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

Gender and cell-type-specific effects of the transcription-coupled repair protein, ERCC6/CSB, on repeat expansion in a mouse model of the fragile X-related disorders.

Human mutation - 1 Mar 2014

Zhao Xiao-Nan, Usdin Karen

Abstract excerpt

The repeat expansion diseases are human genetic disorders that arise from the expansion of a tandem-repeat tract. The Fragile X-related disorders are members of this disease group in which the repeat unit is CGG/CCG and is located in the 5′ untranslated region of the FMR1 gene. Affected individuals often show mosaicism with respect to repeat number resulting from both expansion and contraction of the repeat...

Read the complete abstract on PubMed

Topics

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

Share to 5' Untranslated Regions
Share to DNA Repair

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Repair Enzymes

Share to DNA Repeat Expansion

Share to Fragile X Mental Retardation Protein

Share to Fragile X Syndrome

Share to Poly-ADP-Ribose Binding Proteins

Share to Sex Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 24352881
DOI: 10.1002/humu.22495
PMCID: PMC4067466

Genes

ERCC6
FMR1

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

Gender and cell-type-specific effects of the transcription-coupled repair protein, ERCC6/CSB, on repeat expansion in a mouse model of the fragile X-related disorders.PMID 24352881Read ↗

The transcription-coupled repair protein ERCC6/CSB also protects against repeat expansion in a mouse model of the fragile X premutation.Semantic proximity Read ↗

Somatic expansion in mouse and human carriers of fragile X premutation alleles.Semantic proximity Read ↗

Heterozygosity for a hypomorphic Polβ mutation reduces the expansion frequency in a mouse model of the Fragile X-related disorders.Semantic proximity Read ↗

ATR protects the genome against CGG.CCG-repeat expansion in Fragile X premutation mice.Semantic proximity Read ↗

Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition.Semantic proximity Read ↗

Cockayne syndrome pathogenesis: lessons from mouse models.Semantic proximity Read ↗

A mouse model for Fraser syndrome?Semantic proximity Read ↗

Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes.Semantic proximity Read ↗

Cockayne Syndrome group B protein interacts with TRF2 and regulates telomere length and stability.Semantic proximity Read ↗

Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.Semantic proximity Read ↗

Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion.Semantic proximity Read ↗

ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice.Semantic proximity Read ↗

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