De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay-Reference-Cited by-同舟云学术

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

Published:2015-03 Issue:3 Volume:96 Page:498-506
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Arboleda Valerie A.,Lee Hane,Dorrani Naghmeh,Zadeh Neda,Willis Mary,Macmurdo Colleen Forsyth,Manning Melanie A.,Kwan Andrea,Hudgins Louanne,Barthelemy Florian,Miceli M. Carrie,Quintero-Rivera Fabiola,Kantarci Sibel,Strom Samuel P.,Deignan Joshua L.,Grody Wayne W.,Vilain Eric,Nelson Stanley F.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference46 articles.

1. Chromatin dynamics from S-phase to mitosis: contributions of histone modifications;Doenecke;Cell Tissue Res.,2014

2. The histone methyltransferase Dot1/DOT1L as a critical regulator of the cell cycle;Kim;Cell Cycle,2014

3. Polycomb- and REST-associated histone deacetylases are independent pathways toward a mature neuronal phenotype;McGann;eLife,2014

4. The involvement of DNA methylation and histone modification on the epigenetic regulation of embryonic stem cells and induced pluripotent stem cells;Leung;Curr. Stem Cell Res. Ther.,2014

5. MOZ and MORF, two large MYSTic HATs in normal and cancer stem cells;Yang;Oncogene,2007

Cited by 115 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature;The American Journal of Human Genetics;2024-07

2. Diagnosis of Arboleda‐Tham syndrome by whole‐exome sequencing in an Asian girl with severe developmental delay;Molecular Genetics & Genomic Medicine;2024-05

3. Lysine acetyltransferase 6A maintains CD4+ T cell response via epigenetic reprogramming of glucose metabolism in autoimmunity;Cell Metabolism;2024-03

4. ING4 and ING5 are essential for histone H3 lysine 14 acetylation and epicardial cell lineage development;Development;2024-03-01

5. Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome;European Journal of Medical Genetics;2024-02