Associated Papers
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
Cofactors-loaded quaternary structure of lysine-specific demethylase 5C (KDM5C) protein: Computational model.
Peng Y et al.
Proteins, 2016
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
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.
Jensen LR et al.
Pathogenetics, 2010
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 histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.
Tahiliani M et al.
Nature, 2007
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.
Tzschach A et al.
Human Mutation, 2006
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
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