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Article

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

American journal of medical genetics - 18 Sept 2000

Tassone F, Hagerman R J, Loesch D Z, Lachiewicz A, Taylor A K, Hagerman P J

Abstract excerpt

Fragile X syndrome normally arises as a consequence of large expansions (n >200) of a (CGG)(n) trinucleotide repeat in the promoter region of the FMR1 gene. The clinical phenotype is thought to result from hypermethylation of the repeat and adjacent upstream elements, with consequent down-regulation of transcription (transcriptional silencing). However, the relationship between repeat expansion and transcription...

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Share to DNA Methylation
Share to Fragile X Mental Retardation Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Nerve Tissue Proteins

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Source

Identifiers

PMID: 10995510
DOI: 10.1002/1096-8628(20000918)94:3<232::aid-ajmg9>3.0.co;2-h

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA.PMID 10995510Read ↗

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A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA.Semantic proximity Read ↗

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

Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation.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 ↗

CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles.Semantic proximity Read ↗

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

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