IL-1 is a pro-inflammatory cytokine that is involved in the regulation of immune and inflammatory responses in the body. It is produced by various cells, including monocytes, macrophages, and dendritic cells, in response to infection or injury.

IL-1 exists in two forms, IL-1α and IL-1β, which have similar biological activities but are encoded by different genes. Both forms of IL-1 bind to the same receptor, IL-1R, and activate intracellular signaling pathways that lead to the production of other cytokines, chemokines, and inflammatory mediators.

IL-1 has a wide range of biological effects, including fever induction, activation of immune cells, regulation of hematopoiesis (the formation of blood cells), and modulation of bone metabolism. Dysregulation of IL-1 production or activity has been implicated in various inflammatory diseases, such as rheumatoid arthritis, gout, and inflammatory bowel disease. Therefore, IL-1 is an important target for the development of therapies aimed at modulating the immune response and reducing inflammation.

CD29, also known as integrin β1, is a type of cell surface protein called an integrin that forms heterodimers with various α subunits to form different integrin receptors. These integrin receptors play important roles in various biological processes such as cell adhesion, migration, and signaling.

CD29/integrin β1 is widely expressed on many types of cells including leukocytes, endothelial cells, epithelial cells, and fibroblasts. It can bind to several extracellular matrix proteins such as collagen, laminin, and fibronectin, and mediate cell-matrix interactions. CD29/integrin β1 also participates in intracellular signaling pathways that regulate cell survival, proliferation, differentiation, and migration.

CD29/integrin β1 can function as an antigen, which is a molecule capable of inducing an immune response. Antibodies against CD29/integrin β1 have been found in some autoimmune diseases such as rheumatoid arthritis and systemic lupus erythematosus (SLE). These antibodies can contribute to the pathogenesis of these diseases by activating complement, inducing inflammation, and damaging tissues.

Therefore, CD29/integrin β1 is an important molecule in both physiological and pathological processes, and its functions as an antigen have been implicated in some autoimmune disorders.

Integrin α6β1, also known as CD49f/CD29, is a heterodimeric transmembrane receptor protein composed of α6 and β1 subunits. It is widely expressed in various tissues, including epithelial cells, endothelial cells, fibroblasts, and hematopoietic cells. Integrin α6β1 plays a crucial role in cell-matrix adhesion, particularly to the laminin component of the extracellular matrix (ECM). This receptor is involved in various biological processes such as cell migration, proliferation, differentiation, and survival. Additionally, integrin α6β1 has been implicated in tumor progression, metastasis, and drug resistance in certain cancers.

The NF-E2 (Nuclear Factor, Erythroid-derived 2) transcription factor is a heterodimeric protein that plays a crucial role in the regulation of gene expression. It is composed of two subunits: p18 and p45. The p45 subunit, also known as NFE2L2 or GABPalpha, is a member of the basic region-leucine zipper (bZIP) family of transcription factors.

The p45 subunit forms a complex with the p18 subunit, and this complex binds to specific DNA sequences called antioxidant response elements (AREs) or electrophile response elements (EpREs), which are present in the promoter regions of various genes involved in cellular defense against oxidative stress and xenobiotic metabolism.

The p45 subunit is responsible for recognizing and binding to the DNA sequence, while the p18 subunit stabilizes the complex and enhances its DNA-binding affinity. Together, they regulate the expression of genes involved in heme biosynthesis, cytochrome P450 activity, antioxidant defense, and other cellular processes.

Mutations in the NFE2L2 gene, which encodes the p45 subunit, have been associated with various diseases, including chronic obstructive pulmonary disease (COPD), neurodegenerative disorders, and cancer.

In situ hybridization, fluorescence (FISH) is a type of molecular cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes through the use of fluorescent probes. This technique allows for the direct visualization of genetic material at a cellular level, making it possible to identify chromosomal abnormalities such as deletions, duplications, translocations, and other rearrangements.

The process involves denaturing the DNA in the sample to separate the double-stranded molecules into single strands, then adding fluorescently labeled probes that are complementary to the target DNA sequence. The probe hybridizes to the complementary sequence in the sample, and the location of the probe is detected by fluorescence microscopy.

FISH has a wide range of applications in both clinical and research settings, including prenatal diagnosis, cancer diagnosis and monitoring, and the study of gene expression and regulation. It is a powerful tool for identifying genetic abnormalities and understanding their role in human disease.

Heme is not a medical term per se, but it is a term used in the field of medicine and biology. Heme is a prosthetic group found in hemoproteins, which are proteins that contain a heme iron complex. This complex plays a crucial role in various biological processes, including oxygen transport (in hemoglobin), electron transfer (in cytochromes), and chemical catalysis (in peroxidases and catalases).

The heme group consists of an organic component called a porphyrin ring, which binds to a central iron atom. The iron atom can bind or release electrons, making it essential for redox reactions in the body. Heme is also vital for the formation of hemoglobin and myoglobin, proteins responsible for oxygen transport and storage in the blood and muscles, respectively.

In summary, heme is a complex organic-inorganic structure that plays a critical role in several biological processes, particularly in electron transfer and oxygen transport.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Beta-1 adrenergic receptors (also known as β1-adrenergic receptors) are a type of G protein-coupled receptor found in the cell membrane. They are activated by the catecholamines, particularly noradrenaline (norepinephrine) and adrenaline (epinephrine), which are released by the sympathetic nervous system as part of the "fight or flight" response.

When a catecholamine binds to a β1-adrenergic receptor, it triggers a series of intracellular signaling events that ultimately lead to an increase in the rate and force of heart contractions, as well as an increase in renin secretion from the kidneys. These effects help to prepare the body for physical activity by increasing blood flow to the muscles and improving the efficiency of the cardiovascular system.

In addition to their role in the regulation of cardiovascular function, β1-adrenergic receptors have been implicated in a variety of physiological processes, including lipolysis (the breakdown of fat), glucose metabolism, and the regulation of mood and cognition.

Dysregulation of β1-adrenergic receptor signaling has been linked to several pathological conditions, including heart failure, hypertension, and anxiety disorders. As a result, β1-adrenergic receptors are an important target for the development of therapeutics used in the treatment of these conditions.

Nuclear factor, erythroid-derived 2 (NFE2), also known as NF-E2 transcription factor, is a protein that plays a crucial role in the regulation of gene expression. It belongs to the cap'n'collar (CNC) subfamily of basic region-leucine zipper (bZIP) transcription factors.

NFE2 forms a heterodimer with small Maf proteins and binds to antioxidant response elements (AREs) in the promoter regions of target genes. These target genes are often involved in cellular defense against oxidative stress, electrophiles, and inflammation. NFE2 regulates the expression of various enzymes and proteins that protect cells from damage caused by reactive oxygen species (ROS) and other harmful substances.

Mutations in the NFE2 gene have been associated with several diseases, including chronic obstructive pulmonary disease (COPD), acute respiratory distress syndrome (ARDS), and certain types of cancer. Proper regulation of NFE2 is essential for maintaining cellular homeostasis and preventing the development of various pathological conditions.

