Chromosomes
Chromosome Mapping
Chromosome Banding
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
X Chromosome
Chromosome Aberrations
Sex Chromosomes
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
Chromosomes, Human, Pair 1
Chromosomes, Human
Chromosomes, Bacterial
Chromosomes, Human, Pair 7
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 17
Chromosomes, Human, Pair 6
Chromosomes, Human, Pair 9
Chromosomes, Human, Pair 21
Chromosomes, Plant
Chromosomes, Fungal
Chromosomes, Human, 6-12 and X
Chromosomes, Human, Pair 2
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 22
Chromosomes, Mammalian
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 4
Chromosomes, Human, Pair 10
Chromosomes, Human, Y
Chromosomes, Human, Pair 8
Chromosomes, Human, Pair 19
Chromosome Disorders
Chromosomes, Artificial, Bacterial
Chromosomes, Human, X
Chromosomes, Human, 1-3
Chromosomes, Human, Pair 12
Chromosome Painting
A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.
Chromosomes, Human, Pair 5
Chromosomes, Human, Pair 15
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 18
Chromosomes, Human, 16-18
In Situ Hybridization, Fluorescence
Chromosomes, Human, Pair 20
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.
Chromosomes, Human, 13-15
Genetic Linkage
Chromosome Breakage
Chromosomes, Human, 21-22 and Y
Chromosome Inversion
Genetic Markers
Chromosome Positioning
Chromosomes, Human, 4-5
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.
X Chromosome Inactivation
Centromere
Base Sequence
Translocation, Genetic
Meiosis
Hybrid Cells
Chromosomes, Human, 19-20
Aneuploidy
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
Metaphase
Mitosis
Recombination, Genetic
Lod Score
Pedigree
Crosses, Genetic
Mutation
Microsatellite Repeats
Phenotype
Alleles
Cloning, Molecular
Nondisjunction, Genetic
Chromosomes, Artificial, Human
Kinetochores
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)
Telomere
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).
Chromosome Walking
A technique with which an unknown region of a chromosome can be explored. It is generally used to isolate a locus of interest for which no probe is available but that is known to be linked to a gene which has been identified and cloned. A fragment containing a known gene is selected and used as a probe to identify other overlapping fragments which contain the same gene. The nucleotide sequences of these fragments can then be characterized. This process continues for the length of the chromosome.
Chromosomal Proteins, Non-Histone
Amino Acid Sequence
Chromosomal Instability
Spindle Apparatus
Blotting, Southern
Models, Genetic
Sequence Analysis, DNA
Chromosome Fragility
Genotype
Haplotypes
DNA, Satellite
Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.
DNA Probes
Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.
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.
Drosophila melanogaster
Genes
Repetitive Sequences, Nucleic Acid
Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).
Diploidy
Evolution, Molecular
Chromatids
Either of the two longitudinally adjacent threads formed when a eukaryotic chromosome replicates prior to mitosis. The chromatids are held together at the centromere. Sister chromatids are derived from the same chromosome. (Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Mosaicism
Heterozygote
Polytene Chromosomes
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)
Polyploidy
Gene Deletion
Prophase
Interphase
Gene Dosage
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
Loss of Heterozygosity
Cell Cycle Proteins
Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.
DNA-Binding Proteins
Genome, Human
Cytogenetic Analysis
Cytogenetics
Karyotype
Nuclear Proteins
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.
Cosmids
Chromosome Fragile Sites
Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)
Gene Rearrangement
Chromatin
Sex Chromosome Disorders
Monosomy
Plasmids
Spermatocytes
Sequence Tagged Sites
Short tracts of DNA sequence that are used as landmarks in GENOME mapping. In most instances, 200 to 500 base pairs of sequence define a Sequence Tagged Site (STS) that is operationally unique in the human genome (i.e., can be specifically detected by the polymerase chain reaction in the presence of all other genomic sequences). The overwhelming advantage of STSs over mapping landmarks defined in other ways is that the means of testing for the presence of a particular STS can be completely described as information in a database.
Polymorphism, Restriction Fragment Length
Genes, Dominant
Species Specificity
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
Saccharomyces cerevisiae
Polymorphism, Single Nucleotide
DNA Transposable Elements
Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.
Genetic Predisposition to Disease
Philadelphia Chromosome
An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE).
Azure Stains
Chromosomes, Archaeal
Sequence Homology, Nucleic Acid
Chromosome Breakpoints
Contig Mapping
Cell Nucleus
Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Genome
Haploidy
Sequence Homology, Amino Acid
Escherichia coli
A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.
Genetic Loci
Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.
DNA Primers
Sex Chromatin
Genomic Imprinting
Gene Duplication
Hybridization, Genetic
Gene Amplification
A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.
Drosophila
Genes, Lethal
Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.
Transcription, Genetic
Intellectual Disability
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Chromosomes, Artificial
Sister Chromatid Exchange
An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.
Pachytene Stage
Microtubules
Sequence Alignment
The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.
Exons
Histones
Euchromatin
Triticum
Genes, Tumor Suppressor
Aurora Kinases
A family of highly conserved serine-threonine kinases that are involved in the regulation of MITOSIS. They are involved in many aspects of cell division, including centrosome duplication, SPINDLE APPARATUS formation, chromosome alignment, attachment to the spindle, checkpoint activation, and CYTOKINESIS.
Down Syndrome
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
DNA, Complementary
Meiotic Prophase I
Quantitative Trait, Heritable
Radiation Hybrid Mapping
A method for ordering genetic loci along CHROMOSOMES. The method involves fusing irradiated donor cells with host cells from another species. Following cell fusion, fragments of DNA from the irradiated cells become integrated into the chromosomes of the host cells. Molecular probing of DNA obtained from the fused cells is used to determine if two or more genetic loci are located within the same fragment of donor cell DNA.
Gene Library
Genetic Heterogeneity
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
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.
Sex Chromosome Disorders of Sex Development
Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q. (1/181)
A severely mentally subnormal child with many physical stigmata was shown to have the karyotype 46,XY,-2,+der(2),t(2;10)(q31;q24)pat. Full evaluation of this patient's karyotype depended on the family studies. It was shown that a balanced translocation t(2,10) was present in 4 normal males in 3 generations. (+info)Gene dosage: evidence for assignment of erythrocyte acid phosphatase locus to chromosome 2. (2/181)
A child, trisomic for the distal short arm of chromosome 2 due to a familial 2/18 translocation, has elevated levels of activity of erythrocyte acid phosphatase [orthophosphoric-monoester phosphohydrolase (acid optimum), 3.1.3.2] Ferguson-Smith et al. [(1973) Nature New Biol. 243, 271-274] previously had found decreased levels of activity and loss of expression of an erythrocyte acid phosphatase allele in a subject who lacked one of the two homologous regions containing the distal three bands of chromosome 2. They suggested that the locus for erythrocyte acid phosphatase is located on that segment. Our findings provide further evidence for this assignment and also suggest an in vivo gene dosage effect of this autosomal locus, which depends on both the type and number of alleles present. (+info)Assignment of a locus required for flavoprotein-linked monooxygenase expression to human chromosome 2. (3/181)
Hybrid clones segregating human chromosomes were prepared by fusing mouse RAG cells to fresh human bone marrow cells and tested for the mixed-function oxygenase [flavoprotein-linked monooxygenase; RH, reduced-flavoprotein:oxygen oxidoreductase (RH-hydroxylating); EC 1.14.14.1] arylhydrocarbon hydrocarbon hydroxylase. Neither constitutive nor induced aryl hydrocarbon hydroxylase activity was detected in parental RAG cells. Induced aryl hydrocarbon hydroxylase was expressed in 4 out of 12 primary and 12 out of 19 secondary hybrid clones examined. Constitutive hydroxylase activity was detectable in 9 of the 15 inducible clones. All of the hybrid clones that exhibited constitutive hydroxylase activity were also inducible. There was a positive correlation between constitutive and induced hydroxylase activities although the absolute levels of the enzyme showed a wide range between different clones. Isozyme analysis performed on 12 primary and 19 secondary hybrid clones showed that aryl hydrocarbon hydroxylase activity was concordant with the expression of the human isozymes malate dehydrogenase (EC 1.1.1.37) and isocitrate dehydrogenase (EC 1.1.1.42), previously assigned to human chromosome 2. Isozyme markers for 19 other human chromosomes segregated independently from aryl hydrocarbon hydroxylase activity. The results suggest that the gene(s) required for aryl hydrocarbon hydroxylase activity are located on human chromosome 2. (+info)Loss of Rh antigen associated with acquired Rh antibodies and a chromosome translocation in a patient with myeloid metaplasia. (4/181)
Myeloid metaplasia is a clonal disease of the marrow pluripotent stem cell in which a constant cytogenetic abnormality could result in an altered antigenic characteristic of hematopoietic cells. A 57-yr-old man who had acquired myeloid metaplasia at age 37 was noted to be Rh negative, although blood typing at age 33 was Rh positive. His erythrocytes reacted with anti-c and anti-e, typical for an Rh negative individual. Analysis of 11 metaphase bone marrow cells by G-banding revealed 46 chromosomes with a consistent anomaly in 100% of cells involving chromosomes 1 and 13. The changes were consistent with a reciprocal translocation, with break points at approximately 1p32 and 13q22, although break points at 1p13 and 13q14 were also possible. Since previous cytogenetic data have localized the Rh gene to the short arm of chromosome 1, our data indicate the Rh gene lies within the segment u13 leads to 1p32. Serum of this patient had circulating anti-D and anti-C antibodies. Consequently, this patient lost immunologic tolerance to a "self antigen" after losing the ability to express this antigen. (+info)Fanconi's aplastic anaemia with short stature. Absence of response to human growth hormone. (5/181)
A patient with idiopathic marrow hypoplasia associated with short stature and other anomalies (Fanconi's anaemia) is described: treatment with human growth hormone for one year did not accelerate his growth rate or significantly affect his anaemia: androgen treatment considerably improved both features. Endocrine studies suggest that though he had poor and insufficient production of endogenous growth hormone to insulin-induced hypoglycaemia, the major defect in this syndrome is determined more at the end-organ than at the pituitary or gonadal level. (+info)Localization of human gene loci using spontaneous chromosome rearrangements in human-Chinese hamster somatic cell hybrids. (6/181)
Analysis of human-Chinese hamster somatic cell hybrids with spontaneously derived chromosome structural changes has provided data for the regional and subregional localization of gene loci which have previously been assigned to human chromosomes 2, 12, and X. Correlation of the expression of human gene loci with the human chromosome complements present in somatic cell hybrids indicates that the cytoplasmic malate dehydrogenase (MDH1) locus is in the 2p23yields2pter region, and red cell acid phosphatase (AcP1) is at or adjacent to 2p23. The cytoplasmic isocitrate dehydrogenase (IDH1) locus is at or adjacent to 2q11, peptidase B (Pep B) is at or adjacent to 12q21, lactate dehydrogenase B (LDH B) is in the 12q21yiedls12pter region, glucose-6-phosphate dehydrogenase (G6PD) is in the Xq24yieldsXqter region, and the gene loci for phosphoglycerate kinase (PGK), alpha-galactosidase (alpha-gal), and hypoxanthine guanine phosphoribosyltransferase (GPRT) are in the Xp21yieldsXq24 region. (+info)Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21). (7/181)
Close phenotypic similarity between two cases carrying a rec(3) dup q,inv(3) (p25q21), 12 additional infants from the same inv (3)(p25q21) kindred who lived less than 1 year, and eight cases studied in other medical centers has led us to postulate the existence of a distinct chromosome 3 duplication-deletion syndrome. In the presence of trisomy for (3)q21 leads to qter and monosomy for (3)p25 leads to pter, the facial dysmorphy is unique: a distorted head shape due to irregular cranial sutures, thick low eyebrows, long eyelashes, persistent lanugo, distended veins on the scalp, hypertelorism, oblique palpebral fissures, a very short nose with a broad depressed bridge and anteverted nares, protruding maxilla, thin upper lip, micrognathia, low-set ears, and a short webbed neck. Port-wine stains, congenital glaucoma, cloudy corneas, cleft palate and harelip also occur frequently. Each infant has difficulty sucking and swallowing. Congenital anomalies of the cardiovascular system, of midgut rotation, and of the urogenital system are noted for the infants who died neonatally. Most frequent is a ventricular septal defect, followed by atrial septal defect, patent ductus arteriosus, patent foramen ovale, and coarctation of the aorta. Omphalocele, umbilical hernia, hyperplastic kidneys, polycystic kidneys, double ureter, hydro-ureter, hydronephrosis, and undescended testes often occur. The extremities are short in proportion to the length of the trunk. Clinodactyly, coxa valga, talipes, and spina bifida are frequently observed. (+info)Spatial distribution of chromosomes 1 and Y in human spermatozoa. (8/181)
The positions of chromosomes 1 and Y inside human spermatozoa were determined by differential staining techniques. In 85/100 cells the two chromosomes were in close contact and in association with a vacuole. This observation is in contrast to previous findings for chromosome No. 9 and the Y-chromosome whose positions do not appear to be correlated. (+info)
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Human Transferrin Receptor peptide (ab101219) References
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Trafficking of the human transferrin receptor in plant cells: effects of tyrphostin A23 and brefeldin A
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PSPH
Sparkes RS, Mohandas T, Sparkes MC (1983). "The human phosphoserine phosphatase gene (PSP) is mapped to chromosome 7 by somatic ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome 7). ... Phosphoserine phosphatase is an enzyme that in humans is encoded by the PSPH gene. The protein encoded by this gene belongs to ... Koch GA, Eddy RL, Haley LL, Byers MG, McAvoy M, Shows TB (Apr 1983). "Assignment of the human phosphoserine phosphatase gene ( ...
