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

A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay.

Neuroscience letters - 1 Jul 2011

Santos-Rebouças Cíntia B, Fintelman-Rodrigues Natalia, Jensen Lars R, Kuss Andreas W, Ribeiro Márcia G, Campos Mário, Santos Jussara M, Pimentel Márcia M G

Abstract excerpt

Mutations in the Jumonji AT-rich interactive domain 1C (JARID1C/SMCX/KDM5C) gene, located at Xp11.22, are emerging as frequent causes of X-linked intellectual disability (XLID). KDM5C encodes for a member of an ARID protein family that harbors conserved DNA-binding motifs and acts as a histone H3 lysine 4 demethylase, suggesting a potential role in epigenetic regulation during development, cell growth and...

Read the complete abstract on PubMed

Topics

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

Share to Body Height
Share to Brazil

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Histone Demethylases

Share to Language Development Disorders

Share to Mutation, Missense

Share to Oxidoreductases, N-Demethylating

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to X-Linked Intellectual Disability

Source

Identifiers

PMID: 21575681
DOI: 10.1016/j.neulet.2011.04.065

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay.PMID 21575681Read ↗

A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability.Semantic proximity Read ↗

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.Semantic proximity Read ↗

A novel mutation in JARID1C gene associated with mental retardation.Semantic proximity Read ↗

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.Semantic proximity Read ↗

KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.Semantic proximity Read ↗

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.Semantic proximity Read ↗

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.Semantic proximity Read ↗

WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability.Semantic proximity Read ↗

Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.Semantic proximity Read ↗

Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations.Semantic proximity Read ↗

Mutations in the KDM5C ARID Domain and Their Plausible Association with Syndromic Claes-Jensen-Type Disease.Semantic proximity Read ↗

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.Semantic proximity Read ↗

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