Results 191 to 200 of about 19,944 (229)

Parkinsonism, FXTAS, and FMR1 premutations

Movement Disorders, 2004
AbstractThe presence of late‐onset neurological symptoms in male carriers of premutation expansions of the fragile X mental retardation 1 (FMR1) gene has been described recently. One of the clinical symptoms in this fragile X–associated tremor/ataxia syndrome (FXTAS) is parkinsonism.
Mathias, Toft, Jan, Aasly, Gina, Bisceglio, Charles H, Adler, Ryan J, Uitti, Anna, Krygowska-Wajs, Timothy, Lynch, Zbigniew K, Wszolek, Matthew J, Farrer   +8 more
openaire   +2 more sources

The behavioral phenotype of FMR1 mutations

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2010
AbstractThe purpose of this article is to provide an overview of the behavioral phenotype of FMR1 mutations, including fragile X syndrome (FXS) in order to better understand the clinical involvement of individuals affected by mutations in this gene. FXS is associated with a wide range of intellectual and behavioral problems, some relatively mild and ...
Lia, Boyle, Walter E, Kaufmann
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

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
openaire   +2 more sources

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
openaire   +2 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

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
openaire   +2 more sources

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2014
?? ???????????? ?????????????????? ?? ?????????????????????? ???????????????? ?????????????? ???????????????????????????? ?????????????????? ?????????????? ?????????? ???????????? ???????? FMR1 (40???47 CGG-????????????????) ?????????????????????????? ???????????????????? ?????????????????? ???? ?????????????? ?? ?????????????????????? ???????????? ??.
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 K Watts, Elizabeth Berry-Kravis, Sneha Shah   +2 more
exaly  

Polymorphism in the FMR1 gene

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