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

Expanded complexity of unstable repeat diseases.

BioFactors (Oxford, England) - 1 Jan 2000

Polak Urszula, McIvor Elizabeth, Dent Sharon Y R, Wells Robert D, Napierala Marek

Abstract excerpt

Unstable repeat diseases (URDs) share a common mutational phenomenon of changes in the copy number of short, tandemly repeated DNA sequences. More than 20 human neurological diseases are caused by instability, predominantly, expansion of microsatellite sequences. Changes in the repeat size initiate a cascade of pathological processes, frequently characteristic of a unique disease or a small subgroup of the URDs....

Read the complete abstract on PubMed

Topics

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

Share to Disease
Share to Genetic Variation
Share to Genomic Instability

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Minisatellite Repeats

Share to Tandem Repeat Sequences

Share to Trinucleotide Repeats

Source

Open in PubMed Open full text

Identifiers

PMID: 23233240
DOI: 10.1002/biof.1060
PMCID: PMC4648362

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanded complexity of unstable repeat diseases.PMID 23233240Read ↗

Diseases of unstable repeat expansion: mechanisms and common principles.Semantic proximity Read ↗

Trinucleotide repeats: mechanisms and pathophysiology.Semantic proximity Read ↗

Repeat instability as the basis for human diseases and as a potential target for therapy.Semantic proximity Read ↗

Dynamic mutations: a decade of unstable expanded repeats in human genetic disease.Semantic proximity Read ↗

Unstable expansion of triplet repeats as a new disease mechanism for neurodegenerative diseases.Semantic proximity Read ↗

Trinucleotide instability: a repeating theme in human inherited disorders.Semantic proximity Read ↗

Repeat instability: mechanisms of dynamic mutations.Semantic proximity Read ↗

Molecular mechanisms underlying nucleotide repeat expansion disorders.Semantic proximity Read ↗

Identification and characterization of repeat expansions in neurological disorders: Methodologies, tools, and strategiesSemantic proximity Read ↗

Genetic modifiers of repeat expansion disorders.Semantic proximity Read ↗

Fourteen and counting: unraveling trinucleotide repeat diseasesSemantic proximity Read ↗

[Repeat-associated diseases, mutagenesis, pathogenesis, and therapeutic avenues].Semantic proximity Read ↗

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