Results 11 to 20 of about 15,002 (209)

CGG repeat in the FMR1 gene: size matters [PDF]

Clinical Genetics, 2011
The FMR1 gene contains a CGG repeat present in the 5'-untranslated region which can be unstable upon transmission to the next generation. The repeat is up to 55 CGGs long in the normal population.
Levenga, Geertruida, J Levenga, Oostra, B.A. (Ben), BA Oostra, Willemsen, R.A. (Ralph), Willemsen, Rob, Levenga, G.J. (Josien), Oostra, Ben, R Willemsen   +8 more
exaly   +4 more sources

FMR1: A gene with three faces [PDF]

Biochimica et Biophysica Acta (BBA) - General Subjects, 2009
The FMR1 gene is involved in three different syndromes, the fragile X syndrome (FXS), premature ovarian insufficiency (POI) and the fragile X-associated tremor/ataxia syndrome (FXTAS) at older age.
Willemsen, R. (Rob), Oostra, B.A. (Ben), Willemsen, Rob, Oostra, Ben   +3 more
core   +4 more sources

Structure and Alternative Splicing of the Antisense FMR1 (ASFMR1) Gene [PDF]

Molecular Neurobiology, 2023
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by an expansion of 55–200 CGG repeats (premutation) in the 5'-UTR of the FMR1 gene.
Li, Jie, Tseng, Elizabeth, Zafarullah, Marwa, Tassone, Flora   +3 more
core   +5 more sources

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.
Mandel, Jean-Louis, Fisch, Gene S., Bardoni, Barbara   +2 more
core   +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.
Tabolacci, Elisabetta
core   +3 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.
Hegde, MR, Chong, B, Gilbert, D, Love, DR, McGaughran, J, Fawkner, M   +5 more
core   +5 more sources

Defining the role of the CGGBP1 protein in FMR1 gene expression [PDF]

European Journal of Human Genetics, 2016
Fragile X syndrome is the most common heritable form of intellectual disability and is caused by the expansion over 200 repeats and subsequent methylation of the CGG triplets at the 5′ UTR of the FMR1 gene, leading to its silencing.
Neri, Giovanni, Chiurazzi, Pietro, Mancano, Giorgia, Giorgia Mancano, Elisabetta Tabolacci, Tabolacci, Elisabetta, Goracci, Martina, Lanni, Stella, Martina Goracci, Palumbo, Federica, Stella Lanni, Giovanni Neri, Federica Palumbo, Pietro Chiurazzi   +13 more
core   +4 more sources

Utilizing FMR1 gene mutations as predictors of treatment success in human in vitro fertilization.

PLoS ONE, 2014
ContextMutations of the fragile X mental retardation 1 (FMR1) gene are associated with distinct ovarian aging patterns.ObjectiveTo confirm in human in vitro fertilization (IVF) that FMR1 affects outcomes, and to determine whether this reflects ...
Vitaly A Kushnir, Yao Yu, David H Barad, Andrea Weghofer, Eric Himaya, Ho-Joon Lee, Yan-Guang Wu, Aya Shohat-Tal, Emanuela Lazzaroni-Tealdi, Norbert Gleicher   +9 more
doaj   +2 more sources

The FMR1 Gene, Infertility and Reproductive Decision-Making: A Review [PDF]

Frontiers in Genetics, 2014
The strongest association between FMR1 and the ovary in humans is the increased risk of premature ovarian failure in women who carry the premutation level of CGG repeats (55-199 CGGs).
Joshua eJohnson, Lisa M Pastore
core   +4 more sources

<i>FMR1</i> RNA interaction with DNMT1 blocks DNA methylation at the <i>FMR1 locus</i>. [PDF]

NAR Mol Med
In the FMR1 gene, expansion of the CGG triplet beyond 200 repeats triggers DNA methylation, resulting in the Fragile X Syndrome (FXS). There exist rare individuals who carry a CGG expansion >200 that remains unmethylated, rescuing them from expressing ...
Nobile V, Niccolini B, Pucci C, Pietrobono R, Modafferi C, Esposito CL, Cappoli N, Bianchetti G, Maulucci G, Aceto G, D'Ascenzo M, Chiurazzi P, Dello Russo C, Genuardi M, Neri G, Di Ruscio A, Tabolacci E.   +16 more
europepmc   +2 more sources