ASAH1
Genes on human chromosome 8, All stub articles, Human chromosome 8 gene stubs). ... Human ASAH1 genome location and ASAH1 gene details page in the UCSC Genome Browser. Perry DK, Hannun YA (December 1998). "The ... Okino N, He X, Gatt S, Sandhoff K, Ito M, Schuchman EH (August 2003). "The reverse activity of human acid ceramidase". The ... Seelan RS, Qian C, Yokomizo A, Bostwick DG, Smith DI, Liu W (October 2000). "Human acid ceramidase is overexpressed but not ...
Eeva Therman
Her works include Human Chromosomes: Structure, Behavior, Effects, a textbook on cytogenetics which is in its 4th edition. Her ... Therman, Eeva (1980). Human Chromosomes: Structure, Behavior, Effects. New York: Springer-Verlag New York. doi:10.1007/978-1- ... two rare and usually fatal genetic disorders caused by an extra copy of chromosome 13 and 18, respectively. ... multiple congenital anomalies caused by an extra chromosome". The Journal of Pediatrics. 57 (3): 338-345. doi:10.1016/S0022- ...
Camel
2007). "Cross-species chromosome painting among camel, cattle, pig and human: further insights into the putative ... When humans first domesticated camels is disputed. Dromedaries may have first been domesticated by humans in Somalia or South ... The Y is a small metacentric chromosome, while the X is a large metacentric chromosome. The hybrid camel, a hybrid between ... A 2007 study flow sorted camel chromosomes, building on the fact that camels have 37 pairs of chromosomes (2n=74), and found ...
SARS (gene)
The human SARS gene is located on the plus strand of chromosome 1, from base pair 109,213,893 to base pair 109,238,182. Seryl- ... SARS belongs to the class II amino-acyl tRNA family and is found in all humans; its encoded enzyme, seryl-tRNA synthetase, is ... It was not until 1997 that human SARS and its enzyme product were isolated and expressed in Escherichia coli by a team from The ... Heckl M, Busch K, Gross HJ (May 1998). "Minimal tRNA(Ser) and tRNA(Sec) substrates for human seryl-tRNA synthetase: ...
SSX2IP
v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 1, All stub articles, ... "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome ... Afadin- and alpha-actinin-binding protein is a protein that in humans is encoded by the SSX2IP gene. It has been shown that it ... Nousiainen M, Silljé HH, Sauer G, Nigg EA, Körner R (April 2006). "Phosphoproteome analysis of the human mitotic spindle". ...
TBRG4
... is a protein that in humans is encoded by the TBRG4 gene on chromosome 7. This protein is part of the FASTKD family, which is ... UniProt: Q969Z0 Edwards MC, Liegeois N, Horecka J, DePinho RA, Sprague GF, Tyers M, Elledge SJ (Nov 1997). "Human CPR (cell ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Mouse PubMed ... "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain ...
APLP2
Human APLP2 genome location and APLP2 gene details page in the UCSC Genome Browser. (Genes on human chromosome 11). ... The human APLP2 gene is located on the long (q) arm of chromosome 11 at region 2 band 4, from base pair 130, 069, 821 to base ... Amyloid-like protein 2, also known as APLP2, is a protein that in humans is encoded by the APLP2 gene. APLP2 along with APLP1 ... Guénette SY, Chen J, Jondro PD, Tanzi RE (October 1996). "Association of a novel human FE65-like protein with the cytoplasmic ...
SMPD4
Genes on human chromosome 2). ... Jana A, Pahan K (Oct 2004). "Human immunodeficiency virus type ... "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome ... Sphingomyelin phosphodiesterase 4 is an enzyme that in humans is encoded by the SMPD4 gene. Model organisms have been used in ... Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (Feb 2000). "Prediction of the coding sequences of unidentified human ...
HIGD1A
... is a protein that in humans is encoded by the HIGD1A gene on chromosome 3. This protein promotes mitochondrial homeostasis and ... "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome ... "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Research. 14 ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Mouse PubMed ...
PRDX5
Peroxiredoxin-5 (PRDX5), mitochondrial is a protein that in humans is encoded by the PRDX5 gene, located on chromosome 11. This ... In human cells, it has been shown that PRDX5 can be localized to mitochondria, peroxisomes, the cytosol, and the nucleus. Human ... Overexpression of human PRDX5 has been shown to inhibit peroxide accumulation induced by TNF-alpha, PDGF, and p53 in NIH3T3 and ... In addition, expressing human PRDX5 in other organisms or tissues such as yeast, mouse brain, and Xenopus embryos also leads to ...
RRBP1
2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. Bibcode:2001Natur.414.. ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from ... 1998). "Identification of multiple forms of 180-kDa ribosome receptor in human cells". DNA Cell Biol. 17 (5): 449-60. doi: ...
RANBP1
Genes on human chromosome 22). ... "Mutations in the nuclear export signal of human ran-binding ... 2006). "Proteomics of human umbilical vein endothelial cells applied to etoposide-induced apoptosis". Proteomics. 5 (15): 3876- ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10- ...
KLC2
Genes on human chromosome 11). ... Kinesin light chain 2 is a protein that in humans is encoded by ... "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Mouse PubMed ... "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): ...
HLA-E
Genes on human chromosome 6). ... The human HLA-E is a non-classical MHC class I molecule that is ... HLA class I histocompatibility antigen, alpha chain E (HLA-E) also known as MHC class I antigen E is a protein that in humans ... Braud V, Jones EY, McMichael A (May 1997). "The human major histocompatibility complex class Ib molecule HLA-E binds signal ... "Human natural killer cells: their origin, receptors and function". European Journal of Immunology. 32 (5): 1205-11. doi:10.1002 ...
PIK3R1
Genes on human chromosome 5). ... "Human ltk receptor tyrosine kinase binds to PLC-gamma 1, PI3-K ... Crouin C, Arnaud M, Gesbert F, Camonis J, Bertoglio J (2001). "A yeast two-hybrid study of human p97/Gab2 interactions with its ... Zhang S, Broxmeyer HE (1999). "p85 subunit of PI3 kinase does not bind to human Flt3 receptor, but associates with SHP2, SHIP, ... "Chromosomal localization of human p85 alpha, a subunit of phosphatidylinositol 3-kinase, and its homologue p85 beta". Oncogene ...
GSTK1
... is an enzyme that in humans is encoded by the GSTK1 gene which is located on chromosome seven. It belongs to the superfamily of ... "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome ... As for the GSTK1 gene, it is ~5 kb long, has eight exons, is located on chromosome 7q34, and includes an initiator element at ... Li J, Xia Z, Ding J (Sep 2005). "Thioredoxin-like domain of human kappa class glutathione transferase reveals sequence homology ...
DPPA3
2004). "Human STELLAR, NANOG, and GDF3 genes are expressed in pluripotent cells and map to chromosome 12p13, a hotspot for ... In humans, related intronless loci are located on chromosomes 14 and X. GRCh38: Ensembl release 89: ENSG00000187569 - Ensembl, ... Bowles J, Teasdale RP, James K, Koopman P (2004). "Dppa3 is a marker of pluripotency and has a human homologue that is ... May 2017 "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Entrez ...
RAB3IP
v t e (Genes on human chromosome 12, All stub articles, Human chromosome 12 gene stubs). ... 2002). "The cancer-related protein SSX2 interacts with the human homologue of a Ras-like GTPase interactor, RAB3IP, and a novel ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... RAB3A-interacting protein is a protein that in humans is encoded by the RAB3IP gene. GRCh38: Ensembl release 89: ...
TAL1
"Involvement of the TCL5 gene on human chromosome 1 in T-cell leukemia and melanoma". Proc Natl Acad Sci U S A. 86 (13): 5039-43 ... Genes on human chromosome 1, Transcription factors, All stub articles, Human chromosome 1 gene stubs). ... TAL1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) FactorBook TAL1 v t e (Articles with ... translocation restricted to human T-cell acute leukemias disrupt the 5' part of the tal-1 gene". Oncogene. 6 (8): 1477-88. PMID ...
TENM3
Odz1 to Mouse Chromosome 11; and ODZ3 to Human Chromosome Xq25". Genomics. 58 (1): 102-3. doi:10.1006/geno.1999.5798. PMID ... Odz1to Mouse Chromosome 11; and ODZ3 to Human Chromosome Xq25". Genomics. 58 (1): 102-103. doi:10.1006/geno.1999.5798. PMID ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 4). ... Mutation in the TENM3/ODZ3 gene in humans has been associated with the eye condition, microphthalmia. Teneurin protein was ...
CAPZA2
... is located on human chromosome 7, position q31.2-q31.3. The primary sequence of CapZ-alpha2 contains three C-terminal, ... Human CAPZA2 genome location and CAPZA2 gene details page in the UCSC Genome Browser. Dawson SJ, White LA (May 1992). " ... F-actin-capping protein subunit alpha-2 also known as CapZ-alpha2 is a protein that in humans is encoded by the CAPZA2 gene. ... In humans undergoing exercise-induced muscle damage via 300 maximal eccentric contractions, skeletal muscle biopsies subjected ...
Fragile X syndrome
Lubs HA (May 1969). "A marker X chromosome". American Journal of Human Genetics. 21 (3): 231-244. PMC 1706424. PMID 5794013. de ... This methylation of FMR1 in chromosome band Xq27.3 is believed to result in constriction of the X chromosome which appears ' ... Most of these mRNA targets have been found to be located in the dendrites of neurons, and brain tissue from humans with FXS and ... "Monogenic diseases". Human Genomics in Global Health. World Health Organization. Archived from the original on 2012-10-20. ...
Apolipoprotein C-I
Genes on human chromosome 19, CS1: long volume value, Apolipoproteins, All stub articles, Human chromosome 19 gene stubs). ... "Isolation and characterisation of a cDNA clone for human apolipoprotein CI and assignment of the gene to chromosome 19". Human ... "The gene for human apolipoprotein CI is located 4.3 kilobases away from the apolipoprotein E gene on chromosome 19". Human ... January 1993). "Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and ...
RANGAP1
"The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID ... Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O (2001). "Prediction of the coding sequences of unidentified human genes. XX ... Bischoff FR, Krebber H, Kempf T, Hermes I, Ponstingl H (Apr 1995). "Human RanGTPase-activating protein RanGAP1 is a homologue ... Krebber H, Ponstingl H (1997). "Ubiquitous expression and testis-specific alternative polyadenylation of mRNA for the human Ran ...
Cyclin D1
The human CCND1 gene is located on the long arm of chromosome 11 (band 11q13). It is 13,388 base pairs long, and translates ... Fantl V, Smith R, Brookes S, Dickson C, Peters G (1993). "Chromosome 11q13 abnormalities in human breast cancer". Cancer ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome 11, CS1: long volume ... within the amplified chromosome 11q13 region in human carcinomas". Oncogene. 7 (2): 355-61. PMID 1532244. Seto M, Yamamoto K, ...
ASCC2
v t e (Genes on human chromosome 22, All stub articles, Human chromosome 22 gene stubs). ... "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID ... Sanger Centre, The; Washington University Genome Sequencing Cente, The (1998). "Toward a complete human genome sequence". ... Human ASCC2 genome location and ASCC2 gene details page in the UCSC Genome Browser. Overview of all the structural information ...
BCL2L13
... is a protein which in humans is encoded by the BCL2L13 gene on chromosome 22. This gene encodes a mitochondrially-localized ... a search for candidate genes at or near the human chromosome 22 pericentromere". Genome Research. 11 (6): 1053-70. doi:10.1101/ ... "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID ... Human BCL2L13 genome location and BCL2L13 gene details page in the UCSC Genome Browser. Dunham I, Shimizu N, Roe BA, Chissoe S ...
