Results 191 to 200 of about 14,262 (208)

Evolutionary dynamics of the FMR1 locus

Annals of Human Genetics, 1995
SUMMARYRare haplotypes for close flanking markers are associated with increased allele size and frequency of the fragile X mutation. Exceptional founder haplotypes can be identified, but many haplotypes with rare alleles contribute to full mutations.A transition matrix constructed from the data predicts that a population with reduced variability will ...
Morris, A., MORTON, N. E., Collins, A., Lawrence, S., Macpherson, J. N.   +4 more
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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 ...
David L. Nelson, Oliver A. Ryder, Evan E. Eichler, Catherine B. Kunst, Kellie A. Lugenbeel, Daniel B. Davison, Stephen T. Warren   +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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FMR1 and the Continuum of Primary Ovarian Insufficiency [PDF]

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, Stephanie L. Sherman, Corrine K. Welt   +2 more
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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.
Anna Krygowska-Wajs, Timothy Lynch, Gina Bisceglio, Zbigniew K. Wszolek, Matthew J. Farrer, Mathias Toft, Mathias Toft, Charles H. Adler, Jan O. Aasly, Ryan J. Uitti   +9 more
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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 ...
Walter E. Kaufmann, Lia Boyle
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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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Reversal of sensorimotor gating abnormalities in Fmr1 knockout mice carrying a human Fmr1 transgene.

Behavioral Neuroscience, 2008
Fragile X syndrome is caused by a CGG trinucleotide repeat expansion of the FMR1 gene. Individuals with fragile X display several behavioral abnormalities including hyperactivity, social anxiety, autistic-like features, impaired cognitive processing, and impaired sensorimotor gating.
Corinne M. Spencer, David L. Nelson, Lisa A. Yuva-Paylor, Richard Paylor   +3 more
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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
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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
Evan E. Eichler, Stephen Richards, Richard A. Gibbs, David L. Nelson   +3 more
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