AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesTechnology, Industry, AgricultureInformation Science
GlobinsThalassemiabeta-GlobinsReticulocytesLeukemia, Erythroblastic, Acutebeta-Thalassemiaalpha-GlobinsLocus Control RegionHemoglobins, AbnormalHemoglobinopathiesFetal HemoglobinGenesHemoglobin, SickleRNA, MessengerBase SequenceHemoglobin A2Interleukin-1betaNucleic Acid HybridizationHemoglobinsDNA Restriction EnzymesHeminAnemia, Sickle CellMolecular Sequence Databeta 2-MicroglobulinCollodionDNAErythrocytesGene Expression RegulationErythropoiesisTranscription, GeneticErythroid Precursor CellsErythroid-Specific DNA-Binding FactorsProtein BiosynthesisMultigene FamilyReceptors, Adrenergic, betaChromosomes, Artificial, YeastIntegrin beta3DNA, RecombinantHybrid CellsHomozygoteCloning, MolecularSingle-Strand Specific DNA and RNA EndonucleasesDeoxyribonuclease ICell LineChromosome DeletionMice, TransgenicRabbitsRegulatory Sequences, Nucleic AcidCell-Free SystemHeterozygotePromoter Regions, GeneticPrenatal DiagnosisTransforming Growth Factor betaBinding SitesGenes, SwitchPlasmidsAmino Acid SequencePolymerase Chain ReactionChromosome MappingMutationFetusRNAErythroid CellsIntegrin alpha5beta1Integrin beta4ErythroblastsElectrophoresis, Agar GelIntegrin alpha6beta4Cell ExtractsIntegrin beta Chainsbeta 2-Glycoprotein IHemoglobin ATumor Cells, Culturedgamma-GlobinsIntegrin alpha4beta1Clone CellsRestriction MappingIntegrin alpha2beta1Receptors, Adrenergic, beta-2IntronsCells, CulturedChromatography, High Pressure LiquidHeLa CellsLiverRNA SplicingTruncated HemoglobinsKineticsIntegrinsalpha-ThalassemiaInterleukin-1Antigens, CD29Integrin alpha6beta1NF-E2 Transcription Factor, p45 SubunitIn Situ Hybridization, FluorescenceHemePedigreeReceptors, Adrenergic, beta-1NF-E2 Transcription FactorIntegrin alpha1beta1Alleles
Globins
A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.
Thalassemia
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.
beta-Globins
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.
Reticulocytes
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.
Leukemia, Erythroblastic, Acute
A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood.
beta-Thalassemia
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.
alpha-Globins
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.
Locus Control Region
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, Abnormal
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.
Hemoglobinopathies
A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.
Fetal Hemoglobin
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.
Genes
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.
Hemoglobin, Sickle
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, Messenger
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.
Base Sequence
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Hemoglobin A2
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.
Interleukin-1beta
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.
Nucleic Acid Hybridization
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)
Hemoglobins
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.
DNA Restriction Enzymes
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.
Hemin
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.
Anemia, Sickle Cell
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.
Molecular Sequence Data
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.
beta 2-Microglobulin
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.
Collodion
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.
DNA
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).
Erythrocytes
Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.
Gene Expression Regulation
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.
Erythropoiesis
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.
Transcription, Genetic
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
Erythroid Precursor Cells
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.
Erythroid-Specific DNA-Binding Factors
A group of transcription factors that were originally described as being specific to ERYTHROID CELLS.
Protein Biosynthesis
The biosynthesis of PEPTIDES and PROTEINS on RIBOSOMES, directed by MESSENGER RNA, via TRANSFER RNA that is charged with standard proteinogenic AMINO ACIDS.
Multigene Family
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)
Receptors, Adrenergic, beta
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, Artificial, Yeast
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.
Integrin beta3
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.
DNA, Recombinant
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.
Hybrid Cells
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.
Homozygote
An individual in which both alleles at a given locus are identical.
Cloning, Molecular
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.
Single-Strand Specific DNA and RNA Endonucleases
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.
Deoxyribonuclease I
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.
Cell Line
Established cell cultures that have the potential to propagate indefinitely.
Chromosome Deletion
Actual loss of portion of a chromosome.
Mice, Transgenic
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
Rabbits
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.
Regulatory Sequences, Nucleic Acid
Nucleic acid sequences involved in regulating the expression of genes.
Cell-Free System
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)
Heterozygote
An individual having different alleles at one or more loci regarding a specific character.
Promoter Regions, Genetic
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.
Prenatal Diagnosis
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
Transforming Growth Factor beta
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.
Binding Sites
The parts of a macromolecule that directly participate in its specific combination with another molecule.
Genes, Switch
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.
Plasmids
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.
Amino Acid Sequence
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.
Polymerase Chain Reaction
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.
Chromosome Mapping
Any method used for determining the location of and relative distances between genes on a chromosome.
Mutation
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.
Fetus
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.
RNA
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)
Erythroid Cells
The series of cells in the red blood cell lineage at various stages of differentiation.
Integrin alpha5beta1
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.
Integrin beta4
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.
Erythroblasts
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, Agar Gel
Electrophoresis in which agar or agarose gel is used as the diffusion medium.
Integrin alpha6beta4
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.
Cell Extracts
Preparations of cell constituents or subcellular materials, isolates, or substances.
Integrin beta Chains
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.
beta 2-Glycoprotein I
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.
Hemoglobin A
Normal adult human hemoglobin. The globin moiety consists of two alpha and two beta chains.
Tumor Cells, Cultured
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.
gamma-Globins
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
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.
Clone Cells
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)
Restriction Mapping
Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.
Integrin alpha2beta1
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.
Receptors, Adrenergic, beta-2
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.
Introns
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, Cultured
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.
Chromatography, High Pressure Liquid
Liquid chromatographic techniques which feature high inlet pressures, high sensitivity, and high speed.
HeLa Cells
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.
Liver
A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.
RNA Splicing
The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm.
Truncated Hemoglobins
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.
Kinetics
The rate dynamics in chemical or physical systems.
Integrins
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.
alpha-Thalassemia
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.
Interleukin-1
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.
Antigens, CD29
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)
Integrin alpha6beta1
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.
NF-E2 Transcription Factor, p45 Subunit
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.
In Situ Hybridization, Fluorescence
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.
Heme
The color-furnishing portion of hemoglobin. It is found free in tissues and as the prosthetic group in many hemeproteins.
Pedigree
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.
Receptors, Adrenergic, beta-1
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.
NF-E2 Transcription Factor
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
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.
Alleles
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Dimethyl Sulfoxide
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.
Recombinant Proteins
Proteins prepared by recombinant DNA technology.
Polymorphism, Genetic
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.
Macromolecular Substances
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.
Glycogen Synthase Kinase 3
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.
Transfection
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)

beta-Globins - beta Globin Summary Report | CureHunterbeta-Globins - beta Globin Summary Report | CureHunter
beta-Globins: 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.
http://www.curehunter.com/public/keywordSummaryD055544-beta-Globins-beta-Globin.do
Phenotypes for Hbb Tg(HBB-AR-HBA2,-HBB*)58Rub Tg(LCR-HBA2,LCR-HBB)11Cos MGI:4412015 MGI MousePhenotypes for Hbb Tg(HBB-AR-HBA2,-HBB*)58Rub Tg(LCR-HBA2,LCR-HBB)11Cos MGI:4412015 MGI Mouse
View Hbb/Hbb Tg(HBB-AR-HBA2,-HBB*)58Rub/0 Tg(LCR-HBA2,LCR-HBB)11Cos/0 involves: FVB/N * Swiss Webster: phenotypes, images, diseases, and references.
http://www.informatics.jax.org/allele/genoview/MGI:4412015
Oxygen-induced changes in hemoglobin expression in Drosophila. :: MPG.PuReOxygen-induced changes in hemoglobin expression in Drosophila. :: MPG.PuRe
Author: Gleixner, E. et al.; Genre: Journal Article; Published in Print: 2008-09; Open Access; Keywords: globin;hyperoxia; hypoxia; respiration; tracheae|br/|; Title: Oxygen-induced changes in hemoglobin expression in Drosophila.
https://pure.mpg.de/pubman/faces/ViewItemFullPage.jsp?itemId=item_588492
Digestion-ligation-only Hi-C is an efficient and cost-effective method for chromosome conformation capture | Nature GeneticsDigestion-ligation-only Hi-C is an efficient and cost-effective method for chromosome conformation capture | Nature Genetics
Chromosome conformation capture (3C) technologies can be used to investigate 3D genomic structures. However, high background noise, high costs, and a lack of straightforward noise evaluation in current methods impede the advancement of 3D genomic research. Here we developed a simple digestion-ligation-only Hi-C (DLO Hi-C) technology to explore the 3D landscape of the genome. This method requires only two rounds of digestion and ligation, without the need for biotin labeling and pulldown. Non-ligated DNA was efficiently removed in a cost-effective step by purifying specific linker-ligated DNA fragments. Notably, random ligation could be quickly evaluated in an early quality-control step before sequencing. Moreover, an in situ version of DLO Hi-C using a four-cutter restriction enzyme has been developed. We applied DLO Hi-C to delineate the genomic architecture of THP-1 and K562 cells and uncovered chromosomal translocations. This technology may facilitate investigation of genomic organization, gene
https://www.nature.com/articles/s41588-018-0111-2?error=cookies_not_supported&code=1973d119-fede-4342-b6f6-dd261d5ab9f0
Circular Chromosome Conformation Capture (4C) Uncovers Extensive Networks of Epigenetically Regulated Intra- And...Circular Chromosome Conformation Capture (4C) Uncovers Extensive Networks of Epigenetically Regulated Intra- And...
Accumulating evidence converges on the possibility that chromosomes interact with each other to regulate transcription in trans. To systematically explore the epigenetic dimension of such interactions, we devised a strategy termed circular chromosome conformation capture (4C). This approach involves …
https://pubmed.ncbi.nlm.nih.gov/17033624/
Position-independent, high-level expression of the human beta-globin gene in transgenic micePosition-independent, high-level expression of the human beta-globin gene in transgenic mice
We have constructed a minilocus that contains the 5 and 3 flanking regions of the human beta-globin locus and the beta-globin gene. These regions are characterized by erythroid-specific DNAase I-superhypersensitive sites and are normally located approximately 50 kb 5 and 20 kb 3 of the beta-gl …
https://pubmed.ncbi.nlm.nih.gov/3690667/?dopt=Abstract
Human Beta-globin Control Primer SetHuman Beta-globin Control Primer Set
Takaras Human Beta-globin Control Primer Set contains a set of PCR primers that recognizes the human beta-globin gene at chromosome 11. Beta-globin makes up about half of the human hemoglobin tertrameric protein; in the normal human adult, the hemoglobin tetramer consists of two alpha chains and two beta chains. The Human Beta-globin Control Primer Set may be used as a experimental control during protocols such as PCR ...
http://www.clontech.com/US/Products/PCR/Pathogen_Detection_and_Screening_Kits/Human_Pathogen_Detection/Human_Beta-globin_Control_Primer_Set
ENC Chromatin Super-track SettingsENC Chromatin Super-track Settings
Dekker J, Rippe K, Dekker M, Kleckner N. Capturing chromosome conformation. Science. 2002 Feb 15;295(5558):1306-11. Dostie J, Richmond TA, Arnaout RA, Selzer RR, Lee WL, Honan TA, Rubio ED, Krumm A, Lamb J, Nusbaum C et al. Chromosome Conformation Capture Carbon Copy (5C): a massively parallel solution for mapping interactions between genomic elements. Genome Res. 2006 Oct;16(10):1299-309. Fullwood MJ, Han Y, Wei CL, Ruan X, Ruan Y. Chromatin interaction analysis using paired-end tag sequencing. Curr Protoc Mol Biol. 2010 Jan;Chapter 21:Unit 21.15.1-25. Li G, Fullwood MJ, Xu H, Mulawadi FH, Velkov S, Vega V, Ariyaratne PN, Mohamed YB, Ooi HS, Tennakoon C et al. ChIA-PET tool for comprehensive chromatin interaction analysis with paired-end tag sequencing. Genome Biol. 2010;11(2):R22. ...
http://rohsdb.cmb.usc.edu/GBshape/cgi-bin/hgTrackUi?hgsid=1289098_rEYyzmWZ9Xw4hhMOGbGzlYRwArae&c=chrUn_gl000240&g=wgEncodeChromSuper
RePub, Erasmus University Repository: Papillary meningioma with pleural metastasis: Case report and literature reviewRePub, Erasmus University Repository: Papillary meningioma with pleural metastasis: Case report and literature review
Papillary meningiomas are rare meningeal tumors which are associated with a grim prognosis. These tumors usually recur locally and in some cases they metastasize. The clinical, radiological and histopathological features of a case of a papillary meningioma with a pleural metastasis in a 13-year-old boy are presented. The literature on metastasizing papillary meningiomas is reviewed. Up to now, 131 cases of papillary meningioma have been reported in the literature. Only 8 cases gave rise to metastases outside the central nervous system. The preferential site of metastasis appeared to be the lung. This is the first report of a papillary meningioma giving rise to a metastasis in the pleura.. ...
https://repub.eur.nl/pub/62004
Modulation of mouse hemoglobin expression by hydroxyurea and erythropoietin in vivo.<...