Paraxanthine
Weinstein, David; Mauer, Irving; Katz, Marion L.; Kazmer, Sonja (1975). "The effect of methylxanthines on chromosomes of human ... making it the primary metabolite of caffeine in humans. Paraxanthine is also a major metabolite of caffeine in humans and other ... Stavric, B. (1988-01-01). "Methylxanthines: Toxicity to humans. 3. Theobromine, paraxanthine and the combined effects of ... Orrú, Marco (2013). "Psychostimulant pharmacological profile of paraxanthine, the main metabolite of caffeine in humans". ...
STYXL1
v t e (Genes on human chromosome 7, All stub articles, Human chromosome 7 gene stubs). ... 2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157-64. Bibcode:2003Natur.424..157H. doi:10.1038/ ... 2005). "Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution". Science. 308 (5725): 1149-54. Bibcode:2005Sci ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
Structural genomics
Chromosome conformation capture. Organizations. *DNA Data Bank of Japan (JP). *European Molecular Biology Laboratory (EU) ... 2 (3 Suppl): S3-10. PMID 15130810.. *. Goulding CW, Perry LJ, Anderson D, et al. (September 2003). "Structural genomics of ... Human proteome project. *Call-map proteomics. *Structure-based drug design. *Expression proteomics ... Structural genomics seeks to describe the 3-dimensional structure of every protein encoded by a given genome. This genome-based ...
Sumer
Those who could afford it sought burial at Dilmun.[78] Human sacrifice was found in the death pits at the Ur royal cemetery ... a result that finds some support from Y chromosome analysis which shows that the Natufians and successor Levantine Neolithic ... The gods were said to have created human beings from clay for the purpose of serving them. The temples organized the mass ... Sumerians believed in an anthropomorphic polytheism, or the belief in many gods in human form. There was no common set of gods ...
Microcephaly
"American Journal of Human Genetics. 88 (5): 536-47. doi:10.1016/j.ajhg.2011.04.003. PMC 3146728. PMID 21529751.. ... Chromosomal (balanced rearrangements and ring chromosome). *Syndromes *Chromosomal *Poland syndrome[17]. *Down syndrome[18] ... "The Human Marvels. 16 October 2010. Archived from the original on 14 April 2016.. ... Microcephaly generally is due to the diminished size of the largest part of the human brain, the cerebral cortex, and the ...
Interleukin 6
... localization of the interferon-beta 2/B-cell stimulatory factor 2/hepatocyte stimulating factor gene to human chromosome 7p15- ... In humans, it is encoded by the IL6 gene.[5] In addition, osteoblasts secrete IL-6 to stimulate osteoclast formation. Smooth ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. ... Overview of all the structural information available in the PDB for UniProt: P05231 (Human Interleukin-6) at the PDBe-KB. ...
Holecistokininski receptor B
Song I, Brown DR, Wiltshire RN, et al. (1993). „The human gastrin/cholecystokinin type B receptor gene: alternative splice ... to chromosome 11p15.5→p15.4 by fluorescence in situ hybridization.". Cytogenet. Cell Genet. 65 (3): 184-5. DOI:10.1159/ ... Zimonjic DB, Popescu NC, Matsui T, et al. (1993). „Localization of the human cholecystokinin-B/gastrin receptor gene (CCKBR) ... Ito M, Matsui T, Taniguchi T, et al. (1993). „Functional characterization of a human brain cholecystokinin-B receptor. A ...
Slovenes
"The phylogenetic and geographic structure of Y-chromosome haplogroup R1a". European Journal of Human Genetics. 23 (1): 124-131 ... "Annals of Human Biology. 40 (6): 515-526. doi:10.3109/03014460.2013.813584. ISSN 1464-5033. PMID 23879710. S2CID 34621779.. ... A mass democratic movement, coordinated by the Committee for the Defense of Human Rights, pushed the Communists in the ... Retrieved 1 June 2018.. *^ "Table 15: Population by ethnic affiliation, age groups and sex, Slovenia, Census 2002". Census of ...
Protein-protein interaction
The Conserved Neighborhood method is based on the hypothesis that if genes encoding two proteins are neighbors on a chromosome ... Prediction databases include many PPIs that are predicted using several techniques (main article). Examples: Human Protein- ... 978-3-642-28916-3. . PMC 3676910. PMID 21809187.. *^ a b c d e f g h Berridge, M.J. (2012). "Cell Signalling Biology: Module 6 ... and humans.[44] In such studies, numerous mutations defective in the same gene were often isolated and mapped in a linear order ...
Species
UniProt employs an "organism mnemonic" of not more than five alphanumeric characters, e.g., HUMAN for H. sapiens.[115] ... sets of chromosomes) and allozymes (enzyme variants).[46] ... 3 Taxonomy and naming *3.1 Common and scientific names. *3.2 ... Conserving Biodiversity in Human-Dominated Landscapes. Washington: Island Press. pp. 150-163. Archived from the original on 7 ... 978-1-4088-3622-4. .. *^ Ray, John (1686). Historia plantarum generalis, Tome I, Libr. I. p. Chap. XX, page 40.. , quoted in ...
Laktaza - Vikipediya
"Regional localization of the lactase-phlorizin hydrolase gene, LCT, to chromosome 2q21". Annals of Human Genetics. 57 (Pt 3). ... "American Journal of Human Genetics. 74 (6). Jun 2004: 1111-20. doi:10.1086/421051. PMC 1182075. PMID 15114531.. ... "Molecular genetics of human lactase deficiencies". Annals of Medicine. 41 (8). 2009: 568-75. doi:10.1080/07853890903121033. ... "Biosynthesis and maturation of lactase-phlorizin hydrolase in the human small intestinal epithelial cells". The Biochemical ...
Polymorphism (biology)
Chromosome Botany, p. 36. London: Allen & Unwin. *^ Darlington, C.D.; Mather, K. 1949. The Elements of Genetics, pp. 335-336. ... Non-human apes have similar blood groups to humans; this strongly suggests that this kind of polymorphism is ancient, at least ... or if it is necessary for them to start on the same chromosome. Originally, it was held that chromosome rearrangement would ... However, many believe it more likely that the genes start on the same chromosome.[21] They argue that supergenes arose in situ ...
Phenylketonuria
"Journal of Human Genetics. 49 (1): 617-621. doi:10.1007/s10038-004-0197-5. PMID 15503242. S2CID 21446773.. ... The PAH gene is located on chromosome 12 in the bands 12q22-q24.2.[22] As of 2000, around 400 disease-causing mutations had ... Lewis R (1997). Human Genetics. Chicago, IL: Wm. C. Brown. pp. 247-248. ISBN 978-0-697-24030-9. .. ... The average number of new cases of PKU varies in different human populations. United States Caucasians are affected at a rate ...
Berbers
"Phylogeographic Refinement and Large Scale Genotyping of Human Y Chromosome Haplogroup E Provide New Insights into the ... "American Journal of Human Genetics. 74 (5): 1014-1022. doi:10.1086/386294. ISSN 0002-9297. PMC 1181964. PMID 15042509.. ... "American Journal of Human Genetics. 70 (6): 1594-1596. doi:10.1086/340669. ISSN 0002-9297. PMC 379148. PMID 11992266.. ... "American Journal of Human Genetics. 74 (5): 1023-1034. doi:10.1086/386295. ISSN 0002-9297. PMC 1181965. PMID 15069642.. ...
Hausa people
Jared Diamond, 'Guns, Germs, and Steel: The Fates of Human Societies' (1997) Chapter 19 ... "Y-Chromosome Variation Among Sudanese: Restricted Gene Flow, Concordance With Language, Geography, and History" Archived 2016- ... 1 of 5: Being a Journal of an Expedition Undertaken Under the Auspices of H. B. M. 'S Government, in the Years 1849 1855 ( ... 978-0-231-11568-1. .. *^ Awoyale, Yiwola; Planet Phrasebooks, Lonely (2007). Africa: Lonely Planet Phrasebook. Lonely Planet. p ...
GPR61
Gregory SG, Barlow KF, McLay KE i dr.. (2006). „The DNA sequence and biological annotation of human chromosome 1.". Nature 441 ... Lee DK, George SR, Cheng R, Nguyen T, Liu Y, Brown M, Lynch KR, O'Dowd BF (Feb 2001). „Identification of four novel human G ... Strausberg RL, Feingold EA, Grouse LH i dr.. (2003). „Generation and initial analysis of more than 15,000 full-length human and ... Takeda S, Kadowaki S, Haga T i dr.. (2002). „Identification of G protein-coupled receptor genes from the human genome sequence ...
Wales
Accordin tae paleontologists, Wales haes been indwellt bi modren humans for at least 29,000 year.[10] Conteenuous human ... "A major Y-chromosome haplogroup R1b Holocene effect in Central and Western Europe - see discussion results at end of article, ... "European Journal of Human Genetics. 19 (1): 95-101. doi:10.1038/ejhg.2010.146. PMC 3039512. PMID 20736979.. ... 0-86243-515-3. .. *↑ a b Powys, Betsan (12 Januar 2010). "The long Welsh walk to devolution". BBC News website. BBC. Retrieved ...
Гаплогруппа J-M205 - Википедия
"American Journal of Human Genetics. 101 (2): 274-282. DOI:10.1016/j.ajhg.2017.06.013. PMC 5544389. PMID 28757201.. Проверьте ... "Ancient Migratory Events in the Middle East: New Clues from the Y-Chromosome Variation of Modern Iranians". PLOS One. 7 (7): ... Иран (J2b1 M205) - 0,9 % (938)[1]. Этническая группа. Провинция. Процент (n) ... "Analysis of Genomic DNA from Medieval Plague Victims Suggests Long-Term Effect of Yersinia pestis on Human Immunity Genes" ...
মানুষ - উইকিপিডিয়া
Therman, Eeva (১৯৮০)। Human Chromosomes: Structure, Behavior, Effects। Springer US। পৃষ্ঠা 112-24। আইএসবিএন 978-1-4684-0109-7। ... "Human Anatomy"। Inner Body। সংগ্রহের তারিখ ৬ জানুয়ারি ২০১৩।. *↑ Parker-Pope, Tara (অক্টোবর ২৭, ২০০৯)। "The Human Body Is Built ... "The Science Behind the Human Genome Project"। Human Genome Project। US Department of Energy। ২ জানুয়ারি ২০১৩ তারিখে মূল থেকে ... "Genetic - Understanding Human Genetic Variation"। Human Genetic Variation। National Institute of Health (NIH)। ২৫ আগস্ট ২০১৩ ...
Descent from Genghis Khan
Batini, Chiara; Jobling, Mark (2017). "Detecting past male-mediated expansions using the Y chromosome". Human Genetics. 136 (5 ... "European Journal of Human Genetics. 26 (2): 230-237. doi:10.1038/s41431-017-0012-3. PMC 5839053. PMID 29358612.. ... "European Journal of Human Genetics. 26 (2): 230-237. doi:10.1038/s41431-017-0012-3. PMC 5839053. PMID 29358612.. ... "The American Journal of Human Genetics. 86 (5): 661-73. doi:10.1016/j.ajhg.2010.03.011. ISSN 0002-9297. PMC 2869013. PMID ...
Biological basis of love
Empathy allows humans to experience love and to build bonds. The moral that humans gain from empathy allow them to repair and ... Evolution of human music through sexual selection by G. F. Miller in N. L. Wallin, B. Merker, & S. Brown (Eds.), The origins of ... Retrieved 1 March 2021.. *^ a b c d e f Fisher HE, Aron A, Brown LL (December 2006). "Romantic love: a mammalian brain system ... The Mating Mind: How Sexual Choice Shaped the Evolution of Human Nature Archived 15 May 2007 at the Wayback Machine by Geoffrey ...
GPR63
Mungall AJ, Palmer SA, Sims SK, et al. (2003). „The DNA sequence and analysis of human chromosome 6". Nature 425 (6960): 805-11 ... Lee DK, George SR, Cheng R, et al. (2001). „Identification of four novel human G protein-coupled receptors expressed in the ... Strausberg RL, Feingold EA, Grouse LH, et al. (2003). „Generation and initial analysis of more than 15,000 full-length human ... Acetilholin (M1, M2, M3, M4, M5) • Dopamin (D1, D2, D3, D4, D5) • Histamin (H1, H2, H3, H4) • Melatonin (1A, 1B, 1C) • TAAR (1 ...
Angiotensin-converting enzyme 2
Genes on human chromosome X. *EC 3.4.17. *Single-pass transmembrane proteins ... Recombinant human ACE2[edit]. Recombinant human ACE2 (rhACE2) is surmised to be a novel therapy for acute lung injury, and ... "Inhibition of SARS-CoV-2 Infections in Engineered Human Tissues Using Clinical-Grade Soluble Human ACE2". Cell. 181 (4): 905- ... The expression profile of mACE2 in the human body was recently thoroughly evaluated by the Human Protein Atlas team using a ...
