Mutations in JMJD1C are involved in Rett syndrome and intellectual disability.

doi:10.1038/gim.2015.100

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

Community

Back to search

Article

Mutations in JMJD1C are involved in Rett syndrome and intellectual disability.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2016

Sáez Mauricio A, Fernández-Rodríguez Juana, Moutinho Catia, Sanchez-Mut Jose V, Gomez Antonio, Vidal Enrique, Petazzi Paolo, Szczesna Karolina, Lopez-Serra Paula, Lucariello Mario, Lorden Patricia, Delgado-Morales Raul, de la Caridad Olga J, Huertas Dori, Gelpí Josep L, Orozco Modesto, López-Doriga Adriana, Milà Montserrat, Perez-Jurado Luís A, Pineda Mercedes, Armstrong Judith, Lázaro Conxi, Esteller Manel

Abstract excerpt

PURPOSE: Autism spectrum disorders are associated with defects in social response and communication that often occur in the context of intellectual disability. Rett syndrome is one example in which epilepsy, motor impairment, and motor disturbance may co-occur. Mutations in histone demethylases are known to occur in several of these syndromes. Herein, we aimed to identify whether mutations in the candidate...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Motifs

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Autism Spectrum Disorder

Share to Gene Order

Share to Intellectual Disability

Share to Jumonji Domain-Containing Histone Demethylases

Share to Oxidoreductases, N-Demethylating

Share to Position-Specific Scoring Matrices

Share to Rett Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 26181491
DOI: 10.1038/gim.2015.100
PMCID: PMC4823641

Genes

MDC1
MECP2

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 · 10 closest

Mutations in JMJD1C are involved in Rett syndrome and intellectual disability.PMID 26181491Read ↗

Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures.Semantic proximity Read ↗

Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript.Semantic proximity Read ↗

Rare genetic variants in the gene encoding histone lysine demethylase 4C (KDM4C) and their contributions to susceptibility to schizophrenia and autism spectrum disorder.Semantic proximity Read ↗

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

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

Genetic and epigenetic defects in mental retardation.Semantic proximity Read ↗

Rare KDM4C variants and reduced expression underlie epigenetic dysregulation in rheumatoid arthritis.Semantic proximity Read ↗

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

JMJD-1.2 controls multiple histone post-translational modifications in germ cells and protects the genome from replication stress.Semantic proximity Read ↗

Reversal of histone lysine trimethylation by the JMJD2 family of histone demethylases.Semantic proximity Read ↗

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