Does the HSD17B10 gene escape from X-inactivation?
作者信息
He Xue-Ying, Dobkin Carl, Yang Song-Yu
出版信息
Eur J Hum Genet. 2011 Feb;19(2):123-4; author reply 124. doi: 10.1038/ejhg.2010.192. Epub 2010 Nov 17.
Abstract
摘要
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Does the HSD17B10 gene escape from X-inactivation?
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本文引用的文献
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X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.
Eur J Hum Genet. 2010 Dec;18(12):1353-5. doi: 10.1038/ejhg.2010.118. Epub 2010 Jul 28.
2
Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.
Proc Natl Acad Sci U S A. 2009 Sep 1;106(35):14820-4. doi: 10.1073/pnas.0902377106. Epub 2009 Aug 17.
3
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.
Am J Hum Genet. 2008 Feb;82(2):432-43. doi: 10.1016/j.ajhg.2007.11.002. Epub 2008 Jan 24.
4
HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids.
Mol Genet Metab. 2007 Sep-Oct;92(1-2):36-42. doi: 10.1016/j.ymgme.2007.06.001. Epub 2007 Jul 6.
5
X-inactivation profile reveals extensive variability in X-linked gene expression in females.
Nature. 2005 Mar 17;434(7031):400-4. doi: 10.1038/nature03479.
6
Chromosomal basis of X chromosome inactivation: identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation.
Proc Natl Acad Sci U S A. 1998 Jul 21;95(15):8709-14. doi: 10.1073/pnas.95.15.8709.
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