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Article

Examination of FMR1 transcript and protein levels among 74 premutation carriers.

Journal of human genetics - 1 Jan 2010

Peprah Emmanuel, He Weiya, Allen Emily, Oliver Tiffany, Boyne Alex, Sherman Stephanie L

Abstract excerpt

Fragile X-associated disorders are caused by a CGG trinucleotide repeat expansion in the 5'-untranslated region of the FMR1 gene. Expansion of the CGG trinucleotide repeats to >200 copies (that is, a full mutation) induces methylation of the FMR1 gene, with transcriptional silencing being the eventual outcome. Previous data have shown that FMR1 premutation carriers (individuals with 55-199 repeats) have increased...

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Topics

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Share to Fragile X Mental Retardation Protein
Share to Fragile X Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Protein Biosynthesis

Share to RNA, Messenger

Share to Sequence Analysis, DNA

Share to Transcription, Genetic

Share to Trinucleotide Repeat Expansion

Share to Trinucleotide Repeats

Source

Open in PubMed Open full text

Identifiers

PMID: 19927162
DOI: 10.1038/jhg.2009.121
PMCID: PMC4122982

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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