TY - JOUR. T1 - Modulation of mouse hemoglobin expression by hydroxyurea and erythropoietin in vivo.. AU - Alter, B. P.. AU - Wagner, C. K.. AU - Susser, L. S.. AU - Weinberg, R. S.. PY - 1989. Y1 - 1989. UR - http://www.scopus.com/inward/record.url?scp=0024795799&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0024795799&partnerID=8YFLogxK. M3 - Article. C2 - 2616578. AN - SCOPUS:0024795799. VL - 316 B. SP - 317. EP - 325. JO - Progress in Clinical and Biological Research. JF - Progress in Clinical and Biological Research. SN - 0361-7742. ER - ...
https://jhu.pure.elsevier.com/en/publications/modulation-of-mouse-hemoglobin-expression-by-hydroxyurea-and-eryt-3
chromosome conformation capture Archives - PacBiochromosome conformation capture Archives - PacBio
By downloading, copying, or making any use of the images located on this website (Site) you acknowledge that you have read and understand, and agree to, the terms of this Image Usage Agreement, as well as the terms provided on the Legal Notices webpage, which together govern your use of the images as provided below. If you do not agree to such terms, do not download, copy or use the images in any way, unless you have written permission signed by an authorized Pacific Biosciences representative.. Subject to the terms of this Agreement and the terms provided on the Legal Notices webpage (to the extent they do not conflict with the terms of this Agreement), you may use the images on the Site solely for (a) editorial use by press and/or industry analysts, (b) in connection with a normal, peer-reviewed, scientific publication, book or presentation, or the like. You may not alter or modify any image, in whole or in part, for any reason. You may not use any image in a manner that misrepresents the ...
https://www.pacb.com/auto_tags/chromosome-conformation-capture/
The beta-globin locus | HSTalksThe beta-globin locus | HSTalks
Click to launch & play an online audio visual presentation by Dr. Ann Dean on The beta-globin locus, part of a collection of online lectures.
https://hstalks.com/t/673/the-beta-globin-locus/?biosci
Reliable determination of chromatin foldingReliable determination of chromatin folding
Our chromosome conformation capture kit simplifies chromatin folding studies enabling determination of DNA contact frequencies and chromosome conformation
https://www.qiagen.com/cu/product-categories/discovery-and-translational-research/epigenetics/chromosome-conformation/
Permalien vers Two independent modes of chromatin organization revealed by cohesin removalPermalien vers Two independent modes of chromatin organization revealed by cohesin removal
Imaging and chromosome conformation capture studies have revealed several layers of chromosome organization, including segregation into megabase-sized active
https://research.pasteur.fr/fr/publication/two-independent-modes-of-chromatin-organization-revealed-by-cohesin-removal/
Thalassemia - Find link
human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia. Proc. Natl. Acad. Sci. U.S.A. 86 (3): 1041-5. doi:10.1073/pnas. ...
http://edwardbetts.com/find_link/Thalassemia
HBB - Happy Birthday Brother | AcronymFinderHBB - Happy Birthday Brother | AcronymFinder
How is Happy Birthday Brother abbreviated? HBB stands for Happy Birthday Brother. HBB is defined as Happy Birthday Brother very frequently.
https://www.acronymfinder.com/Happy-Birthday-Brother-
Proximity among distant regulatory elements at the beta-globin locus r by Christopher R. Vakoc, Danielle L. Letting et al.Proximity among distant regulatory elements at the beta-globin locus r by Christopher R. Vakoc, Danielle L. Letting et al.
Recent evidence suggests that long-range enhancers and gene promoters are in close proximity, which might reflect the formation of chromatin loops. Here, we examined the mechanism for DNA looping at the beta-globin locus. By using chromosome conformation capture (3C), we show that the hematopoietic transcription factor GATA-1 and its cofactor FOG-1 are required for the physical interaction between the beta-globin locus control region (LCR) and the beta-major globin promoter. Kinetic studies reveal that GATA-1-induced loop formation correlates with the onset of beta-globin transcription and occurs independently of new protein synthesis. GATA-1 occupies the beta-major globin promoter normally in fetal liver erythroblasts from mice lacking the LCR, suggesting that GATA-1 binding to the promoter and LCR are independent events that occur prior to loop formation. Together, these data demonstrate that GATA-1 and FOG-1 are essential anchors for a tissue-specific chromatin loop, providing general insights into
http://escholarship.umassmed.edu/pgfe_pp/132/
Activation of the beta-globin promoter by the locus control region correlates with binding of a novel factor to the CAAT box in...Activation of the beta-globin promoter by the locus control region correlates with binding of a novel factor to the CAAT box in...
Four distinct factors in extracts from murine erythroleukemia (MEL) cells interacted with the human beta-globin gene promoter CAAT box: CP1, GATA-1, and two novel factors, denoted a and b, one of which is highly inducible in the MEL system. GATA-1 binding to the CAAT element was very unstable (half-life | 1 min), whereas bindings of a, b, and CP1 were comparatively stable, with half-lives of 18, 19, and 3.5 min, respectively. Stable transfections of MEL cells showed that in the presence of the beta-globin locus control region (LCR), the wild-type CAAT box, a mutant which bound to GATA-1 with increased stability over the normal sequences, and a mutant which bound a, b, and CP1 specifically could all stimulate transcription greater than ninefold over that induced by a null CAAT mutation in both uninduced and terminally differentiated MEL cells. A mutant which bound the a and b factors specifically gave only a twofold stimulation of promoter activity, and this lower activity correlated with a decrease in
https://www.semanticscholar.org/paper/Activation-of-the-beta-globin-promoter-by-the-locu-Delvoye-Destroismaisons/bcc67d57236afd83bb25b0f6fdd7ed1f00b5ac11
Publications | Carlson College of Veterinary Medicine | Oregon State University
S. Svasti, Suwanmanee, T., Fucharoen, S., Moulton, H. M., Nelson, M. H., Maeda, N., Smithies, O., and Kole, R., RNA repair restores hemoglobin expression in IVS2-654 thalassemic mice., Proceedings of the National Academy of Sciences of the United States of America, vol. 106, no. 4, pp. 1205-10, 2009. ...
https://vetmed.oregonstate.edu/research/publications?s=title&%3Bf%5Bag%5D=Y&o=desc&f%5Bauthor%5D=1535
Structure Cluster - 1DXV: HIGH-RESOLUTION X-RAY STUDY OF DEOXY RECOMBINANT HUMAN HEMOGLOBINS SYNTHESIZED FROM BETA...Structure Cluster - 1DXV: HIGH-RESOLUTION X-RAY STUDY OF DEOXY RECOMBINANT HUMAN HEMOGLOBINS SYNTHESIZED FROM BETA...
1DXV: High-resolution X-ray study of deoxy recombinant human hemoglobins synthesized from beta-globins having mutated amino termini.
http://www.rcsb.org/pdb/explore/structureCluster.do?structureId=1DXV
The dominant control region of the human beta-globin domain. - Immunology
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https://www.immunology.ox.ac.uk/publications/894898
坂本 尚昭(大学院理学研究科)
2006年04月, DNA Structure, Chromatin and Gene Expression, Chapter 14, Involvement of nuclear matrix and chromatin loop formation in the function of insulators., Transworld Research Network, 2006年, 04, 単行本（学術書）, 共編著, Akasaka K. , ...
http://seeds.office.hiroshima-u.ac.jp/profile/ja.8d0526abedb7c3c7520e17560c007669.html
Corepressor-dependent silencing of fetal hemoglobin expression by BCL1 by Jian Xu, Daniel E Bauer et al.Corepressor-dependent silencing of fetal hemoglobin expression by BCL1 by Jian Xu, Daniel E Bauer et al.
Reactivation of fetal hemoglobin (HbF) in adults ameliorates the severity of the common β-globin disorders. The transcription factor BCL11A is a critical modulator of hemoglobin switching and HbF silencing, yet the molecular mechanism through which BCL11A coordinates the developmental switch is incompletely understood. Particularly, the identities of BCL11A cooperating protein complexes and their roles in HbF expression and erythroid development remain largely unknown. Here we determine the interacting partner proteins of BCL11A in erythroid cells by a proteomic screen. BCL11A is found within multiprotein complexes consisting of erythroid transcription factors, transcriptional corepressors, and chromatin-modifying enzymes. We show that the lysine-specific demethylase 1 and repressor element-1 silencing transcription factor corepressor 1 (LSD1/CoREST) histone demethylase complex interacts with BCL11A and is required for full developmental silencing of mouse embryonic β-like globin genes and human γ
https://mouseion.jax.org/stfb2013/104/
LoopRig Tutorial: Enhancer-Promoter InteractionsLoopRig Tutorial: Enhancer-Promoter Interactions
High-throughput interaction data from novel chromosome interaction assays has become a staple in genomics research. Methods such as high-throughput chromosome conformation capture (Hi-C) and chromatin interaction analysis by paired-end tag sequencing (ChIA-PET) provide researchers with a way of quantifying three-dimensional chromatin architecture, while also gaining insights into which regions in the genome are interacting frequently. A common downstream data-type from these experimental methods is chromatin loop data. Loops are inferred by marking regions in the genome with high frequency of interaction compared to a background. Typically, we are interested in loops because they provide an insulated environment for interaction of genomic regions, as well as a direct mode of contact for regions near the loop anchors. A classic canonical chromatin loop interaction is one that involves enhancer-promoter interactions in the regulation of gene expression. Therefore, a very common workflow involving ...
https://cran.r-project.org/web/packages/LoopRig/vignettes/LoopRig-Tutorial.html
Development and Disease Group (Stefan Mundlos) | Max Planck Institute for Molecular Genetics
Chromosomes are folded in the nuclues according to a specific code. This 3D structure of the chromatin directly affects the regulation of genes by facilitating and restricting the contacts regulatory elements can make. Chromosome conformations capture (3C) technologies (4C and HiC) are used by us to measure and visualize chromatin folding and how it is altered by mutations. We study the mechanisms and rules of chromatin folding in vivo in cells/tissues from mouse embryos. This allows us to be a close as possible to the developmental processes and the diseases that are of interest to us. Mutations are produced by genome editing with CRISPR/Cas9 in mouse embryonic stem (ES) cells and mice are then generated by ES cell aggregation. We use the developing limb as a model system to study how gene regulation changes and directs morphogenesis. The limb has many advantages for this sort of study as it is accessible and the developmental steps and the major genes/molecular mechanisms are known. This ...
https://www.molgen.mpg.de/Development-and-Disease
3D-GNOME: an integrated web service for structural modeling of the 3D by Przemyslaw Szalaj, Paul J Michalski et al.3D-GNOME: an integrated web service for structural modeling of the 3D by Przemyslaw Szalaj, Paul J Michalski et al.
Recent advances in high-throughput chromosome conformation capture (3C) technology, such as Hi-C and ChIA-PET, have demonstrated the importance of 3D genome organization in development, cell differentiation and transcriptional regulation. There is now a widespread need for computational tools to generate and analyze 3D structural models from 3C data. Here we introduce our 3D GeNOme Modeling Engine (3D-GNOME), a web service which generates 3D structures from 3C data and provides tools to visually inspect and annotate the resulting structures, in addition to a variety of statistical plots and heatmaps which characterize the selected genomic region. Users submit a bedpe (paired-end BED format) file containing the locations and strengths of long range contact points, and 3D-GNOME simulates the structure and provides a convenient user interface for further analysis. Alternatively, a user may generate structures using published ChIA-PET data for the GM12878 cell line by simply specifying a genomic region of
https://mouseion.jax.org/stfb2017/128/
Characterizing meiotic chromosomes structure and pairing using a designer sequence optimized for Hi-C • Research - Institut...Characterizing meiotic chromosomes structure and pairing using a designer sequence optimized for Hi-C • Research - Institut...
In chromosome conformation capture experiments (Hi-C), the accuracy with which contacts are detected varies due to the uneven distribution of restriction
https://research.pasteur.fr/en/publication/characterizing-meiotic-chromosomes-structure-and-pairing-using-a-designer-sequence-optimized-for-hi-c/
Publication SupplementPublication Supplement
The human HBB complex sequence is a compilation of sequences. Most of the sequences flanking the beta-like globin genes and LCR were determined by Mike Bulger in the Groudine lab, and he generated this compilation. A minimal tiling path of GenBank sequences that in combination will make something close to this compilation (after removing overlaps) is accession numbers AF137396, AF064190, U01317, AF137131, X54282, AF289203 and AF289204. THERE IS A ROUGHLY 6 KB GAP IN THE HUMAN SEQUENCE at position 344746. The gene HOR3beta3 and the 3 breakpoint for the Chinese thalassemia deletion precede this gap, and the 3 breakpoint for HPFH1 and the gene HOR3beta4 follow this gap. This gap was resistant to cloning and sequencing in multiple attempts. The Celera contig also ends in roughly this region. ...
http://globin.cse.psu.edu/globin/html/papers/olfactory/
A novel beta-globin mutation, beta Durham-NC [beta 114 Leu--|Pro], produces a dominant thalassemia-like phenotype | Blood |...A novel beta-globin mutation, beta Durham-NC [beta 114 Leu--|Pro], produces a dominant thalassemia-like phenotype | Blood |...
Abstract. Mutations within exon 3 of the beta-globin gene are relatively uncommon, and many of these mutations produce a dominant thalassemia- like phenotype.
https://ashpublications.org/blood/article/83/4/1109/171111/A-novel-beta-globin-mutation-beta-Durham-NC-beta
Plasma cell-free DNA in patients needing mechanical ventilation | springermedizin.dePlasma cell-free DNA in patients needing mechanical ventilation | springermedizin.de
Cell-free DNA is detected in blood in many diseases, but also in healthy individuals. Cell-free DNA can originate from necrotic cells or apoptotic …
https://www.springermedizin.de/plasma-cell-free-dna-in-patients-needing-mechanical-ventilation/9706644
Medication for Beta-thalassemia - Doctors insight on HealthcareMagicMedication for Beta-thalassemia - Doctors insight on HealthcareMagic
Question - Medication for Beta-thalassemia. Ask a Doctor about diagnosis, treatment and medication for Thalassemia, Ask a Pediatrician
http://www.healthcaremagic.com/questions/Medication-for-Beta-thalassemia/81386
What is the HBB gene? - Sickle Cell DNAWhat is the HBB gene? - Sickle Cell DNA
The HBB gene encodes the β-globin component of hemoglobin. Mutations in this gene affect the shape and functionality of hemoglobin ...
http://www.sicklecelldnatest.com/avada_faq/what-is-the-hbb-gene/
ζ<sup>-/-</sup>thalassemic mice are affected by two modifying loci and display unanticipated somatic recombination leading to...ζ<sup>-/-</sup>thalassemic mice are affected by two modifying loci and display unanticipated somatic recombination leading to...
TY - JOUR. T1 - ζ-/-thalassemic mice are affected by two modifying loci and display unanticipated somatic recombination leading to inherited variation. AU - Leder, Aya. AU - McMenamin, Jennifer. AU - Fontaine, Karen. AU - Bishop, Alexander. AU - Leder, Philip. PY - 2005/3/1. Y1 - 2005/3/1. N2 - Thalassemia is a disease caused by a variety of mutations affecting both the adult and embryonic α- and β-globin loci. A mouse strain carrying an embryonic ζ-globin gene disrupted by the insertion of a PGK-Neo cassette displays an α-thalassemia-like syndrome. Embryonic survival of this ζ-null mouse is variable and strongly influenced by genetic background, the 129/SvEv mouse strain displaying a more severe phenotype than C57BL/6. We have identified two modifying loci on C57BL/6 chromosomes 2 and 5, which affect the penetrance of embryonic lethality in the 129/SvEv mouse. Through this work, we were able to observe an interesting effect on somatic recombination events in thalassemic embryos. We show ...
https://scholars.uthscsa.edu/en/publications/%CE%B6sup-supthalassemic-mice-are-affected-by-two-modifying-loci-and-d
Animal models of beta-hemoglobinopathies: utility and limitations | JBMAnimal models of beta-hemoglobinopathies: utility and limitations | JBM
Animal models of β-hemoglobinopathies: utility and limitations Bradley McColl, Jim Vadolas Cell and Gene Therapy Laboratory, Murdoch Childrens Research Institute, Royal Childrens Hospital, Parkville, VIC, Australia Abstract: The structural and functional conservation of hemoglobin throughout mammals has made the laboratory mouse an exceptionally useful organism in which to study both the protein and the individual globin genes. Early researchers looked to the globin genes as an excellent model in which to examine gene regulation - bountifully expressed and displaying a remarkably consistent pattern of developmental activation and silencing. In parallel with the growth of research into expression of the globin genes, mutations within the β-globin gene were identified as the cause of the β-hemoglobinopathies such as sickle cell disease and β-thalassemia. These lines of enquiry stimulated the development of transgenic mouse models, first carrying individual human globin genes and then substantial
https://www.dovepress.com/animal-models-of-beta-hemoglobinopathies-utility-and-limitations-peer-reviewed-article-JBM
Interactive Fly, DrosophilaInteractive Fly, Drosophila
To test whether human GATA-1 (hGATA-1) is involved in the transcriptional control of globin gene switching, transgenic mice were produced overexpressing hGATA-1. These were crossed with mice carrying a human beta-globin locus yeast artificial chromosome (beta YAC), and globin gene expression was analyzed in their progeny. Mice carrying both the hGATA-1 and the beta YAC transgenes have normal levels of gamma- and beta-globin mRNA, with no distortion in the rate or in the timing of gamma-to-beta switch, indicating that hGATA-1 is not involved in the developmental control of gamma- and beta-globin genes. In contrast, mice carrying the hGATA-1 and the beta YAC transgenes have 5- to 6-fold lower expression of the human epsilon globin gene compared with beta YAC mice lacking the hGATA-1 transgene. These results provide direct in vivo evidence that hGATA-1 is a specific repressor of human epsilon gene expression. These findings also suggest that binary transgenic mouse systems based on overexpression ...
http://www.sdbonline.org/sites/fly/gene/serpnt2b.htm
Molecular mechanisms of globin gene regulation and disregulat...Molecular mechanisms of globin gene regulation and disregulat...
[Molecular mechanisms of globin gene regulation and disregulation].: Human globin genes are expressed in tissue and developmental stage specific manners. Variou
https://www.mysciencework.com/publication/show/molecular-mechanisms-globin-gene-regulation-disregulation-7ae9b37a
Proteins and Wave Functions: 2016Proteins and Wave Functions: 2016
For a molecule with two titrateable groups ($ \mathrm{HB_\alpha B_\beta H}$) and the following equilibrium constants $$ \mathrm{HBBH \rightleftharpoons BBH + H^+} \ \ K_{\alpha1}$$ $$\mathrm{HBBH \rightleftharpoons HBB + H^+} \ \ K_{\beta1}$$ $$ \mathrm{HBB \rightleftharpoons BB + H^+} \ \ K_{\alpha0}$$ $$\mathrm{BBH \rightleftharpoons BB + H^+} \ \ K_{\beta0}$$ The probability of, for example, $\mathrm{BBH}$ is $$ f_{\mathrm{BBH}} =\mathrm{\frac{[BBH]}{[BB]+[BBH]+[HBB]+[HBBH]}= \frac{[BBH]}{\textit{P}}} $$ $f_{\mathrm{BBH}}$ can be rewritten in terms of pK values $$f_{\mathrm{BBH}} = \mathrm{\frac{[BBH]/[BB]}{\textit{P}/[BB]} = \frac{10^{p\textit{K}_{\beta0}-pH}}{\textit{P}/[BB]}} $$ where $$ \mathrm{ \textit{P}/[BB] = 1+10^{p\textit{K}_{\alpha0}-pH}+10^{p\textit{K}_{\beta0}-pH}+ 10^{p\textit{K}_{\alpha0}+p\textit{K}_{\beta1}-2pH}} $$ Similarly, $$ f_{\mathrm{HBB}} = \mathrm{\frac{10^{p\textit{K}_{\alpha0}-pH}}{\textit{P}/[BB]}} $$ and $$ f_{\mathrm{HBBH}} = ...
http://proteinsandwavefunctions.blogspot.ch/2016/
Proteins and Wave Functions: April 2016Proteins and Wave Functions: April 2016
For a molecule with two titrateable groups ($ \mathrm{HB_\alpha B_\beta H}$) and the following equilibrium constants $$ \mathrm{HBBH \rightleftharpoons BBH + H^+} \ \ K_{\alpha1}$$ $$\mathrm{HBBH \rightleftharpoons HBB + H^+} \ \ K_{\beta1}$$ $$ \mathrm{HBB \rightleftharpoons BB + H^+} \ \ K_{\alpha0}$$ $$\mathrm{BBH \rightleftharpoons BB + H^+} \ \ K_{\beta0}$$ The probability of, for example, $\mathrm{BBH}$ is $$ f_{\mathrm{BBH}} =\mathrm{\frac{[BBH]}{[BB]+[BBH]+[HBB]+[HBBH]}= \frac{[BBH]}{\textit{P}}} $$ $f_{\mathrm{BBH}}$ can be rewritten in terms of pK values $$f_{\mathrm{BBH}} = \mathrm{\frac{[BBH]/[BB]}{\textit{P}/[BB]} = \frac{10^{p\textit{K}_{\beta0}-pH}}{\textit{P}/[BB]}} $$ where $$ \mathrm{ \textit{P}/[BB] = 1+10^{p\textit{K}_{\alpha0}-pH}+10^{p\textit{K}_{\beta0}-pH}+ 10^{p\textit{K}_{\alpha0}+p\textit{K}_{\beta1}-2pH}} $$ Similarly, $$ f_{\mathrm{HBB}} = \mathrm{\frac{10^{p\textit{K}_{\alpha0}-pH}}{\textit{P}/[BB]}} $$ and $$ f_{\mathrm{HBBH}} = ...
http://proteinsandwavefunctions.blogspot.ch/2016/04/
Proteins and Wave Functions: April 2016Proteins and Wave Functions: April 2016
For a molecule with two titrateable groups ($ \mathrm{HB_\alpha B_\beta H}$) and the following equilibrium constants $$ \mathrm{HBBH \rightleftharpoons BBH + H^+} \ \ K_{\alpha1}$$ $$\mathrm{HBBH \rightleftharpoons HBB + H^+} \ \ K_{\beta1}$$ $$ \mathrm{HBB \rightleftharpoons BB + H^+} \ \ K_{\alpha0}$$ $$\mathrm{BBH \rightleftharpoons BB + H^+} \ \ K_{\beta0}$$ The probability of, for example, $\mathrm{BBH}$ is $$ f_{\mathrm{BBH}} =\mathrm{\frac{[BBH]}{[BB]+[BBH]+[HBB]+[HBBH]}= \frac{[BBH]}{\textit{P}}} $$ $f_{\mathrm{BBH}}$ can be rewritten in terms of pK values $$f_{\mathrm{BBH}} = \mathrm{\frac{[BBH]/[BB]}{\textit{P}/[BB]} = \frac{10^{p\textit{K}_{\beta0}-pH}}{\textit{P}/[BB]}} $$ where $$ \mathrm{ \textit{P}/[BB] = 1+10^{p\textit{K}_{\alpha0}-pH}+10^{p\textit{K}_{\beta0}-pH}+ 10^{p\textit{K}_{\alpha0}+p\textit{K}_{\beta1}-2pH}} $$ Similarly, $$ f_{\mathrm{HBB}} = \mathrm{\frac{10^{p\textit{K}_{\alpha0}-pH}}{\textit{P}/[BB]}} $$ and $$ f_{\mathrm{HBBH}} = ...