Integrin α1β1, also known as Very Late Antigen-1 (VLA-1) or CD49a/CD29, is a heterodimeric transmembrane receptor protein composed of α1 and β1 subunits. It belongs to the integrin family of adhesion molecules that play crucial roles in cell-cell and cell-extracellular matrix (ECM) interactions.

Integrin α1β1 is primarily expressed on various cell types, including fibroblasts, endothelial cells, smooth muscle cells, and some immune cells. This integrin binds to several ECM proteins, such as collagens (type I, II, III, IV), laminin, and fibronectin, mediating cell adhesion, migration, proliferation, differentiation, and survival. Additionally, α1β1 integrin has been implicated in various physiological and pathological processes, such as tissue repair, fibrosis, and tumor progression.

An allele is a variant form of a gene that is located at a specific position on a specific chromosome. Alleles are alternative forms of the same gene that arise by mutation and are found at the same locus or position on homologous chromosomes.

Each person typically inherits two copies of each gene, one from each parent. If the two alleles are identical, a person is said to be homozygous for that trait. If the alleles are different, the person is heterozygous.

For example, the ABO blood group system has three alleles, A, B, and O, which determine a person's blood type. If a person inherits two A alleles, they will have type A blood; if they inherit one A and one B allele, they will have type AB blood; if they inherit two B alleles, they will have type B blood; and if they inherit two O alleles, they will have type O blood.

Alleles can also influence traits such as eye color, hair color, height, and other physical characteristics. Some alleles are dominant, meaning that only one copy of the allele is needed to express the trait, while others are recessive, meaning that two copies of the allele are needed to express the trait.

Dimethyl Sulfoxide (DMSO) is an organosulfur compound with the formula (CH3)2SO. It is a polar aprotic solvent, which means it can dissolve both polar and nonpolar compounds. DMSO has a wide range of uses in industry and in laboratory research, including as a cryoprotectant, a solvent for pharmaceuticals, and a penetration enhancer in topical formulations.

In medicine, DMSO is used as a topical analgesic and anti-inflammatory agent. It works by increasing the flow of blood and other fluids to the site of application, which can help to reduce pain and inflammation. DMSO is also believed to have antioxidant properties, which may contribute to its therapeutic effects.

It's important to note that while DMSO has been studied for various medical uses, its effectiveness for many conditions is not well established, and it can have side effects, including skin irritation and a garlic-like taste or odor in the mouth after application. It should be used under the supervision of a healthcare provider.

Recombinant proteins are artificially created proteins produced through the use of recombinant DNA technology. This process involves combining DNA molecules from different sources to create a new set of genes that encode for a specific protein. The resulting recombinant protein can then be expressed, purified, and used for various applications in research, medicine, and industry.

Recombinant proteins are widely used in biomedical research to study protein function, structure, and interactions. They are also used in the development of diagnostic tests, vaccines, and therapeutic drugs. For example, recombinant insulin is a common treatment for diabetes, while recombinant human growth hormone is used to treat growth disorders.

The production of recombinant proteins typically involves the use of host cells, such as bacteria, yeast, or mammalian cells, which are engineered to express the desired protein. The host cells are transformed with a plasmid vector containing the gene of interest, along with regulatory elements that control its expression. Once the host cells are cultured and the protein is expressed, it can be purified using various chromatography techniques.

Overall, recombinant proteins have revolutionized many areas of biology and medicine, enabling researchers to study and manipulate proteins in ways that were previously impossible.

Genetic polymorphism refers to the occurrence of multiple forms (called alleles) of a particular gene within a population. These variations in the DNA sequence do not generally affect the function or survival of the organism, but they can contribute to differences in traits among individuals. Genetic polymorphisms can be caused by single nucleotide changes (SNPs), insertions or deletions of DNA segments, or other types of genetic rearrangements. They are important for understanding genetic diversity and evolution, as well as for identifying genetic factors that may contribute to disease susceptibility in humans.

Macromolecular substances, also known as macromolecules, are large, complex molecules made up of repeating subunits called monomers. These substances are formed through polymerization, a process in which many small molecules combine to form a larger one. Macromolecular substances can be naturally occurring, such as proteins, DNA, and carbohydrates, or synthetic, such as plastics and synthetic fibers.

In the context of medicine, macromolecular substances are often used in the development of drugs and medical devices. For example, some drugs are designed to bind to specific macromolecules in the body, such as proteins or DNA, in order to alter their function and produce a therapeutic effect. Additionally, macromolecular substances may be used in the creation of medical implants, such as artificial joints and heart valves, due to their strength and durability.

It is important for healthcare professionals to have an understanding of macromolecular substances and how they function in the body, as this knowledge can inform the development and use of medical treatments.

Glycogen Synthase Kinase 3 (GSK-3) is a serine/threonine protein kinase that plays a crucial role in the regulation of several cellular processes, including glycogen metabolism, cell signaling, gene transcription, and apoptosis. It was initially discovered as a key enzyme involved in glycogen metabolism due to its ability to phosphorylate and inhibit glycogen synthase, an enzyme responsible for the synthesis of glycogen from glucose.

GSK-3 exists in two isoforms, GSK-3α and GSK-3β, which share a high degree of sequence similarity and are widely expressed in various tissues. Both isoforms are constitutively active under normal conditions and are regulated through inhibitory phosphorylation by several upstream signaling pathways, such as insulin, Wnt, and Hedgehog signaling.

Dysregulation of GSK-3 has been implicated in the pathogenesis of various diseases, including diabetes, neurodegenerative disorders, and cancer. In recent years, GSK-3 has emerged as an attractive therapeutic target for the development of novel drugs to treat these conditions.

Transfection is a term used in molecular biology that refers to the process of deliberately introducing foreign genetic material (DNA, RNA or artificial gene constructs) into cells. This is typically done using chemical or physical methods, such as lipofection or electroporation. Transfection is widely used in research and medical settings for various purposes, including studying gene function, producing proteins, developing gene therapies, and creating genetically modified organisms. It's important to note that transfection is different from transduction, which is the process of introducing genetic material into cells using viruses as vectors.

