Results 181 to 190 of about 19,944 (229)

Expression of the FMR1 gene

Cytogenetic and Genome Research, 2003
Fragile X syndrome is a trinucleotide repeat disorder in which a (CGG)_n element located within the 5′ untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene expands to more than 200 copies (full mutation) and becomes hypermethylated.
F, Tassone, P J, Hagerman
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The FMR1 premutation and reproduction

Fertility and Sterility, 2007
To update clinicians on the reproductive implications of premutations in FMR1 (fragile X mental retardation 1). Fragile X syndrome, a cause of mental retardation and autism, is due to a full mutation (>200 CGG repeats). Initially, individuals who carried the premutation (defined as more than 55 but less than 200 CGG repeats) were not considered at risk
Michael D, Wittenberger, Randi J, Hagerman, Stephanie L, Sherman, Allyn, McConkie-Rosell, Corrine K, Welt, Robert W, Rebar, Emily C, Corrigan, Joe Leigh, Simpson, Lawrence M, Nelson   +8 more
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Expression of three zebrafish orthologs of human FMR1-related genes and their phylogenetic relationships

Development Genes and Evolution, 2004
The original publication can be found at www.springerlink.comThe human fragile X mental retardation syndrome is caused by expansions of a CGG repeat in the FMR1 gene. FXR1 and FXR2 are autosomal paralogs of FMR1.
Michael Lardelli, Robert Ian Richards
exaly   +2 more sources

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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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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The CGG Repeat and the FMR1 Gene

2013
This chapter intends to provide the different DNA and protein methods for analysis of the repeat in the FMR1 gene, both in humans and in mouse models. The methods to determine the CGG repeat size include Southern blot analysis, polymerase chain reaction (PCR), and methylation status analysis, including bisulfite treatment.
Hukema, Renate, Oostra, Ben
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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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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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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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