Article
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
American journal of human genetics - 5 Oct 2017
Stankiewicz Paweł, Khan Tahir N, Szafranski Przemyslaw, Slattery Leah, Streff Haley, Vetrini Francesco, Bernstein Jonathan A, Brown Chester W, Rosenfeld Jill A, Rednam Surya, Scollon Sarah, Bergstrom Katie L, Parsons Donald W, Plon Sharon E, Vieira Marta W, Quaio Caio R D C, Baratela Wagner A R, Acosta Guio Johanna C, Armstrong Ruth, Mehta Sarju G, Rump Patrick, Pfundt Rolph, Lewandowski Raymond, Fernandes Erica M, Shinde Deepali N, Tang Sha, Hoyer Juliane, Zweier Christiane, Reis André, Bacino Carlos A, Xiao Rui, Breman Amy M, Smith Janice L, Katsanis Nicholas, Bostwick Bret, Popp Bernt, Davis Erica E, Yang Yaping
Abstract excerpt
Bromodomain PHD finger transcription factor (BPTF) is the largest subunit of nucleosome remodeling factor (NURF), a member of the ISWI chromatin-remodeling complex. However, the clinical consequences of disruption of this complex remain largely uncharacterized. BPTF is required for anterior-posterior axis formation of the mouse embryo and was shown to promote posterior neuroectodermal fate by enhancing...
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