BMP-15 gene dosage varies and impacts ovarian development in Turner syndrome patients. The gene is thus involved in determining ... The BMP-15 gene is located on the X-chromosome and using Northern blot analysis BMP-15 mRNA is locally expressed within the ... Mutations within the gene for BMP-15 have been associated with reproductive complications in females, due to the X-linked ... This condition develops due to BMP-15 role in folliculogenesis, and the errors that occur when a mutant gene is inherited. The ...

"A Drosophila homolog of the polyglutamine disease gene SCA2 is a dosage-sensitive regulator of actin filament formation". ... "Identification of alternative splicing of spinocerebellar ataxia type 2 gene". Gene. 267 (1): 89-93. doi:10.1016/S0378-1119(01) ... "Entrez Gene: ATXN2 ataxin 2". Orr HT (April 2012). "Cell biology of spinocerebellar ataxia". The Journal of Cell Biology. 197 ( ... Ataxin-2 is a protein that in humans is encoded by the ATXN2 gene. Mutations in ATXN2 cause spinocerebellar ataxia type 2 (SCA2 ...

Elson A, Bernstein Y, Degani H, Levanon D, Ben-Hur H, Groner Y (March 1992). "Gene dosage and Down's syndrome: metabolic and ... Moreover, the PFKL gene maps to the triplicated region of chromosome 21 responsible for DS, indicating that this gene, too, has ... 6-phosphofructokinase, liver type (PFKL) is an enzyme that in humans is encoded by the PFKL gene on chromosome 21. This gene ... "Entrez Gene: PFKL phosphofructokinase, liver". Levanon D, Danciger E, Dafni N, Bernstein Y, Elson A, Moens W, Brandeis M, ...

... association with neuropeptide Y gene dosage in an extended pedigree" (PDF). Mol Psychiatry. 16 (5): 491-503. doi:10.1038/mp. ... His 1996 paper on the association between the 5-HTTLPR polymorphism in the serotonin transporter gene and the personality trait ... "Association of anxiety-related traits with a polymorphism in the serotonin transporter gene regulatory region". Science. 274 ( ... "Association of anxiety-related traits with a polymorphism in the serotonin transporter gene regulatory region". Science. 274 ( ...

Unlike single gene disorders, diseases caused by aneuploidy are the result of improper gene dosage, not nonfunctional gene ... TDF functions by activating the SOX9 gene on chromosome 17, so mutations of the SOX9 gene can cause humans with an ordinary Y ... Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y ... Fetuses with aneuploidy of gene-rich chromosomes-such as chromosome 1-never survive to term, and fetuses with aneuploidy of ...

"Integration of gene dosage and gene expression in non-small cell lung cancer, identification of HSP90 as potential target". ... Heat shock protein HSP 90-alpha is a protein that in humans is encoded by the HSP90AA1 gene. The gene, HSP90AA1, encodes the ... Gene. 542 (2): 122-8. doi:10.1016/j.gene.2014.03.046. PMID 24680776. Jameel A, Skilton RA, Campbell TA, Chander SK, Coombes RC ... The HSP90AA1 gene however is not altered in a majority of tumors according to The Cancer Genome Atlas (TCGA). Currently bladder ...

Zhang J, Tian L, Zhang Y, Shen J (November 2015). "The influence of VKORC1 gene polymorphism on warfarin maintenance dosage in ... The human gene is located on chromosome 16. Two pseudogenes have been identified on chromosome 1 and the X chromosome. In ... "Entrez Gene: VKORC1 vitamin K epoxide reductase complex, subunit 1". Ryan P., Owen; Li, Gong; Hersh, Sagreiya; Teri E., Klein; ... The human gene VKORC1 encodes for the enzyme, Vitamin K epOxide Reductase Complex (VKORC) subunit 1. This enzymatic protein ...

... the amount of gene product (or gene dosage) will increase with each additional gene copy, until some upper limit is reached or ... Evolution by gene duplication is an event by which a gene or part of a gene can have two identical copies that can not be ... However, at a later time, such mutations could still occur, leading to genes with different functions (see below). Gene dosage ... instead of one gene locus). However, the accidental loss of one gene copy might then be detrimental, since one copy of the gene ...

Since individuals of either sex will receive two copies of every gene in a pseudoautosomal region, no dosage compensation is ... in females that are heterozygous at the involved gene or genes than in females that are homozygous at that gene or those genes ... meaning that the Tsix gene overlaps the Xist gene and is transcribed on the opposite strand of DNA from the Xist gene. Tsix is ... The silencing of genes along the Xi occurs soon after coating by Xist RNA. Like Xist, the Tsix gene encodes a large RNA which ...

... variation in gene dosage compared to other structural variants and that the gene expression variation is created by the dosage ... have on gene dosage which leads to variable gene expressions and human phenotypic diversity in the population. There are ... The first gene dosage effect that was observed, and considered to be an autosomal dominant disease from an inherited DNA ... The differences in gene dosage created vastly different disease phenotypes which revealed the significant role that structural ...

