Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
about
The spectrum of SWI/SNF mutations, ubiquitous in human cancersUnwinding and rewinding: double faces of helicase?A SWI/SNF-related autism syndrome caused by de novo mutations in ADNPGene of the month: SMARCB1A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening.Mammalian SWI/SNF chromatin remodeling complexes and cancer: Mechanistic insights gained from human genomicsMinireview: Conversing with chromatin: the language of nuclear receptorsRole of nucleosome remodeling in neurodevelopmental and intellectual disability disordersMendelian disorders of the epigenetic machinery: tipping the balance of chromatin statesAutism-Associated Chromatin Regulator Brg1/SmarcA4 Is Required for Synapse Development and Myocyte Enhancer Factor 2-Mediated Synapse Remodeling.Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation SyndromesIntellectual Disability: When the Hypertrichosis Is a ClueAkirin2 is essential for the formation of the cerebral cortexDe novo SOX11 mutations cause Coffin-Siris syndromeThe SWI/SNF genetic blockade: effects in cell differentiation, cancer and developmental diseasesEssential Roles for ARID1B in Dendritic Arborization and Spine Morphology of Developing Pyramidal NeuronsKinetic analysis of npBAF to nBAF switching reveals exchange of SS18 with CREST and integration with neural developmental pathwaysPrioritizing protein complexes implicated in human diseases by network optimizationAnnotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human diseaseA 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 geneDe Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive DysmorphismsMutations in ARID2 are associated with intellectual disabilities.The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors.Chimeric Genes in Deletions and Duplications Associated with Intellectual DisabilityFrom neural development to cognition: unexpected roles for chromatin.Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.An ENU mutagenesis screen identifies novel and known genes involved in epigenetic processes in the mousePancreatic cancer genomics: insights and opportunities for clinical translationDe novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases.Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment.Polycomb and trithorax opposition in development and disease.Transcriptional regulation and its misregulation in disease.Disruption of an EHMT1-associated chromatin-modification module causes intellectual disabilityCancer genetics and epigenetics: two sides of the same coin?The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.The promise of whole-exome sequencing in medical genetics.Clinical whole-exome sequencing for the diagnosis of mendelian disorders.Duplication of C7orf58, WNT16 and FAM3C in an obese female with a t(7;22)(q32.1;q11.2) chromosomal translocation and clinical features resembling Coffin-Siris Syndrome.
P2860
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P2860
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
description
2012 nî lūn-bûn
@nan
2012 թուականի Մարտին հրատարակուած գիտական յօդուած
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2012 թվականի մարտին 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
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
@ast
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
@en
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
@nl
type
label
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
@ast
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
@en
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
@nl
prefLabel
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
@ast
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
@en
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
@en
P2093
Hirofumi Ohashi
Hiroshi Doi
Hiroshi Kawame
Ippei Okada
Kazuhiro Ogata
Keiko Wakui
Kenji Naritomi
Masaaki Shiina
Naomichi Matsumoto
Nobuhiko Okamoto
P2860
P2888
P3181
P356
10.1038/NG.2219
P407
P577
2012-03-18T00:00:00Z