Results 221 to 230 of about 28,343 (239)

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
openaire   +3 more sources

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
openaire   +1 more source

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.
Richard, Paylor, Lisa A, Yuva-Paylor, David L, Nelson, Corinne M, Spencer   +3 more
openaire   +2 more sources

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 ...
Lia, Boyle, Walter E, Kaufmann
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Frühzeitige Ovarialinsuffizienz und FMR1-Mutation

Der Gynäkologe, 2012
Die primare fruhzeitige (pramature) Ovarialinsuffizienz („premature ovarian insufficiency“, POI) ist eine seltene, schwerwiegende endokrine Erkrankung, die neben iatrogenen meist immunologische und/oder genetische Ursachen hat. Der Zusammenhang mit dem Pramutationsallel des FMR1-Gens („fragile X mental retardation 1“) auf dem X-Chromosom ist schon ...
openaire   +1 more source

FMR1 and the Fragile X Syndrome

2008
Abstract Fragile X syndrome (FXS) is an X-linked dominant disorder with reduced penetrance whose primary manifestation is moderate-to- severe mental retardation. It is most often caused by the transcriptional silencing of the FMR1 gene due to an expansion of a CGG-repeat found in the 5’ untranslated region (UTR). This allelic class, with
Kathryn B Garber, Daniel Gruskin,, Stephen T Warren   +2 more
openaire   +1 more source

?????????????????? ???????????????????? ?????????????? CGG-???????????????? ???????? FMR1 ?? ?????????????????? ?? ???????????????????? ?????????????????? ?? ???????????????????????????? ????????????????

2014
?? ???????????? ?????????????????? ?? ?????????????????????? ???????????????? ?????????????? ???????????????????????????? ?????????????????? ?????????????? ?????????? ???????????? ???????? FMR1 (40???47 CGG-????????????????) ?????????????????????????? ???????????????????? ?????????????????? ???? ?????????????? ?? ?????????????????????? ???????????? ??.
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Spontaneous seizures in adult Fmr1 knockout mice: FVB.129P2-Pde6b+ Tyr Fmr1/J

Epilepsy Research, 2022
Jessica L. Armstrong, Tanishka S. Saraf, Omkar Bhatavdekar, Clinton E. Canal   +3 more
openaire   +1 more source

Premature Ovarian Failure and the FMR1 Gene

Seminars in Reproductive Medicine, 2000
FMR1 is an X-linked gene that codes for an RNA binding protein. Expansion of a triplet repeat within exon 1 of the gene causes the fragile X syndrome, which is characterized by mental retardation and various physical anomalies. The triplet repeat in FMR1 can expand to varying degrees.
openaire   +2 more sources

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
openaire   +2 more sources