http://proteinsandwavefunctions.blogspot.it/2016/04/
Activation of a chicken embryonic globin gene in adult erythroid cells by 5-azacytidine and sodium butyrate | PNASActivation of a chicken embryonic globin gene in adult erythroid cells by 5-azacytidine and sodium butyrate | PNAS
Adult White Leghorn chickens were rendered anemic by injection with 1-acetyl-2-phenylhydrazine and then treated with parenteral 5-azacytidine, and levels of embryonic globin RNA in circulating reticulocytes were measured. A very small but detectable amount of correctly initiated embryonic p-type globin RNA was detected in reticulocytes from birds treated with 5-azacytidine, while none was detected in reticulocytes from those receiving only phenylhydrazine or phenylhydrazine plus 1-beta-D-arabinofuranosylcytosine (cytosine arabinonucleoside). An attempt to increase embryonic globin RNA induction by treatment with parenteral sodium butyrate after 7 days of 5-azacytidine administration resulted in a 5- to 10-fold increase in the level of embryonic globin RNA. However, sodium butyrate did not induce embryonic gene expression when given alone or after treatment with cytosine arabinonucleoside. Sodium butyrate treatment also caused a DNase I-hypersensitive site to be exposed at the 5 end of the ...
https://www.pnas.org/content/81/13/3954?ijkey=aea4c08606aec3490f6dcef417c2efc78f0f6805&keytype2=tf_ipsecsha
An evolutionarily ancient mechanism for regulation of hemoglobin expression in vertebrate red cells. - CAMS Oxford Institute
The oxygen transport function of hemoglobin (HB) is thought to have arisen ∼500 million years ago, roughly coinciding with the divergence between jawless (Agnatha) and jawed (Gnathostomata) vertebrates. Intriguingly, extant HBs of jawless and jawed vertebrates were shown to have evolved twice, and independently, from different ancestral globin proteins. This raises the question of whether erythroid-specific expression of HB also evolved twice independently. In all jawed vertebrates studied to date, one of the HB gene clusters is linked to the widely expressed NPRL3 gene. Here we show that the nprl3-linked hb locus of a jawless vertebrate, the river lamprey (Lampetra fluviatilis), shares a range of structural and functional properties with the equivalent jawed vertebrate HB locus. Functional analysis demonstrates that an erythroid-specific enhancer is located in intron 7 of lamprey nprl3, which corresponds to the NPRL3 intron 7 MCS-R1 enhancer of jawed vertebrates. Collectively, our findings signify
https://www.camsoxford.ox.ac.uk/coi-publications/1105337
An evolutionary ancient mechanism for regulation of hemoglobin expression in vertebrate red cells. | OnMedicaAn evolutionary ancient mechanism for regulation of hemoglobin expression in vertebrate red cells. | OnMedica
The oxygen-transport function of hemoglobin (HB) is thought to have arisen ~500 million years ago, roughly coinciding with the divergence between jawless (Agnatha) and jawed (Gnathostomata) vertebrates. Intriguingly, extant HBs of jawless and jawed vertebrates were shown to have evolved twice, and independently, from different ancestral globin proteins. This raises the question whether erythroid-specific expression of HB also evolved twice independently. In all jawed vertebrates studied to date, one of the Hb gene clusters is linked to the widely expressed Nprl3 gene. Here we show that the nprl3-linked hb locus of a jawless vertebrate, the river lamprey (Lampetra fluviatilis), shares a range of structural and functional properties with the equivalent jawed vertebrate Hb locus. Functional analysis demonstrates that an erythroid-specific enhancer is located in intron 7 of lamprey nprl3, which corresponds to the NPRL3 intron 7 MCS-R1 enhancer of jawed vertebrates. Collectively, our findings signify ...
https://www.onmedica.com/posts/an-evolutionary-ancient-mechanism-for-regulation-of-hemoglobin-expression-in-vertebrate-red-cells
Production of F cells in sickle cell anemia: regulation by a genetic locus or loci separate from the beta-globin gene cluster |...Production of F cells in sickle cell anemia: regulation by a genetic locus or loci separate from the beta-globin gene cluster |...
Levels of fetal hemoglobin (HbF) bearing reticulocytes (F reticulocytes) range from 2% to 50% in patients with sickle cell (SS) anemia. To learn whether any portion of such variation in F cell production is regulated by loci genetically separable from the beta- globin gene cluster, percentages of F reticulocytes were compared in 59 sib pairs composed solely of SS members, including 40 pairs from Jamaica and 19 from the United States. We reasoned that differences in F reticulocyte levels might arise (1) from any of several kinds of artifact, (2) via half-sib status, or (3) because one or more genes regulating F cell production segregate separately from beta S. We minimized the role of artifact by assay of fresh samples from 84 SS individuals, including both members of 38 sib pairs. In 78 of the 84 subjects, serial values for percent F reticulocytes fell within 99.9% confidence limits or were alike by t test (P greater than or equal to .05). This left 32 sib pairs for which F reticulocyte levels ...
https://ashpublications.org/blood/article/64/5/1053/163964/Production-of-F-cells-in-sickle-cell-anemia
Features in the human beta-like globin gene clusterFeatures in the human beta-like globin gene cluster
951 1234 DNase hypersensitive site 4 4550 4775 DNase hypersensitive site 3 8486 8860 DNase hypersensitive site 2 12752 13769 DNase hypersensitive site 1 116 431 Right Alu 1968 2258 Left Alu 5605 5918 Right Alu 8019 8314 Right Alu 10612 10924 Right Alu 12912 13066 Left L1 14836 15071 Right L1 16918 17218 Left Alu 17940 18231 Right Alu 19486 21080 epsilon-globin gene 19486 19632 Exon 1 19755 19977 Exon 2 20833 21080 Exon 3 23118 31136 Left L1 25885 27987 Left InnerL1 32407 32711 Right Alu 32986 33101 Left L1 34478 36069 G-gamma-globin gene 34478 34622 Exon 1 34745 34967 Exon 2 35854 36069 Exon 3 37921 38039 Left L1 39414 40985 A-gamma-globin gene 39414 39558 Exon 1 39681 39903 Exon 2 40770 40985 Exon 3 42695 43274 Left L1 44788 45108 Right Alu 45658 47272 eta-globin pseudo gene 45658 45800 Exon 1 45922 46144 Exon 2 46997 47272 Exon 3 50895 51198 Left Alu 51976 52276 Right Alu 53222 53540 Left L1 54740 56389 delta-globin gene 54740 54881 Exon 1 55010 55232 Exon 2 56131 56389 Exon 3 62137 63742 ...
http://globin.cse.psu.edu/globin/data/globin.html
Beta-thalassemia | definition of beta-thalassemia by Medical dictionaryBeta-thalassemia | definition of beta-thalassemia by Medical dictionary
Looking for online definition of beta-thalassemia in the Medical Dictionary? beta-thalassemia explanation free. What is beta-thalassemia? Meaning of beta-thalassemia medical term. What does beta-thalassemia mean?
http://medical-dictionary.thefreedictionary.com/beta-thalassemia
Phage-assisted evolution of an adenine base editor with improved Cas domain compatibility and activity | Nature BiotechnologyPhage-assisted evolution of an adenine base editor with improved Cas domain compatibility and activity | Nature Biotechnology
Applications of adenine base editors (ABEs) have been constrained by the limited compatibility of the deoxyadenosine deaminase component with Cas homologs other than SpCas9. We evolved the deaminase component of ABE7.10 using phage-assisted non-continuous and continuous evolution (PANCE and PACE), which resulted in ABE8e. ABE8e contains eight additional mutations that increase activity (kapp) 590-fold compared with that of ABE7.10. ABE8e offers substantially improved editing efficiencies when paired with a variety of Cas9 or Cas12 homologs. ABE8e is more processive than ABE7.10, which could benefit screening, disruption of regulatory regions and multiplex base editing applications. A modest increase in Cas9-dependent and -independent DNA off-target editing, and in transcriptome-wide RNA off-target editing can be ameliorated by the introduction of an additional mutation in the TadA-8e domain. Finally, we show that ABE8e can efficiently install natural mutations that upregulate fetal hemoglobin expression
https://www.nature.com/articles/s41587-020-0453-z?proof=t&error=cookies_not_supported&code=63f50573-ec82-4a08-964d-2a06c35128b4
Circulating cell-free DNA - QIAGENCirculating cell-free DNA - QIAGEN
Cancer researchers have an exciting new tool at their disposal: circulating cell-free DNA (ccfDNA) collected in minimally invasive liquid biopsies. With the potential to provide real-time mutational information about primary and metastatic tumors, cfDNA has significant potential for the detection and monitoring of biomarkers for cancer and other diseases. ...
https://www.qiagen.com/no/qdm/lbs/liquid-biopsy-cfdna/
Electrical Insulators - Custom Cut - Materials DirectElectrical Insulators - Custom Cut - Materials Direct
Protect against unwanted electrical discharge with Electrical Insulators. We offer a range of Electrical Insulators with thermal transfer properties.
https://materials-direct.com/product-category/electrical-insulators/
United States Insulator Material Market Report 2017 : ReportsnReports
[107 Pages Report] Check for Discount on United States Insulator Material Market Report 2017 report by QYResearch Group. In this report, the United States Insulator Material market is...
http://www.reportsnreports.com/reports/1143748-united-states-insulator-material-market-report-2017.html
Global Glass Insulators Market Growth 2021-2026Global Glass Insulators Market Growth 2021-2026
According to this latest study, the 2021 growth of Glass Insulators will have significant change from previous year. By the most conservative estimates of globa
https://www.bharatbook.com/report/833945/global-glass-insulators-market-growth
Variant of uncertain significanceVariant of uncertain significance
Marotta CA, Wilson JT, Forget BG, Weissman SM (July 1977). "Human beta-globin messenger RNA. III. Nucleotide sequences derived ... it was known that the disease was caused by a mutation in the β-globin gene. In 1977, in the third of a series of 3 research ...
https://en.wikipedia.org/wiki/Variant_of_uncertain_significance
HBE1HBE1
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 ...
https://en.wikipedia.org/wiki/HBE1
Bryant VilleponteauBryant Villeponteau
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 ...
https://en.wikipedia.org/wiki/Bryant_Villeponteau
HBG1HBG1
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". ...
https://en.wikipedia.org/wiki/HBG1
Locus control regionLocus control region
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- ...
https://en.wikipedia.org/wiki/Locus_control_region
Hemoglobin, alpha 2Hemoglobin, alpha 2
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 ...
https://en.wikipedia.org/wiki/Hemoglobin,_alpha_2
Copy number variationCopy number variation
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. ...
https://en.wikipedia.org/wiki/Copy_number_variation
Ross HardisonRoss Hardison
"The structure and transcription of four linked rabbit beta-like globin genes". Cell. 18 (4): 1285-1297. doi:10.1016/0092-8674( ...
https://en.wikipedia.org/wiki/Ross_Hardison
Haig H. Kazazian Jr.Haig H. Kazazian Jr.
"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 ...
https://en.wikipedia.org/wiki/Haig_H._Kazazian_Jr.
IntronIntron
Kinniburgh AJ, Mertz JE, Ross J (July 1978). "The precursor of mouse beta-globin messenger RNA contains two intervening RNA ... "Intervening sequence of DNA identified in the structural portion of a mouse beta-globin gene". Proceedings of the National ...
https://en.wikipedia.org/wiki/Intron
Molecular diagnosticsMolecular diagnostics
"Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in ...
https://en.wikipedia.org/wiki/Molecular_diagnostics
Francisco Ernesto BaralleFrancisco Ernesto Baralle
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 ...
https://en.wikipedia.org/wiki/Francisco_Ernesto_Baralle
Point mutationPoint mutation
... 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 ...
https://en.wikipedia.org/wiki/Point_mutation
NFE2NFE2
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. ...
https://en.wikipedia.org/wiki/NFE2
Testicular receptor 4Testicular receptor 4
Tanabe O, Katsuoka F, Campbell AD, Song W, Yamamoto M, Tanimoto K, Engel JD (Jul 2002). "An embryonic/fetal beta-type globin ...
https://en.wikipedia.org/wiki/Testicular_receptor_4
Nancy HaigwoodNancy Haigwood
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 ...
https://en.wikipedia.org/wiki/Nancy_Haigwood
AchéAché
The Beta-Globin Gene Cluster Distribution Revisited-Patterns in Native American Populations. Archived September 10, 2008, at ...
https://en.wikipedia.org/wiki/Aché
Nuclear organizationNuclear organization
... 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: ...
https://en.wikipedia.org/wiki/Nuclear_organization
Genetically modified animalGenetically modified animal
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 ...
https://en.wikipedia.org/wiki/Genetically_modified_animal
Chromosome conformation captureChromosome conformation capture
... 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 disorders caused by a deletion of LCR enhancer element. Holoprosencephaly is ...
https://en.wikipedia.org/wiki/Chromosome_conformation_capture
Patrick CharnayPatrick Charnay
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 ...
https://en.wikipedia.org/wiki/Patrick_Charnay
CTCFCTCF
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 ...
