Literature DB >> 21081971

Does the HSD17B10 gene escape from X-inactivation?

Xue-Ying He, Carl Dobkin, Song-Yu Yang.   

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Year:  2010        PMID： 21081971      PMCID： PMC3025801          DOI： 10.1038/ejhg.2010.192

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  6 in total

1.  X-inactivation profile reveals extensive variability in X-linked gene expression in females.

Authors:  Laura Carrel; Huntington F Willard
Journal:  Nature       Date:  2005-03-17       Impact factor: 49.962

2.  X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.

Authors:  Judit García-Villoria; Laura Gort; Irene Madrigal; Carme Fons; Cristina Fernández; Aleix Navarro-Sastre; Montserrat Milà; Paz Briones; Angeles García-Cazorla; Jaume Campistol; Antonia Ribes
Journal:  Eur J Hum Genet       Date:  2010-07-28       Impact factor: 4.246

3.  Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.

Authors:  Song-Yu Yang; Xue-Ying He; Simon E Olpin; Vernon R Sutton; Joe McMenamin; Manfred Philipp; Robert B Denman; Mazhar Malik
Journal:  Proc Natl Acad Sci U S A       Date:  2009-08-17       Impact factor: 11.205

Review 4.  HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids.

Authors:  Song-Yu Yang; Xue-Ying He; David Miller
Journal:  Mol Genet Metab       Date:  2007-07-06       Impact factor: 4.797

5.  Chromosomal basis of X chromosome inactivation: identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation.

Authors:  A P Miller; H F Willard
Journal:  Proc Natl Acad Sci U S A       Date:  1998-07-21       Impact factor: 11.205

6.  Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

Authors:  Guy Froyen; Mark Corbett; Joke Vandewalle; Irma Jarvela; Owen Lawrence; Cliff Meldrum; Marijke Bauters; Karen Govaerts; Lucianne Vandeleur; Hilde Van Esch; Jamel Chelly; Damien Sanlaville; Hans van Bokhoven; Hans-Hilger Ropers; Frederic Laumonnier; Enzo Ranieri; Charles E Schwartz; Fatima Abidi; Patrick S Tarpey; P Andrew Futreal; Annabel Whibley; F Lucy Raymond; Michael R Stratton; Jean-Pierre Fryns; Rodney Scott; Maarit Peippo; Marjatta Sipponen; Michael Partington; David Mowat; Michael Field; Anna Hackett; Peter Marynen; Gillian Turner; Jozef Gécz
Journal:  Am J Hum Genet       Date:  2008-01-24       Impact factor: 11.025
  6 in total
  2 in total

1.  A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.

Authors:  Laurie H Seaver; Xue-Ying He; Keith Abe; Tina Cowan; Gregory M Enns; Lawrence Sweetman; Manfred Philipp; Sansan Lee; Mazhar Malik; Song-Yu Yang
Journal:  PLoS One       Date:  2011-11-22       Impact factor: 3.240

2.  Transcription start sites and epigenetic analysis of the HSD17B10 proximal promoter.

Authors:  Song-Yu Yang; Carl Dobkin; Xue-Ying He; W Ted Brown
Journal:  BMC Biochem       Date:  2013-07-08       Impact factor: 4.059
  2 in total

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