Results 181 to 190 of about 18,012 (216)

Evolution of the cryptic FMR1 CGG repeat

Nature Genetics, 1995
We have sequenced the 5' untranslated region of the orthologous FMR1 gene from 44 species of mammals. The CGG repeat is present in each species, suggesting conservation of the repeat over 150 million years of mammalian radiation. Most mammals possess small contiguous repeats (mean number of repeats = 8.0 +/- 0.8), but in primates, the repeats are ...
E E, Eichler, C B, Kunst, K A, Lugenbeel, O A, Ryder, D, Davison, S T, Warren, D L, Nelson   +6 more
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FMR1 gene and fragile X syndrome

American Journal of Medical Genetics, 2000
Taxonomic features of fragile X syndrome (FXS) associated with the fragile X mutation have evolved over several decades. Males are more severely impacted cognitively than females, but both show declines in IQ scores as they age. Although many males with FXS exhibit autistic-like features, autism does not occur more frequently in males with FXS than ...
Bardoni, Barbara, Mandel, Jean-Louis, Fisch, Gene S.   +2 more
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The CGG repeat and the FMR1 gene.

Methods in molecular biology (Clifton, N.J.), 2004
This review intends to provide the different DNA methods for diagnosis of the repeat in the FMR1 gene. The two DNA methods to determine the CGG repeat size are Southern blot hybridization and the polymerase chain reaction (PCR), including bisulfite treatment.
Stoyanova, V (Violeta), Oostra, Ben
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FMR1 and the Continuum of Primary Ovarian Insufficiency

Seminars in Reproductive Medicine, 2011
Spontaneous 46,XX primary ovarian insufficiency (POI) is a term that describes ovarian dysfunction resulting in a range of abnormalities, from infertility to early menopause as the end stage (overt POI). The most common known genetic cause of 46,XX POI is the expansion of a CGG repeat to 55 to 199 copies in the 5' untranslated region in the X-linked ...
Shannon D, Sullivan, Corrine, Welt, Stephanie, Sherman   +2 more
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Fine structure of the human FMR1 gene

Human Molecular Genetics, 1993
The fragile X syndrome is due to a CGG triplet expansion in the first exon of FMR1, resulting in hypermethylation and extinction of gene expression. To further our understanding of the gene's involvement in the syndrome, we report the physical structure of this locus. A high resolution restriction map of the FRAX(A) locus has been prepared encompassing
E E, Eichler, S, Richards, R A, Gibbs, D L, Nelson   +3 more
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Premature Ovarian Failure and the FMR1 Gene

Seminars in Reproductive Medicine, 2000
FMR1 is an X-linked gene that codes for an RNA binding protein. Expansion of a triplet repeat within exon 1 of the gene causes the fragile X syndrome, which is characterized by mental retardation and various physical anomalies. The triplet repeat in FMR1 can expand to varying degrees.
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Monitoring for Epigenetic Modifications at the FMR1 Locus

2019
The vast majority of fragile X affected patients do not transcribe FMR1 due to a CGG repeat expansion in the 5'-untranslated region of the FMR1 gene. When the CGGs considerably expand, it elicits abnormal DNA methylation and histone modifications, which are responsible for FMR1 transcriptional silencing.
Silvina, Epsztejn-Litman, Rachel, Eiges
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FMR1 and the Fragile X Syndrome

2008
Abstract Fragile X syndrome (FXS) is an X-linked dominant disorder with reduced penetrance whose primary manifestation is moderate-to- severe mental retardation. It is most often caused by the transcriptional silencing of the FMR1 gene due to an expansion of a CGG-repeat found in the 5’ untranslated region (UTR). This allelic class, with
Kathryn B Garber, Daniel Gruskin,, Stephen T Warren   +2 more
openaire   +1 more source

?????????????????? ???????????????????? ?????????????? CGG-???????????????? ???????? FMR1 ?? ?????????????????? ?? ???????????????????? ?????????????????? ?? ???????????????????????????? ????????????????

2014
?? ???????????? ?????????????????? ?? ?????????????????????? ???????????????? ?????????????? ???????????????????????????? ?????????????????? ?????????????? ?????????? ???????????? ???????? FMR1 (40???47 CGG-????????????????) ?????????????????????????? ???????????????????? ?????????????????? ???? ?????????????? ?? ?????????????????????? ???????????? ??.
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Polymorphism in the FMR1 gene

Human Genetics, 1998
Chris Gunter, S. T. Warren
openaire   +1 more source