... flanking region of the beta-globin gene. The CoTC core is highly conserved in the 3' UTR of other primate beta-globin genes. ... Page for Beta-globin co-transcriptional cleavage ribozyme at Rfam v t e v t e (Orphaned articles from May 2016, All orphaned ... The Beta-globin co-transcriptional cleavage ribozyme (CotC ribozyme) was proposed to be an RNA enzyme known as a ribozyme. ... This process is also referred to as co-transcriptional cleavage (CoTC). The CoTC process in the human beta-globin gene was ...
This locus contains not only the beta globin gene but also delta, gamma-A, gamma-G, and epsilon globin. Expression of all of ... The order of the genes in the beta-globin cluster is: 5' - epsilon - gamma-G - gamma-A - delta - beta - 3'. The arrangement of ... Frischknecht H, Dutly F (Mar 2007). "A 65 bp duplication/insertion in exon II of the beta globin gene causing beta0-thalassemia ... Levings PP, Bungert J (Mar 2002). "The human beta-globin locus control region". European Journal of Biochemistry. 269 (6): 1589 ...
The order of the genes in the beta-globin cluster is: 5' - epsilon - gamma-G - gamma-A - delta - beta - 3'. GRCh38: Ensembl ... 1977). "Human beta-globin messenger RNA. I. Nucleotide sequences derived from complementary RNA". J. Biol. Chem. 252 (14): 5019 ... 1993). "Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemia". Hemoglobin. 16 (6): 503-9. doi: ... 1994). "Reexamination of the African hominoid trichotomy with additional sequences from the primate beta-globin gene cluster". ...
The globin gene family is an elaborate network of genes consisting of alpha and beta globin genes including genes that are ... Goodman M, Koop BF, Czelusniak J, Weiss ML (December 1984). "The eta-globin gene. Its long evolutionary history in the beta- ... These globin genes in the globin family are all well conserved and only differ by a small portion of the gene, indicating that ... An example of a gene family that may have been created due to copy number variations is the globin gene family. ...
I. Helical regions of human alpha and beta globins". Biochemical and Biophysical Research Communications. 97 (3): 868-874. doi: ...
The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5' - epsilon - gamma- ... Tuan D, Solomon W, Li Q, London IM (1985). "The "beta-like-globin" gene domain in human erythroid cells". Proc. Natl. Acad. Sci ... 1977). "Human beta-globin messenger RNA. I. Nucleotide sequences derived from complementary RNA". J. Biol. Chem. 252 (14): 5019 ... Ruskin B, Greene JM, Green MR (1985). "Cryptic branch point activation allows accurate in vitro splicing of human beta-globin ...
Isolation and characterization of the complete chicken beta-globin gene region: frequent deletion of the adult beta-globin ... Villeponteau, B., Landes, G.M., Pankratz, M.J., and Martinson, H.G. (1982). The chicken beta globin gene region. Delineation of ... Lois, R., Freeman, L., Villeponteau, B., and Martinson, H.G. (1990). Active beta-globin gene transcription occurs in methylated ... Gamma rays and bleomycin nick DNA and reverse the DNase I sensitivity of beta-globin gene chromatin in vivo. Molecular and ...
This test is used to investigate deletions and mutations in the alpha- and beta-globin-producing genes. Family studies can be ... Beta thalassemia minor can also present as beta thalassemia silent carriers; those who inherit a beta thalassemic mutation but ... Beta thalassemia trait (also known as beta thalassemia minor) involves heterozygous inheritance of a beta-thalassemia mutation ... Most often, mutations occur in the promoter regions preceding the beta-globin genes. Less often, abnormal splice variants are ...
... (beta globin, β-globin, haemoglobin beta, hemoglobin beta) is a globin protein, coded for by the HBB ... Expression of beta globin and the neighbouring globins in the β-globin locus is controlled by single locus control region (LCR ... Beta thalassemia is an inherited genetic mutation in one (Beta thalassemia minor) or both (Beta thalassemia major) of the Beta ... The order of the genes in the beta-globin cluster is 5' - epsilon - gamma-G - gamma-A - delta - beta - 3'. HBB interacts with ...
These studies determined that the LCR was required for normal regulation of beta-globin gene expression. Evidence of the ... The β-globin LCR in mice and humans is found 6-22 kb upstream of the first globin gene (epsilon). It controls the following ... Levings PP, Bungert J (March 2002). "The human beta-globin locus control region". European Journal of Biochemistry. 269 (6): ... Although the name implies that the LCR is limited to a single region, this implication only applies to the β-globin LCR (HBB- ...
Voon HP, Vadolas J (Dec 2008). "Controlling alpha-globin: a review of alpha-globin expression and its impact on beta- ... Sharma V, Kumar B, Kumar G, Saxena R (Oct 2009). "Alpha globin gene numbers: an important modifier of HbE/beta thalassemia". ... The human alpha globin gene cluster is located on chromosome 16 and spans about 30 kb, including seven alpha like globin genes ... "alpha-thalassaemia masked by beta gene defects and a new polyadenylation site mutation on the alpha2-globin gene". European ...
Differences in the regulated expression of cloned human alpha globin and beta globin genes introduced into MEL cells: the role ... Basis for regulating the expression of human alpha- and beta-globin genes. Discovery of a family of vertebrate genes encoding ... Transcriptional regulation of globin gene expression in the human erythroid cell line K562 », Science, (1983), 220, p. 1281- ... where he studied the molecular basis for the regulation of globin gene expression. In 1984, he joined the European Molecular ...
This model has been demonstrated by the previous work on the beta-globin locus. The binding of CTCF has been shown to have many ... Farrell CM, West AG, Felsenfeld G (2002). "Conserved CTCF insulator elements flank the mouse and human beta-globin loci". Mol. ... Vostrov AA, Quitschke WW (1998). "The zinc finger protein CTCF binds to the APBbeta domain of the amyloid beta-protein ...
"Nonuniform recombination within the human beta-globin gene cluster". American Journal of Human Genetics. 36 (6): 1239-1258. ... Phillips, J. A.; Snyder, P. G.; Kazazian, H. H. (September 1977). "Ratios of α-to β-globin mRNA and regulation of globin ... "Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster". ... Orkin, Stuart H.; Kazazian, Haig H. (1 December 1984). "The mutation and polymorphism of the human β-globin gene and its ...
Banerji J, Rusconi S, Schaffner W (December 1981). "Expression of a beta-globin gene is enhanced by remote SV40 DNA sequences ... high-level expression of the human beta-globin gene in transgenic mice". Cell. 51 (6): 975-85. doi:10.1016/0092-8674(87)90584-8 ... Evans T, Felsenfeld G, Reitman M (1990). "Control of globin gene transcription". Annual Review of Cell Biology. 6: 95-124. doi: ...
"Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in ...
"Insertion of DNA sequences into the human chromosomal beta-globin locus by homologous recombination". Nature. 317 (6034): 230-4 ...
Tito published the sequence of the messenger RNA coding for beta-globin, the first complete primary structure of a eukaryotic ... "The structure and evolution of the human beta-globin gene family". Cell. 21 (3): 653-68. doi:10.1016/0092-8674(80)90429-8. ISSN ... "The structure and evolution of the human beta-globin gene family". Cell. 21 (3): 653-668. doi:10.1016/0092-8674(80)90429-8. ... In 1979, his research group isolated the gene for epsilon-globin (HBE1), a component of human embryonic hemoglobin. He was one ...
