Associated Papers
Individuals with reported and novel KDM5C variants present with seizures, a feature recapitulated in a Drosophila model.
Terry BK et al.
Human Molecular Genetics, 2026
Individuals with reported and novel KDM5C variants present with seizures, a feature recapitulated in a Drosophila model.
Terry BK et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
Leonardi E et al.
European Journal of Human Genetics : Ejhg, 2023
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
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
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM et al.
Clinical Epigenetics, 2019
31685013 (PubMed )
Supplement: 13148_2019_749_MOESM5_ESM.xlsx › Sheet1
Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C.
Schenkel LC et al.
Clinical Epigenetics, 2018
Cofactors-loaded quaternary structure of lysine-specific demethylase 5C (KDM5C) protein: Computational model.
Peng Y et al.
Proteins, 2016
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
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.
Grafodatskaya D et al.
Bmc Medical Genomics, 2013
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
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