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Longer titles found: Skewed X-inactivation (view)

searching for X-inactivation 63 found (174 total)

Mary F. Lyon (1,569 words) [view diff] no match in snippet view article find links to article

PMID 4554151. S2CID 39402646. Puck, J. M.; Willard, H. F. (1998). "X inactivation in females with X-linked disease". New England Journal of Medicine.

ATR-X syndrome (1,059 words) [view diff] exact match in snippet view article find links to article

skewed x-inactivation. When X-inactivation occurs randomly, half of the cells in the carrier female would contain the abnormality. When X-inactivation is

EIF2S3 (934 words) [view diff] exact match in snippet view article find links to article

eIF-2gamma in mouse and human: sex chromosome localization, escape from X-inactivation and evolution". Hum Mol Genet. 7 (11): 1725–37. doi:10.1093/hmg/7.11

IQSEC2 (581 words) [view diff] no match in snippet view article find links to article

Moore JM, et al. (2005). "Boundaries between chromosomal domains of X inactivation and escape bind CTCF and lack CpG methylation during early development"

40S ribosomal protein S4, Y isoform 1 (1,018 words) [view diff] no match in snippet view article find links to article

ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome". Cell. 63 (6): 1205–18

MED14 (1,446 words) [view diff] exact match in snippet view article find links to article

nuclear localization signal. This gene is known to escape chromosome X-inactivation. MED14 has been shown to interact with PPARGC1A, Estrogen receptor alpha

KDM5C (855 words) [view diff] exact match in snippet view article find links to article

"A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human". Human Molecular Genetics. 3 (6): 879–84. doi:10

Methyl-CpG-binding domain (570 words) [view diff] no match in snippet view article find links to article

chromatin structure, genomic imprinting, transposon and chromosome X inactivation, differentiation, and cancer. Effects of DNA methylation are mediated

UTX (gene) (823 words) [view diff] no match in snippet view article

Monaco AP, Willard HF, Koopman P (April 1998). "The UTX gene escapes X inactivation in mice and humans". Hum. Mol. Genet. 7 (4): 737–42. doi:10.1093/hmg/7

Hypohidrotic ectodermal dysplasia (1,065 words) [view diff] no match in snippet view article find links to article

carrier. Since females operate on only one of their two X chromosomes (X inactivation) a female carrier may or may not manifest symptoms of the disease. If

Centronuclear myopathy (1,478 words) [view diff] exact match in snippet view article find links to article

to a mutation in the myotubularin (MTM1) gene and extremely skewed X-inactivation (H&E stain, transverse section). Note marked variability in fibre size

CHILD syndrome (882 words) [view diff] no match in snippet view article find links to article

extent of involvement but rather the differences in the pattern of X inactivation. Although researchers suspect that low levels of cholesterol and/or

ADP/ATP translocase 3 (1,009 words) [view diff] exact match in snippet view article find links to article

pseudoautosomal gene encodes the ANT3 ADP/ATP translocase and escapes X-inactivation". Genomics. 16 (1): 26–33. doi:10.1006/geno.1993.1135. PMID 8486369

Properdin deficiency (1,434 words) [view diff] exact match in snippet view article find links to article

10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies". Eur. J. Hum. Genet. 8 (7): 513–8. doi:10.1038/sj.ejhg.5200496

Madelung's deformity (1,488 words) [view diff] exact match in snippet view article find links to article

3 of the pseudoautosomal region of the X chromosome, which escapes X-inactivation. Homozygous SHOX gene mutations result in Langer mesomelic dysplasia

Interleukin-9 receptor (1,118 words) [view diff] no match in snippet view article find links to article

the Xq/Yq pseudoautosomal region, has an autosomal origin, escapes X inactivation and is expressed from the Y". Hum. Mol. Genet. 6 (1): 1–8. doi:10.1093/hmg/6

Stanley Michael Gartler (1,710 words) [view diff] no match in snippet view article find links to article

later career reflected his continued interest in the X chromosome and X inactivation. Such work included discovery of the presence of two functional X chromosomes

FRMD7 (672 words) [view diff] no match in snippet view article find links to article

PMID 17893669. Kaplan Y, Vargel I, Kansu T, et al. (2008). "Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense

ZFX (721 words) [view diff] no match in snippet view article find links to article

structure similar to ZFY, the putative human sex determinant, and escapes X inactivation". Cell. 57 (7): 1247–58. doi:10.1016/0092-8674(89)90061-5. PMID 2500252

Trithorax-group proteins (853 words) [view diff] no match in snippet view article find links to article

Saf-A are recruited to the inactive X chromosome at the onset of stable X inactivation". Development. 137 (6): 935–43. doi:10.1242/dev.035956. PMC 2834461

Thymosin beta-4, Y-chromosomal (535 words) [view diff] no match in snippet view article find links to article

chromosome Y. Its homolog on chromosome X (thymosin beta-4) escapes X inactivation and encodes an actin sequestering protein. GRCh38: Ensembl release 89:

Sanjeev Galande (1,403 words) [view diff] no match in snippet view article find links to article

development and differentiation and The role of Chromatin reorganisers in X inactivation. Galande has detailed his research in a number of articles and ResearchGate

CTCF (3,172 words) [view diff] exact match in snippet view article find links to article

Davidow LS, Lee JT (2002). "CTCF, a candidate trans-acting factor for X-inactivation choice". Science. 295 (5553): 345–7. doi:10.1126/science.1065982. PMID 11743158

USP9Y (1,018 words) [view diff] exact match in snippet view article find links to article

developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2". Hum. Mol. Genet. 5 (11): 1695–701

UTY (gene) (683 words) [view diff] no match in snippet view article

C, Quaderi N, Siggers P, et al. (April 1998). "The UTX gene escapes X inactivation in mice and humans". Human Molecular Genetics. 7 (4): 737–42. doi:10

Fragile X-associated tremor/ataxia syndrome (1,303 words) [view diff] exact match in snippet view article find links to article

gene mutation have also been found to develop FXTAS. However, due to X-inactivation, female carriers are much less likely to develop dementia or classic

HDHD1A (443 words) [view diff] exact match in snippet view article find links to article

gene from the distal short arm of the human X chromosome that escapes X-inactivation". Human Molecular Genetics. 1 (1): 47–52. doi:10.1093/hmg/1.1.47. PMID 1284467

Ruth Stephens Gani Medal (452 words) [view diff] exact match in snippet view article find links to article

inheritance of phenotypic traits; identified a new gene that regulates X-inactivation, the process by which expression of genes on the X-chromosome is equalised

Ocular albinism type 1 (2,871 words) [view diff] exact match in snippet view article find links to article

women have regions of hypo- and hyper-pigmentation in the fundus due to X-inactivation, and partial iris transillumination. They do not show any other symptoms

Haemophilia (6,819 words) [view diff] no match in snippet view article find links to article

should express itself to produce the necessary clotting factors, due to X inactivation. Therefore, heterozygous females are just carriers of this genetic disposition

ATRX (1,758 words) [view diff] no match in snippet view article find links to article

alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis". American Journal of Human Genetics. 51 (5): 1136–49

TRAPPC2 (1,088 words) [view diff] exact match in snippet view article find links to article

2001). "The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site". Gene. 273 (2): 285–93. doi:10

RBM10 (5,530 words) [view diff] exact match in snippet view article find links to article

gene spans ~41.6 kb and contains 24 exons. This gene is subjected to X-inactivation, in which one of the two RBM10 genes in female cells is transcriptionally

Ocular albinism late onset sensorineural deafness (2,275 words) [view diff] exact match in snippet view article find links to article

mosaicism), which demonstrates random X inactivation. Those with more advanced ocular manifestations due to skewed X-inactivation have reported reduced visual

Homoplasmy (1,320 words) [view diff] exact match in snippet view article find links to article

Mostacciuolo, Maria L.; Howell, Neil; Carelli, Valerio (15 May 2003). "X-inactivation pattern in multiple tissues from two leber's hereditary optic neuropathy

Leber's hereditary optic neuropathy (4,615 words) [view diff] case mismatch in snippet view article find links to article

G, Carelli V, Horvath R, Zeviani M, Smeets HJ, Chinnery PF (2007). "X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary

Pyruvate dehydrogenase (lipoamide) alpha 1 (2,885 words) [view diff] no match in snippet view article

to detect. This is because of the chance that there will be a skewed X inactivation pattern enzyme measurement in fibroblasts, meaning that the enzyme activity

Vesicle-associated membrane protein 7 (1,225 words) [view diff] no match in snippet view article find links to article

synaptobrevin-like gene in the Xq28 pseudoautosomal region undergoes X inactivation". Nat. Genet. 13 (2): 227–9. doi:10.1038/ng0696-227. PMID 8640232. S2CID 8466678

GATA1 (5,512 words) [view diff] no match in snippet view article find links to article

macrothrombocytopenia and anemia and are associated with variable skewed X inactivation" (PDF). Human Molecular Genetics. 11 (2): 147–52. doi:10.1093/hmg/11

Trisomy X (6,932 words) [view diff] exact match in snippet view article find links to article

changes to DNA methylation and gene expression across the entire genome. X-inactivation is never total and around 15% of genes on the second X chromosome are

HIST1H1E (906 words) [view diff] exact match in snippet view article find links to article

underacetylation of histone H4 downstream from promoters is associated with X-inactivation in human cells". Chromosome Res. 10 (7): 579–95. doi:10.1023/A:1020966719605

Histone (9,582 words) [view diff] no match in snippet view article find links to article

link ubiquitylation of histone H2A to heritable gene silencing and X inactivation". Developmental Cell. 7 (5): 663–76. doi:10.1016/j.devcel.2004.10.005