Estradiol
Chemicals Identified in Human Biological Media: A Data Base. Design and Development Branch, Survey and Analysis Division, ... Males with certain sex chromosome genetic conditions, such as Klinefelter's syndrome, will have a higher level of estradiol.[20 ... 978-1-119-20246-2. .. *^ a b c d e f g h i Lauritzen C, Studd JW (22 June 2005). Current Management of the Menopause. CRC Press ... Apart from humans and other mammals, estradiol is also found in most vertebrates and crustaceans, insects, fish, and other ...
Amyloid beta
"Human Molecular Genetics. 10 (16): 1665-71. doi:10.1093/hmg/10.16.1665. PMID 11487570.. ... The gene for the amyloid precursor protein is located on chromosome 21, and accordingly people with Down syndrome have a very ... To date, human testing has been avoided due to concern that it might interfere with signaling via Notch proteins and other cell ... Studies focusing on human breast cancer cell lines have further demonstrated that these cancerous cells display an increased ...
Transcription factor
"List Of All Transcription Factors In Human". biostars.org.. *^ Gill G (2001). "Regulation of the initiation of eukaryotic ... Transcription factors (like all proteins) are transcribed from a gene on a chromosome into RNA, and then the RNA is translated ... There are up to 1600 TFs in the human genome.[3] Transcription factors are members of the proteome as well as regulome. ... Semenza, Gregg L. (1999). Transcription factors and human disease. Oxford [Oxfordshire]: Oxford University Press. ISBN 978-0-19 ...
Factor estimulante de colonias de granulocitos, a enciclopedia libre
1987). "Human gene coding for granulocyte-colony stimulating factor is assigned to the q21-q22 region of chromosome 17". Somat ... 1987). "Expression of granulocyte colony-stimulating factor by human cell lines". J. Leukoc. Biol. 41 (4): 302-6. PMID 3494801. ... 1994). "Production of human granulocyte colony stimulating factor by various kinds of stromal cells in vitro detected by enzyme ... 1993). "Secondary structure of human granulocyte colony-stimulating factor derived from NMR spectroscopy". FEBS Lett. 314 (3): ...
Nervi - Viquipèdia, l'enciclopèdia lliure
Anatomy of the Human Body. Chap. IX: Neurology. 22th Edition (en anglès). Lea & Febiger, Philadelphia, 1918 [Consulta: 3 ... Ambros IM, Zellner A, Roald B, Amann G, et al «Role of ploidy, chromosome 1p, and Schwann cells in the maturation of ... Moore, Keith L. The Developing Human. Clinically Oriented Embryology. Chapter 18: The Nervous System (en anglès). Ed. W.B. ... GARD «Hypertrophic neuropathy of Dejerine-Sottas» (en anglès). NIH, US Department of Health & Human Services, 2020; Jul 1 (rev ...
Katu, entziklopedia askea.
1986 Aug). «Acute Pinesol Toxicity in a Domestic Cat» Veterinary and human toxicology PMID 3750813. (Noiz kontsultatua: 2020-05 ... 2002-03-01). «The genome phylogeny of domestic cat, red panda and five mustelid species revealed by comparative chromosome ... ISBN 1-4020-6143-9.. *↑ a b Wade, Nicholas. (2007ko ekainaren 29a). Study Traces Cat's Ancestry to Middle East. New York: New ... ISBN 84-486-0215-3.. *↑ (Ingelesez) Hales, Steven D.. (2008). What Philosophy Can Tell You about Your Cat. Open Court ...
Snake
Interactions with humans. Most common symptoms of any kind of snake bite envenomation.[109][110] Furthermore, there is vast ... Males ordinarily have a ZZ pair of sex-determining chromosomes, and females a ZW pair. However, the Colombian Rainbow boa ( ... 978-1-4027-3181-5. .. *^ a b c d e f g h i j k "Search results for Higher taxa: snake". reptile-database.org. Retrieved 7 March ... 978-1-56098-648-5. .. *^ a b c d e f g h i Black J, Green A (1992). Gods, Demons and Symbols of Ancient Mesopotamia: An ...
Syncope (medicine)
The lead genetic variant, residing at chromosome 2q31.1, is an intergenic variant approximately 250 kb downstream of the ... "Human brain evolution and the 'Neuroevolutionary Time-depth Principle:' Implications for the Reclassification of fear- ... 16 (4): 1-22, quiz 22-23. PMID 25105200.. *^ a b c d Ruwald, MH (August 2013). "Epidemiological studies on syncope - a register ... 1 associated with syncope and collapse". Cardiovascular Research. 116: 138-48. doi:10.1093/cvr/cvz106. PMC 6918066. PMID ...
Genome project
For a bacterium containing a single chromosome, a genome project will aim to map the sequence of that chromosome. For the human ... "Potential Benefits of Human Genome Project Research". Department of Energy, Human Genome Project Information. 2009-10-09. ... For humans, this will allow us to better understand aspects of human genetic diversity. ... "National Human Genome Research Institute (NHGRI). Retrieved 19 April 2018.. *^ Scott, Alison D; Zimin, Aleksey V; Puiu, Daniela ...
Chromosome 20: MedlinePlus Genetics
Chromosome 20 spans about 63 million DNA building blocks (base pairs) and represents approximately 2 percent of the total DNA ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 20, one copy inherited from ... Ring chromosome 20 syndrome is caused by a chromosomal abnormality known as a ring chromosome 20 or r(20). A ring chromosome is ... Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Genet Test. 1997-1998;1(3):225-9. doi: 10.1089/gte. ...
Category:Human chromosome 1 - Wikimedia Commons
Media in category "Human chromosome 1". The following 50 files are in this category, out of 50 total. ... Human chromosome 01 with ASD genes from IJMS-16-06464.png 644 × 2,828; 582 KB. ... Human chromosome 01 from Gene Gateway - with label.png 1,301 × 2,340; 403 KB. ... 24-Color 3D FISH Representation and Classification of Chromosomes in a Human G0 Fibroblast Nucleus 10.1371 journal.pbio.0030157 ...
![CPXCR1 CPX chromosome region candidate 1 [Homo sapiens (human)] - Gene - NCBI](data:image/png;base64,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)
CPXCR1 CPX chromosome region candidate 1 [Homo sapiens (human)] - Gene - NCBI
CPX chromosome region candidate 1provided by HGNC. Primary source. HGNC:HGNC:2332 See related. Ensembl:ENSG00000147183 MIM: ... CPXCR1 CPX chromosome region candidate 1 [ Homo sapiens (human) ] Gene ID: 53336, updated on 9-Sep-2022 ... Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl ... This gene is one of several genes identified in a region of the X chromosome associated with an X-linked cleft palate (CPX) ...
Transcriptional Maps of 10 Human Chromosomes at 5-Nucleotide Resolution | Semantic Scholar
Sites of transcription of polyadenylated and nonpolyadenylated RNAs for 10 human chromosomes were mapped at 5-base pair ... Overall, the transcribed portions of the human genome are predominantly composed of interlaced networks of both poly A+ and ... Unannotated, nonpolyadenylated transcripts comprise the major proportion of the transcriptional output of the human genome. Of ... The transcribed portions of the human genome are predominantly composed of interlaced networks of both poly A+ and poly A- ...
Advanced Search Results - Public Health Image Library(PHIL)
RTECS:UB4375000 - 1-Propanol, 2,3-epoxy- - The Registry of Toxic Effects of Chemical Substances | CDC/NIOSH
Cancer Review:Human No Adequate Data. IMEMDT 77,564,2000. International Agency for Research on Cancer (IARC). Cancer Review: ... sex chromosome loss and nondisjunction. oral/Drosophila melanogaster. 3690 ppm. NTPTR* NTP-TR-374,1990. ... In Vitro/Human, kidney Inhibitor Concentration Low: 60 mg/L/24H. In Vitro Toxicity Studies: Cell viability (mitochondrial ... Cancer Review:Human Inadequate Evidence. IMEMDT 77,564,2000. International Agency for Research on Cancer (IARC). ...
Human immune interferon gene is located on chromosome 12. | Journal of Experimental Medicine | Rockefeller University Press
... was used to chromosomally map the IFN-gamma gene by detecting human IFN-gamma ... A cDNA clone for human immune interferon (IFN-gamma) gene sequences, plasmid p69, ... We were able to map the IFN-gamma gene by correlating the human chromosomes present in these hybrids with the human specific ... Human immune interferon gene is located on chromosome 12. S L Naylor, S L Naylor ...
Rp1 MGI Mouse Gene Detail - MGI:1341105 - retinitis pigmentosa 1 (human)
Human Disease Modeled: retinitis pigmentosa 1. Allelic Composition. Genetic Background. Reference. Phenotypes. ... Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse ... Rp1 interacts with 250 markers (Mir1b, Mir7-1, Mir7-2, ...) View All ...
Table 1 - Staphylococcal Cassette Chromosome mec in MRSA, Taiwan - Volume 13, Number 3-March 2007 - Emerging Infectious...
Department of Health and Human Services, the Public Health Service, the Centers for Disease Control and Prevention, or the ... Staphylococcal Cassette Chromosome mec in MRSA, Taiwan Jann-Tay Wang*, Chi-Tai Fang*, Yee-Chun Chen*, Chia-Ling Wu*, Mei-Ling ... A (1), C (10), K (6),L (3), M (5), other (1). Sp (14), Wo (12). ICU (12), ward (14). ... Table 1. Pulsotypes, characteristics, and sources of 190 methicillin-resistant Staphylococcus aureus (MRSA) isolates, Taiwan, ...
WHO EMRO | Chromosomal aberrations in children with suspected genetic disorders | Volume 3, issue 1 | EMHJ volume 3, 1997
... pericentric inversion of chromosome 9 (2; 1.5%), marker chromosome (2; 1.5%) and sex chromosome aberrations (4; 2.9%). All of ... et aberrations des chromosomes sexuels (4; 2,9%). Tous présentaient une hétérogénéité phénotypique et cytogénétique. ... A total of 53 (38.7%) had an abnormal karyotype: trisomy 21 (36; 26.3%), trisomy 18 (3; 2.2%), trisomy 13 (1; 0.7%), partial ... Au total, 53 enfants avaient un cariotype anormal: trisomie 21 (36; 26,3%), trisomie 18 (3; 2,2%), trisomie 13 (1; 0,7%), hétà ...
Protein S Deficiency Treatment & Management: Medical Care, Diet and Activity, Prevention
The gene for protein S maps near the centromere of human chromosome 3. Blood. 1988 Jan. 71(1):238-41. [QxMD MEDLINE Link]. ... Organization of the human protein S genes. Biochemistry. 1990 Aug 28. 29(34):7845-52. [QxMD MEDLINE Link]. ... Intron-exon organization of the active human protein S gene PS alpha and its pseudogene PS beta: duplication and silencing ... Warfarin administration can start on day 1 or 2 of heparin therapy. After two consecutive clotting tests showing a therapeutic ...
River Valley PRC - Understanding Pregnancy
The baby has 23 chromosomes each from the mother and father, but is a separate, unique human being. ... 3-6 weeks: The heart is beating. Blood flows in the babys veins. The baby has his/her own blood type, separate from the ... Day 1: Conception can occur as early as 15 minutes after having intercourse or even up to 3 days afterward. The babys features ...
Human Metabolome Database: Showing Protein 3-oxo-5-alpha-steroid 4-dehydrogenase 1 (HMDBP00699)
... homologous sequences on human chromosomes 6 and 8. Pflugers Arch. 2001;442(6 Suppl 1):R187-9. [PubMed:11678334 ] ... Andersson S, Russell DW: Structural and biochemical properties of cloned and expressed human and rat steroid 5 alpha-reductases ... Please upgrade your browser to a newer version to get the best experience on Human Metabolome Database. ... Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. Proc Natl Acad Sci U S ...
Cassiopaea » Articles » The Wave Chapter 26: The Tree of Life
When we look at the human Tree of Life, which is the mirror image, we see that the position of knowledge is now held by the ... Sounds like cosmic chromosomes! It is through our genetics that we have the potential of aligning with the central vertical ... As our body while consisting of human members is yet held together by one soul, so the universe is to be thought of as an ... Q: (L) So, in the case of the objectivity of an atom, if the human observers are not objective, where is the observer who makes ...
NIOSHTIC-2 Search Results - Full View
... whole chromosome gain or loss). Immortalized human lung epithelial cells, BEAS-2B, were exposed to all MW for 24 hours. ... However, this preliminary evaluation indicates that human lung epithelial cells exposed to AP-MW and their coated counterparts ... Pancentromere staining determined whether the DNA damage is clastogenic (chromosome breakage) or aneugenic ( ... 3) and their coated counterparts (PC-MW 1 & 2 and AL-MW 3) to determine the effect of coating. Genotoxicity was measured via ...
