Associated Papers
Local chromatin context informs transcriptional outcomes for the histone demethylase KDM5.
Yheskel M et al.
Epigenetics & Chromatin, 2025
The histone demethylase KDM5 has insulator activity in the brain.
Yheskel M et al.
Biorxiv : the Preprint Server for Biology, 2024
Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes-Jensen syndrome.
Hatch HAM et al.
The Febs Journal, 2022
A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report.
Lippa NC et al.
Bmc Neurology, 2021
The histone demethylase KDM5 is required for synaptic structure and function at the Drosophila neuromuscular junction.
Belalcazar HM et al.
Cell Reports, 2021
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.
Carmignac V et al.
Clinical Genetics, 2020
Cofactors-loaded quaternary structure of lysine-specific demethylase 5C (KDM5C) protein: Computational model.
Peng Y et al.
Proteins, 2016
Mutations in the KDM5C ARID Domain and Their Plausible Association with Syndromic Claes-Jensen-Type Disease.
Peng Y et al.
International Journal of Molecular Sciences, 2015
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.
Brookes E et al.
Human Molecular Genetics, 2015
KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.
Gonçalves TF et al.
European Journal of Medical Genetics, 2014
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.
Rujirabanjerd S et al.
European Journal of Human Genetics : Ejhg, 2010
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.
Abidi F et al.
Human Genetics, 2009
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.
Abidi F et al.
Human Genetics, 2009
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.
Abidi F et al.
Human Genetics, 2009
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
Abidi FE et al.
Journal of Medical Genetics, 2008
A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD).
Adegbola A et al.
American Journal of Medical Genetics. Part A, 2008
The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases.
Iwase S et al.
Cell, 2007
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
de Brouwer AP et al.
Human Mutation, 2007
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.
Tzschach A et al.
Human Mutation, 2006
X-linked mental retardation: further lumping, splitting and emerging phenotypes.
Kleefstra T et al.
Clinical Genetics, 2005
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
Jensen LR et al.
American Journal of Human Genetics, 2005