Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome
about
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndromeMendelian disorders of the epigenetic machinery: tipping the balance of chromatin statesDisorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation SyndromesRegulation of KAT6 Acetyltransferases and Their Roles in Cell Cycle Progression, Stem Cell Maintenance, and Human DiseaseAdvances in Skeletal Dysplasia GeneticsNovel KAT6B-KANSL1 fusion gene identified by RNA sequencing in retroperitoneal leiomyoma with t(10;17)(q22;q21)Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone AcetylationDe novo mutations in MLL cause Wiedemann-Steiner syndrome.From neural development to cognition: unexpected roles for chromatin.Concordance analysis for QTL detection in dairy cattle: a case study of leg morphology.Expression atlas of the multivalent epigenetic regulator Brpf1 and its requirement for survival of mouse embryos.De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndromeThe KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanismsThe promise of whole-exome sequencing in medical genetics.Deficiency of the chromatin regulator BRPF1 causes abnormal brain development.The lysine acetyltransferase activator Brpf1 governs dentate gyrus development through neural stem cells and progenitors.The chromatin regulator Brpf1 regulates embryo development and cell proliferationThe Chromatin Regulator BRPF3 Preferentially Activates the HBO1 Acetyltransferase but Is Dispensable for Mouse Development and Survival.Tak1, Smad4 and Trim33 redundantly mediate TGF-β3 signaling during palate development.Further delineation of the KAT6B molecular and phenotypic spectrumDominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delayDe novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.Fibroids: Genotype and Phenotype.Mutations in MED12 cause X-linked Ohdo syndromeAn 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature.BRPF1 is essential for development of fetal hematopoietic stem cellsEpigenetic influence of KAT6B and HDAC4 in the development of skeletal malocclusionCrosstalk between epigenetic readers regulates the MOZ/MORF HAT complexes.Lysine Acetylation and Deacetylation in Brain Development and NeuropathiesA new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.Lysine acetylation: enzymes, bromodomains and links to different diseases.Genetic syndromes caused by mutations in epigenetic genes.Genomic approaches for studying craniofacial disorders.Exome sequencing greatly expedites the progressive research of Mendelian diseases.Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.Crafting the brain - role of histone acetyltransferases in neural development and disease.Chromatin regulators in neurodevelopment and disease: Analysis of fly neural circuits provides insights: Networks of chromatin regulators and transcription factors underlie Drosophila neurogenesis and cognitive defects in intellectual disability and
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P2860
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome
description
2011 nî lūn-bûn
@nan
2011 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Whole-exome-sequencing identif ...... ecker variant of Ohdo syndrome
@ast
Whole-exome-sequencing identif ...... ecker variant of Ohdo syndrome
@en
Whole-exome-sequencing identif ...... ecker variant of Ohdo syndrome
@nl
type
label
Whole-exome-sequencing identif ...... ecker variant of Ohdo syndrome
@ast
Whole-exome-sequencing identif ...... ecker variant of Ohdo syndrome
@en
Whole-exome-sequencing identif ...... ecker variant of Ohdo syndrome
@nl
prefLabel
Whole-exome-sequencing identif ...... ecker variant of Ohdo syndrome
@ast
Whole-exome-sequencing identif ...... ecker variant of Ohdo syndrome
@en
Whole-exome-sequencing identif ...... ecker variant of Ohdo syndrome
@nl
P2093
P2860
P50
P3181
P1476
Whole-exome-sequencing identif ...... ecker variant of Ohdo syndrome
@en
P2093
Alan Fryer
Anne K Voss
Beverley Anderson
Bronwyn Kerr
Dian Donnai
Elizabeth Sweeney
James O'Sullivan
Janine Smith
Kate E Chandler
May Tassabehji
P2860
P304
P3181
P356
10.1016/J.AJHG.2011.10.008
P407
P577
2011-11-11T00:00:00Z