Investigations into the Relative Biological Effectiveness of high-energy photon radiation - PTB.de
... simulations describe the dependence of the Relative Biological Effectiveness of photon radiation with energies smaller than 1 ... The effect of 29 kV X rays on the dose response of chromosome aberrations in human lymphocytes.. Radiat. Res. 158 (2002), 771- ... The effect of 220 kV X-rays with different spectra on the dose response of chromosome abberrations in human lymphocytes.. ... The maximum low-dose RBE of 17.4 and 40 keV monochromatic X rays for the induction of dicentric chromosomes in human peripheral ...
Fructose 1,6-Diphosphatase Deficiency: Background, Pathophysiology, Epidemiology
Because most of an organisms life is spent in a fasting state (ie, between meals), no fewer than 3 major mechanisms have ... Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and ... Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham ... Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human ...
Birth Defects in Children | University Hospitals
Chromosome problems. Chromosomes are stick-like structures in the center (nucleus) of each cell. Chromosomes contain your genes ... Human chorionic gonadotropin (hCG). This is a hormone released by some cells in the placenta. High hCG levels may mean that the ... Chromosome problems such as Down syndrome can be diagnosed before birth by looking at cells in the amniotic fluid or from the ... Changes in chromosomes can cause health problems. * Multifactorial inheritance. This means that many things are involved in ...
hemangioendotheliomas - Humpath.com - Human pathology
WI-38 VA-13 subline 2RA - CCL-75.1 | ATCC
It is not intended for any animal or human therapeutic use, any human or animal consumption, or any diagnostic use. Warranty. ... It is not intended for any animal or human therapeutic use, any human or animal consumption, or any diagnostic use. Any ... SV40 transformation of human diploid cells. A parallel study of viral and karyologic parameters. Ann. Med. Exp. Biol. Fenn. 44 ... Autologous and homologous implantation of human cells transformed in vitro by simian virus 40. J. Natl. Cancer Inst. 32: 917- ...
Plasmodium falciparum - Wellcome Sanger Institute
Genome sequence of the human malaria parasite Plasmodium falciparum.. Gardner MJ, Hall N, Fung E, White O, Berriman M, Hyman RW ... Sequence of Plasmodium falciparum chromosomes 1, 3-9 and 13.. Hall N, Pain A, Berriman M, Churcher C, Harris B, Harris D, ... The complete nucleotide sequence of chromosome 3 of Plasmodium falciparum.. Bowman S, Lawson D, Basham D, Brown D, ... Plasmodium falciparum is the deadliest of five human malaria species and responsible for the majority of malaria related deaths ...
Immune Regulation and Antitumor Effect of TIM-1
TIM-1 can regulate and enhance type 1 immune response of tumor association. Therefore, TIM-1 costimulatory pathways may be a ... This review describes the immune regulation and antitumor effect of TIM-1. ... and the T cell immunoglobulin domain and the mucin domain protein-1 (TIM-1) on its surface, as a costimulatory molecule, has a ... located in the human chromosome 5q33.2 region. In mouse, the TIM family consists of eight members (TIMs 1-8) located in the ...
CA 51083/CA/NCI NIH HHS/United States[Grant Number] - Search Results - PubMed
Cloning of cDNAs encoding the human BAG1 protein and localization of the human BAG1 gene to chromosome 9p12. Takayama S, Kochel ... The BAX gene maps to the glioma candidate region at 19q13.3, but is not altered in human gliomas. Chou D, Miyashita T, ... Structure of the human receptor tyrosine phosphatase gamma gene (PTPRG) and relation to the familial RCC t(3;8) chromosome ... Cervical dysplasia, ploidy, and human papillomavirus status correlate with loss of Fhit expression. Vecchione A, Zanesi N, ...
A genetic map of human chromosome 11p<...
Buetow, K. H., Chakravarti, A., & Cole, S. A. (1986). A genetic map of human chromosome 11p. Genetic Epidemiology, 3(1 S), 135- ... Buetow, KH, Chakravarti, A & Cole, SA 1986, A genetic map of human chromosome 11p, Genetic Epidemiology, vol. 3, no. 1 S, pp ... Buetow, Kenneth H. ; Chakravarti, Aravinda ; Cole, Shelley A. / A genetic map of human chromosome 11p. In: Genetic Epidemiology ... title = "A genetic map of human chromosome 11p",. author = "Buetow, {Kenneth H.} and Aravinda Chakravarti and Cole, {Shelley A ...
Are Toxic Chemicals Turning Boys Into Girls? | One Radio Network
The answer is anything that affects the human hormones these sex chromosomes command. ... But how can a chemical change the sexual future of a human being? The answer lies in the fact that human sexual development ... If, however, the baby is genetically male, with both an X and a Y chromosome, and all goes as planned, around day 51 the Y, or ... Human male births have always held a marginal advantage, probably Natures way of insuring that enough of the somewhat more ...
Prognostic relevance of Wnt-inhibitory factor-1 (WIF1) and Dickkopf-3 (DKK3) promoter methylation in human breast cancer | BMC...
Although the Wnt antagonist genes WIF1 and DKK3 show a very similar frequency of promoter methylation in human breast cancer, ... In normal breast tissues, WIF1 methylation was present in 0% (0/19) and DKK3 methylation in 5.3% (1/19) of samples. In breast ... Secreted Wnt signaling antagonists have recently been described as frequent targets of epigenetic inactivation in human tumor ... Takai D, Jones PA: Comprehensive analysis of CpG islands in human chromosomes 21 and 22. Proc Natl Acad Sci USA. 2002, 99: 3740 ...
Chromosome 15 (human)
... human) Chromosome 15 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome ... Chromosome 15 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 15". Genet Test 3 (3): 309-22. ... It uses material from the Wikipedia article "Chromosome_15_(human)". A list of authors is available in Wikipedia. ...
What Is Hemophilia? | Wonderopolis
aMale humans have an X and a Y chromosome, while female have two X chromosomes. Not Quite! ... You may already know that male humans have an X and a Y chromosome. Those who are female have two X chromosomes. For this ... In a person with hemophilia, an issue with genes on the X chromosome can result in a lack of _____________.. * aimmune system ... In the case of hemophilia, the affected genes are part of the X chromosome. An issue with these genes results in a lack of ...
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP - NASA/ADS
... chromosome 16pl3.3 (refs 4-8). Here we report that all these breakpoints are restricted to a region that contains the gene for ... the human CREB binding protein (CBP), a nuclear protein participating as a co-activator in cyclic-A IMP-regulated gene ... expression,SUP,9-12,/SUP,. We show that RTS results not only from gross chromosomal rearrangements of chromosome 16p, but also ... 1-3,/SUP,. Many patients with RTS have been shown to have breakpoints in, and microdeletions of, ...
GenomeAbnormalitiesAberrationsProteinLocusSegregationPathwayStructuresGene to chromosome1995Region of chromosomeGenomicCells2022LymphocytesDisordersProteinsWhole chromosomeOrganismsDeletions2016Genetics2018DifferentiationSister chromatidsCytogenetic AnalysisAberrationMetacentricPairsSperm2017SpindleDrosophilaSequencesCellDiseasesAutosomalRegulatesSyndromeCircularInversionsRecombinationPairHomologGenetLarge numbers of genesAbnormalNucleusContributesOccursMaleEpigeneticBiological
Genome25
- Unannotated, nonpolyadenylated transcripts comprise the major proportion of the transcriptional output of the human genome. (semanticscholar.org)
- The nuclear genome was described as 22.9 Mb and essentially complete, with 14 chromosomes, a G+C content of approximately 19%, 5268 genes and approximately 80 gaps. (sanger.ac.uk)
- Genome sequence of the human malaria parasite Plasmodium falciparum. (sanger.ac.uk)
- Permission of the principal investigator should be obtained before publishing analyses of the sequence/open reading frames/genes on a chromosome or genome scale. (sanger.ac.uk)
- Significant advances have been made over the past 5 years in mapping and characterizing structural variation in the human genome. (biomedcentral.com)
- With the advent of paired-end sequencing approaches, it is now possible to map inversions across the human genome. (biomedcentral.com)
- Based on the paired-end sequencing studies published to date, it is now feasible to make a first map of inversions across the human genome and to use this map to explore the characteristics and distribution of this form of variation. (biomedcentral.com)
- Further characterization of inversions should be considered as an important step towards a deeper understanding of human variation and genome dynamics. (biomedcentral.com)
- Over the past 5 years there has been a major drive in genomic research to identify submicroscopic structural variation in the human genome, ranging from a few hundred base pairs to approximately five megabases (Mb) in size. (biomedcentral.com)
- Therefore, despite the great success in developing human genome maps of deletions and duplications, the mapping of inversions has lagged behind. (biomedcentral.com)
- It is still not clear how many common inversions exist in the human genome, what the size distribution of inversions variants is, and to what extent inversions are associated with human disorders. (biomedcentral.com)
- As a consequence, our understanding of the extent of inversion variants in the human genome has increased dramatically in the past few years. (biomedcentral.com)
- This review will give an overview of the current knowledge of inversions in the human genome, the methods used to discover and type inversions, and their role in human disease and human genome architecture. (biomedcentral.com)
- Subsequent retrotransposition events amplified these sequences, resulting in approximately 8% of the human genome being composed of HERV sequences today. (frontiersin.org)
- Up to 8% of the human genome are of retroviral origin. (frontiersin.org)
- This fundamental hypothesis gives a new dimension to inheritance of chromosomes and sex determination against the backdrop of worldwide research on the human genome. (deaconbill.com)
- Compared with the case of the classical HLA class I loci, which are the most polymorphic loci in the human genome, limited HLA-G variability has been observed around the world ( 9 ). (spandidos-publications.com)
- There are, after all, some 3 billion "base pairs," or letters, in the human genome -- the sum total of the genetic material in the chromosomes of an average person. (mit.edu)
- Role of repair gene polymorphism in estimating the sensitivity of human genome to radon in concentrations exceeding maximum permissible level]. (cdc.gov)
- Genome-wide approaches to epidermal function include short interfering RNA-based genetic screens in cultured human epidermal cells 8 and RNA interference-mediated gene knockdown via in utero microinjection of lentiviral vectors 9 . (nature.com)
- At the beginning of this series, we observed that many of the topics covered in Adam and the Genome are not relevant to whether Adam and Eve existed as the progenitors of the human race. (evolutionnews.org)
- For more details, please see " Adam and the Genome and Human-Ape Genetic Similarity . (evolutionnews.org)
- For more details, please see " Adam and the Genome and Human Genetic Diversity ," " Adam and the Genome and Citation Bluffing ," and " Adam and the Genome and 'Predetermined Conclusions' . (evolutionnews.org)
- The Plant Genome 9(3): 10.3835/plantgenome2016.05.0047. (gmwatch.org)
- As a result of the rapid advances in genetics technology and the Human Genome Project, most of the estimated 100,000 genes in humans will be identified by the year 2005 (1). (cdc.gov)
Abnormalities8
- These chromosome abnormalities are somatic, which means they are acquired during a person's lifetime and are present only in certain cells. (medlineplus.gov)
- Deletions or duplications of genetic material from chromosome 20 can have a variety of effects, including intellectual disability, delayed development, distinctive facial features, skeletal abnormalities, and heart defects. (medlineplus.gov)
- The frequency of various chromosomal abnormalities is quite different in neonates (0.7%) as compared to abortuses (about 50%), since some aneuploidies are lethal in utero [3]. (who.int)
- THE Rubinstein-Taybi syndrome (RTS) is a well-defined syndrome with facial abnormalities, broad thumbs, broad big toes and mental retardation as the main clinical features 1-3 . (harvard.edu)
- Of the 50 mutants with an epidermal phenotype, 9 map to human genetic conditions with skin abnormalities. (nature.com)
- AIMS: To detect the frequency and types of both chromosomal abnormalities and Y chromosome microdeletions in infertile men attending to our university intracytoplasmic sperm injection ICSI/IVF centre and fertile control subjects in our patient population. (who.int)
- RESULTS: The total prevalence of chromosomal abnormalities was found to be 10% (5/50), including 4 patients with numerical and 1 patient with structural abnormalities. (who.int)
- 1. Some genetic abnormalities, their genotypes and features are distributed in columns A, B and C respectively. (bankofbiology.com)
Aberrations1
- Methods for the analysis of human chromosome aberrations. (who.int)
Protein20
- Three potentially functional classes of RNAs have been identified, two of which are syntenically conserved and correlate with the expression state of protein-coding genes and support a highly interleaved organization of the human transcriptome. (semanticscholar.org)
