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

Parent-of-origin differences of mutant HTT CAG repeat instability in Huntington's disease.

European journal of medical genetics - 1 Jan 2000

Aziz N Ahmad, van Belzen Martine J, Coops Ilona D, Belfroid René D M, Roos Raymund A C

Abstract excerpt

BACKGROUND: Huntington's disease (HD) is a progressive autosomal dominant neurodegenerative disorder caused by a CAG repeat expansion in the HD gene (HTT). The CAG domain of mutant HTT is unstable upon intergenerational transmission, however, little is known about the underlying mechanisms. METHODS: From the HD archives of the Leiden University Medical Centre DNA samples from all parent-offspring pairs involving...

Read the complete abstract on PubMed

Topics

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

Share to Genomic Instability
Share to Huntingtin Protein

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

Share to Huntington Disease

Share to Nerve Tissue Proteins

Share to Penetrance

Share to Sex Factors

Share to Trinucleotide Repeat Expansion

Share to Trinucleotide Repeats

Source

Identifiers

PMID: 21540131
DOI: 10.1016/j.ejmg.2011.04.002

Genes

HTT

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

Parent-of-origin differences of mutant HTT CAG repeat instability in Huntington's disease.PMID 21540131Read ↗

Patterns of meiotic variability of the (CAG)n repeat in the Huntington disease gene.Semantic proximity Read ↗

Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset.Semantic proximity Read ↗

Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia.Semantic proximity Read ↗

Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissionsSemantic proximity Read ↗

CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease.Semantic proximity Read ↗

Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease.Semantic proximity Read ↗

Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1.Semantic proximity Read ↗

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects.Semantic proximity Read ↗

Gender of the embryo contributes to CAG instability in transgenic mice containing a Huntington's disease gene.Semantic proximity Read ↗

Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent.Semantic proximity Read ↗

Juvenile onset Huntington disease resulting from a very large maternal expansion.Semantic proximity Read ↗

Dynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range.Semantic proximity Read ↗

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