De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

Recently WAC was reported as a candidate gene for intellectual disability (ID) based on the identification of a de novo mutation in an individual with severe ID. WAC regulates transcription-coupled histone H2B ubiquitination and has previously been implicated in the 10p12p11 contiguous gene deletion...

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Vydáno v:Eur J Hum Genet
Hlavní autoři: Lugtenberg, Dorien, Reijnders, Margot R F, Fenckova, Michaela, Bijlsma, Emilia K, Bernier, Raphael, van Bon, Bregje W M, Smeets, Eric, Vulto-van Silfhout, Anneke T, Bosch, Danielle, Eichler, Evan E, Mefford, Heather C, Carvill, Gemma L, Bongers, Ernie M H F, Schuurs-Hoeijmakers, Janneke HM, Ruivenkamp, Claudia A, Santen, Gijs W E, van den Maagdenberg, Arn M J M, Peeters-Scholte, Cacha M P C D, Kuenen, Sabine, Verstreken, Patrik, Pfundt, Rolph, Yntema, Helger G, de Vries, Petra F, Veltman, Joris A, Hoischen, Alexander, Gilissen, Christian, de Vries, Bert B A, Schenck, Annette, Kleefstra, Tjitske, Vissers, Lisenka E L M
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2016
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4970694/
https://ncbi.nlm.nih.gov/pubmed/26757981
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.282
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