Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature
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A SWI/SNF-related autism syndrome caused by de novo mutations in ADNPDe novo SOX11 mutations cause Coffin-Siris syndromeA de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterationsCoffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B geneIdentification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactions.The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.Heat shock alters the expression of schizophrenia and autism candidate genes in an induced pluripotent stem cell model of the human telencephalonOpposing calcium-dependent signalling pathways control skeletal muscle differentiation by regulating a chromatin remodelling enzymeDisruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDNon-targeted metabolomics of Brg1/Brm double-mutant cardiomyocytes reveals a novel role for SWI/SNF complexes in metabolic homeostasis.The SWI/SNF BAF-A complex is essential for neural crest developmentSWI/SNF chromatin-remodeling complexes in cardiovascular development and disease.Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.Phenotype and genotype in Nicolaides-Baraitser syndrome.Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome.Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature.Epigenetics of the failing heart.Biology and Treatment of Rhabdoid Tumor.SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic typeThe developmental and pathogenic roles of BAF57, a special subunit of the BAF chromatin-remodeling complex.A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment.Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders.Recruitment by the Repressor Freud-1 of Histone Deacetylase-Brg1 Chromatin Remodeling Complexes to Strengthen HTR1A Gene Repression.A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways.Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.BRG1 and BRM function antagonistically with c-MYC in adult cardiomyocytes to regulate conduction and contractility.Numerous BAF complex genes are mutated in Coffin-Siris syndrome.Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.Hypomethylation and decreased expression of BRG1 in the myocardium of patients with congenital heart disease.Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders
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P2860
Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature
description
article
@en
im Juni 2013 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в червні 2013
@uk
name
Clinical correlations of mutat ...... and a review of the literature
@en
Clinical correlations of mutat ...... and a review of the literature
@nl
type
label
Clinical correlations of mutat ...... and a review of the literature
@en
Clinical correlations of mutat ...... and a review of the literature
@nl
prefLabel
Clinical correlations of mutat ...... and a review of the literature
@en
Clinical correlations of mutat ...... and a review of the literature
@nl
P2093
P2860
P50
P356
P1476
Clinical correlations of mutat ...... and a review of the literature
@en
P2093
Hirofumi Ohashi
Hiroshi Kawame
Keiko Wakui
Kenji Naritomi
Naomichi Matsumoto
Nobuhiko Okamoto
Noriko Miyake
Norio Niikawa
Saori Tanabe
Satoko Miyatake
P2860
P304
P356
10.1002/AJMG.A.35933
P407
P577
2013-06-01T00:00:00Z