- Certainly, Western blot evaluation demonstrates protein induction for the novel genes GRIN2C, PTCDH4 and RINL (Figure 1-figure supplement 1F). (hivinhibitor.com)
- T cells play an important role in antitumor immunity, and the T cell immunoglobulin domain and the mucin domain protein-1 (TIM-1) on its surface, as a costimulatory molecule, has a strong regulatory effect on T cells. (hindawi.com)
- Like other TIM members, TIM-1 is similar in structure to the type 1 membrane protein, which consists of an N-terminal Cys-rich immunoglobulin variable- (IgV-) like domain, a mucin-like domain, a transmembrane domain, and an intracellular tail [ 11 , 12 ]. (hindawi.com)
- Cloning of cDNAs encoding the human BAG1 protein and localization of the human BAG1 gene to chromosome 9p12. (nih.gov)
- Here we report that all these breakpoints are restricted to a region that contains the gene for the human CREB binding protein (CBP), a nuclear protein participating as a co-activator in cyclic-A IMP-regulated gene expression 9-12 . (harvard.edu)
- Rodent and human beta 3-adrenergic receptor genes contain an intron within the protein-coding block. (wikipedia.org)
- An antibody ( Ab ), also known as an immunoglobulin ( Ig ), [1] is a large, Y-shaped protein used by the immune system to identify and neutralize foreign objects such as pathogenic bacteria and viruses . (wikipedia.org)
- The most relevant proteins involved in the mitochondrial fusion process are three GTPase dynamin-like proteins: mitofusin 1 (MFN1) and 2 (MFN2), located in the outer mitochondrial membrane, and optic atrophy protein 1 (OPA1), in the inner membrane. (centrodinoferrari.com)
- Dynamin-related protein 1 (DRP1), a cytosolic dynamin-related GTPase, plays a central role in fission by promoting mitochondrial division through its oligomerization into multimeric spiral structures [5]. (centrodinoferrari.com)
- Fujimoto T, Hata J, Yokoyama S, Mitomi T. A study of the extracellular matrix protein as the migration pathway of neural crest cells in the gut: analysis in human embryos with special reference to the pathogenesis of Hirschsprung's disease. (medscape.com)
- Detection and identification of MRSA by culture and nucleic acid-based methods is challenged by heterogeneous penicillin-binding protein 2a (PBP2a) expression and variability of the staphylococcal cassette chromosome (SCC mec ) elements. (cdc.gov)
- This protein has the identical amino acid coding (sequence) found in Human DNA-Chromosome 8. (ethealing.com)
- All "Vaccine" Injections contain the spiked protein which has the same sequencing (coding) as Chromosome 8, VMAT2. (ethealing.com)
- Analysis of protein-coding genetic variation in 60,706 humans. (nsmalondon.com)
- Caveolin-1 is the principal structural protein of caveolae membranes in most cell types and acts as a scaffolding protein within caveolar membranes. (sputnic-group.ru)
- A soluble multimeric recombinant CD2 protein identifies CD48 as a low affinity ligand for human CD2: divergence of CD2 ligands during the evolution of humans and mice. (hcdm.org)
- 12]. MicroRNAs (miRNAs, miRs) are brief, non-coding RNAs that work as detrimental regulators of appearance of protein-encoding genes by annealing to complementary sequences in 3 untranslated locations (3UTRs) of mRNAs and inhibiting additional steps of proteins synthesis [13]. (euromed2016.com)
- The PFTAIRE-2 subfamily is part of a larger superfamily that includes the catalytic domains of other protein STKs, protein tyrosine kinases, RIO kinases, aminoglycoside phosphotransferase, choline kinase, and phosphoinositide 3-kinase. (umbc.edu)
- TRAIL and proteasome inhibitors combination induces a robust apoptosis in human malignant pleural mesothelioma cells through Mcl-1 and Akt protein cleavages. (cdc.gov)
Locus5
- Smoking dysregulates the human airway basal cell transcriptome at COPD risk locus 19q13.2. (ouhsc.edu)
- Analysis of positional candidate genes in the AAA1 susceptibility locus for abdominal aortic aneurysms on chromosome 19. (ouhsc.edu)
- 2013), a human cell gene mutation assay in the TK locus (Budinsky et al. (europa.eu)
- A human cell gene mutation assay in the HPRT locus is also available, although experimental methodology is limited (Budinsky et al. (europa.eu)
- The locus D21S82 is very closely linked to the locus SOD1 on chromosome 21. (atcc.org)
Segregation3
- Fission also regulates apoptosis through segregation of the most critically injured mitochondria [1, 4]. (centrodinoferrari.com)
- Age-related accumulation of ploidy changes is associated with decreased expression of genes controlling chromosome segregation and cohesin functions. (nature.com)
- We further show that male sterility in ssp3 null mutants is due to failure in both chromosome segregation and cytokinesis. (bgu.ac.il)
Pathway5
- 2007). Having said that, GRO-seq demonstrates that a 1 hr time point of Nutlin treatment induces transcription of genes in each important pathway downstream of p53 (Supplementary file 1). (hivinhibitor.com)
- Altogether, this provides strong evidence for an epigenetically disrupted and thereby activated Wnt signaling pathway in the development of human breast cancer. (biomedcentral.com)
- Alternative lengthening of telomeres (ALT) cancers achieve immortality by reelongating their telomeres in the G2 and M phases of the cell cycle through a specialized break-induced replication (BIR) pathway (1, 2). (hilfenetzwerk-cic.de)
- Caveolin-1 links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway. (sputnic-group.ru)
- The most frequent mutation inside the pathway may be the BRAF V600E, taking place in around 44C60% of PTC tumors [2,3]. (euromed2016.com)
Structures4
- Chromosomes are stick-like structures in the center (nucleus) of each cell. (uhhospitals.org)
- [2] [3] Each tip of the "Y" of an antibody contains a paratope (analogous to a lock) that is specific for one particular epitope (analogous to a key) on an antigen, allowing these two structures to bind together with precision. (wikipedia.org)
- Telomeres are small structures that protect the ends of your chromosomes. (hilfenetzwerk-cic.de)
- Such structures are a result of chromosome fragments or entire acentric chromosomes which are lost during a cell division. (bvsalud.org)
Gene to chromosome1
- 2001) mapped the IL1HY2 gene to chromosome 2q14, close to other IL1 family members. (jetaninchina.com)
19951
- 1995 Jun;1(6):570-577. (elsevier.com)
Region of chromosome2
- In mouse, the TIM family consists of eight members (TIMs 1-8) located in the 11B1.1 region of chromosome. (hindawi.com)
- This chromosomal change deletes the region of chromosome 15 that includes the UBE3A gene. (bionity.com)
Genomic4
- We were able to map the IFN-gamma gene by correlating the human chromosomes present in these hybrids with the human specific 8.8 and 2.0 kilobase pair fragments produced by EcoRI digestion of genomic DNA. (rupress.org)
- 80 years) veteran controls were collected and evaluated for radiation-induced chromosome damage utilizing directional genomic hybridization (dGH), a cytogenomics-based methodology that facilitates simultaneous detection of translocations and inversions. (allenpress.com)
- A polymorphic dinucleotide (GT) repeat sequence was isolated from a genomic clone containing the human H-cadherin (CDH13) gene at 16q24.1-q24.2. (elsevier.com)
- The large amount of genetic information accumulated in the post-genomic era needs to be transformed into knowledge 1 . (nature.com)
Cells52
- Chromosome 20 spans about 63 million DNA building blocks (base pairs) and represents approximately 2 percent of the total DNA in cells. (medlineplus.gov)
- People with ring chromosome 20 syndrome have one copy of this abnormal chromosome in some or all of their cells. (medlineplus.gov)
- Studies suggest that some genes on the long arm of the chromosome may play critical roles in controlling the growth and division of cells. (medlineplus.gov)
- Usually the total chromosome count was determined in 10-15 cells, but if mosaicism was suspected then 30 or more cell counts were undertaken [10]. (who.int)
- Immortalized human lung epithelial cells, BEAS-2B, were exposed to all MW for 24 hours. (cdc.gov)
- However, this preliminary evaluation indicates that human lung epithelial cells exposed to AP-MW and their coated counterparts produces a genotoxic response. (cdc.gov)
- Chromosome problems such as Down syndrome can be diagnosed before birth by looking at cells in the amniotic fluid or from the placenta. (uhhospitals.org)
- TIM-1, a key member and costimulatory molecule in the T cell immunoglobulin mucin (TIM) family, is expressed on the surface of T cells. (hindawi.com)
- Our preliminary studies have shown that TIM-1 may be a novel candidate tumor therapeutic costimulatory molecule, because it may directly enhance the functions of CD8 + T cells and/or NK cells, as well as altering the tumor microenvironment for more effective antitumor immune response (data not shown). (hindawi.com)
- In recent years, study found that TIM-1 is mainly expressed on the surfaces of CD4 + T cells, CD8 + T cells, NK cells, macrophages, DCs, B cells, and mast cells [ 28 ]. (hindawi.com)
- Moreover, it is also found that TIM-1 is expressed in lymphoid tissues [ 8 , 29 ] and confirmed that TIM-1 can promote the production of cytokines and enhance the antigen induced immune response of T cells [ 30 - 35 ]. (hindawi.com)
- TIM-1 is a highly efficient costimulatory molecule, which can enhance the formation of CD3-TCR with agonistic anti-TIM-1 antibody involved in the activation of T cells [ 7 , 8 , 37 , 39 ]. (hindawi.com)
- TIM-4 is expressed on the surface of antigen presenting cells (APCs) such as macrophages and dendritic cells, working as an endogenous ligand of TIM-1 [ 5 , 42 , 43 ]. (hindawi.com)
- TIM-4 can promote T cell activation, proliferation, and cytokine production by binding to TIM-1, which mediates the positive regulation of T cells and triggers the immune response with costimulatory effect [ 30 , 40 ]. (hindawi.com)
- PS is another important ligand of TIM-1 and can activate NKT cells by binding to TIM-1 on the surface of NKT cells [ 12 , 44 , 45 ]. (hindawi.com)
- If, however, the baby is genetically male, with both an X and a Y chromosome, and all goes as planned, around day 51 the Y, or male designating chromosome, signals the gonad's Sertoli cells to blast the female organs with an anti-feminine secretion called AFH. (oneradionetwork.com)
- Chromosome 15 spans about 106 million base pairs (the building material of DNA ) and represents between 3% and 3.5% of the total DNA in cells . (bionity.com)
- The 2nd X chromosome in the feminine cells which can be a Barr human anatomy, denoted as X, differs from the others. (deaconbill.com)
- The Barr human anatomy happens to be seen in the nuclei of female cells just rather than in male cells. (deaconbill.com)
- 4 This obviously shows that the X intercourse chromosomes in female and cells that are male some distinctions. (deaconbill.com)
- The Barr human body plays http://bestbrides.org/ukrainian-brides a essential part in differentiating amongst the 2 X chromosomes in feminine cells while the X chromosome in male cells. (deaconbill.com)
- Future challenges in the generation of hepatocyte like cells from human pluripotent stem cells. (uio.no)
- Low-dose acetaminophen induces early disruption of cell-cell tight junctions in human hepatic cells and mouse liver. (uio.no)
- Small molecule directed hepatocytes like cells differentiation of human pluripotent stem cells. (uio.no)
- Small molecule driven hepatocyte differentiation of human pluripotent stem cells. (uio.no)
- 2013) Modelling human disease with pluripotent stem cells. (uio.no)
- Detailed analysis of statistical data on 3D DNA fluorescence inside neutrophils [1-4] shows that the actual topology of complex networks for full set chromosomes in living cells is much more complicated than traditional schematic description mesh, ring and other computer nets. (scirp.org)
- However, there are some common patterns, versatile features and switching in fluorescence networks which allow us to classify different types of correlations at oxidative activity of DNA inside cells for any donor [1-4]. (scirp.org)
- Each kind of eukaryotic organism has a specific number of chromosomes in its body cells. (slideserve.com)
- To determine the consequences of whole chromosome instability ( W-CIN ) we down-regulated the spindle assembly checkpoint component BUB1 and the mitotic cohesin SMC1A, and used four-color-interphase-FISH coupled with BrdU incorporation and analyses of senescence features to reveal the fate of W-CIN cells. (nature.com)
- Among the inducers of cellular senescence, particularly in human cells, is the telomere attrition that convey repeated cell division in the absence of telomerase, as well as other forms of DNA damage, most notably DNA double-strand breaks and oxidative stress ( OS ) 1 . (nature.com)
- Our approach has led to identification of HIC-1 (hypermethylated in cancer), a new zinc-finger transcription factor gene which is ubiquitously expressed in normal tissues, but underexpressed in different tumour cells where it is hypermethylated. (elsevier.com)
- Multiple characteristics of this gene, including the presence of a p53 binding site in the 5' flanking region, activation of the gene by expression of a wild-type pS3 gene and suppression of G418 selectability of cultured brain, breast and colon cancer cells following insertion of the gene, make HIC-1 gene a strong candidate for a tumour suppressor gene in region 17pl3.3. (elsevier.com)