https://en.wikipedia.org/wiki/CTCF
Genetically modified organismGenetically modified organism
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.. ...
https://en.wikipedia.org/wiki/Genetically_modified_organism
Yuet Wai KanYuet Wai Kan
Kan, Yuet Wai; Dozy, Andree M. (1978). "Polymorphism of DNA sequence adjacent to human beta-globin structural gene: ... His 1979 report on the cause of beta-thalassemia established the disease-causing ability of SNPs, where he found that a ... nonsense mutation, a type of point mutation, led to the truncation of the beta chains of hemoglobin. In prenatal testing ...
https://en.wikipedia.org/wiki/Yuet_Wai_Kan
GATA1GATA1
Molete JM, Petrykowska H, Sigg M, Miller W, Hardison R (Jan 2002). "Functional and binding studies of HS3.2 of the beta-globin ... Martin DI, Tsai SF, Orkin SH (Mar 1989). "Increased gamma-globin expression in a nondeletion HPFH mediated by an erythroid- ... R216W: characterized by a beta thalassemia-type disease, i.e. microcytic anemia, absence of hemoglobin B, and hereditary ... R216Q: familial disease characterized by mild anemia with features of heterozygous rather than homozygous (i.e. overt) beta ...
https://en.wikipedia.org/wiki/GATA1
Transfusion-dependent anemiaTransfusion-dependent anemia
Beta-thalassemia is a genetic disease mostly caused by beta-globin gene mutations. Clinical diagnosis is based on ... Patients with beta thalassemia major are more affected and are recommended to receive transfusion throughout their lives. ... Therefore, other than diagnosing anemias that require transfusion, diagnosis for the two main causes (beta-thalassemia and ... Transfusion is also one of the treatment strategies for beta-thalassemia patients and patients with myelodysplastic syndrome ( ...
https://en.wikipedia.org/wiki/Transfusion-dependent_anemia
ThalassemiaThalassemia
The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin ... zeta globins) and two ε globins (epsilon globins) (ζ2ε2) Hb Gower-2, composed of two alpha globins and two epsilon globins ( ... The HSCs then have a beta-globin gene added using a lentiviral vector. After destroying the affected person's bone marrow with ... HbF induction is an attempt to reactivate fetal globin gene transcription. Efforts involve trying to disrupt the fetal globin ...
https://en.wikipedia.org/wiki/Thalassemia
Tsuneko OkazakiTsuneko Okazaki
"Cell to cell transfer of the chromatin-packaged human beta-globin gene cluster". Nucleic Acids Research. 38 (5): e33. doi: ...
https://en.wikipedia.org/wiki/Tsuneko_Okazaki
Super-enhancerSuper-enhancer
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: ...
https://en.wikipedia.org/wiki/Super-enhancer
HemoglobinHemoglobin
The hemoglobin subunit beta is coded by HBB gene which is on chromosome 11 . The amino acid sequences of the globin proteins in ... 2009). "Unexpected expression of alpha- and beta-globin in mesencephalic dopaminergic neurons and glial cells". Proceedings of ... without even a single amino acid difference in either the alpha or the beta globin protein chains. Whereas the human and ... heme/globin-containing molecules (even monomeric globin ones) that deal with gas-binding are referred to as oxyhemoglobins. In ...
https://en.wikipedia.org/wiki/Hemoglobin
Alternative splicing - Simple English Wikipedia, the free encyclopediaAlternative splicing - Simple English Wikipedia, the free encyclopedia
"Abnormally spliced beta-globin mRNAs: a single point mutation generates transcripts sensitive and insensitive to nonsense- ...
https://simple.m.wikipedia.org/wiki/Alternative_splicing
Ati - WikipédiaAti - Wikipédia
Hemoglobin kang kakandhut ing njeroné dipecah dadi dat wesi, globin, lan heme. Dat wesi lan globin didhaur ulang, éwadéné heme ... "Coffee and type 2 diabetes: from beans to beta-cells". Department of Nutrition, Harvard School of Public Health; van Dam RM. ... "Hypermethylation of growth arrest DNA damage-inducible gene 45 beta promoter in human hepatocellular carcinoma". Department of ... kanthi paningkatan laju oksidasi-beta asem lemak, bakal dumadi akumulasi èlèktron ing respiratory chain komplèks I lan III kang ...
https://jv.wikipedia.org/wiki/Liver
Plazma (qon) - VikipediyaPlazma (qon) - Vikipediya
Qon plazmasidan dori preparatlar (albuminlar, fibrinogen, gamoma-globin va boshqalar) tayyorlanadi.[1][2]Odam qon plazmasining ... Beta-globulinlar fosfolipid, xolesterin, stereoid gormon va metall kationlarini tashilishi uchun xizmat qiladi. Metali bor ...
https://uz.m.wikipedia.org/wiki/Plazma_
Promoter (genetics)Promoter (genetics)
Kulozik AE, Bellan-Koch A, Bail S, Kohne E, Kleihauer E (May 1991). "Thalassemia intermedia: moderate reduction of beta globin ... Examples include: Asthma Beta thalassemia Rubinstein-Taybi syndrome Some promoters are called constitutive as they are active ... Hobbs K, Negri J, Klinnert M, Rosenwasser LJ, Borish L (December 1998). "Interleukin-10 and transforming growth factor-beta ...
https://en.wikipedia.org/wiki/Promoter_(genetics)
Embryonic hemoglobinEmbryonic hemoglobin
... composed of two zeta chains and two beta chains. It is quite unstable, more so than even hemoglobin Gower 1, and breaks down ... and β-Thalassemias in Mice by Expression of Human Embryonic Globins". Blood. 92 (9): 3057-3063. doi:10.1182/blood.V92.9.3057. ... beta(2)) assembled in complex transgenic-knockout mice". Blood. 97 (4): 1099-1105. doi:10.1182/blood.V97.4.1099. PMID 11159543 ...
https://en.wikipedia.org/wiki/Embryonic_hemoglobin
Sickle cell-beta thalassemiaSickle cell-beta thalassemia
A sickle allele is always the same mutation of the beta-globin gene (glutamic acid to valine at amino acid six). In contrast, ... Sickle cell-beta thalassemia is caused by inheritance of a sickle cell allele from one parent and a beta thalassemia allele ... Sickle cell-beta thalassemia is an inherited blood disorder. The disease may range in severity from being relatively benign and ... "Newborn Screening Program - Sickle Cell Beta Thalassemia Disease". www.idph.state.il.us. Retrieved 2015-06-18. Ashley-Koch, A; ...
https://en.wikipedia.org/wiki/Sickle_cell-beta_thalassemia
Index of biochemistry articlesIndex of biochemistry articles
... beta-2 microglobulin - beta adrenergic receptor - beta sheet - beta-1 adrenergic receptor - beta-2 adrenergic receptor - beta- ... globin - glucagon - glucagon receptor - glucocorticoid receptor - glucose - glutamate - glutamate receptor - glutamic acid - ... transforming growth factor beta - transforming growth factor beta receptor - transient receptor potential - translation ( ... alpha-beta T-cell antigen receptor - alpha-fetoprotein - alpha-globulin - alpha-macroglobulin - alpha-MSH - Ames test - amide ...
https://en.wikipedia.org/wiki/Index_of_biochemistry_articles
BACH1BACH1
"Heme positively regulates the expression of beta-globin at the locus control region via the transcriptional factor Bach1 in ... Tahara T, Sun J, Igarashi K, Taketani S (Nov 2004). "Heme-dependent up-regulation of the alpha-globin gene expression by ...
https://en.wikipedia.org/wiki/BACH1
CUTL1CUTL1
Chattopadhyay S, Whitehurst CE, Chen J (1998). "A nuclear matrix attachment region upstream of the T cell receptor beta gene ... Ottolenghi S, Mantovani R, Nicolis S, Ronchi A, Giglioni B (1990). "DNA sequences regulating human globin gene transcription in ...
https://en.wikipedia.org/wiki/CUTL1
HBDHBD
... beta - 3'. Mutations in the delta-globin gene are associated with Delta-thalassemia. Hemoglobin Human β-globin locus ... Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5' - epsilon - gamma-G - ... The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA ... "A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081-104. doi:10.1182/blood.V73.5. ...
https://en.wikipedia.org/wiki/HBD
Y box binding protein 1Y box binding protein 1
Lloberas J, Maki RA, Celada A (1995). "Repression of major histocompatibility complex I-A beta gene expression by dbpA and dbpB ... domain binds specifically to H-DNA upstream from the human gamma-globin genes". J. Biol. Chem. 269 (19): 14130-9. doi:10.1016/ ...
https://en.wikipedia.org/wiki/Y_box_binding_protein_1
EpigenomicsEpigenomics
552-3. van der Ploeg LH, Flavell RA (April 1980). "DNA methylation in the human gamma delta beta-globin locus in erythroid and ... Different regions of the gene (gamma delta beta globin) were known to be expressed at different stages of development. ...
https://en.wikipedia.org/wiki/Epigenomics
HepcidinHepcidin
β-thalassemia, one of the most common congenital anemias, arises from partial or complete lack of β-globin synthesis. Excessive ... Hepcidin is a tightly folded polypeptide with 32% beta sheet character and a hairpin structure stabilized by 4 disulfide bonds ... and also decreases formation of insoluble membrane-bound globins and reactive oxygen species, and improves anemia. Mice with ...
https://en.wikipedia.org/wiki/Hepcidin
OR51B6OR51B6
1999). "Conservation of sequence and structure flanking the mouse and human beta-globin loci: the beta-globin genes are ... 2001). "Comparative structural and functional analysis of the olfactory receptor genes flanking the human and mouse beta-globin ...
https://en.wikipedia.org/wiki/OR51B6
Michael P. SnyderMichael P. Snyder
"GATA-1 binding sites mapped in the beta-globin locus by using mammalian chIp-chip analysis - PubMed". Proceedings of the ...
https://en.wikipedia.org/wiki/Michael_P._Snyder
Oral manifestations of systemic diseaseOral manifestations of systemic disease
... it can result in either a reduced or absent globin chain production. If beta thalassaemia major is left untreated or under ... Beta thalassaemia major patients may also be on bisphosphonates and are therefore at risk of developing osteonecrosis of the ... Diabetes Mellitus has two main types: Type 1, autoimmune destruction of beta-cells leading to reduced insulin production and ...
https://en.wikipedia.org/wiki/Oral_manifestations_of_systemic_disease
Hemoglobin subunit betaHemoglobin subunit beta
... (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 ...
https://en.wikipedia.org/wiki/Hemoglobin_subunit_beta
Protein fold classProtein fold class
Common examples include the bromodomain, the globin fold and the homeodomain fold. All-β proteins are a class of structural ... Common examples include the SH3 domain, the beta-propeller domain, the immunoglobulin fold and B3 DNA binding domain. α+β ...
https://en.wikipedia.org/wiki/Protein_fold_class
Hemoglobin OHemoglobin O
Since the amino acid substitution can occur at different positions of the β-globin chain of the protein, there are several ... Dror, Sayar (2013). "Clinical and hematological features of homozygous hemoglobin O-Arab [beta 121 Glu → Lys]". Pediatric Blood ...
https://en.wikipedia.org/wiki/Hemoglobin_O
Polymerase chain reactionPolymerase chain reaction
"Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia". ... Mullis's 1985 paper with R. K. Saiki and H. A. Erlich, "Enzymatic Amplification of β-globin Genomic Sequences and Restriction ...
https://en.wikipedia.org/wiki/Polymerase_chain_reaction
Digital polymerase chain reactionDigital polymerase chain reaction
December 2010). "Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin ... by diluting DNA samples from a normal human cell line with DNA from a mutant line having a homozygous deletion of the β-globin ... rose out of an approach first published in 1988 by Cetus Corporation when researchers showed that a single copy of the β-globin ...
https://en.wikipedia.org/wiki/Digital_polymerase_chain_reaction
Murine respirovirusMurine respirovirus
Pretreatment of human lung fibroblasts MRC-5 cells with IFN-beta inhibits the replication of SeV. A similar IFN-beta protection ... a new human erythroleukemia cell line with spontaneous and induced globin expression". Science. 216 (4551): 1233-5. Bibcode: ... 1 beta (IL-1β). SeV is a very effective stimulant of expression of human beta-defensin-1 (hBD-1). This protein is a member of ... tumor necrosis factor-beta (TNF-beta), interleukin-6 (IL-6 ), interleukin-8 (IL-8), interleukin-1 alpha (IL1A), interleukin-1 ...