... beta-globins and alpha-globins. Beta-hemoglobin is created from the genetic information on the HBB, or "hemoglobin, beta" gene ... The single nucleotide change in the beta-globin means that even the smallest of exertions on the part of the carrier results in ... The single replacement of the sixth amino acid in the beta-globin, glutamic acid, with valine results in deformed red blood ... The β-globin gene is found on the short arm of chromosome 11. The association of two wild-type α-globin subunits with two ...
Onishi Y, Kiyama R (2003). "Interaction of NF-E2 in the human beta-globin locus control region before chromatin remodeling". J ... Blank V, Kim MJ, Andrews NC (1997). "Human MafG is a functional partner for p45 NF-E2 in activating globin gene expression". ... Strauss EC, Andrews NC, Higgs DR, Orkin SH (1992). "In vivo footprinting of the human alpha-globin locus upstream regulatory ... analysis of its role in globin and GCSl genes regulation". Blood Cells Mol. Dis. 29 (2): 145-58. doi:10.1006/bcmd.2002.0550. ...
Tanabe O, Katsuoka F, Campbell AD, Song W, Yamamoto M, Tanimoto K, Engel JD (Jul 2002). "An embryonic/fetal beta-type globin ...
Her dissertation was titled The organization of repetitive sequences in two cloned mouse beta-globin clusters. Haigwood ... Haigwood, Nancy Logan (1980). "The organization of repetitive sequences in two cloned mouse beta-globin clusters". The ...
The Beta-Globin Gene Cluster Distribution Revisited-Patterns in Native American Populations. Archived September 10, 2008, at ...
... and beta-globin loci. ACHs are formed through extensive DNA looping to form a "hub" of regulatory elements in order to ... "Looping and interaction between hypersensitive sites in the active beta-globin locus". Molecular Cell. 10 (6): 1453-65. doi: ...
Costantini F, Lacy E (November 1981). "Introduction of a rabbit beta-globin gene into the mouse germ line". Nature. 294 (5836 ... "Cloned transgenic cattle produce milk with higher levels of beta-casein and kappa-casein". Nature Biotechnology. 21 (2): 157-62 ...
... and delta-genes influences beta-globin gene expression in man". Nature. 283 (5748): 637-42. Bibcode:1980Natur.283..637V. doi: ... For example, in tissues that express globin genes, the β-globin locus control region forms a loop with these genes. This loop ... "Looping and interaction between hypersensitive sites in the active beta-globin locus". Molecular Cell. 10 (6): 1453-65. doi: ... Beta thalassemia is a certain type of blood disorder caused by a deletion of LCR enhancer element. Holoprosencephaly is ...
"The structure and transcription of four linked rabbit beta-like globin genes". Cell. 18 (4): 1285-1297. doi:10.1016/0092-8674( ...
Costantini F, Lacy E (November 1981). "Introduction of a rabbit beta-globin gene into the mouse germ line". Nature. 294 (5836 ... It has been engineered with three genes that biosynthesise beta-carotene, a precursor of vitamin A, in the edible parts of rice ... Jefferson RA, Kavanagh TA, Bevan MW (December 1987). "GUS fusions: beta-glucuronidase as a sensitive and versatile gene fusion ... beta-carotene) biosynthetic pathway into (carotenoid-free) rice endosperm". Science. 287 (5451): 303-5. Bibcode:2000Sci...287.. ...
... beta InterPro: IPR002337 Hemoglobin, alpha InterPro: IPR002338 Myoglobin, trematode type InterPro: IPR011406 Globin, nematode ... The globin fold is found in its namesake globin families as well as in phycocyanins. The globin fold was thus the first protein ... Globin E: a globin responsible for storing and delivering oxygen to the retina in birds Globin-coupled sensors: chimeric, with ... Eight globins are known to occur in vertebrates: androglobin (Adgb), cytoglobin (Cygb), globin E (GbE, from bird eye), globin X ...
Nagai, K.; Thøgersen, H. C. (1984). "Generation of beta-globin by sequence-specific proteolysis of a hybrid protein produced in ...
... beta-globin type is a condition that affects the function of red blood cells. Explore symptoms, inheritance, genetics of this ... HBB gene mutations that cause methemoglobinemia, beta-globin type change the structure of beta-globin and promote the heme iron ... This gene provides instructions for making a protein called beta-globin. Beta-globin is one of four components (subunits) that ... medlineplus.gov/genetics/condition/methemoglobinemia-beta-globin-type/ Methemoglobinemia, beta-globin type. ...
... flanking region of the beta-globin gene. The CoTC core is highly conserved in the 3 UTR of other primate beta-globin genes. ... Page for Beta-globin co-transcriptional cleavage ribozyme at Rfam v t e v t e (Orphaned articles from May 2016, All orphaned ... The Beta-globin co-transcriptional cleavage ribozyme (CotC ribozyme) was proposed to be an RNA enzyme known as a ribozyme. ... This process is also referred to as co-transcriptional cleavage (CoTC). The CoTC process in the human beta-globin gene was ...
Beta-Globin Deletions; HERED Persist of Fetal HB (Deletional); HERED Persist of Fetal HEMO (Deletional); Beta-Globin ...
Hemo globin synthesis in somatic cell hybrids independent segregation of the human alpha globin and beta globin genes Science ... DNA from three hybrid lines was also annealed to purified human gamma globin cDNA; two lines positive for human beta globin ... High-resolution chromosomal localization of the beta-gene of the human beta-globin gene complex by in situ hybridization ... On the basis of these results, the human beta and gamma globin genes have been assigned to human chromosome 11.. PDF emailed ...
Intervening sequence of DNA identified in the structural portion of a mouse beta-globin gene. scientific article published on ... Intervening sequence of DNA identified in the structural portion of a mouse beta-globin gene (English) ... Purification of globin messenger RNA from dimethylsulfoxide-induced Friend cells and detection of a putative globin messenger ... Presence of a putative 15S precursor to β-globin mRNA but not to α-globin mRNA in Friend cells ...
Hemoglobin beta (beta-globin).. Clone. PLA114. Format. purified monoclonal, lyophilized. Application. IHC; ELISA. Reacts with. ...
The beta-globin dominant control region. Greaves DR., Antoniou M., van Assendelft GB., Collis P., Dillon N., Hanscombe O., ... Animals, Gene Expression Regulation, Genes, Globins, Humans, Mice, Mice, Transgenic, Recombinant Fusion Proteins, Regulatory ...
Attend classes, ask doubts, give mock tests, and much more from the comfort of your home ...
... thalassemia syndromes are a group of hereditary disorders characterized by a genetic deficiency in the synthesis of beta-globin ... In the homozygous state, beta thalassemia (ie, thalassemia major) causes severe, transfusion-dependent anemia. ... Beta-globin gene mutations. Mutations in globin genes cause thalassemias. Beta thalassemia affects one or both of the beta- ... homozygous beta thalassemia), the production of the beta-globin chains is severely impaired because both beta-globin genes are ...
Direct measurement of the male recombination fraction in the human beta-globin hot spot Share Share Share ... Direct measurement of the male recombination fraction in the human beta-globin hot spot ...
