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Article

Transcription of the FMR1 gene in individuals with fragile X syndrome.

American journal of medical genetics - 1 Jan 2000

Tassone F, Hagerman R J, Chamberlain W D, Hagerman P J

Abstract excerpt

Fragile X syndrome generally arises as a consequence of a large expansion of a CGG trinucleotide repeat element that is located in the GC-rich promoter region of the fragile X mental retardation gene (FMR1). In the conventional model for fragile X, clinical involvement arises as a consequence of silencing of the FMR1 gene, with the attendant loss of FMR1 protein (FMRP). However, it has recently been demonstrated...

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Source

Identifiers

PMID: 11449488
DOI: 10.1002/1096-8628(200023)97:3<195::AID-AJMG1037>3.0.CO;2-R

Genes

FMR1

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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Transcription of the FMR1 gene in individuals with fragile X syndrome.PMID 11449488Read ↗

Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA.Semantic proximity Read ↗

Expression of the FMR1 gene.Semantic proximity Read ↗

Examination of FMR1 transcript and protein levels among 74 premutation carriers.Semantic proximity Read ↗

Elevated FMR1 mRNA in premutation carriers is due to increased transcription.Semantic proximity Read ↗

Quantitative comparison of FMR1 gene expression in normal and premutation alleles.Semantic proximity Read ↗

Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male.Semantic proximity Read ↗

Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats.Semantic proximity Read ↗

The role of AGG interruptions in the transcription of FMR1 premutation alleles.Semantic proximity Read ↗

CGG repeat in the FMR1 gene: size matters.Semantic proximity Read ↗

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.Semantic proximity Read ↗

Normal phenotype in two brothers with a full FMR1 mutation.Semantic proximity Read ↗

Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.Semantic proximity Read ↗

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