Distinct disease mutations in DNMT3A result in a spectrum of behavioral, epigenetic, and transcriptional deficits

Distinct disease mutations in DNMT3A result in a spectrum of behavioral, epigenetic, and transcriptional deficits

Summary: Phenotypic heterogeneity in monogenic neurodevelopmental disorders can arise from differential severity of variants underlying disease, but how distinct alleles drive variable disease presentation is not well understood. Here, we investigate missense mutations in DNA methyltransferase 3A (D...

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Bibliographic Details
Main Authors: Diana C. Beard, Xiyun Zhang, Dennis Y. Wu, Jenna R. Martin, Alyssa Erickson, Jane Valeriane Boua, Nicole Hamagami, Raylynn G. Swift, Katherine B. McCullough, Xia Ge, Austin Bell-Hensley, Hongjun Zheng, Cory W. Palmer, Nicole A. Fuhler, Austin B. Lawrence, Cheryl A. Hill, Thomas Papouin, Kevin K. Noguchi, Audrey McAlinden, Joel R. Garbow, Joseph D. Dougherty, Susan E. Maloney, Harrison W. Gabel
Format: Article
Language:English
Published: Elsevier 2023-11-01
Series:Cell Reports
Subjects:
CP: Neuroscience
Online Access:http://www.sciencedirect.com/science/article/pii/S2211124723014237

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http://www.sciencedirect.com/science/article/pii/S2211124723014237

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