Did the high-altitude populations of two Andean duck species acquire identical variation in beta-globin genes by chance ... Behind the Paper: Graham Allie M. et al.. High-altitude adaptive introgression of beta-globin in two Andean waterfowl. Heredity ... Adaptive introgression of the beta-globin cluster in two Andean ducks. Did the high-altitude populations of two Andean duck ... Adaptive introgression of the beta-globin cluster in two Andean ducks. Did the high-altitude populations of two Andean duck ...
Orkin, S. H. ; Antonarakis, S. E. ; Kazazian, H. H. / Polymorphism and molecular pathology of the human beta-globin gene. In: ... Polymorphism and molecular pathology of the human beta-globin gene. / Orkin, S. H.; Antonarakis, S. E.; Kazazian, H. H. In: ... Orkin, S. H., Antonarakis, S. E., & Kazazian, H. H. (1983). Polymorphism and molecular pathology of the human beta-globin gene. ... Orkin, SH, Antonarakis, SE & Kazazian, HH 1983, Polymorphism and molecular pathology of the human beta-globin gene., Progress ...
Characterisation of Three Unique Head-to-Tail Alpha Globin Cluster Duplications Contributing to Beta Thalassemia Intermedia in ... Characterisation of Three Unique Head-to-Tail Alpha Globin Cluster Duplications Contributing to Beta Thalassemia Intermedia in ...
These results imply that the more severe phenotype may be due to a second defect, possibly unlinked to the beta-globin cluster ... globin chain biosynthesis studies showed that the probands had considerably greater alpha:beta chain imbalance. ... Like most beta-thalassemia mutations, it normally exhibits recessive inheritance. We investigated the unusually severe ... Although the reticulocyte alpha:beta mRNA ratios in the two probands were within the range observed in the asymptomatic ...
Prenatal Diagnosis and Frequency Determination of alpha and beta Thalassemia, S, D, C, and H Hemoglobinopathies Globin ... Results of other hemoglobinopathy mutational genes analysis showed the frequency of S, D, C, and α-globin mutational gene to be ... Zandian K, Keikhaie B, Pedram M, Kianpoor Ghahfarokhi F. Prenatal Diagnosis and Frequency Determination of alpha and beta ... beta thalassemia, or other hemoglobinapathies underwent PND and detection of causative mutational genes by chorionic villus ...
Dive into the research topics of A search for anomalies in the ζalpha;beta; and γ globin gene arrangements in normal black, ... T1 - A search for anomalies in the ζalpha;beta; and γ globin gene arrangements in normal black, italian, turkish, and Spanish ... A search for anomalies in the ζalpha;beta; and γ globin gene arrangements in normal black, italian, turkish, and Spanish ... A search for anomalies in the ζalpha;beta; and γ globin gene arrangements in normal black, italian, turkish, and Spanish ...
J:6364 Jahn CL, et al., DNA sequence organization of the beta-globin complex in the BALB/c mouse. Cell. 1980 Aug;21(1):159-68 ...
The first post addressed a paper by Jeffrey Tomkins on the β-globin pseudogene [Creationists questioning pseudogenes: the beta- ... The first was on the β-globin pseudogene and the second was on the GULO pseudogene. Both articles claim that these DNA ... Ill deal with the β-globin pseudogene in this post and the GULO pseudogene in a subsequent post. ... globin pseudogene]. This post covers another paper by Tomkins claiming that the GULO pseudogenes in various primate species are ...
The HBB gene provides instructions for making a protein called beta-globin (β-globin). HbS changes flexible red blood cells ... Other forms of SCD include coinheritance of the HbS variant with another β-globin gene variant, including hemoglobin C (HbSC), ...
Alpha_Globin chr11:5076527-6078118 chr11:4733457-5735048 chr11:4738729-5740320 ENm009 Beta_Globin ...
Hemoglobin SB+ (beta) thalassemia. Hemoglobin SB+ (beta) thalassemia affects beta globin gene production. The size of the red ... Sickle beta-zero thalassemia is the fourth type of sickle cell disease. It also involves the beta globin gene. It has similar ... It normally has two alpha chains and two beta chains. The four main types of sickle cell anemia are caused by different ... If inherited with the Hb S gene, you will have hemoglobin S beta thalassemia. Symptoms are not as severe. ...
CTCF mediates long-range chromatin looping and local histone modification in the beta-globin locus. Genes Dev. 20, 2349-2354 ( ... Looping and interaction between hypersensitive sites in the active β-globin locus. Mol. Cell 10, 1453-1465 (2002). ...
4. Beta globin gene haplotypes in Bahraini sickle-cell disease patients. Molecular genetic studies were undertaken to determine ... Fetal haemoglobin level and BS globin haplotypes in Indian population with sickle cell disease. Blood, 1987, 69(6):1742-6. ... Haplotypes were investigated by PCR amplification of globin target sequences followed by restriction digestion using Hind III, ...
This particular record shows the beta globin locus on chromosome 11. Two panels are shown by default: an overview panel showing ...
Recombinant Mouse Hemoglobin subunit beta-2 (Hbb-b2) from Cusabio. Cat Number: CSB-YP360812MO. USA, UK & Europe Distribution. ... Reference: Nucleotide sequence of the BALB/c mouse beta-globin complex.Shehee W.R., Loeb D.D., Adey N.B., Burton F.H., Casavant ... Alternative Name(s): Beta-2-globinHemoglobin beta-2 chainHemoglobin beta-minor chain ... Recombinant Mouse Hemoglobin subunit beta-2 (Hbb-b2) , CSB-YP360812MO. (No reviews yet) Write a Review Write a Review. ...
An embryonic-specific repressor element located 3 to the Agamma-globin gene influences transcription of the human beta-globin ... Locus control region mediated regulation of adult beta-globin gene expression. Liang, S., Moghimi, B., Yang, T. P., Strouboulis ... The Coup-TFII orphan nuclear receptor is an activator of the γ-globin gene. Fugazza, C., Barbarani, G., Elangovan, S., Marini, ... Persistent gamma-globin expression in adult transgenic mice is mediated by HPFH-2, HPFH-3, and HPFH-6 breakpoint sequences. ...
... that make alpha globin and beta globin from their parents. Alpha globins and beta globins join together to make the hemoglobin ... Hemoglobin is made of two alpha globins and two beta globins. In alpha thalassemia, the body makes less alpha globin than beta ... The decrease in alpha globin causes an imbalance in the amount of alpha and beta globin. This imbalance causes anemia and the ... The imbalance in alpha and beta globin causes anemia and leads to the other medical problems from alpha thalassemia. ...
The Formation and Function of Chromatin Domains at the Murine Beta Globin Locus. ... Beta-catenin signaling integrates with BMP2 and CCN1 signaling to regulate chondrocyte differentiation and cartilage ... Hyperacetylated Domain Formation and cis-acting Regulatory DNA Sequences within the Murine β-globin Locus ... to Study the Roles of ERE-containing Genes in Cell Proliferation and the Functional Differences Between ER Alpha and ER Beta. ...
... thalassemia syndromes are a group of hereditary disorders characterized by a genetic deficiency in the synthesis of beta-globin ... In the homozygous state, beta thalassemia (ie, thalassemia major) causes severe, transfusion-dependent anemia. ... The autologous, one-time IV infusion adds functional copies of a modified beta-globin gene into the patients HSCs through ... encoded search term (Beta Thalassemia) and Beta Thalassemia What to Read Next on Medscape ...
  • The CoTC core is highly conserved in the 3' UTR of other primate beta-globin genes. (wikipedia.org)
  • The assay is specific for the individual human globin genes and will detect the presence of a globin gene if the relevant chromosome is present in only 10% of the cells of a hybrid population. (eurekamag.com)
