The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms
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Regulation of KAT6 Acetyltransferases and Their Roles in Cell Cycle Progression, Stem Cell Maintenance, and Human DiseaseNovel KAT6B-KANSL1 fusion gene identified by RNA sequencing in retroperitoneal leiomyoma with t(10;17)(q22;q21)Epigenetic regulation in the inner ear and its potential roles in development, protection, and regeneration.De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.Osthole improves function of periodontitis periodontal ligament stem cells via epigenetic modification in cell sheets engineering.Deficiency of the chromatin regulator BRPF1 causes abnormal brain development.Further delineation of the KAT6B molecular and phenotypic spectrumDe novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delayHcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expressionGenetic syndromes caused by mutations in epigenetic genes.Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated PtosisIdentifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a FamilyDe novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome.A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome.De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome.Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.Management of Patella Dislocation in Say-Barber-Biesecker-Young-Simpson's Syndrome: A Report of Two Cases.Genitopatellar syndrome: the first reported case in Japan.De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome
P2860
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P2860
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms
description
2012 nî lūn-bûn
@nan
2012 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
The KAT6B-related disorders ge ...... distinct molecular mechanisms
@ast
The KAT6B-related disorders ge ...... distinct molecular mechanisms
@en
The KAT6B-related disorders ge ...... distinct molecular mechanisms
@nl
type
label
The KAT6B-related disorders ge ...... distinct molecular mechanisms
@ast
The KAT6B-related disorders ge ...... distinct molecular mechanisms
@en
The KAT6B-related disorders ge ...... distinct molecular mechanisms
@nl
prefLabel
The KAT6B-related disorders ge ...... distinct molecular mechanisms
@ast
The KAT6B-related disorders ge ...... distinct molecular mechanisms
@en
The KAT6B-related disorders ge ...... distinct molecular mechanisms
@nl
P2093
P2860
P356
P1433
P1476
The KAT6B-related disorders ge ...... distinct molecular mechanisms
@en
P2093
Brendan H Lee
Brian C Dawson
Ivo F A C Fokkema
James T Lu
Richard A Gibbs
P2860
P304
P356
10.1002/HUMU.22141
P577
2012-07-12T00:00:00Z