https://en.wikipedia.org/wiki/Murine_respirovirus
CAG promoterCAG promoter
... the first exon and the first intron of chicken beta-actin gene, (G) the splice acceptor of the rabbit beta-globin gene The ... In addition to the CMV immediate early enhancer, the intron of the chicken beta actin gene contains an enhancer element, which ... Alexopoulou, AN; Couchman, JR; Whiteford, JR (2008). "The CMV early enhancer/chicken beta actin (CAG) promoter can be used to ... "Expression vector system based on the chicken beta-actin promoter directs efficient production of interleukin-5". Gene. 79 (2 ...
https://en.wikipedia.org/wiki/CAG_promoter
HBG2HBG2
The order of the genes in the beta-globin cluster is: 5' - epsilon - gamma-G - gamma-A - delta - beta - 3'. GRCh38: Ensembl ... The gamma globin genes (HBG1 and HBG2, this gene) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma ... In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma ... 1985). "Sequences of G gamma, A gamma, and beta genes of the Greek (A gamma) HPFH mutant: evidence for a distal CCAAT box ...
https://en.wikipedia.org/wiki/HBG2
DNA unwinding elementDNA unwinding element
DUE-Bs form homodimers that create an extended beta-sheet secondary structure extending across it. Two of these homodimers come ... associated with known proteins like the c-myc and β-globin gene. Ones with DUEs thought to act in nearly same way as yeast ...
https://en.wikipedia.org/wiki/DNA_unwinding_element
Nonsense-mediated decayNonsense-mediated decay
For instance, the blood disorder Beta thalassemia is inherited and caused by mutations within the upstream of the β-globin gene ... An individual carrying only one affected allele will have no or extremely low levels of the mutant β-globin mRNA. An even more ...
https://en.wikipedia.org/wiki/Nonsense-mediated_decay
Kruppel-like factorsKruppel-like factors
"KLF2 is essential for primitive erythropoiesis and regulates the human and murine embryonic beta-like globin genes in vivo". ... KLF2 (originally Lung KLF ) also has a role in embryonic globin gene expression, as does KLF3 (originally Basic KLF). KLF3 also ... Naturally occurring human mutations in the KLF1 gene have been associated with de-repression of the fetal globin gene. ...
https://en.wikipedia.org/wiki/Kruppel-like_factors
Methemoglobinemia, beta-globin type: MedlinePlus GeneticsMethemoglobinemia, beta-globin type: MedlinePlus Genetics
... 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. ...
https://medlineplus.gov/genetics/condition/methemoglobinemia-beta-globin-type
The Human Beta--Globin Pseudogene is Non--Variable and Functional | The Institute for Creation ResearchThe Human Beta--Globin Pseudogene is Non--Variable and Functional | The Institute for Creation Research
The HBBP1 gene also has the most regulatory associations with active and open chromatin within the entire β-globin cluster and ... One of the iconic (yet enigmatic) arguments for human-ape common ancestry has been the β-globin pseudogene (HBBP1). ... research confirms that the HBBP1 region of the 6-gene β-globulin cluster is highly non-variable compared to the other β-globin ... genomics data showing that the HBBP1 gene is transcriptionally active and a key interactive component of the β-globin gene ...
https://www.icr.org/article/human-beta-globin-pseudogene-non-variable/
Haplotypes of the beta-globin gene as prognostic factors in sickle-cell diseaseHaplotypes of the beta-globin gene as prognostic factors in sickle-cell disease
... ... 1999)‎. Haplotypes of the beta-globin gene as prognostic factors in sickle-cell disease. EMHJ - Eastern Mediterranean Health ... Our results suggest that beta-globin gene haplotypes influence the clinical presentation of sickle-cell disease, and that there ...
https://apps.who.int/iris/handle/10665/118810
1DXV: High-resolution X-ray Study Of Deoxy Recombinant Human Hemoglobins Synthesized From Beta-globins Having Mutated Amino...1DXV: High-resolution X-ray Study Of Deoxy Recombinant Human Hemoglobins Synthesized From Beta-globins Having Mutated Amino...
1DXV: High-resolution X-ray Study Of Deoxy Recombinant Human Hemoglobins Synthesized From Beta-globins Having Mutated Amino ... BETA CHAIN)HemeProtoporphyrin Ix Containing FeSulfate Ion ...
https://www.ncbi.nlm.nih.gov/Structure/pdb/1DXV
Haplotypes of the beta-globin gene as prognostic factors in sickle-cell diseaseHaplotypes of the beta-globin gene as prognostic factors in sickle-cell disease
... ... 1999)‎. Haplotypes of the beta-globin gene as prognostic factors in sickle-cell disease. EMHJ - Eastern Mediterranean Health ... Our results suggest that beta-globin gene haplotypes influence the clinical presentation of sickle-cell disease, and that there ...
https://extranet.who.int/iris/restricted/handle/10665/118810
Evolution of the primate beta-globin gene region: nucleotide sequence of the delta-beta-globin intergenic region of gorilla and...Evolution of the primate beta-globin gene region: nucleotide sequence of the delta-beta-globin intergenic region of gorilla and...
... part of the β-globin gene and about 4.5 kb of its upstream flanking region was cloned and sequenced. The sequence was compared ... Evolution of the primate beta-globin gene region: nucleotide sequence of the delta-beta-globin intergenic region of gorilla and ... Evolution of the primate beta-globin gene region: nucleotide sequence of the delta-beta-globin intergenic region of gorilla and ... Abstract : A 6.0-kb DNA fragment from Gorilla gorilla including the 5′ part of the β-globin gene and about 4.5 kb of its ...
https://hal.archives-ouvertes.fr/hal-00698137
Paper: Single-Cell RNA Sequencing of Sickle Cell Reticulocytes to Identify Beta-Globin Genotypes and Associated Gene Expression...Paper: Single-Cell RNA Sequencing of Sickle Cell Reticulocytes to Identify Beta-Globin Genotypes and Associated Gene Expression...
3468 Single-Cell RNA Sequencing of Sickle Cell Reticulocytes to Identify Beta-Globin Genotypes and Associated Gene Expression ... is a genetic condition typically caused by a single point mutation in both copies of the beta-globin (HBB) gene, resulting in ...
https://ash.confex.com/ash/2022/webprogram/Paper162370.html
Platypus globin genes and flanking loci suggest a new insertional model for beta-globin evolution in birds and mammals | BMC...Platypus globin genes and flanking loci suggest a new insertional model for beta-globin evolution in birds and mammals | BMC...
The platypus α-globin cluster (chromosome 21) contains embryonic and adult α- globin genes, a β-like ω-globin gene, and the GBY ... Thus, the mammalian α- and β-globin clusters are orthologous to the bird α- and β-globin clusters respectively. We propose that ... From tandem duplication of a single globin locus, the α- and β-globin clusters expanded, and then were separated onto different ... The platypus β-globin cluster (chromosome 2) contains single embryonic and adult globin genes arranged as 5-ε-β-3. ...
https://bmcbiol.biomedcentral.com/articles/10.1186/1741-7007-6-34/figures/8
Combination of a triple alpha-globin gene with beta-thalassemia in a gypsy family: importance of the genetic testing in the...Combination of a triple alpha-globin gene with beta-thalassemia in a gypsy family: importance of the genetic testing in the...
... in intron 1 of the hemoglobin beta globin gene and a non-pathogenic sequence variant (single nucleotide polimorfism (SNP) ... kb fragment that contained only the hemoglobin alpha globin gene-2 gene. This finding led to screening and follow up in first- ... From: Combination of a triple alpha-globin gene with beta-thalassemia in a gypsy family: importance of the genetic testing in ...
https://bmcresnotes.biomedcentral.com/articles/10.1186/s13104-016-2027-1/figures/1
Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next...
Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next ... Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next ... alpha globin (HBA) gene duplications, next generation sequencing, non-transfusion dependent thalassaemia, Alleles, Gene ...
https://www.imm.ox.ac.uk/publications/636750
beta-Globins | Profiles RNS
They include epsilon-globin, gamma-globin, delta-globin and beta-globin. There is also a pseudogene of beta (theta-beta) in the ... "beta-Globins" by people in this website by year, and whether "beta-Globins" was a major or minor topic of these publications. ... Adult HEMOGLOBIN is comprised of two ALPHA-GLOBIN chains and two beta-globin chains. ... "beta-Globins" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical Subject ...
https://profiles.rush.edu/display/17862
beta-Globins/genetics | Ian..."beta-Globins/genetics" | Ian...
Professor of Biostatistics and Informatics
https://ianhambleton.com/tag/beta-globins/genetics/
Globin gene mapping in normal Hb A2 types of beta-thalassaemia - Radcliffe Department of MedicineGlobin gene mapping in normal Hb A2 types of beta-thalassaemia - Radcliffe Department of Medicine
We conclude that deletions such as those responsible for gamma beta-thalassaemia or a silent Hb Lepore are not responsible ... failed to detect any difference from normal in their globin-gene arrangement. ... Globin-gene mapping of DNA from 13 families with normal Hb A2 beta-thalassaemia (both type 1 and type 2) ... for this type of beta-thalassaemia in Greece. ... Globin gene mapping in normal Hb A2 types of beta-thalassaemia ...
https://www.rdm.ox.ac.uk/publications/611215
Complete nucleotide sequence of the 5 noncoding region of human alpha-and beta-globin mRNA - WikidataComplete nucleotide sequence of the 5' noncoding region of human alpha-and beta-globin mRNA - Wikidata
Complete nucleotide sequence of the 5 noncoding region of human alpha-and beta-globin mRNA. scientific article published on ... Complete nucleotide sequence of the 5 noncoding region of human alpha-and beta-globin mRNA (English) ...
https://m.wikidata.org/wiki/Q48417054
CHARACTERIZATION OF BETA-GLOBIN MESSENGER-RNA IN BETA-O THALASSEMIAS - Oxford Neuroscience
CHARACTERIZATION OF BETA-GLOBIN MESSENGER-RNA IN BETA-O THALASSEMIAS OLD JM., PROUDFOOT NJ., WOOD WG., LONGLEY JI., CLEGG JB., ...
https://www.neuroscience.ox.ac.uk/publications/16253
Origin and Expansion of Four Different Beta Globin Mutations in a Single Arab Village. - Aravinda Chakravarti LabOrigin and Expansion of Four Different Beta Globin Mutations in a Single Arab Village. - Aravinda Chakravarti Lab
0 0 aravinda-admin aravinda-admin2005-05-08 20:45:052022-06-11 17:23:55Origin and Expansion of Four Different Beta Globin ... Origin and Expansion of Four Different Beta Globin Mutations in a Single Arab Village.. May 8, 2005. /in Publications/by ... Origin and Expansion of Four Different Beta Globin Mutations in a Single Arab Village. Amer J Hum Biol 17:659-661, 2005. PMID ...
https://aravindachakravartilab.org/origin-and-expansion-of-four-different-beta-globin-mutations-in-a-single-arab-village/
Major beta-globin gene mutations in eastern India and their associated haplotypes - Fingerprint - Albert Einstein College...Major beta-globin gene mutations in eastern India and their associated haplotypes - Fingerprint - Albert Einstein College...
