Associated Papers
KDM5-mediated transcriptional activation of ribosomal protein genes alters translation efficiency to regulate mitochondrial metabolism in neurons.
Yheskel M et al.
Nucleic Acids Research, 2024
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
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
Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures.
Poeta L et al.
Genes, 2021
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
Histone demethylase JARID1C inactivation triggers genomic instability in sporadic renal cancer.
Rondinelli B et al.
The Journal of Clinical Investigation, 2015
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
The involvement of epigenetic defects in mental retardation.
Franklin TB et al.
Neurobiology of Learning and Memory, 2011
Structural insight into histone recognition by the ING PHD fingers.
Champagne KS et al.
Current Drug Targets, 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
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
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