  • On the basis of these results, the human beta and gamma globin genes have been assigned to human chromosome 11. (eurekamag.com)
  • Mutations in globin genes cause thalassemias . (medscape.com)
  • Beta thalassemia affects one or both of the beta-globin genes. (medscape.com)
  • In beta thalassemia minor (ie, beta thalassemia trait or heterozygous carrier-type), one of the beta-globin genes is defective, resulting in an approximately 50% decrease in the synthesis of the beta-globin protein. (medscape.com)
  • In beta thalassemia major (ie, homozygous beta thalassemia), the production of the beta-globin chains is severely impaired because both beta-globin genes are mutated. (medscape.com)
  • Did the high-altitude populations of two Andean duck species acquire identical variation in beta-globin genes by chance mutations, or between-species hybridization? (nature.com)
  • In a four-year period (2000-2004), 93 voluntary couples from Khuzestan province (mostly Ahvaz area) who were proved to be carrier for alpha thalassemia, beta thalassemia, or other hemoglobinapathies underwent PND and detection of causative mutational genes by chorionic villus sampling {CVS) plus direct or indirect DNA analysis at first trimester of pregnancy. (ijbc.ir)
  • People inherit the instructions (or genes) that make alpha globin and beta globin from their parents. (childrensmn.org)
  • Every child inherits four genes that make alpha globin: two from each parent. (childrensmn.org)
  • They compared fragments of DNA from individuals' beta-globin genes, which produce a protein in hemoglobin. (asu.edu)
  • The genes coding for alpha and beta globin chains are located on chromosome 16 and chromosome 11, respectively. (medscape.com)
  • Sickle cell anemia is a homozygous-recessive disorder, that is, the individual receives two mutant genes that code for the variant beta globin chain. (medscape.com)
  • Histone deacetylases, or HDACs, are enzymes that are among the many ways gene expression gets turned down, a natural process for some genes, like the gamma-globin gene that makes fetal hemoglobin, as we move from childhood to adulthood. (news-medical.net)
  • Genes are the instructions that control how red blood cells make alpha- and beta-globin proteins. (cdc.gov)
  • All people have two genes for making beta-globin. (cdc.gov)
  • It is thing to know about inherited when a child receives two sickle beta-globin genes-- one from each parent. (cdc.gov)
  • Instead of normal hemoglobin, people with methemoglobinemia, beta-globin type have an abnormal form called methemoglobin, which is unable to efficiently deliver oxygen to the body's tissues. (medlineplus.gov)
  • In methemoglobinemia, beta-globin type, the abnormal hemoglobin gives the blood a brown color. (medlineplus.gov)
  • Beta-globin is one of four components (subunits) that make up hemoglobin. (medlineplus.gov)
  • In adults, hemoglobin normally contains two subunits of beta-globin and two subunits of another protein called alpha-globin. (medlineplus.gov)
  • Antibody: T-3523, Hemoglobin beta (beta-globin). (bma.ch)
  • Hemoglobin beta (beta-globin). (bma.ch)
  • Hemoglobin (Hb) E, a common Hb variant found in Southeast Asia, is associated with a beta thalassemia phenotype, and this variant is included in the beta thalassemia category of diseases. (medscape.com)
  • Hemoglobin SB+ (beta) thalassemia affects beta globin gene production. (healthline.com)
  • If inherited with the Hb S gene, you will have hemoglobin S beta thalassemia. (healthline.com)
  • Alpha globin is a building block of hemoglobin. (childrensmn.org)
  • Hemoglobin is made of two alpha globins and two beta globins. (childrensmn.org)
  • Alpha globins and beta globins join together to make the hemoglobin that is inside of red blood cells. (childrensmn.org)
  • Beta-globin is a component (subunit) of a larger protein called hemoglobin, which is located inside red blood cells. (medlineplus.gov)
  • In adults, hemoglobin consists of four protein subunits: usually two subunits of beta-globin and two subunits of a protein called alpha-globin, which is produced from another gene called HBA . (medlineplus.gov)
  • Problems with the subunits that make up hemoglobin, including low levels of beta-globin, reduce or eliminate the production of this molecule. (medlineplus.gov)
  • Variants in the HBB gene have been found to cause methemoglobinemia, beta-globin type, which is a condition that alters the hemoglobin within red blood cells. (medlineplus.gov)
  • This form is caused by a particular variant in the HBB gene that results in the production of an abnormal version of beta-globin called hemoglobin S or HbS. (medlineplus.gov)
  • In this condition, hemoglobin S replaces both beta-globin subunits in hemoglobin. (medlineplus.gov)
  • The variant that causes hemoglobin S changes a single protein building block (amino acid) in beta-globin. (medlineplus.gov)
  • In these other types of sickle cell disease, just one beta-globin subunit is replaced with hemoglobin S. The other beta-globin subunit is replaced with a different abnormal variant, such as hemoglobin C or hemoglobin E. (medlineplus.gov)
  • In hemoglobin SC (HbSC) disease, the beta-globin subunits are replaced by hemoglobin S and hemoglobin C. Hemoglobin C results when the amino acid lysine replaces the amino acid glutamic acid at position 6 in beta-globin (written Glu6Lys or E6K). (medlineplus.gov)
  • Hb A, the major hemoglobin in adults, is composed of four polypeptide chains, two alpha chains, and two beta chains (alpha 2 beta 2 ) held by noncovalent bonds. (medscape.com)
  • The heme and the globin molecules together form hemoglobin, which can bind up to four oxygen molecules. (medscape.com)
  • Fetal hemoglobin enables a developing baby to capture oxygen from mother's blood while the beta-globin gene produces adult hemoglobin that carries oxygen. (news-medical.net)
  • Beta-thalassemia is a type of inherited blood disorder that causes a reduction of normal hemoglobin and red blood cells in the blood, through mutations in the beta-globin subunit, leading to insufficient delivery of oxygen in the body. (genengnews.com)
  • Hemoglobin is made up of two pairs of globin chains. (msdmanuals.com)
  • Hemoglobin is made from two similar proteins, one called alpha-globin and one called beta-globin, that "stick together. (cdc.gov)
  • If one parent has SCT and the other parent has another abnormal hemoglobin gene (like hemoglobin C trait or beta- thalassemia trait), each of their children has a · 1 in 2 (50%) chance of having SCT. (cdc.gov)
  • Initiation codon mutation of α2-globin Gene (HBA2:c.1delA), donor splice site mutation of α1-globin gene (IVSI-1, HBA1:c.95 + 1G>A), hemoglobin Queens Park/Chao Pra Ya (HBA1:c.98T>A) and hemoglobin Westmead (HBA2:c.369C>G). (bvsalud.org)
  • a novel frameshift beta globin gene mutation, resulting in Hemoglobin E/ß 0 thalassemia. (bvsalud.org)
  • Hemoglobin is a tetramer with two pairs of globin chains, each containing an identical heme group. (medscape.com)
  • Normal adult hemoglobin (HbA) has two α- and two β-globin chains (α 2 β 2 ). (medscape.com)
  • Fetal hemoglobin (HbF) has two α- and two γ-globin chains (α 2 γ 2 ). (medscape.com)
  • Minor adult hemoglobin (HbA 2 ) is made of two α- and two δ-globin chains (α 2 δ 2 ). (medscape.com)
  • two lines positive for human beta globin gene sequences also contained human gamma globin gene sequences while one line was negative for both beta and gamma gene sequences. (eurekamag.com)