Turner syndrome (9,430 words) [view diff] exact match in snippet view article find links to article

the lack of pseudoautosomal regions, which are typically spared from X-inactivation. In mosaic individuals, cells with X monosomy (45,X) may occur along

NcRNA therapy (5,358 words) [view diff] no match in snippet view article find links to article

Willard, HF (3 January 1991). "A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome". Nature

Xp11.2 duplication (3,270 words) [view diff] no match in snippet view article find links to article

selective inactivation of the normal X chromosome, whereas 3 had random X inactivation. Breakpoints could be identified in 8 individuals. The recurrent duplication

Histone variants (1,465 words) [view diff] exact match in snippet view article find links to article

domain which can bind poly-ADP-ribose. This histone variant is used in X-inactivation and transcriptional regulation. Structures of both domains are available

Transcriptional regulation (6,351 words) [view diff] no match in snippet view article find links to article

link ubiquitylation of histone H2A to heritable gene silencing and X inactivation". Dev. Cell. 7 (5): 663–76. doi:10.1016/j.devcel.2004.10.005. PMID 15525528

Sex-determination system (8,512 words) [view diff] no match in snippet view article find links to article

identical among placental mammals. This is hypothesized to be because the X inactivation means any change would cause serious disruption, thus subjecting it

Andrea Ballabio (1,187 words) [view diff] no match in snippet view article find links to article

Tonlorenzi, R; Willard, R (Jan 1991). "A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome". Nature

Glossary of genetics and evolutionary biology (15,987 words) [view diff] exact match in snippet view article find links to article

same or similar amounts of the products of such genes. An example is X-inactivation in female mammals. ecogeographic isolation ecological allopatry ecological

Creatine transporter defect (1,860 words) [view diff] exact match in snippet view article find links to article

Me; Jakobs, C; van der Knaap, Ms (2011-03-01). "Clinical features and X-inactivation in females heterozygous for creatine transporter defect". Clinical Genetics

HSD17B10 (1,930 words) [view diff] no match in snippet view article find links to article

identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation". Proceedings of the National Academy of Sciences of the United States

Medical genetics of Jews (4,085 words) [view diff] exact match in snippet view article find links to article

Female heterozygotes can also show clinical symptoms due to lyonization (X-inactivation) especially during pregnancy. Inclusion body myopathy Neurology Autosomal

Androgen insensitivity syndrome (12,546 words) [view diff] exact match in snippet view article find links to article

hair, delayed puberty, and/or tall stature, presumably due to skewed X-inactivation. A female carrier will pass the affected AR gene to her children 50%

Topologically associating domain (3,426 words) [view diff] exact match in snippet view article find links to article

(April 2012). "Spatial partitioning of the regulatory landscape of the X-inactivation centre". Nature. 485 (7398): 381–385. Bibcode:2012Natur.485..381N. doi:10

List of human clusters of differentiation (492 words) [view diff] no match in snippet view article find links to article

a gene present on the X chromosome, the CD99 gene does not undergo X inactivation. It is expressed on all leukocytes but highest on thymocytes and is

Croonian Medal (8,968 words) [view diff] exact match in snippet view article find links to article

in X-chromosome biology, including the epigenetic mechanisms behind X-inactivation which are critical for this important part of mammalian biology 2024

Glossary of cellular and molecular biology (0–L) (29,722 words) [view diff] exact match in snippet view article

same or similar amounts of the products of such genes. An example is X-inactivation in female mammals. double helix The shape most commonly assumed by double-stranded

Sex differences in human physiology (9,637 words) [view diff] exact match in snippet view article find links to article

Media. p. 449. ISBN 978-3642753336. Carrel L, Willard HF (March 2005). "X-inactivation profile reveals extensive variability in X-linked gene expression in

Insulated neighborhood (2,487 words) [view diff] exact match in snippet view article find links to article

April 2012). "Spatial partitioning of the regulatory landscape of the X-inactivation centre". Nature. 485 (7398): 381–5. Bibcode:2012Natur.485..381N. doi:10

Whole genome bisulfite sequencing (2,517 words) [view diff] exact match in snippet view article find links to article

cellular processes such as cellular differentiation, embryogenesis, X-inactivation, genomic imprinting, and tumorigenesis. Single-nucleotide maps have

PBDC1 (2,603 words) [view diff] no match in snippet view article find links to article

which plays a role in the inactivation process of the X chromosome. X inactivation relates to CXorf26, and is discussed below in the relevant research

Gian Gaetano Tartaglia (1,773 words) [view diff] exact match in snippet view article find links to article

doi:10.1038/nmeth.1611. PMID 21623348. Agostini, Federico (2013). "X-inactivation: Quantitative Predictions of Protein Interactions in the Xist Network"