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

Somatic expansion in mouse and human carriers of fragile X premutation alleles.

Human mutation - 1 Jan 2013

Lokanga Rachel Adihe, Entezam Ali, Kumari Daman, Yudkin Dmitry, Qin Mei, Smith Carolyn Beebe, Usdin Karen

Abstract excerpt

Repeat expansion diseases result from expansion of a specific tandem repeat. The three fragile X-related disorders (FXDs) arise from germline expansions of a CGG•CCG repeat tract in the 5' UTR (untranslated region) of the fragile X mental retardation 1 (FMR1) gene. We show here that in addition to germline expansion, expansion also occurs in the somatic cells of both mice and humans carriers of premutation...

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 Fragile X Mental Retardation Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fragile X Syndrome

Share to MutS Homolog 2 Protein

Share to MutS Homolog 3 Protein

Share to Testis

Share to Trinucleotide Repeat Expansion

Source

Open in PubMed Open full text

Identifiers

PMID: 22887750
DOI: 10.1002/humu.22177
PMCID: PMC3524353

Genes

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

Somatic expansion in mouse and human carriers of fragile X premutation alleles.PMID 22887750Read ↗

Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation.Semantic proximity Read ↗

Genetic modifiers of repeat expansion disorders.Semantic proximity Read ↗

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

The mismatch repair protein MSH2 is rate limiting for repeat expansion in a fragile X premutation mouse model.Semantic proximity Read ↗

Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model.Semantic proximity Read ↗

CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles.Semantic proximity Read ↗

Instability of a (CGG)98 repeat in the Fmr1 promoter.Semantic proximity Read ↗

Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?Semantic proximity Read ↗

Reconciling the effects of PMS2 in different repeat expansion disease models supports a common expansion mechanismSemantic proximity Read ↗

Mouse models of triplet repeat diseases.Semantic proximity Read ↗

The complex pathology of trinucleotide repeats.Semantic proximity Read ↗

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