- Recently published research papers are now demonstrating how Human cells can rewrite RNA sequences into DNA Chromosomes. (ethealing.com)
- Cells are the microscopic units that make up humans and every other living organism. (visiblebody.com)
- Some organisms consist of only one cell, while others (like humans) have trillions of cells! (visiblebody.com)
- Most cells in the human body can divide via a processes called mitosis. (visiblebody.com)
- A "mosaic" genetic composition in which some cells have XX chromosomes and others have XY, or their chromosomes are XXY. (ourbodiesourselves.org)
- We have developed an antibody to study its pattern of expression and observed that SSTY is specifically express in differentiating germ cells where it colocalizes with the sex chromosomes. (europa.eu)
- Caveolin-2 has the same tissue distribution as and co-localizes with Caveolin-1, whereas Caveolin-3 is expressed only in cardiac, skeletal, and smooth muscle cells. (sputnic-group.ru)
- 1 Caveolin-1 is indeed a "tumor suppressor" whose reduction/deletion in cells would provide growth advantages and expedite tumorigenesis. (sputnic-group.ru)
- Immunohistochemical analysis demonstrated expression of IL1HY2 in basal epithelia of human skin, in human tonsil germinal center, and in some proliferating tonsillar B cells, but not T cells. (jetaninchina.com)
- It is expressed on hematopoietic cells include lymphocytes 1,2 , mast cells 3 , neutrophils 2 , eosinophils 4 , NK cells 5 , monocytes 1,2 , some dendritic cells 6 ,some hematopoietic progenitors 7 and macrophages 8 . (hcdm.org)
- In cells undergoing male meiosis, the MTs emanating from the centrosomes do not appear to interact properly with the chromosomes, which remain dispersed within dividing spermatocytes (SPCs). (bgu.ac.il)
- More papers have been published on unintended outcomes and risks of gene editing in medical research on human and animal cells and laboratory animals, compared with plants. (gmwatch.org)
- The studies listed below are on human and animal cells, laboratory animals, livestock animals, and plants. (gmwatch.org)
- The nanotube bundles are similar to the potential of nanotubes to induce genetic damage size of microtubules that form the mitotic spindle in normal lung cells, cultured primary and immor- and may be incorporated into the mitotic spindle talized human airway epithelial cells were apparatus. (cdc.gov)
- major histocompatibility complex: (in mammals) a group of genes located next to or near each other on a specific chromosome, the sixth in humans, most of which encode glycoproteins of highly variable shapes that are expressed on almost all cell surfaces: it plays the dominant role in distinguishing one individual's cells from another's and in determining the histocompatibility of any two individuals. (en-academic.com)
- 5. In 2001, France and Germany requested the United Nations General Assembly to develop international conventions on human reproductive cloning, therapeutic cloning and research on stem cells. (who.int)
- Chronic exposure to carbon nanotubes induces invasion of human mesothelial cells through matrix metalloproteinase-2. (cdc.gov)
- Neoplastic-like transformation effect of single-walled and multi-walled-carbon nanotubes compared to asbestos on human lung small airway epithelial cells. (cdc.gov)
- Subchronic exposure of carbon nanotubes to human small airway epithelial cells induces neoplastic transformation and toxicogenomic responses. (cdc.gov)
20222
- Last updated on Aug 1, 2022. (drugs.com)
- Sep 22, 2022 Telomere vesicles retained the Rad51 recombination factor that enabled telomere fusion with T-cell chromosome ends lengthening them by an average of 3,000 base pairs. (hilfenetzwerk-cic.de)
Lymphocytes3
- The biological endpoint of interest was the occurrence of dicentric chromosomes in human lymphocytes (see Figure 1). (ptb.de)
- After that, the frequency of the occurrence of dicentric chromosomes in human lymphocytes was determined 1) . (ptb.de)
- By stimulating human memory T lymphocytes with heat-killed Candida albicans, van de Veerdonk et al. (jetaninchina.com)
Disorders5
- Donate now to increase awareness and research into chromosome disorders. (chromodisorder.org)
- Physicians, genetic counselors, therapists and other healthcare professionals, register now to help us learn more about rare chromosome disorders: the associated symptoms, new research and evolving treatments. (chromodisorder.org)
- Help us in our efforts to raise awareness of rare chromosome disorders by visiting our online store. (chromodisorder.org)
- Aspects of human genetics, with special reference to X-linked disorders / volume editors, C. San Rom'an Cos-Gay'on, A. McDermott. (who.int)
- Here the genetic factors can influence the development of a variety of neurologic disorders that are typically inherited from parents through genes and chromosomes. (nanavatimaxhospital.org)
Proteins11
- Chromosome 20 likely contains 500 to 600 genes that provide instructions for making proteins. (medlineplus.gov)
- These genetic elements, normally dormant within human genomes, can be (re)-activated by environmental factors such as infections with other viruses, leading to the expression of viral proteins and, in some instances, even to viral particle production. (frontiersin.org)
- Alterations in mitochondrial dynamics due to mutations in proteins involved in the fusion-fission machinery represent an important pathogenic mechanism of human diseases. (centrodinoferrari.com)
- Previous studies have catalogued libraries of mutant mice that lack specific classes of proteins 3 or exhibit behavioural phenotypes 4 . (nature.com)
- This strongly suggests functional reasons for the amino acid sequences of human and ape proteins, and shows their similarities can be explained as being due to functional requirements. (evolutionnews.org)
- TIDA neuron recovery is associated with an increase in the PD-associated proteins, parkin and ubiquitin carboxy-terminal hydrolase L-1 (UCHL-1) within the arcuate nucleus (ARC) 24 h following MPTP. (msu.edu)
- Caveolin-1 is intricately involved in caveolar functioning and has been found to be a key regulator of some of signaling proteins. (sputnic-group.ru)
- Many of the proteins that interact with, transcriptionally repress, or are inhibited by Caveolin-1 fall under the pro-proliferative, oncogenic, and anti-apoptotic category of molecules. (sputnic-group.ru)
- Caveolin 1 and Caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. (sputnic-group.ru)
- Detects endogenous Caveolin-1 proteins and reacts with both Caveolin-1 alpha and beta isoforms without cross-reactivity with other family members. (sputnic-group.ru)
- This domain occurred 360 times on human genes ( 816 proteins). (umbc.edu)
Whole chromosome1
- Pancentromere staining determined whether the DNA damage is clastogenic (chromosome breakage) or aneugenic (whole chromosome gain or loss). (cdc.gov)
Organisms2
- There exist shared "nonfunctional" pseudogenes between humans and chimps and other organisms. (evolutionnews.org)
- Diploid organisms, such as humans, have chromosomes that come in homologous pairs (except for the sex chromosomes), with each parent contributing one chromosome per homologous pair. (maplesoft.com)
Deletions5
- Approximately 7 percent of individuals with Alagille syndrome have small deletions of genetic material on chromosome 20, in a region known as 20p12. (medlineplus.gov)
- However, other affected individuals do not have gene deletions associated with the ring chromosome. (medlineplus.gov)
- Deletions involving the long (q) arm of chromosome 20 appear to be common in blood-related cancers such as leukemia and lymphoma. (medlineplus.gov)
- Chromosome 20 deletions in myeloid malignancies: reduction of the common deleted region, generation of a PAC/BAC contig and identification of candidate genes. (medlineplus.gov)
- Overall, 4 of the 50 patients tested (8%) exhibited deletions of the Y chromosome, 3 of them being azospermic and 1 of them oligospermic men. (who.int)
20163
- 2016. A unified encyclopedia of human functional elements through fully automated annotation of 164 human cell types. (washington.edu)
- 2016 Jan. 51(1):18-22. (medscape.com)
- eISSN: 2288-5943Ultrasonography 2016;35:281-288 During the last 15 years, traditional breast cancer classifications based on histopathology have been reorganized into the luminal A, luminal B, human epidermal growth factor receptor 2 (HER2), and basal-like subtypes based on gene expression profiling. (2medicalcare.com)
Genetics4
- They were selected from the outpatient clinic of the Human Genetics Department, Medical Research Institute, Alexandria University. (who.int)
- Journal of Human Genetics , 43 (4), 285-286. (elsevier.com)
- European Society of Human Genetics. (who.int)
- The MC funding has allowed a young researcher (Julie Cocquet, the MC fellow) with expertise in the fields of mouse genetics, molecular and cell biology, to join a very dynamic and supportive environment (the host lab: Daniel Vaiman's group at the Cochin Institute, Paris, France) which studies epigenetics and human reproductive biology. (europa.eu)
20181
- 2018 Mar. 15(3):152-67. (medscape.com)
Differentiation5
- Simple and rapid screen for human pluripotent stem cell endoderm differentiation potential. (uio.no)
- Development of a rapid screen for the endodermal differentiation potential of human pluripotent stem cell lines. (uio.no)
- BACKGROUND: Deleterious variation in the epidermal differentiation complex (EDC) on chromosome 1 is a well-known genetic determinant of atopic dermatitis (AD) and has been associated with risk of peanut allergy (PA) in population-based studies. (bvsalud.org)
- In mice and men, sperm differentiation requires a high proportion of genes located on the sex chromosomes (i.e. the X and the Y). Expression of these genes is tightly controlled by epigenetic processes which remain to be studied. (europa.eu)
- The aim of our project was to better understand the epigenetic regulation of sex chromosomes during sperm differentiation and its impact on sperm development and male fertility. (europa.eu)
Sister chromatids2
- Each one has two strands called sister chromatids (tids are a chromosomes kids), held together at the centromere (centromere is at the center). (slideserve.com)
- 1. Centromeres separate (sister chromatids become 2 chromosomes! (slideserve.com)
Cytogenetic Analysis1
- Cytogenetic analysis has shown a modal chromosome number of 50 with some marker chromosomes, including rearrangements of chromosomes 1 and 3. (elsevier.com)
Aberration2
- Various confounding factors were also evaluated for potential effects on chromosome aberration frequencies. (allenpress.com)
- Taken together, we find that our approach of combined chromosome aberration-based retrospective biodosimetry provided reliable dose estimation capability, particularly on a group average basis, for exposures above statistical detection limits. (allenpress.com)
Metacentric1
- The large, metacentric human chromosomes, called group A in the human chromosome classification. (bvsalud.org)
Pairs5
- Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
- Two copies of chromosome 20, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
- Chromosome 15 is one of the 23 pairs of chromosomes in humans. (bionity.com)
- This group consists of chromosome pairs 1, 2, and 3. (bvsalud.org)
- For researchers who wish to convert T/S ratio to base pairs (bp), the formula is (3,274 + 2,413 * (T/S)). The conversion from T/S ratio to bp is calculated based on comparison of telomeric restriction fragment (TRF) length from Southern blot analysis and T/S ratios using DNA samples from the human diploid fibroblast cell line IMR90 at different population doublings. (cdc.gov)
Sperm3
- Sperm by having a Y chromosome can just only fuse by having an ovum containing the chromosome that is'X. (deaconbill.com)
- Methods Human clinical phenotyping, surgical testicular sperm extraction and testicular tissue staining. (bgu.ac.il)
- 1) the ovum contributes one chromosome of each pair to the fertilized cell (2) When a human sperm fertilizes a human ovum , a single cell is created with the potential to grow into a human person. (english-kannada.com)
20172
- 2017 Dec 1. (medscape.com)
- 2017):5:(3):301-314. (uio.no)
Spindle1
- Generation and analysis of short spindle 3 (ssp3) (SCAPER orthologue) Drosophila CAS9-knockout lines. (bgu.ac.il)
Drosophila2
- 1. Diagrammatic representation of chromosome map of Drosophila is given below. (bankofbiology.com)
- These results raise the intriguing possibility of a common feature between human and Drosophila meiosis. (bgu.ac.il)
Sequences2
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (nih.gov)
- A cDNA clone for human immune interferon (IFN-gamma) gene sequences, plasmid p69, was used to chromosomally map the IFN-gamma gene by detecting human IFN-gamma gene sequences in DNA isolated from human-rodent somatic cell hybrids. (rupress.org)
Cell20
- In these people, the ring chromosome may change the activity of certain genes on chromosome 20, or it may be unable to copy (replicate) itself normally during cell division. (medlineplus.gov)
- These include an extra segment of the short (p) or long (q) arm of the chromosome in each cell (partial trisomy 20p or 20q) or a missing segment of the short or long arm of the chromosome in each cell (partial monosomy 20p or 20q). (medlineplus.gov)
- Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. (nih.gov)
