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

Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal.

Human heredity - 1 Jan 2005

Lima M, Costa M C, Montiel R, Ferro A, Santos C, Silva C, Bettencourt C, Sousa A, Sequeiros J, Coutinho P, Maciel P

Abstract excerpt

OBJECTIVE: To gain insights on the molecular mechanisms of mutation that led to the emergence of expanded alleles in the MJD gene, by studying the behavior of wild-type alleles and testing the association of its distribution with the representation of the disease. METHODS: The number of CAG motifs in the MJD gene was determined in a representative sample of 1000 unrelated individuals. Associations between the...

Read the complete abstract on PubMed

Topics

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

Share to Ataxin-3
Share to Demography
Share to Machado-Joseph Disease

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

Share to Nerve Tissue Proteins

Share to Nuclear Proteins

Share to Portugal

Share to Repressor Proteins

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 16340213
DOI: 10.1159/000090035

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

Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal.PMID 16340213Read ↗

Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease.Semantic proximity Read ↗

Founder haplotype for Machado-Joseph disease in the Indian population: novel insights from history and polymorphism studies.Semantic proximity Read ↗

Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal).Semantic proximity Read ↗

Origins and Spread of Machado-Joseph Disease Ancestral Mutations Events.Semantic proximity Read ↗

Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation.Semantic proximity Read ↗

Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease.Semantic proximity Read ↗

Improvement in the molecular diagnosis of Machado-Joseph disease.Semantic proximity Read ↗

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.Semantic proximity Read ↗

Genetic polymorphism of MJD1 alleles and molecular analysis of SCA3 patients from Rio de Janeiro, Brazil.Semantic proximity Read ↗

Variation in the number of CAG repeats in the Machado-Joseph disease gene (MJD1) in the Japanese population.Semantic proximity Read ↗

Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation.Semantic proximity Read ↗

The genomic structure and expression of MJD, the Machado-Joseph disease geneSemantic proximity Read ↗

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