Dive into the research topics of Major beta-globin gene mutations in eastern India and their associated haplotypes. Together ... Major beta-globin gene mutations in eastern India and their associated haplotypes. ...
https://einstein.pure.elsevier.com/en/publications/major-beta-globin-gene-mutations-in-eastern-india-and-their-assoc-2/fingerprints/
Towards Transformative Therapies for Sickle Cell Disease | The New York Academy of SciencesTowards Transformative Therapies for Sickle Cell Disease | The New York Academy of Sciences
... we hope to further improve in vitro beta globin expression via genetic/epigenetic modulation of the globin loci. Such a ... Enucleation and Beta-Globin Expression in Induced Red Blood Cells: A Platform to Model Sickle Cell Anemia. Speaker ... However, in vitro modeling of SCA with reprogrammed cells has been limited by their inability to differentiate into beta globin ... Concurrently, we further improved the in vitro differentiation protocols described to generate 30-40% beta-globin-expressing, ...
https://www.nyas.org/events/2017/towards-transformative-therapies-for-sickle-cell-disease/
WHO EMRO | Features of sickle-cell disease in Bahrain | Volume 1, issue 1 | EMHJ volume 1, 1995
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, ...
http://www.emro.who.int/emhj-volume-1-1995/volume-1-issue-1/article13.html
Complete Blood Count: Domestic Guidelines | CDCComplete Blood Count: Domestic Guidelines | CDC
Thalassemias are a group of disorders characterized by a decrease in either the alpha or beta globin chain production in red ... People who have inherited two deleted beta globin genes have β-thalassemia major. Typically symptoms manifest at 8 to 10 months ... People who have inherited one deleted beta globin gene have β-thalassemia minor (trait). These people have mild microcytic ... Four conditions make up the α-thalassemias, defined by the number of inherited deletions of the four alpha globin genes.10 If ...
https://www.cdc.gov/immigrantrefugeehealth/guidelines/domestic/general/complete-blood-count.html
Alpha Thalassemia (for Parents) - Willis-Knighton Health SystemAlpha Thalassemia (for Parents) - Willis-Knighton Health System
Alpha thalassemia is a blood disorder in which the body has a problem producing alpha globin, a component of hemoglobin, the ... 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 ...
https://kidshealth.org/WillisKnighton/en/parents/thalassemias.html
SCOPe 2.08: Structural Classification of Proteins - extendedSCOPe 2.08: Structural Classification of Proteins - extended
Compound: hemoglobin (beta chain). Species: Homo sapiens [TaxId:9606]. Gene: HUMAN BETA GLOBIN. Database cross-references and ... Compound: hemoglobin (beta chain). Species: Homo sapiens [TaxId:9606]. Gene: HUMAN BETA GLOBIN. Database cross-references and ... Gene: HUMAN BETA GLOBIN. Database cross-references and differences (RAF-indexed): *Uniprot P69905 (0-140) Domains in SCOPe 2.08 ... Gene: HUMAN BETA GLOBIN. Database cross-references and differences (RAF-indexed): *Uniprot P69905 (0-140) Domains in SCOPe 2.08 ...
http://scop.berkeley.edu/pdb/code=1a0u
Ultra-deep sequencing validates safety of CRISPR/Cas9 genome editing in human hematopoietic stem and progenitor cells | Nature...Ultra-deep sequencing validates safety of CRISPR/Cas9 genome editing in human hematopoietic stem and progenitor cells | Nature...
Gene replacement of alpha-globin with beta-globin restores hemoglobin balance in beta-thalassemia-derived hematopoietic stem ... CRISPR/Cas9 beta-globin gene targeting in human haematopoietic stem cells. Nature 539, 384-389 (2016). ... CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells. Nat. Commun. ...
https://www.nature.com/articles/s41467-022-32233-z?utm_campaign=related_content&utm_source=BIOENG&utm_medium=communities&error=cookies_not_supported&code=3f25857b-bbb6-4215-b73a-5c3c476caf31
α1‐Antitrypsin mutations in NAFLD: High prevalence and association with altered iron metabolism but not with liver damage |...α1‐Antitrypsin mutations in NAFLD: High prevalence and association with altered iron metabolism but not with liver damage |...
Beta-globin mutations are associated with parenchymal siderosis and fibrosis in patients with non-alcoholic fatty liver disease ...
https://www.semanticscholar.org/paper/%CE%B11%E2%80%90Antitrypsin-mutations-in-NAFLD%3A-High-prevalence-Valenti-Dongiovanni/8dc21b982d849bbad117bf3b36fbc92fa187a431
Thalassemia | Lima Memorial Health System
Beta thalassemia occurs when similar gene defects affect production of the beta globin protein. ... Children born with beta thalassemia major (Cooley anemia) are normal at birth, but develop severe anemia during the first year ... Beta thalassemias occur most often in people of Mediterranean origin. To a lesser extent, Chinese, other Asians, and African ... Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated). ...
https://www.limamemorial.org/health-library/HIE%20Multimedia/1/000587
A link between hypoxia and fetal hemoglobin p | EurekAlert!A link between hypoxia and fetal hemoglobin p | EurekAlert!
... two beta-globin and two alpha-globin. Mutations in beta-globin cause sickle cell disease and beta-thalassemia. But humans have ... Gamma-globin combines with alpha-globin to form HbF. Normally around birth, gamma-globin expression is turned off and beta- ... "And very high HbF levels can cure these diseases, despite the defective beta-globin genes being present. Therefore, many ... another hemoglobin subunit gene (gamma-globin), which is expressed instead of beta-globin during fetal development. ...
https://www.eurekalert.org/news-releases/967665
NHANES 2003-2004: Bacterial vaginosis (BV) & Trichomonas vaginalis - Youth Data Documentation, Codebook, and Frequencies
Samples were tested for the presence of amplifiable DNA and absence of inhibitors by performing beta globin PCR. Beta globin is ... If the presence of beta globin couldnt be demonstrated, the validity of the sample wasnt determined. ... A sample will be considered uninterpretable if the specimen was found to be both Trichomonas and Beta globulin negative by PCR ...
https://wwwn.cdc.gov/Nchs/Nhanes/limited_access/L34_C_R.htm
Thalassemia Intermedia: Practice Essentials, Pathophysiology, PrognosisThalassemia Intermedia: Practice Essentials, Pathophysiology, Prognosis
In beta thalassemia, beta-globin gene mutation leads to the decrease or absence of beta-globin chain production. [1] The two ... Beta thalassemia results from beta-globin gene mutations that impair beta-globin chain synthesis. [1] Clinical severity forms ... Cerebrovascular accident in beta-thalassemia major (beta-TM) and beta-thalassemia intermedia (beta-TI). Am J Hematol. 2008 Jan ... Imbalanced ratio of alpha-to-beta chains. Another consequence of impaired beta-globin synthesis is the imbalanced ratio of ...
http://emedicine.medscape.com/article/959122-overview
Which medications in the drug class Erythroid Maturation Agents are used in the treatment of Beta Thalassemia?Which medications in the drug class Erythroid Maturation Agents are used in the treatment of Beta Thalassemia?
... the first erythroid maturation agent was approved for anemia in adults with beta thalassemia who require regular red blood cell ... Pomalidomide reverses γ-globin silencing through the transcriptional reprogramming of adult hematopoietic progenitors. Blood. ... Drugs & Diseases , Hematology , Beta Thalassemia Q&A Which medications in the drug class Erythroid Maturation Agents are used ... Basu S, Kumar A. Hair-on-end appearance in radiograph of skull and facial bones in a case of beta thalassaemia. Br J Haematol. ...
https://www.medscape.com/answers/206490-201039/which-medications-in-the-drug-class-gene-therapy-hematologics-are-used-in-the-treatment-of-beta-thalassemia
GenesCorrected beta globin geneMutationsHemoglobinMutationProtein subunitsPseudogeneProteinsGeneticSickle-cellFunctionalThalassaemiaLocusAnemiaRBCsGammaAlphaHumansChainsCHROMOSOMEClinicalTHALASSEMIASAbnormalDescriptorTheta-betaErythropoiesisVariantErythroidThalassemia intermediaHumanSymptomsProductionAbsencePeopleBloodType
Genes10
  • Recent research confirms that the HBBP1 region of the 6-gene β-globulin cluster is highly non-variable compared to the other β-globin genes based on large-scale DNA diversity assessment within both humans and chimpanzees. (icr.org)
  • Four conditions make up the α-thalassemias, defined by the number of inherited deletions of the four alpha globin genes. (cdc.gov)
  • People inherit the instructions (or genes) that make alpha globin and beta globin from their parents. (kidshealth.org)
  • Every child inherits four genes that make alpha globin: two from each parent. (kidshealth.org)
  • Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated). (limamemorial.org)
  • And very high HbF levels can cure these diseases, despite the defective beta-globin genes being present. (eurekalert.org)
  • They compared fragments of DNA from individuals' beta-globin genes, which produce a protein in hemoglobin. (asu.edu)
  • A person is required to inherit a total of four genes to produce alpha globin protein, two of these genes are inherited from the parents. (marketresearchfuture.com)
  • Xp11.23) that result in reduced expression of the beta-globin genes. (cdc.gov)
  • Alpha-globin gene analysis can confirm the absence of 2 alpha-globin genes. (medscape.com)
Corrected beta globin gene2
  • For them, autologous transplant with a corrected beta globin gene - gene therapy - is a tantalizing chance at a possibly one-time treatment. (medscape.com)
  • In hematopoietic stem cells (HSCs), Sangamo's genome editing can be used to precisely disrupt key transcriptional regulators to reverse the switch from expression of the mutant adult beta-globin back to the production of functional fetal gamma-globin, or the technology can be used to precisely insert a new corrected beta-globin gene to replace the defective copy. (hemophiliafed.org)
Mutations11
  • 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)
  • Origin and Expansion of Four Different Beta Globin Mutations in a Single Arab Village. (aravindachakravartilab.org)
  • Zlotogora J, Hujerat Y, Zalman L, Barges S, Filon D, Koren A, Shalev SA, Chakravarti A: Origin and Expansion of Four Different Beta Globin Mutations in a Single Arab Village. (aravindachakravartilab.org)
  • 0 0 aravinda-admin aravinda-admin 2005-05-08 20:45:05 2022-06-11 17:23:55 Origin and Expansion of Four Different Beta Globin Mutations in a Single Arab Village. (aravindachakravartilab.org)
  • Beta-globin mutations are associated with parenchymal siderosis and fibrosis in patients with non-alcoholic fatty liver disease. (semanticscholar.org)
  • Mutations in beta-globin cause sickle cell disease and beta-thalassemia. (eurekalert.org)
  • Beta thalassemia results from beta-globin gene mutations that impair beta-globin chain synthesis. (medscape.com)
  • Various versions of beta-globin result from different mutations in the HBB gene. (medlineplus.gov)
  • Other mutations in the HBB gene lead to additional abnormal versions of beta-globin such as hemoglobin C (HbC) and hemoglobin E (HbE). (medlineplus.gov)
  • If mutations that produce hemoglobin S and beta thalassemia occur together, individuals have hemoglobin S-beta thalassemia (HbSBetaThal) disease. (medlineplus.gov)
Hemoglobin25
  • 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)
  • Sickle cell disease (SCD) is a genetic condition typically caused by a single point mutation in both copies of the beta-globin (HBB) gene, resulting in sickle (S) hemoglobin (HbS) production instead of adult (A) hemoglobin (HbA). (confex.com)
  • Adult HEMOGLOBIN is comprised of two ALPHA-GLOBIN chains and two beta-globin chains. (rush.edu)
  • Alpha globin is a building block of hemoglobin. (kidshealth.org)
  • Hemoglobin is made of two alpha globins and two beta globins. (kidshealth.org)
  • Alpha globins and beta globins join together to make the hemoglobin that is inside of red blood cells. (kidshealth.org)
  • Adult hemoglobin contains four protein subunits - two beta-globin and two alpha-globin. (eurekalert.org)
  • But humans have another hemoglobin subunit gene (gamma-globin), which is expressed instead of beta-globin during fetal development. (eurekalert.org)
  • Normally around birth, gamma-globin expression is turned off and beta-globin is turned on, resulting in a switch from HbF to adult hemoglobin. (eurekalert.org)
  • It is exciting and gratifying that investigations into hemoglobin and globin gene expression continue to produce new, clinically relevant discoveries. (eurekalert.org)
  • One particular HBB gene mutation produces an abnormal version of beta-globin known as hemoglobin S (HbS). (medlineplus.gov)
  • In people with sickle cell disease, at least one of the beta-globin subunits in hemoglobin is replaced with hemoglobin S. In sickle cell anemia (also called homozygous sickle cell disease), which is the most common form of sickle cell disease, hemoglobin S replaces both beta-globin subunits in hemoglobin. (medlineplus.gov)
  • In other types of sickle cell disease, just one beta-globin subunit in hemoglobin is replaced with hemoglobin S. The other beta-globin subunit is replaced with a different abnormal variant, such as hemoglobin C. For example, people with sickle-hemoglobin C (HbSC) disease have hemoglobin molecules with hemoglobin S and hemoglobin C instead of beta-globin. (medlineplus.gov)
  • The alteration in the beta globin gene creates an antisickling effect similar to that of gamma globin, the subunit of fetal hemoglobin. (medscape.com)
  • The altered hemoglobin dampens polymerization of HbS and is also distinguishable from other globin chains using reverse-phase high-performance liquid chromatography. (medscape.com)
  • Building upon emerging science related to fetal hemoglobin regulation, we intend to develop Sangamo's novel gene-editing technology to create a single approach that has the potential to functionally cure both sickle cell disease and beta-thalassemia. (hemophiliafed.org)
