Results 211 to 220 of about 28,343 (239)

Social behavior in Fmr1 knockout mice carrying a human FMR1 transgene.

Behavioral Neuroscience, 2008
Fragile X syndrome (FXS) results from the loss of expression of the fragile X mental retardation (FMR1) gene. Individuals affected by FXS experience many behavioral problems, including cognitive impairment, hyperactivity, social anxiety, and autistic-like behaviors.
Corinne M, Spencer, Deanna F, Graham, Lisa A, Yuva-Paylor, David L, Nelson, Richard, Paylor   +4 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
openaire   +3 more sources

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
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Epigenetic Modifications of the FMR1 Gene

2013
The fragile X syndrome (FXS), the most common cause of heritable intellectual disability, is caused by expansion of a CGG repeat located at the 5' UTR of the FMR1 gene and subsequent epigenetic modifications of its promoter. Epigenetic modifications include both methylation of the cytosines of the CpG island in the promoter region and of the expanded ...
Tabolacci, Elisabetta, Neri, Giovanni
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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
openaire   +3 more sources

Genetics and mathematics: FMR1 premutation female carriers

Neuropsychologia, 2012
Neuropsychological investigations of FMR1 premutation carriers without FXTAS present one domain resulting in contradictory findings, namely that of mathematical skills. One reason for this might be that standard clinical batteries used so far may be inadequate to uncover precise deficits within specific mathematical skills.
SEMENZA, CARLO, S. Bonollo, R. Polli, C. Busana, R. Pignatti, T. Iuculano, A. M. Laverda, PRIFTIS, KONSTANTINOS, MURGIA, ALESSANDRA   +8 more
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Compound Heterozygosity at the FMR1 Gene

Genetic Testing, 2001
Individuals affected with Fragile X syndrome are usually characterized at the DNA level by the presence of at least 200 CGG repeats in the 5' untranslated region of the FMR1 gene; this number of repeats is defined as a full mutation. Repeats that number 50-200 usually define those with premutations and are termed unaffected carriers.
Hegde, MR, Fawkner, M, Chong, B, McGaughran, J, Gilbert, D, Love, DR   +5 more
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Executive Dysfunction in Female FMR1 Premutation Carriers

The Cerebellum, 2016
There is now growing evidence of cognitive weakness in female premutation carriers (between 55 and 199 CGG repeats) of the fragile X mental retardation gene, including impairments associated with executive function. While an age-related decline in assessments of executive function has been found for male premutation carriers, few studies have explored ...
Annie L, Shelton, Kim M, Cornish, Claudine M, Kraan, Reymundo, Lozano, Minh, Bui, Joanne, Fielding   +5 more
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FMR1 Premutation: Basic Mechanisms and Clinical Involvement

The Cerebellum, 2016
The wide spectrum of clinical phenotypes associated with the FMR1 premutation affect more than two million people worldwide. The clinical implications have only been recognized recently despite this disorder constitutes a relevant health problem.
Montserrat, Milà, Laia, Rodriguez-Revenga, Antoni, Matilla-Dueñas   +2 more
openaire   +2 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