Associated Papers
Diagnosing the silent: the molecular landscape of non-functional parathyroid carcinoma.
Jentus MM et al.
Virchows Archiv : an International Journal of Pathology, 2025
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
A novel KDM5C mutation associated with intellectual disability: molecular mechanisms and clinical implications.
Meng Y et al.
Italian Journal of Pediatrics, 2025
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
39835750 (PubMed )
Supplement: MGG3-13-e70057-s001.xlsx › stop_gain
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
37010288 (PubMed )
Supplement: supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx › S4
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
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
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
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
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