  • Methemoglobinemia, beta-globin type is caused by mutations in the HBB gene. (medlineplus.gov)
  • HBB gene mutations that cause methemoglobinemia, beta-globin type change the structure of beta-globin and promote the heme iron to change from ferrous to ferric. (medlineplus.gov)
  • These mutations, by causing impaired synthesis of the beta-globin protein component of Hb, result in anemia. (medscape.com)
  • Thus was I observing identical changes in beta-globin and the HIF pathway in Speckled Teal and Yellow-billed Pintail due to chance mutations (i.e., convergent evolution) or something else? (nature.com)
  • Like most beta-thalassemia mutations, it normally exhibits recessive inheritance. (ox.ac.uk)
  • Hundreds of variants (also known as mutations) in the HBB gene have been found to cause beta thalassemia. (medlineplus.gov)
  • Scott confidently asserts that because of mutations the beta-globin pseudogene "isn't going to do diddly. (uncommondescent.com)
  • Methemoglobinemia, beta-globin type is a condition that affects the function of red blood cells. (medlineplus.gov)
  • The signs and symptoms of methemoglobinemia, beta-globin type are generally limited to cyanosis, which does not cause any health problems. (medlineplus.gov)
  • The incidence of methemoglobinemia, beta-globin type is unknown. (medlineplus.gov)
  • In methemoglobinemia, beta-globin type, variants in the HBB gene alter the beta-globin protein and promote the heme iron to change from ferrous to ferric. (medlineplus.gov)
  • Among these latter chromosomes, only chromosome 11 was present in the six hybrid clones that contained the human beta globin gene. (eurekamag.com)
  • In fact, chromosome 11 was the only human chromosome that was present in all of the six hybrid clones found to be positive for the human beta globin gene. (eurekamag.com)
  • Which Chromosome Carries Beta Globin Gene? (conceptera.in)
  • This particular record shows the beta globin locus on chromosome 11. (nih.gov)
  • Titled, "Evolutionary Constraints in the β-Globin Cluster: The Signature of Purifying Selection at the δ-Globin (HBD) Locus and Its Role in Developmental Gene Regulation," the paper reported the beta-globin pseudogene is functional. (uncommondescent.com)
  • Región reguladora que fue identificada por primera vez en el locus de la globina beta humana pero que se halló posteriormente en otros loci. (bvsalud.org)
  • A regulatory region first identified in the human beta-globin locus but subsequently found in other loci. (bvsalud.org)
  • This gene provides instructions for making a protein called beta-globin. (medlineplus.gov)
  • The defect can be a complete absence of the beta-globin protein (ie, beta-zero thalassemia) or a severely reduced synthesis of the beta-globin protein (ie, beta-plus thalassemia). (medscape.com)
  • The size of the red blood cell is reduced because less beta protein is made. (healthline.com)
  • Beta thalassemia syndromes are a group of hereditary disorders characterized by a genetic deficiency in the synthesis of beta-globin chains. (medscape.com)
  • The excess unpaired alpha-globin chains aggregate to form precipitates that damage red cell membranes, resulting in intravascular hemolysis. (medscape.com)
  • It normally has two alpha chains and two beta chains. (healthline.com)
  • Normally, adults have one pair of alpha chains and one pair of beta chains. (msdmanuals.com)
  • Thalassemias are characterized by decreased production of globin (alpha and beta) chains. (medscape.com)
  • These results imply that the more severe phenotype may be due to a second defect, possibly unlinked to the beta-globin cluster, that acts at the translational or posttranslational level. (ox.ac.uk)
  • The scientists directed the CRISPR/Cas9 editing system to the human beta-globin gene HBB, part of the beta-globin gene cluster and the gene that is mutated in beta-thalassemia, a blood disease that can be fatal, depending on the specific mutation. (genomeweb.com)
  • Although the reticulocyte alpha:beta mRNA ratios in the two probands were within the range observed in the asymptomatic heterozygotes, globin chain biosynthesis studies showed that the probands had considerably greater alpha:beta chain imbalance. (ox.ac.uk)
  • The imbalance in alpha and beta globin causes anemia and leads to the other medical problems from alpha thalassemia. (childrensmn.org)
  • The decrease in alpha globin causes an imbalance in the amount of alpha and beta globin. (childrensmn.org)
  • Peripheral smear in beta-zero thalassemia minor showing microcytes (M), target cells (T), and poikilocytes.The genetic defect usually is a missense or nonsense mutation in the beta-globin gene, although occasional defects due to gene deletions of the beta-globin gene and surrounding regions also have been reported. (medscape.com)
  • Alpha thalassemia is caused by a mutation (or change) in the gene (or instructions) that controls how much alpha globin to make. (childrensmn.org)
  • In alpha thalassemia, the body makes less alpha globin than beta globin because of the gene mutation. (childrensmn.org)
  • Someone with alpha thalassemia has a change (or mutation) in the alpha globin gene that causes less alpha globin to be made than typical. (childrensmn.org)
  • The therapy treats the severe form of a disease called beta thalassemia, where a genetic mutation in the beta-globin gene impairs the ability of blood cells to carry oxygen throughout the body. (bostonglobe.com)
  • Sickle cell anemia is a common disorder caused by a single mutation of the beta-globin gene but the individual severity of clinical outcome is highly variable. (texaschildrens.org)
  • She will also be experimenting with homology directed recombination of JMML intron enhancer mutation into human erythroid progenitor HuDEP-2 cells to test the effect on erythroid differentiation and globin gene expression. (thalassemia.org)
  • Sickle cell anemia is caused by a point mutation on the DNA of the beta-globin chain. (medscape.com)
  • Specifically, the amino acid glutamic acid is replaced with the amino acid valine at position 6 in beta-globin, written as Glu6Val or E6V. (medlineplus.gov)
  • In sickle cell anemia, the amino acid substitution valine for glutamate occurs on the beta chain at the sixth position. (medscape.com)
  • As the first ex vivo lentiviral vector gene therapy approved in the U.S. for the treatment of people with beta-thalassemia, we are ushering in a new era in which gene therapy has the potential to transform existing treatment paradigms for diseases that currently carry a lifelong burden of care. (genengnews.com)
  • In the homozygous state, beta thalassemia (ie, thalassemia major) causes severe, transfusion-dependent anemia . (medscape.com)
  • beta) results in ineffective erythropoiesis and severe microcytic hypochromic anemia. (medscape.com)
  • Unusually severe heterozygous beta-thalassemia: evidence for an interacting gene affecting globin translation. (ox.ac.uk)
  • However, sometimes the symptoms of beta zero thalassemia are more severe. (healthline.com)
  • Transfusion-dependent beta-thalassemia, the most severe form of the condition, generally requires life-long red blood cell transfusions as the standard course of treatment. (genengnews.com)
  • Patients with thalassemia major (homozygous for beta thalassemia) develop severe anemia that requires transfusion in the first year of life. (medscape.com)
