Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations in the KDM5C ARID Domain and Their Plausible Association with Syndromic Claes-Jensen-Type Disease.

International journal of molecular sciences - 13 Nov 2015

Peng Yunhui, Suryadi Jimmy, Yang Ye, Kucukkal Tugba G, Cao Weiguo, Alexov Emil

Abstract excerpt

Mutations in KDM5C gene are linked to X-linked mental retardation, the syndromic Claes-Jensen-type disease. This study focuses on non-synonymous mutations in the KDM5C ARID domain and evaluates the effects of two disease-associated missense mutations (A77T and D87G) and three not-yet-classified missense mutations (R108W, N142S, and R179H). We predict the ARID domain's folding and binding free energy changes due...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Conserved Sequence
Share to Histone Demethylases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Protein Denaturation

Share to Protein Folding

Share to Protein Interaction Domains and Motifs

Share to Structure-Activity Relationship

Share to X-Linked Intellectual Disability

Source

Open in PubMed Open full text

Identifiers

PMID: 26580603
DOI: 10.3390/ijms161126022
PMCID: PMC4661880

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the KDM5C ARID Domain and Their Plausible Association with Syndromic Claes-Jensen-Type Disease.PMID 26580603Read ↗

Cofactors-loaded quaternary structure of lysine-specific demethylase 5C (KDM5C) protein: Computational model.Semantic proximity Read ↗

A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay.Semantic proximity Read ↗

ARID1B damaging variants from more than one million genomes, cause human diseases by impairing protein-protein interactions, stability, and regulationSemantic proximity Read ↗

The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregationSemantic proximity Read ↗

A Multi-Layered Computational Structural Genomics Approach Enhances Domain-Specific Interpretation of Kleefstra Syndrome Variants in EHMT1Semantic proximity Read ↗

The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation.Semantic proximity Read ↗

Congenital heart disease missense mutations in the TBX5 DNA-binding domain alter thermal stability and DNA-binding affinitySemantic proximity Read ↗

Computational insights into NIMA-related kinase 6: unraveling mutational effects on structure and function.Semantic proximity Read ↗

ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study.Semantic proximity Read ↗

Impact of Frequent ARID1A Mutations on Protein Stability: Insights into Cancer PathogenesisSemantic proximity Read ↗

Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.Semantic proximity Read ↗

Disease-causing mutation in extracellular and intracellular domain of FGFR1 protein: computational approach.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.