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

Heritable unstable DNA sequences and hypermethylation associated with fragile X syndrome in Japanese families.

Clinical genetics - 1 Jan 1993

Hori T, Yamauchi M, Seki N, Tsuji S, Kondo I

Abstract excerpt

Fragile X syndrome, associated with the fragile site at Xq27.3 (FRAXA), is the most common form of familial mental retardation. The fragile X mutation has recently been characterized as a heritable unstable DNA sequence, p(CCG)n/p(CGG)n, in the FRAXA locus. In the present study, a correlation between fragile X-genotypes in the FRAXA locus and hypermethylation of an adjacent CpG island was examined in four...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Blotting, Southern
Share to DNA

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

Share to Molecular Sequence Data

Share to Mutation

Share to Oligonucleotide Probes

Share to Pedigree

Source

Identifiers

PMID: 8462194
DOI: 10.1111/j.1399-0004.1993.tb04423.x

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

Heritable unstable DNA sequences and hypermethylation associated with fragile X syndrome in Japanese families.PMID 8462194Read ↗

Fragile-X syndrome: unique genetics of the heritable unstable element.Semantic proximity Read ↗

Hereditary unstable DNA: a new explanation for some old genetic questions?Semantic proximity Read ↗

[Pathology of unstable sequence of genome: fragile-X-syndrome].Semantic proximity Read ↗

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome.Semantic proximity Read ↗

Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrome.Semantic proximity Read ↗

Methylation and mutation patterns in the fragile X syndrome.Semantic proximity Read ↗

Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate.Semantic proximity Read ↗

Instability of the CGG repeat at the FRAXA locus and variable phenotypic expression in a large fragile X pedigree.Semantic proximity Read ↗

Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.Semantic proximity Read ↗

Dynamic behavior of fragile X full mutations in cultured female fetal fibroblasts.Semantic proximity Read ↗

Methylation mosaicism of 5'-(CGG)(n)-3' repeats in fragile X, premutation and normal individuals.Semantic proximity Read ↗

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation.Semantic proximity Read ↗

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