Results 151 to 160 of about 14,330 (189)

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 ...
Stephanie Sherman, Corrine Welt
exaly   +3 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

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
openaire   +3 more sources

FMR1 in global populations.

American journal of human genetics, 1996
Fragile X syndrome, a frequent form of inherited mental retardation, results from the unstable expansion of a cryptic CGG repeat within the 5' UTR region of the FMR1 gene. The CGG repeat is normally polymorphic in length, and the content is frequently interrupted by AGG triplets.
KUNST CB, ZERYLNICK C, KARICKHOFF L, EICHLER E, BULLARD J, CHALIFOUX M, HOLDEN JJ, NELSON DL, WARREN ST, TORRONI, ANTONIO   +9 more
openaire   +1 more source

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2014
?? ???????????? ?????????????????? ?? ?????????????????????? ???????????????? ?????????????? ???????????????????????????? ?????????????????? ?????????????? ?????????? ???????????? ???????? FMR1 (40???47 CGG-????????????????) ?????????????????????????? ???????????????????? ?????????????????? ???? ?????????????? ?? ?????????????????????? ???????????? ??.
openaire   +1 more source

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.
openaire   +2 more sources

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

Antisense oligonucleotide rescue of CGG expansion–dependent FMR1 mis-splicing in fragile X syndrome restores FMRP

Proceedings of the National Academy of Sciences of the United States of America, 2023
Jonathan Watts, Elizabeth Berry-Kravis, Sneha Shāh   +2 more
exaly  

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

Cells, 2023
Randi Hagerman, Peng Jin, Dejan Budimirovic   +2 more
exaly