  • The first post addressed a paper by Jeffrey Tomkins on the β-globin pseudogene [ Creationists questioning pseudogenes: the beta-globin pseudogene ]. (blogspot.com)
  • The first was on the β-globin pseudogene and the second was on the GULO pseudogene. (blogspot.com)
  • I'll deal with the β-globin pseudogene in this post and the GULO pseudogene in a subsequent post. (blogspot.com)
  • She then proceeds to cite the beta-globin pseudogene - the example used by leading theistic evolutionist biologist Kenneth Miller in the Kitzmiller v. Dover trial. (uncommondescent.com)
  • Her slide, which she borrowed (with permission, she notes) from Ken Miller's slide deck at the 2005 Kitzmiller v. Dover trial, calls the beta-globin pseudogene "non-functional. (uncommondescent.com)
  • HBB gene variants that decrease beta-globin production result in a condition called beta-plus (β + ) thalassemia. (medlineplus.gov)
  • Variants that prevent cells from producing any beta-globin result in beta-zero (β 0 ) thalassemia. (medlineplus.gov)
  • Variants in the HBB gene can also cause other abnormalities in beta-globin, leading to other types of sickle cell disease. (medlineplus.gov)
  • Clinical presentation and molecular identification of four uncommon alpha globin variants in Thailand. (bvsalud.org)
  • Each dose of Zynteglo is a customized treatment created using the patient's own bone marrow stem cells that are genetically modified to produce functional beta-globin. (genengnews.com)
  • Sickle cell disease (SCD) is a genetic blood problem portrayed by strange, inflexible, sickle-formed red platelets caused because of transformations in the beta-globin quality. (medgadget.com)
  • Beta thalassaemia syndromes are the other tissues such as cardiac or renal aly, clinical heart failure, and chelation most common inherited haemoglobi- tissue have different mechanisms and therapy with a method other than using nopathies caused by a genetic deficiency kinetics of iron uptake, storage and desferrioxamine. (who.int)
  • A lack of oxygen in the body's tissues can lead to poor growth, organ damage, and other health problems associated with beta thalassemia. (medlineplus.gov)
  • These abnormal forms of beta-globin are often designated by letters of the alphabet or sometimes by a name. (medlineplus.gov)
  • Therefore, a child can only have SCD having SCT is that when both of his/her parents have at least one abnormal you could have a beta-globin gene. (cdc.gov)
  • Before Zynteglo's approval, stem cell transplants were the only potentially curative options for people with beta thalassemia, but many people with the condition are unable to find a genetically-matched donor. (bostonglobe.com)
  • The FDA approval of Zynteglo offers people with beta-thalassemia the possibility of freedom from burdensome regular red blood cell transfusions and iron chelation, and unlocks new possibilities in their daily lives," said Andrew Obenshain, CEO of Bluebird Bio. (genengnews.com)
  • The CoTC process in the human beta-globin gene was proposed to involve an RNA self-cleaving activity located in the 3' flanking region of the beta-globin gene. (wikipedia.org)
  • We have successfully used a DNA.cDNA molecular hybridization assay to directly determine the presence or absence of human beta globin gene sequences in 20 human-mouse somatic cell hybrids, each of which contained a different subset of human chromosomes. (eurekamag.com)
  • All human chromosomes were present in one or more cell lines devoid of the human beta globin gene except for 6, 8, 9, 11, and 13. (eurekamag.com)
  • 157-BNPT-4 contained the human beta globin gene while 157-BNPT-1 did not. (eurekamag.com)
  • Polymorphism and molecular pathology of the human beta-globin gene. (johnshopkins.edu)
  • Beta globin is common to all mammalian cells and it is reasonable to expect that some human cells will be present in the sample. (cdc.gov)
  • Scientists from Sun Yat-sen University in Guangzhou, China, led by Canquan Zhou and Junjiu Huang, used the CRISPR/Cas9 genome editing system in non-viable human zygotes to modify the gene that causes the hereditary blood disease beta-thalassemia. (genomeweb.com)
  • Using PNAs, we demonstrated successful editing of the beta-globin gene in human primary hematopoietic stem cells. (yale.edu)
  • In the current study the reaction products of acrylamide and glycidamide with human alpha- and beta-globins or albumin, obtained through in vitro incubation, were studied using Surface Enhanced Laser Desorption Ionization (SELD) with Time of Flight mass spectrometry. (cdc.gov)
  • Katie Carlberg, MD, of the Children's Hospital Oakland, is developing a noninvasive approach to prenatal diagnosis of thalassemia in her study, "SNP Discovery and Characterization of the Human Beta-Globin Gene for Non-Invasive Prenatal Testing for Beta-Hemoglobinopathies. (thalassemia.org)
  • The decrease in alpha globin causes anemia (not enough RBCs in the body) and can lead to other medical problems. (childrensmn.org)
  • Peripheral smear from a patient with beta-zero thalassemia major showing more marked microcytosis (M) and anisopoikilocytosis (P) than in thalassemia minor. (medscape.com)
  • Children who have beta-thalassemia major may grow more slowly and reach puberty later than they normally would. (msdmanuals.com)
  • In the heterozygous state, the beta thalassemia trait (ie, thalassemia minor) causes mild to moderate microcytic anemia. (medscape.com)
  • In alpha-thalassemia minor and beta-thalassemia minor, people have mild anemia with no symptoms. (msdmanuals.com)
  • Peripheral smear in beta-zero thalassemia minor showing microcytes (M), target cells (T), and poikilocytes. (medscape.com)
  • Zynteglo could change that by providing a healthy copy of the essential beta-globin gene to blood stem cells, allowing their bodies to make healthy blood cells and eliminate the need for regular transfusions. (bostonglobe.com)
  • Once there, scientists will treat the cells with Bluebird's gene therapy, made from a lentivirus that shuttles the beta-globin gene into the cells. (bostonglobe.com)
  • The FDA has approved Bluebird Bio's Zynteglo as the first cell-based gene therapy for the treatment of adult and pediatric patients with beta-thalassemia who require regular red blood cell transfusions. (genengnews.com)
  • The safety and effectiveness of Zynteglo were established in two multicenter clinical studies that included adult and pediatric patients with beta-thalassemia requiring regular transfusions. (genengnews.com)
  • Data were obtained in the beta-globin chain synthesis [1]. (who.int)
  • The disease is caused by a problem with a gene called beta globin. (stlukes-stl.com)
  • Sickle beta-zero thalassemia is the fourth type of sickle cell disease. (healthline.com)
  • Samples were tested for the presence of amplifiable DNA and absence of inhibitors by performing beta globin PCR. (cdc.gov)
  • RÉSUMÉ Des méthodes non-invasives de haute précision sont nécessaires pour l'évaluation de la concentration en fer dans les organes des patients atteints de thalassémie. (who.int)
  • L'évaluation systématique de la concentration de fer dans le foie et le coeur à l'aide de l'IRM pondérée en T2* semble produire une meilleure évaluation de la présence d'une hémosidérose chez les patients atteints de thalassémie. (who.int)
  • SCT occurs when a person inherits a gene for sickle beta- globin from one parent and a gene for normal beta-globin from the other parent. (cdc.gov)