Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.

Human genetics - 1 Mar 2017

Bramswig Nuria C, Caluseriu O, Lüdecke H-J, Bolduc F V, Noel N C L, Wieland T, Surowy H M, Christen H-J, Engels H, Strom T M, Wieczorek D

Abstract excerpt

Chromatin remodeling is a complex process shaping the nucleosome landscape, thereby regulating the accessibility of transcription factors to regulatory regions of target genes and ultimately managing gene expression. The SWI/SNF (switch/sucrose nonfermentable) complex remodels the nucleosome landscape in an ATP-dependent manner and is divided into the two major subclasses Brahma-associated factor (BAF) and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Face

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to Hand Deformities, Congenital

Share to Heterozygote

Share to Intellectual Disability

Share to Micrognathism

Source

Identifiers

PMID: 28124119
DOI: 10.1007/s00439-017-1757-z

Genes

ARID2
SMARCA4
SMARCB1
SMARCE1
SOX11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.PMID 28124119Read ↗

ARID2, a milder cause of Coffin-Siris Syndrome? Broadening the phenotype with 17 additional individuals.Semantic proximity Read ↗

Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.Semantic proximity Read ↗

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodelingSemantic proximity Read ↗

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.Semantic proximity Read ↗

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.Semantic proximity Read ↗

Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability DisordersSemantic proximity Read ↗

Mutations in ARID2 are associated with intellectual disabilities.Semantic proximity Read ↗

Numerous BAF complex genes are mutated in Coffin-Siris syndrome.Semantic proximity Read ↗

First data from a parent‐reported registry of 81 individuals with Coffin–Siris syndrome: Natural history and management recommendationsSemantic proximity Read ↗

Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.Semantic proximity Read ↗

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.Semantic proximity Read ↗

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.