De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay
about
ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53Regulation of KAT6 Acetyltransferases and Their Roles in Cell Cycle Progression, Stem Cell Maintenance, and Human DiseaseWhat can Duchenne Connect teach us about treating Duchenne muscular dystrophy?Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone AcetylationThe chromatin regulator Brpf1 regulates embryo development and cell proliferationBivalent interaction of the PZP domain of BRPF1 with the nucleosome impacts chromatin dynamics and acetylation.The Chromatin Regulator BRPF3 Preferentially Activates the HBO1 Acetyltransferase but Is Dispensable for Mouse Development and Survival.Clinical exome sequencing in neurogenetic and neuropsychiatric disordersBRPF1 is essential for development of fetal hematopoietic stem cellsRegulation and role of post-translational modifications of enhancer of zeste homologue 2 in cancer developmentLysine Acetylation and Deacetylation in Brain Development and NeuropathiesThe role of post-translational modifications in hearing and deafness.Identification and Function of Enhancers in the Human Genome.Food allergy in a child with de novo KAT6A mutation.Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated PtosisScreening of nucleotide variations in genomic sequences encoding charged protein regions in the human genome.Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features.Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.Quantification of Phenotype Information Aids the Identification of Novel Disease Genes.Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.Calculating the statistical significance of rare variants causal for Mendelian and complex disorders.
P2860
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P2860
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay
description
2015 nî lūn-bûn
@nan
2015 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
De novo nonsense mutations in ...... and global developmental delay
@ast
De novo nonsense mutations in ...... and global developmental delay
@en
type
label
De novo nonsense mutations in ...... and global developmental delay
@ast
De novo nonsense mutations in ...... and global developmental delay
@en
prefLabel
De novo nonsense mutations in ...... and global developmental delay
@ast
De novo nonsense mutations in ...... and global developmental delay
@en
P2093
P2860
P1476
De novo nonsense mutations in ...... and global developmental delay
@en
P2093
Andrea Kwan
Colleen Forsyth Macmurdo
Eric Vilain
Fabiola Quintero-Rivera
Joshua L Deignan
Louanne Hudgins
M Carrie Miceli
Mary Willis
Melanie A Manning
P2860
P304
P356
10.1016/J.AJHG.2015.01.017
P407
P577
2015-02-26T00:00:00Z