Results 181 to 190 of about 14,262 (208)

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.
Paul J. Hagerman, Flora Tassone
openaire   +3 more sources

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
Corrine K. Welt, Michael D. Wittenberger, Emily C. Corrigan, Lawrence M. Nelson, Stephanie L. Sherman, Joe Leigh Simpson, Randi J Hagerman, Allyn McConkie-Rosell, Robert W. Rebar   +8 more
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Spontaneous rescue of a FMR1 repeat expansion and review of deletions in the FMR1 non-coding region

European Journal of Medical Genetics, 2021
Fragile X syndrome (FXS) is caused by CGG-repeat expansion in the 5' UTR of FMR1 of >200 repeats. Rarely, FXS is caused by deletions; however, it is not clear whether deletions including only the non-coding region of FMR1 are pathogenic. We report a deletion in the 5' UTR of FMR1 in an unaffected male infant and review 12 reported deletions involving ...
Emilie Erbs, Jesper Fenger-Grøn, Cecilie Mondrup Jacobsen, Dorte Launholt Lildballe, Maria Rasmussen   +4 more
openaire   +4 more sources

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, David L. Nelson, Lisa A. Yuva-Paylor, Deanna Graham, Richard Paylor   +4 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.
Renate K. Hukema, Ben A. Oostra
openaire   +4 more sources

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
openaire   +4 more sources

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
openaire   +3 more sources