1980). "Evidence for the assignment of GUK 1 gene locus to 1q32 leads to q43 segment from gene dosage effect". Ann. Genet. 23 ( ... "Entrez Gene: GUK1 guanylate kinase 1". Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of ... Guanylate kinase is an enzyme that in humans is encoded by the GUK1 gene. GRCh38: Ensembl release 89: ENSG00000143774 - Ensembl ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 1, All stub articles, ...

Challenging the gene dosage effect hypothesis (Part IV)". Amino Acids. 25 (1): 41-7. doi:10.1007/s00726-003-0009-9. PMID ... Another carbonyl reductase gene, CBR3, lies close to this gene on chromosome 21q22.12. CBR1 metabolizes many toxic ... localized to band 21q22.1 by high-resolution fluorescence in situ hybridization displays gene dosage effects in trisomy 21 ... localized to band 21q22.1 by high-resolution fluorescence in situ hybridization displays gene dosage effects in trisomy 21 ...

Mecp2 gene dosage effects and BDNF expression". Eur. J. Neurosci. 27 (12): 3342-50. doi:10.1111/j.1460-9568.2008.06305.x. PMID ... November 2000). "Effects of environmental enrichment on gene expression in the brain". Proc. Natl. Acad. Sci. U.S.A. 97 (23): ... Enriched environments affect the expression of genes that determine neuronal structure in the cerebral cortex and hippocampus. ...

"A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye ... Forkhead box C1, also known as FOXC1, is a protein which in humans is encoded by the FOXC1 gene. This gene belongs to the ... "Entrez Gene: FOXC1 forkhead box C1". Pierrou S, Hellqvist M, Samuelsson L, Enerbäck S, Carlsson P (October 1994). "Cloning and ... The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of ...

"Foxe3 is required for morphogenesis and differentiation of the anterior segment of the eye and is sensitive to Pax6 gene dosage ... 2000). "A forkhead gene, FoxE3, is essential for lens epithelial proliferation and closure of the lens vesicle". Genes Dev. 14 ... Mutations in the FOXE3 gene are associated with anterior segment mesenchymal dysgenesis. Homozygous mutations in this gene have ... "Entrez Gene: forkhead box E3". Doucette L, Green J, Fernandez B, Johnson G, Parfrey P, Young T (2011). "A novel, non-stop ...

Increased dosage of X-linked genes, by whole or partial replication of the Xa or by whole or partial loss of XCI, is linked to ... Partial XCR may derepress one or more genes on the Xi, and the level of restored gene expression may not be as high as it would ... XCI serves a central function in sex-chromosome dosage compensation. Xi reactivation currently doesn't target specific genes, ... Experiments originally showed that eliminating the X-inactive specific transcript (Xist) gene, a gene that encodes a lncRNA ...

"Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band ... For example, a single mutation from A to G in exon 6 of the GALT gene changes Glu188 to an arginine and a mutation from A to G ... "Entrez Gene: GALT galactose-1-phosphate uridylyltransferase". Wong LJ, Frey PA (September 1974). "Galactose-1-phosphate ... Reichardt JK, Woo SL (April 1991). "Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human ...

Bánkfalvi A (November 2000). "Comparative methodological analysis of erbB-2/HER-2 gene dosage, chromosomal copy number and ... "Entrez Gene: Antigen identified by monoclonal antibody Ki-67". Schonk DM, Kuijpers HJ, van Drunen E, van Dalen CH, Geurts van ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome 10, Cell biology, ... Genes to Cells. 7 (12): 1231-42. doi:10.1046/j.1365-2443.2002.00596.x. PMID 12485163. S2CID 6802841. Ki-67+Antigen at the U.S. ...

... phenotypic support for hypothesized diametric gene-dosage effects". Proceedings. Biological Sciences. 281 (1794): 20140604. doi ... Carey B (2008). "In a Novel Theory of Mental Disorders, Parents' Genes Are in Competition". The New York Times. Ciaramidaro A, ... Genomic imprinting is an epigenetic process by which certain genes are expressed in a parent-of-origin-specific manner. The ... The kinship theory argues that in diploid organisms, such as humans, the maternal and paternal set of genes may have ...

... phenotypic support for hypothesized diametric gene-dosage effects". Proceedings of the Royal Society B: Biological Sciences. ... This mechanism is defined as maintaining multiple alleles of a gene in the gene pool of a population despite having selective ... Additional studies conducted using SNP analysis on the SLC39A8 gene, a gene associated with schizophrenia, found that the T- ... These beneficial traits associated with schizophrenia genes provide an explanation for selection of these genes in human ...

The marked difference between male and female chicks is due to gene dosage of the sex-linked barring gene ('barring' (B), ' ... doi:10.1111/j.1755-148X.2010.00700.x. B. J. Dorshorst, C. M. Ashwell (2009). Genetic mapping of the sex-linked barring gene in ... nonbarring' (b+)). This gene is located on the Z-Chromosome of birds. Birds have different sex-chromosomes (Z and w) and a ... is only possible because the male chicks have a double dose of the sex-linked barring gene (genotype B/B), while the female ...

