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Article

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

European journal of medical genetics - 1 Mar 2014

Gonçalves Thainá Fernandez, Gonçalves Andressa Pereira, Fintelman Rodrigues Natalia, dos Santos Jussara Mendonça, Pimentel Márcia Mattos Gonçalves, Santos-Rebouças Cíntia Barros

Abstract excerpt

An increasing number of neurodevelopmental diseases have been associated with disruption of chromatin remodeling in eukaryotes. Lysine(K)-specific demethylase 5C (KDM5C) is a versatile epigenetic regulator that removes di- and tri-methyl groups of lysine 4 on histone H3 (H3K4) from transcriptional targets and is essential for neuronal survival and dendritic growth. Mutations in KDM5C gene, located at Xp11.22,...

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PMID: 24583395
DOI: 10.1016/j.ejmg.2014.02.011

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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.

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