Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are frequently encountered in individuals with developmental disorders. Using a combination of human variation databases and existi...

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Udgivet i:Am J Hum Genet
Main Authors: Faundes, Víctor, Newman, William G., Bernardini, Laura, Canham, Natalie, Clayton-Smith, Jill, Dallapiccola, Bruno, Davies, Sally J., Demos, Michelle K., Goldman, Amy, Gill, Harinder, Horton, Rachel, Kerr, Bronwyn, Kumar, Dhavendra, Lehman, Anna, McKee, Shane, Morton, Jenny, Parker, Michael J., Rankin, Julia, Robertson, Lisa, Temple, I. Karen, Banka, Siddharth
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2018
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5778085/
https://ncbi.nlm.nih.gov/pubmed/29276005
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.11.013
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