Development appears critically sensitive to gene dosage, and variation in the normal level of transcription factor activity ... Several gene mutations have been identified underlying these anomalies, with the majority of ASD genes encoding transcriptional ... In this review, the role of the ASD genes, PITX2 and FOXC1, is considered in relation to the embryology of the anterior segment ... The emerging view is that these genes act in concert to specify a population of mesenchymal progenitor cells, mainly of neural ...

This leads to dosage compensation problems: the two X chromosomes in the female will create twice as many gene products as the ... X inactivation allows for equal dosage of X-linked genes for both males and females by inactivating the extra X chromosome in ... Genes on human chromosome X, Genes mutated in mice, Molecular genetics). ... To mitigate this, one of the X chromosomes is inactivated in females, so that each sex only has one set of X chromosome genes. ...

... and include two deletion dosage sensor genes". Disease Models & Mechanisms. 5 (6): 834-851. doi:10.1242/dmm.009944. PMC 3484866 ... Expression of these genes answered the age-old question of when the embryo decides to make a nervous system: Sive showed that ... Function of these genes, including otx2 and zic1 (opl), was studied using hormone-inducible fusion proteins, a technique first ... Blaker-Lee, A.; Gupta, S.; McCammon, J. M.; De Rienzo, G.; Sive, H. (1 May 2012). "Zebrafish homologs of genes within 16p11.2, ...

1991). "Specification of small distal 6q deletions in two patients by gene dosage and in situ hybridization study of ... Plasma alpha-L-fucosidase (see alpha-L-fucosidase) is an enzyme that in humans is encoded by the FUCA2 gene. GRCh38: Ensembl ... "Entrez Gene: FUCA2 fucosidase, alpha-L- 2, plasma". Narahara K, Tsuji K, Yokoyama Y, et al. ( ... 2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome ...

This gradual loss of methylation marks leads to changes in the expression of crucial developmental genes that may be dosage ... Tumor suppressing genes are those which inhibit a cell's progression towards cancer. These genes are commonly associated with ... The presence of 5mC at the promoters of genes is generally associated with gene silencing. 5hmC, which is the oxidized product ... Furthermore, genes which have a high prevalence of 5hmC are also implicated in the pathology of other age related ...

... was done by treating arrhythmic mice lacking or with mutations to various genes in this feedback loop with MAP dosages. These ... The lab is working with a transgenic rat model with Per1 gene linked to a luciferase reporter to track the circadian expression ... The region of conserved synteny was the gene casein kinase I epsilon (CKIe). This is consistent with CKIe's homology to the ... Mohawk J.A., Baer M.L., Menaker M. The methamphetamine-sensitive circadian oscillator does not employ canonical clock genes" ...

... (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) is a nuclear receptor protein ... This protein also functions as an anti-testis gene by acting antagonistically to SRY. Mutations in this gene result in both X- ... "Entrez Gene: NR0B1 nuclear receptor subfamily 0, group B, member 1". Walker AP, Chelly J, Love DR, Brush YI, Récan D, Chaussain ... This gene encodes a protein that lacks the normal DNA-binding domain contained in other nuclear receptors. The encoded protein ...

This gene is a dosage dependent transcription factor involved in the regulation of proper expression of other genes. GBX2 ... Since this is a dosage dependent gene, the different amounts of gene present in certain location can cause different outcomes. ... This is the case with the other genes it helps to express like FGF8. With every gene comes some diseases associated with it. ... are the diseases most closely associated with the GBX2 gene. Gastrulation Brain Homeobox 2 (GBX2) is a homeobox gene involved ...

His team identified VKORC1 gene variants to play a major role in determining the warfarin dosage, a widely prescribed ... His team also discovered genetic links to the incidence of type 2 diabetes, the strong association of the gene HLA-B*15:02 with ... Lee, I-chia (29 March 2012). "Scientists identify genes that could predict diabetes". Taipei Times. Archived from the original ... They teamed with International Warfarin Consortium to formulate a universal algorithm that can better predict an optimal dosage ...

X chromosome inactivation (XCI) is the phenomenon that has been selected during the evolution to balance X-linked gene dosage ... XCI is usually divided in two phases, the establishment phase when gene silencing is reversible, and maintenance phase when ... Nora EP, Heard E (November 2009). "X chromosome inactivation: when dosage counts". Cell. 139 (5): 865-7. doi:10.1016/j.cell. ... November 2004). "Polycomb group proteins Ring1A/B link ubiquitylation of histone H2A to heritable gene silencing and X ...

If the duplicate copy increases the dosage effect of the gene product, then the duplicate may be retained as a redundant copy. ... Along with gene conversion, it is believed to be the main driver for the generation of gene duplications and is a source of ... Compared with gene conversion, which can only transfer a maximum of 1,500 base pairs, unequal crossing over in yeast rDNA genes ... Zimmer, E. A.; Martin, S. M.; Beverley, S. M.; Kan, Y. W.; Wilson, A. C. (1980). "Rapid duplication and loss of genes coding ...