- Sites of transcription of polyadenylated and nonpolyadenylated RNAs for 10 human chromosomes were mapped at 5-base pair resolution in eight cell lines. (semanticscholar.org)
- Southern blot analysis of 37 hybrid cell lines indicated that the gene for IFN-gamma was on human chromosome 12. (rupress.org)
- Figure 1 : Human lymphocyte in the first cell division cycle in vitro (the arrow points at a dicentric chromosome). (ptb.de)
- The majority of these affected genes are potential or known tumor suppressor genes that are regulators of different cellular pathways, such as cell cycle, DNA repair, growth factor signaling or cell adhesion [ 3 ]. (biomedcentral.com)
- People normally have two copies of this chromosome in each cell, one copy from each parent. (bionity.com)
- The established non papillary human renal carcinoma cell line (RCC) KJ29 was submitted to a multiparametric characterization to evaluate its potential use for in vitro and in vivo studies. (elsevier.com)
- A differential expression of the VLA-3 integrin heterodimer has been detected between the adherent and non adherent cell population. (elsevier.com)
- The cell line which is highly tumorigenic in athymic mice displays expression of erb B-2 and c-met oncogenes and high expression of cell-cycle related and Ha-ras 1 genes. (elsevier.com)
- only the Y chromosome was thought to be different in cell biology. (deaconbill.com)
- The terms antibody and immunoglobulin are often used interchangeably, [1] though the term 'antibody' is sometimes reserved for the secreted, soluble form, i.e. excluding B-cell receptors. (wikipedia.org)
- As a result of mitosis, each daughter cell receives an exact copy of the chromosomes present in the parent cell (the directions). (slideserve.com)
- 1986), a human cell micronucleus assay (Budinsky et al. (europa.eu)
- For example, children with Down syndrome can be born with a heart defect and Down syndrome is a genetic condition in which children have extra genetic material known as chromosome number 21 in every cell of their body, and it's thought that this extra genetic material causes the infant's heart not to develop normally during the pregnancy. (cdc.gov)
- 11 CaSki, a human cervical cancer cell collection, was obtained from American Type INCB018424 biological activity Culture Collection (Manassas, VA). CaSki monolayers were grown in RPMI-1640 medium with 10% FBS and 2.5 mmol/L L-glutamine. (irjs.info)
- The PCR test template (gene sequence) for the "lab test" also is the same as that found on Chromosome 8, and it has also been found in Swabs used to collect nasal cell samples. (ethealing.com)
- Evidence in humans and animal models suggests that IgE-mediated mast cell activation gives rise to both the acute and late-phase responses. (jci.org)
- 2. Nuclear transfer is a technique used to duplicate genetic material by creating an embryo through the transfer and fusion of a diploid cell in an enucleated female oocyte.2 Cloning has a broader meaning than nuclear transfer as it also involves gene replication and natural or induced embryo splitting (see Annex 1). (who.int)
Diseases9
- As photon radiation with energies above 1 MeV is used in radiation therapy for the treatment of cancer diseases, the knowledge gained about the RBE of such radiation is important, for example, for the assessment of possible late damages in radiation therapy and may even influence the therapy scheme. (ptb.de)
- Previous studies have indicated that in vivo TIM-1 gene mutations in human and mouse are associated with some allergic diseases [ 8 , 20 ]. (hindawi.com)
- Abnormal expression of TIM-1 is related to some autoimmune diseases [ 21 - 27 ]. (hindawi.com)
- Chromosome Disorder Outreach is asked frequently how to learn more about the genes associated with human diseases involved in any chromosome disorder. (chromodisorder.org)
- These trends give the overall assessments of human immunity, including hidden and unidentified diseases, and as a sum of all kinds of health and illness of given person, from the point of view the inner life of neutrophils, living in different parts of human body in given time. (scirp.org)
- Allergists are frequently faced with patients simultaneously suffering from 3 diseases - asthma, atopic dermatitis, and allergic rhinitis, a constellation recognized as the "atopic triad. (jci.org)
- Researchers, journalists, and inquiring minds want to know more about telomeres, which seem to hold clues to human aging and age-related diseases. (cdc.gov)
- Today, we recognize that ER-positive breast cancers and ER-negative breast cancers constitute different diseases [1]. (2medicalcare.com)
- Screening tests for certain genetic diseases among newborn infants (i.e., those aged less than or equal to 1 month) currently are widely accepted and used. (cdc.gov)
Autosomal3
- This type of oculocutaneous mutation is caused by a defect in a gene located in human chromosome 11 and is inherited as an autosomal recessive trait, which means that an individual must inherit 2 defective genes from his/her parents for the disorder to occur. (thebrightesthub.com)
- OCA type 2 is caused by a defect in the gene found in chromosome 15 and is also inherited as an autosomal recessive trait. (thebrightesthub.com)
- 2. After analyzing the karyotype of a short statured round headed person with mental retardation, a general physician noticed an addition of autosomal chromosome. (bankofbiology.com)
Regulates2
- This review tries to describe how TIM-1 regulates immune function and takes part in antitumor immune responses and illustrates the mechanism of immune regulation. (hindawi.com)
- Caveolin-1 interacts with and negatively regulates the EGFR, PDGFR, and Neu tyrosine kinases, Ha-Ras, c-Src, and phosphatidylinositol 3-kinase. (sputnic-group.ru)
Syndrome15
- Ring chromosome 20 syndrome is caused by a chromosomal abnormality known as a ring chromosome 20 or r(20). (medlineplus.gov)
- It is not well understood how the ring chromosome causes the signs and symptoms of this syndrome. (medlineplus.gov)
- Researchers are still working to determine the precise relationship between the ring chromosome 20 and the characteristic features of the syndrome. (medlineplus.gov)
- Angelman syndrome results from a loss of gene activity in a specific part of chromosome 15, the 15q11-q13 region. (bionity.com)
- In most cases (about 70%), people with Angelman syndrome have a deletion in the maternal copy of chromosome 15. (bionity.com)
- In 3% to 7% of cases, Angelman syndrome occurs when a person has two copies of the paternal chromosome 15 instead of one copy from each parent. (bionity.com)
- About 10% of Angelman syndrome cases are caused by a mutation in the UBE3A gene, and another 3% result from a defect in the DNA region that controls the activation of the UBE3A gene and other genes on the maternal copy of chromosome 15. (bionity.com)
- Prader-Willi syndrome is caused by the loss of active genes in a specific part of chromosome 15, the 15q11-q13 region. (bionity.com)
- Researchers are working to identify genes on chromosome 15 that are responsible for the characteristic features of Prader-Willi syndrome. (bionity.com)
- In about 70% of cases, Prader-Willi syndrome occurs when the 15q11-q13 region of the paternal chromosome 15 is deleted. (bionity.com)
- In-depth analysis of three mutants, Krt76, Myo5a (a model of human Griscelli syndrome) and Mysm1 , provides validation of the screen. (nature.com)
- For patients with chromosome 22q11.2 deletion syndrome, gynecologic evaluation and contraceptive education should be instituted at age 12-18 years and after age 18 years. (medscape.com)
- [ 1 ] The syndrome is allelic to dermatopathia pigmentosa reticularis . (medscape.com)
- Clementi M, Tenconi R, Turolla L, Silvan C, Bortotto L, Artifoni L. Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome. (medscape.com)
- Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. (medscape.com)
Circular2
- A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and its broken ends fuse together. (medlineplus.gov)
- Instead, their DNA can be found in the cytoplasm in a region called the nucleoid or in circular chromosomes called plasmids. (visiblebody.com)
Inversions1
- This review provides an overview of the current knowledge about human inversions and their contribution to human phenotypes. (biomedcentral.com)
Recombination1
- Just chromosomes that participated in recombination could unite to make the zygote. (deaconbill.com)
Pair7
- Chromosomes, Human, Pair 19" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (ouhsc.edu)
- A specific pair of GROUP F CHROMOSOMES of the human chromosome classification. (ouhsc.edu)
- This graph shows the total number of publications written about "Chromosomes, Human, Pair 19" by people in this website by year, and whether "Chromosomes, Human, Pair 19" was a major or minor topic of these publications. (ouhsc.edu)
- Below are the most recent publications written about "Chromosomes, Human, Pair 19" by people in Profiles. (ouhsc.edu)
- Two peer-reviewed papers and a book chapter have already been published in the ID-community related to modeling these questions, and early evidence suggests that an initial pair is capable of explaining human genetic diversity. (evolutionnews.org)
- It cause loss of one chromosome out of a pair. (nanavatimaxhospital.org)
- Each chromosome in a given homologous pair represents the same genes, but with different expressions (called alleles ) of those genes. (maplesoft.com)
Homolog1
- reported this novel mecA homolog exhibited 70% identity at DNA level to the mecA gene, and suggested these strains were transmitted from livestock to humans ( 4 ). (cdc.gov)
Genet1
- Am J Med Genet A . 2010 Mar. 152A(3):674-86. (medscape.com)
Large numbers of genes1
- Changes in chromosomes, whether in number or in structure, have large effects on characteristics because they contain large numbers of genes. (nanavatimaxhospital.org)
Abnormal2
- The presence of abnormal liver function tests became more pronounced during hospitalisation within two weeks, with total bilirubin levels elevated 3 times the upper normal limit 6 . (randox.com)
- The long-term goal is to determine if abnormal epigenetic regulation of XY genes is at the basis of unexplained cases of human infertility. (europa.eu)
Nucleus1
- Micronuclei (MN) are free round or egg-shaped corpuscles, about 1/3 to 1/16 of the nucleus size [4, 5, 25]. (bvsalud.org)
Contributes2
- This is changed because of the contemporary technology view that the daddy contributes the determining element, predicated on observation of intercourse chromosomes after zygote development. (deaconbill.com)
- Half of it is excreted into bile and the rest contributes to blood bilirubin turnover 1 . (randox.com)
Occurs4
- Promoter methylation effectively represses RNA transcription and occurs in many genes involved in human cancer development [ 2 ]. (biomedcentral.com)
- OCA type 1 occurs in 1 person per 40,000 people. (thebrightesthub.com)
- o Death occurs within 3 days. (cdc.gov)
- Lengthening of long bones in humans occurs in a particular area of the bone. (studyinnovations.com)
Male10
- Human male births have always held a marginal advantage, probably Nature's way of insuring that enough of the somewhat more physically vulnerable male infants will survive. (oneradionetwork.com)
- You may already know that male humans have an X and a Y chromosome . (wonderopolis.org)
- This fundamental theory proposes a brand brand new style of intercourse determination, challenging the prevailing dogma that the male Y chromosome regarding the dad could be the single determinant associated with the intercourse associated with offspring. (deaconbill.com)
- Based on science that is modern the 3 X chromosomes (male XY and female XX) are thought become comparable, as well as the intercourse of this offspring is set following the zygote is created. (deaconbill.com)
- The very first X in feminine XX chromosomes and X in male XY chromosomes are comparable while they lack Barr human anatomy consequently they are hereby denoted as 'X' and known as ancestral chromosomes. (deaconbill.com)
- 2) If a spermatozoon with Y chromosome fuses with all the ovum, the offspring could be male (46, XY). (deaconbill.com)
- The existence of Y chromosome had been required for the delivery of a male (XY) offspring, as well as its lack triggered a lady (XX) offspring. (deaconbill.com)
- A male has one X chromosome and a female has two X chromosomes. (thebrightesthub.com)
- A male automatically develop ocular albinism once he inherits an X chromosome with the defective gene. (thebrightesthub.com)
- 1. Male or female participants between 1 and less than 18 years of age. (who.int)
Epigenetic2
- Secreted Wnt signaling antagonists have recently been described as frequent targets of epigenetic inactivation in human tumor entities. (biomedcentral.com)
- The most common epigenetic alteration in human cancer affecting gene expression is 5'-cytosine methylation within CpG islands in gene promoter regions [ 1 ]. (biomedcentral.com)
Biological4
- Information shown will be the average of 3 biological replicates with standard errors in the imply. (hivinhibitor.com)
- Series A, Biological sciences and medical sciences, 73 (1), 39-47 doi:10.1093/gerona/glx082. (irb.hr)
- Both subclones were grown as monolayers on -irradiated (5000 rads) Swiss Mouse 3T3 fibroblast feeder layers in INCB018424 biological activity F-medium (3:1 F12 and Dulbeccos modified Eagles medium) with 5% fetal bovine serum (FBS). (irjs.info)
- 1. Cloning is an umbrella term traditionally used to describe different processes for duplicating biological material. (who.int)