  • Naturally occurring increased levels of therapeutic fetal hemoglobin have been shown to reduce the severity of both SCD and beta-thalassemia disorders in adulthood. (hemophiliafed.org)
  • Hemoglobin carries oxygen in the blood and is produced by two proteins called alpha globin and beta globin. (marketresearchfuture.com)
  • When two mutated beta hematohiston fractional monetary units bind to two wild type alpha sub units, formation of a an deviant hemoglobin called HbS takes topographic point. (freebooksummary.com)
  • In this procedure, the hydrophobic residues of the valine at place 6 of the beta concatenation of HbS associates with the hydrophobic spot, doing the hemoglobin molecules to aggregate and organize hempen precipitates. (freebooksummary.com)
  • Additional beta-chain and other hemoglobin abnormalities may also contribute to the clinical presentation and course. (medscape.com)
  • After infusion, transduced CD34+ HSCs engraft in bone marrow and differentiate to produce RBCs containing biologically active beta A-T87Q -globin (a modified beta-globin protein) that combines with alpha globin to produce functional hemoglobin containing beta A-T87Q -globin (Hb A-T87Q ). (medscape.com)
Mutation5
  • Alpha thalassemia is caused by a mutation (or change) in the gene (or instructions) that controls how much alpha globin to make. (kidshealth.org)
  • In alpha thalassemia, the body makes less alpha globin than beta globin because of the gene mutation. (kidshealth.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. (kidshealth.org)
  • SCD results from a point mutation at amino acid position 6 in the beta globin gene that causes polymerization of the protein and sickling of the erythrocytes that contain it, under low-oxygen conditions, obstructing microcirculation and damaging organs. (medscape.com)
  • The only structural mutation detected was betaS, which is typical of African populations. (embrapa.br)
Protein subunits1
  • consists of four protein subunits, typically, two subunits called alpha-globin and two subunits called beta-globin. (medlineplus.gov)
Pseudogene4
  • One of the iconic (yet enigmatic) arguments for human-ape common ancestry has been the β-globin pseudogene (HBBP1). (icr.org)
  • There is also a pseudogene of beta (theta-beta) in the gene cluster. (rush.edu)
  • The argument that the eta globin pseudogene has no function is consistent with most of the data, although lack of function has not been demonstrated. (grisda.org)
  • The possibility that the eta globin pseudogene provides a binding site for a molecule involved in gene regulation has not been ruled out. (grisda.org)
Proteins1
  • Brookmeyer, R et al,2007).Alzheimer 's disease is a type of a protein misfolding disease, caused by accretion of abnormally folded amyloid-beta and tau proteins in the encephalon. (freebooksummary.com)
Genetic1
  • Therefore, many laboratories are focused on understanding the perinatal switch from gamma- to beta-globin gene expression and figuring out new ways to reverse it with drugs or genetic therapies. (eurekalert.org)
Sickle-cell5
  • The finding has implications for treating sickle cell disease and beta-thalassemia, serious blood disorders that affect millions of individuals. (eurekalert.org)
  • We have known for many years that persistent HbF expression after birth can alleviate the symptoms of sickle cell disease and beta-thalassemia," said corresponding author Mitchell J. Weiss , M.D., Ph.D., St. Jude Hematology Department chair. (eurekalert.org)
  • Our findings indicate that proline hydroxylase inhibitors might be useful for treatment of sickle cell disease or beta-thalassemia, where turning on HbF production has therapeutic benefits," Weiss said. (eurekalert.org)
  • The agreement will enable Biogen Idec to further enhance its expertise in non-malignant hematology by leveraging Sangamo's proprietary genome-editing technology platform to develop treatments targeting sickle cell disease (SCD) and beta-thalassemia. (hemophiliafed.org)
  • Seven polymorphic sites in the beta-globin gene cluster were analyzed on a sample of 96 chromosomes of Venezuelan sickle cell patients from the State of Aragua. (embrapa.br)
Functional3
  • Biochemical evidence for functionality is indicated by multiple categories of functional genomics data showing that the HBBP1 gene is transcriptionally active and a key interactive component of the β-globin gene network. (icr.org)
  • Both diseases manifest after birth, when patients switch from producing functional fetal gamma-globin to a mutant form of adult beta-globin, which results in their condition. (hemophiliafed.org)
  • Betibeglogene autotemcel is an autologous one-time gene therapy that adds functional copies of a modified beta-globin gene into the patients' hematopoietic stem cells (HSCs) through transduction of autologous CD34+ cells with BB305 lentiviral vector (LVV). (medscape.com)
Thalassaemia8
  • Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis. (ox.ac.uk)
  • Effect of hydroxyurea on the transfusion requirements in patients with severe HbE-beta-thalassaemia: a genotypic and phenotypic study. (rush.edu)
  • Globin-gene mapping of DNA from 13 families with normal Hb A2 beta-thalassaemia (both type 1 and type 2) failed to detect any difference from normal in their globin-gene arrangement. (ox.ac.uk)
  • We conclude that deletions such as those responsible for gamma beta-thalassaemia or a 'silent' Hb Lepore are not responsible for this type of beta-thalassaemia in Greece. (ox.ac.uk)
  • Basu S, Kumar A. Hair-on-end appearance in radiograph of skull and facial bones in a case of beta thalassaemia. (medscape.com)
  • A form of beta-thalassaemia characterised by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassaemia. (cdc.gov)
  • Thalassaemia patients attending King Abdulaziz University Hospital were sequentially approached for en- rolment. (who.int)
  • characterized by a decrease or complete absence of As a chronic disorder, thalassaemia is a clinical and globin chain production ( 1 ). (who.int)
Locus2
  • Several of these microsatellites have been described within the β-globin locus and some could be involved in controlling gene expression. (elsevier.com)
  • We have examined whether replication of the chicken beta-globin locus changes during differentiation of primary erythroid progenitors into erythrocytes. (ens-lyon.fr)
Anemia7
  • The decrease in alpha globin causes anemia (not enough RBCs in the body) and can lead to other medical problems. (kidshealth.org)
  • The imbalance in alpha and beta globin causes anemia and leads to the other medical problems from alpha thalassemia. (kidshealth.org)
  • Beta thalassemia major is also called Cooley anemia. (limamemorial.org)
  • Children born with beta thalassemia major (Cooley anemia) are normal at birth, but develop severe anemia during the first year of life. (limamemorial.org)
  • In patients with beta thalassemia intermedia, anemia is present but individuals are not transfusion dependent. (medscape.com)
  • In November 2019, the first erythroid maturation agent was approved for anemia in adults with beta thalassemia who require regular red blood cell (RBC) transfusions. (medscape.com)
  • It is indicated for anemia in adults with beta thalassemia who require regular red blood cell transfusions. (medscape.com)
RBCs1
  • Thalassemias are a group of disorders characterized by a decrease in either the alpha or beta globin chain production in red blood cells (RBCs). (cdc.gov)
Gamma7
  • They include epsilon-globin, gamma-globin, delta-globin and beta-globin. (rush.edu)
  • Gamma-globin combines with alpha-globin to form HbF. (eurekalert.org)
  • The St. Jude group discovered that hypoxia inducible factor 1 (HIF1) directly promotes transcription of the gamma-globin gene to enhance HbF production. (eurekalert.org)
  • The drug, a proline hydroxylase inhibitor, caused HIF1 to accumulate, bind a DNA regulatory region near the gamma globin gene, activating its transcription to produce HbF and inhibit cell 'sickling. (eurekalert.org)
  • Identification of gamma-globin as a HIF target gene supports the notion that HbF evolved as a protective mechanism against hypoxia," Weiss said. (eurekalert.org)
  • Incluyen la epsilon globina, gamma globina, delta globina y beta globina. (bvsalud.org)
  • Most HPVs belong to genera alpha (e.g., genital and wart-associated types), beta, or gamma (cutaneous types) ( 1 ). (cdc.gov)
Alpha8
  • Alpha thalassemia is an inherited blood disorder in which the body doesn't make as much alpha globin. (kidshealth.org)
  • The decrease in alpha globin causes an imbalance in the amount of alpha and beta globin. (kidshealth.org)
  • People with the minor form of alpha and beta thalassemia have small red blood cells but no symptoms. (limamemorial.org)
  • Often folding involves first the establishment of regular secondary and supersecondary structures, particularly alpha helices and beta sheets , and afterwards tertiary structure . (bionity.com)
  • The regular alpha helix and beta sheet structures fold rapidly because they are stabilized by intramolecular hydrogen bonds, as was first characterized by Linus Pauling . (bionity.com)
  • Thalassemia is generally of two types: alpha thalassemia and beta thalassemia. (marketresearchfuture.com)
  • 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)
  • The history and physical findings in patients with alpha thalassemia vary according to the number of alpha-globin chains deleted. (medscape.com)
Humans1
  • The presence of similar eta globin pseudogenes in humans and chimps has been used as an argument for common ancestry of the two species. (grisda.org)
Chains1
  • Within the beta United States, 61(67 inclusive global value chains policy options for small and medium enterprises and low income countries and local norms Do read to colleagues over sterile companies from a digital name and range etiquette web. (oldandelegant.com)
CHROMOSOME2
  • The factor involved behind the sickling of RBC is the mutant of Beta Globin cistron located in chromosome 11. (freebooksummary.com)
  • globin cistron of chromosome 11, which consequences in the permutation of hydrophilic glutamic acidA to hydrophobic A valineA at the 6th place gives rise to mutated beta hematohiston sub unit. (freebooksummary.com)
Clinical1
  • Under the terms of the agreement, Sangamo is responsible for all research and development activities through the first clinical proof of concept trial in beta-thalassemia, and both companies will perform activities to enable submission of an Investigational New Drug (IND) application for SCD. (hemophiliafed.org)
THALASSEMIAS2
  • Beta thalassemias occur most often in people of Mediterranean origin. (limamemorial.org)
  • The thalassemias are a group of inherited disorders in which globin chain production is reduced or absent. (medscape.com)
Abnormal1
  • Abnormal versions of beta-globin can distort red blood cells into a sickle shape. (medlineplus.gov)
Descriptor1
  • beta-Globins" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (rush.edu)
Theta-beta1
  • Hay también un pseudogén de beta (theta-beta) en el grupo génico. (bvsalud.org)
Erythropoiesis1
  • In a model of beta thalassemia, luspatercept decreased abnormally elevated Smad2/3 signaling and improved hematology parameters associated with ineffective erythropoiesis. (medscape.com)
Variant1
  • The p.Ala736Val TMPRSS6 variant influences secondary hepatic iron accumulation in patients with NAFLD, and was negatively associated with hepaticIron accumulation independently of age, gender, HFE genotype, and beta-thalassemia trait. (semanticscholar.org)
Erythroid1
  • Which medications in the drug class Erythroid Maturation Agents are used in the treatment of Beta Thalassemia? (medscape.com)
Thalassemia intermedia2
  • This article will focus on beta thalassemia intermedia. (medscape.com)
  • Even without chronic transfusion, iron overload can develop in the presence of beta thalassemia intermedia consequent to increased iron absorption from the gut. (medscape.com)
Human4
  • The HBBP1 gene also has the most regulatory associations with active and open chromatin within the entire β-globin cluster and its transcripts are expressed in at least 251 different human cell and/or tissue types. (icr.org)
  • 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)
  • KpnI families of long, interspersed repetitive DNAs associated with the human beta-globin gene cluster. (nih.gov)
  • The primer mix amplified essentially all HPV types found in the genital tract along with the human β-globin gene. (cdc.gov)
Symptoms2
  • The signs and symptoms of methemoglobinemia, beta-globin type are generally limited to cyanosis, which does not cause any health problems. (medlineplus.gov)
  • Prompt evaluation for paraspinal extramedullary hematopoietic pseudotumors should conducted, via spinal magnetic resonance imaging (MRI), in patients with beta thalassemia in whom the symptoms and signs of spinal cord compression are present. (medscape.com)
Production1
  • Beta thalassemia occurs when similar gene defects affect production of the beta globin protein. (limamemorial.org)
Absence1
  • Samples were tested for the presence of amplifiable DNA and absence of inhibitors by performing beta globin PCR. (cdc.gov)
People3
  • This graph shows the total number of publications written about "beta-Globins" by people in this website by year, and whether "beta-Globins" was a major or minor topic of these publications. (rush.edu)
  • Below are the most recent publications written about "beta-Globins" by people in Profiles. (rush.edu)
  • About one 3rd autochthonal people of Sub- Saharan Africa bear this mutated Beta globin cistron. (freebooksummary.com)
Blood2
  • Methemoglobinemia, beta-globin type is a condition that affects the function of red blood cells. (medlineplus.gov)
  • Last, but not least, the third study offers a welcome new approach that could lighten the burden of a devastating blood disease, beta thalassemia. (hematology.org)
Type1
  • The incidence of methemoglobinemia, beta-globin type is unknown. (medlineplus.gov)