SWI/SNF complex in disorder

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

(2015) Katrina Tatton-Brown et al.   Oncotarget

Histone modification defects in developmental disorders and cancer

(2015)   Oncotarget

Haploinsufficiency of ARID1B , a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

(2012) Juliane Hoyer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SRG3/mBAF155 stabilizes the SWI/SNF-like BAF complex by blocking CHFR mediated ubiquitination and degradation of its major components

(2012) Inkyung Jung et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Loss of ARID1A/BAF250a-expression in endometriosis: a biomarker for risk of carcinogenic transformation?

(2012) Eleftherios P Samartzis et al.   MODERN PATHOLOGY

Novel mutations target distinct subgroups of medulloblastoma

(2012) Giles Robinson et al.   NATURE

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

(2012) Gijs W E Santen et al.   NATURE GENETICS

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

(2012) Jeroen K J Van Houdt et al.   NATURE GENETICS

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

(2012) Yoshinori Tsurusaki et al.   NATURE GENETICS

Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes

(2012) Zhi Jiang Zang et al.   NATURE GENETICS

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

(2012) Miriam J. Smith et al.   NEUROGENETICS

Mutations in EZH2 Cause Weaver Syndrome

(2011) William T. Gibson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification and characterization of novel potentially oncogenic mutations in the human BAF57 gene in a breast cancer patient

(2011) M. Ángeles Villaronga et al.   BREAST CANCER RESEARCH AND TREATMENT

ARID1A, a Factor That Promotes Formation of SWI/SNF-Mediated Chromatin Remodeling, Is a Tumor Suppressor in Gynecologic Cancers

(2011) B. Guan et al.   CANCER RESEARCH

Dynamics of expression of ARID1A and ARID1B subunits in mouse embryos and in cells during the cell cycle

(2011) Angel Flores-Alcantar et al.   CELL AND TISSUE RESEARCH

ATP-dependent chromatin remodeling: genetics, genomics and mechanisms

(2011) Diana C Hargreaves et al.   CELL RESEARCH

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

(2011) C Halgren et al.   CLINICAL GENETICS

Identification of a core member of the SWI/SNF complex, BAF155/SMARCC1, as a human tumor suppressor gene

(2011) Jessica DelBove et al.   Epigenetics

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

(2011) Alexander Hoischen et al.   NATURE GENETICS

Exome sequencing identifies frequent mutation of ARID1A in molecular subtypes of gastric cancer

(2011) Kai Wang et al.   NATURE GENETICS

InterPro in 2011: new developments in the family and domain prediction database

(2011) S. Hunter et al.   NUCLEIC ACIDS RESEARCH

Reorganizing the protein space at the Universal Protein Resource (UniProt)

(2011)   NUCLEIC ACIDS RESEARCH

Unlocking Mendelian disease using exome sequencing

(2011) Christian Gilissen et al.   GENOME BIOLOGY

Germline Nonsense Mutation and Somatic Inactivation of SMARCA4/BRG1 in a Family with Rhabdoid Tumor Predisposition Syndrome

(2010) Reinhard Schneppenheim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Role for BAF57 in Cell Cycle–Dependent Transcriptional Regulation by the SWI/SNF Chromatin Remodeling Complex

(2010) Nasun Hah et al.   CANCER RESEARCH

A Balanced Translocation t(6;14)(q25.3;q13.2) Leading to Reciprocal Fusion Transcripts in a Patient with Intellectual Disability and Agenesis of Corpus Callosum

(2010) L. Backx et al.   CYTOGENETIC AND GENOME RESEARCH

ARID1AMutations in Endometriosis-Associated Ovarian Carcinomas

(2010) Kimberly C. Wiegand et al.   NEW ENGLAND JOURNAL OF MEDICINE

An embryonic stem cell chromatin remodeling complex, esBAF, is an essential component of the core pluripotency transcriptional network

(2009) L. Ho et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Fission yeast SWI/SNF and RSC complexes show compositional and functional differences from budding yeast

(2008) Brendon J Monahan et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY