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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
MeSH Review

X Chromosome Inactivation

 
 
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Disease relevance of X Chromosome Inactivation

 

Psychiatry related information on X Chromosome Inactivation

  • An 806delG deletion causing a V288X stop in the transcription-repression domain was identified in a woman with motor-coordination problems, mild learning disability, and skewed X inactivation; in her sister and daughter, who were affected with classic RTT; and in her hemizygous son, who died from congenital encephalopathy [6].
  • We report on deletion mapping and X inactivation analysis of a gene for X linked non-specific mental retardation (MRX) at Xp21.3-Xp22.11, on the basis of molecular studies in two families with Xp microdeletions involving the DAX-1 gene [7].
  • Girls with Rett syndrome exhibit mosaic expression for the MeCP2 defect at the cellular level, with most patients showing random X-inactivation and approximately equal numbers of cells expressing the normal MeCP2 gene and the mutated MeCP2 gene [8].
 

High impact information on X Chromosome Inactivation

  • Using a Cre-loxP system, we generated knockout animals lacking Ofd1 and reproduced the main features of the disease, albeit with increased severity, possibly owing to differences of X inactivation patterns between human and mouse [9].
  • Moreover, we suggest that the KAL1 gene product, the extracellular matrix protein anosmin-1, is involved in FGF signaling and propose that the gender difference in anosmin-1 dosage (because KAL1 partially escapes X inactivation) explains the higher prevalence of the disease in males [10].
  • Homozygous Tsix mutant mice reveal a sex-ratio distortion and revert to random X-inactivation [11].
  • The gene Xist initiates the chromosomal silencing process of X inactivation in mammals [12].
  • X inactivation of the OCNC1 channel gene reveals a role for activity-dependent competition in the olfactory system [13].
 

Chemical compound and disease context of X Chromosome Inactivation

 

Biological context of X Chromosome Inactivation

 

Anatomical context of X Chromosome Inactivation

 

Associations of X Chromosome Inactivation with chemical compounds

 

Gene context of X Chromosome Inactivation

 

Analytical, diagnostic and therapeutic context of X Chromosome Inactivation

References

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  12. Chromosomal silencing and localization are mediated by different domains of Xist RNA. Wutz, A., Rasmussen, T.P., Jaenisch, R. Nat. Genet. (2002) [Pubmed]
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  17. A human pseudoautosomal gene, ADP/ATP translocase, escapes X-inactivation whereas a homologue on Xq is subject to X-inactivation. Schiebel, K., Weiss, B., Wöhrle, D., Rappold, G. Nat. Genet. (1993) [Pubmed]
  18. Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome. Fisher, E.M., Beer-Romero, P., Brown, L.G., Ridley, A., McNeil, J.A., Lawrence, J.B., Willard, H.F., Bieber, F.R., Page, D.C. Cell (1990) [Pubmed]
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