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

Novel KDM5B splice variants identified in patients with developmental disorders: Functional consequences.

Gene - 30 Dec 2018

Lebrun Nicolas, Mehler-Jacob Claire, Poirier Karine, Zordan Cecile, Lacombe Didier, Carion Nathalie, Billuart Pierre, Bienvenu Thierry

Abstract excerpt

Histone lysine methylation influences processes such as gene expression and DNA repair. Thirty Jumonji C (JmjC) domain-containing proteins have been identified and phylogenetically clustered into seven subfamilies. Most JmjC domain-containing proteins have been shown to possess histone demethylase activity toward specific histone methylation marks. One of these subfamilies, the KDM5 family, is characterized by...

Read the complete abstract on PubMed

Topics

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

Share to Alternative Splicing
Share to Autism Spectrum Disorder

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to Down-Regulation

Share to Haploinsufficiency

Share to Intellectual Disability

Share to Jumonji Domain-Containing Histone Demethylases

Share to Repressor Proteins

Source

Identifiers

PMID: 30217758
DOI: 10.1016/j.gene.2018.09.016

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel KDM5B splice variants identified in patients with developmental disorders: Functional consequences.PMID 30217758Read ↗

Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.Semantic proximity Read ↗

A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.Semantic proximity Read ↗

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.Semantic proximity Read ↗

Neurodevelopmental disorder caused by an inherited novel KMT5B variant: case report.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 ↗

Human phenotype caused by biallelic KDM4B frameshift variant.Semantic proximity Read ↗

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.Semantic proximity Read ↗

A Novel De Novo KDM3B Variant in the Youngest Reported Male Patient With Diets-Jongmans Syndrome and Facial Asymmetry.Semantic proximity Read ↗

De novo variants in<i>KDM2A</i>cause a syndromic neurodevelopmental disorderSemantic proximity Read ↗

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

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.Semantic proximity Read ↗

Caregiver-reported characteristics of children diagnosed with pathogenic variants in KDM5C.Semantic proximity Read ↗

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