SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.
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Role of nucleosome remodeling in neurodevelopmental and intellectual disability disordersDe Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive DysmorphismsImpact of microRNA-130a on the neutrophil proteomeRealizing the promise of cancer predisposition genes.Transcriptional regulation and its misregulation in disease.Functional Interplay of Two Paralogs Encoding SWI/SNF Chromatin-Remodeling Accessory Subunits During Caenorhabditis elegans DevelopmentThe SWI/SNF chromatin remodeling complex selectively affects multiple aspects of serotonergic neuron differentiation.Creating a neural specific chromatin landscape by npBAF and nBAF complexes.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.The ARID1B phenotype: what we have learned so far.Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.General Anesthesia and Young Brain: What is New?A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment.The Swi3 protein plays a unique role in regulating respiration in eukaryotes.ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndromeDNA repair goes hip-hop: SMARCA and CHD chromatin remodellers join the break dance.A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype CorrelationCoffin-Siris syndrome is a SWI/SNF complex disorder.TOP2 synergizes with BAF chromatin remodeling for both resolution and formation of facultative heterochromatin.Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.A SMARCD2-containing mSWI/SNF complex is required for granulopoiesis.Nicolaides-Baraitser syndrome: defining a phenotype.[Pathogenesis and molecular pathology of vestibular schwannoma].The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes.Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.Distal 22q11.2 Microduplication: Case Report and Review of the Literature.Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes
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SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.
description
article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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artigo científico
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artikel ilmiah
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artikull shkencor
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artículo científico
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name
SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.
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type
label
SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.
@en
prefLabel
SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.
@en
P2093
P2860
P921
P356
P1433
P1476
SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.
@en
P2093
Gijs W E Santen
Haico van Attikum
Marjolein Kriek
P2860
P304
P356
10.4161/EPI.22299
P5008
P577
2012-09-25T00:00:00Z
2012-11-01T00:00:00Z