Associated Papers
Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype-Genotype Correlations From 175 Previous Cases and Identification of a Novel Variant.
Ghasemi MR et al.
Molecular Genetics & Genomic Medicine, 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
Chromatin Sensing by the Auxiliary Domains of KDM5C Regulates Its Demethylase Activity and Is Disrupted by X-linked Intellectual Disability Mutations.
Ugur FS et al.
Journal of Molecular Biology, 2023
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations.
Lintas C et al.
Genes, 2022
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
Novel Variations in the KDM5C Gene Causing X-Linked Intellectual Disability.
Wu PM et al.
Neurology. Genetics, 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
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 Drosophila Model of Intellectual Disability Caused by Mutations in the Histone Demethylase KDM5.
Zamurrad S et al.
Cell Reports, 2018
Cofactors-loaded quaternary structure of lysine-specific demethylase 5C (KDM5C) protein: Computational model.
Peng Y et al.
Proteins, 2016
Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells.
Wei G et al.
Journal of Molecular Neuroscience : Mn, 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
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