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Article

Nonrandom X inactivation and selection of fragile X full mutation in fetal fibroblasts.

American journal of medical genetics - 10 Sept 1999

Sun Y J, Baumer A

Abstract excerpt

In the fragile X female carriers the degree of cognitive impairment appears to be correlated with activation status of the X chromosome bearing the expanded trinucleotide repeat in the promoter of the FMR1 gene. In this study we asked if the deviations from the primarily random pattern of X inactivation are related to the selection which is thought to occur against cells carrying the fragile X full mutation (FM)...

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Source

Identifiers

PMID: 10449653
DOI: 10.1002/(sici)1096-8628(19990910)86:2<162::aid-ajmg14>3.0.co;2-d

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 · 8 closest

Nonrandom X inactivation and selection of fragile X full mutation in fetal fibroblasts.PMID 10449653Read ↗

Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation.Semantic proximity Read ↗

Increase of FMRP expression, raised levels of FMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: a clue to the sex bias in the transmission of full mutations?Semantic proximity Read ↗

Epigenetic characterization of the FMR1 promoter in induced pluripotent stem cells from human fibroblasts carrying an unmethylated full mutation.Semantic proximity Read ↗

An assay for X inactivation based on differential methylation at the fragile X locus, FMR1.Semantic proximity Read ↗

Mental retardation in heterozygotes for the fragile-X mutation: evidence in favor of an X inactivation-dependent effect.Semantic proximity Read ↗

Fragile-X syndrome and skewed X-chromosome inactivation within a family: a female member with complete inactivation of the functional X chromosome.Semantic proximity Read ↗

Molecular dissection of the events leading to inactivation of the FMR1 gene.Semantic proximity Read ↗

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

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