Results 241 to 250 of about 19,426 (255)

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

Fine structure of the human FMR1 gene

Human Molecular Genetics, 1993
The fragile X syndrome is due to a CGG triplet expansion in the first exon of FMR1, resulting in hypermethylation and extinction of gene expression. To further our understanding of the gene's involvement in the syndrome, we report the physical structure of this locus. A high resolution restriction map of the FRAX(A) locus has been prepared encompassing
Evan E. Eichler, Stephen Richards, Richard A. Gibbs, David L. Nelson   +3 more
openaire   +3 more sources

Aberrant mitochondrial bioenergetics in the cerebral cortex of the Fmr1 knockout mouse model of fragile X syndrome

Biological chemistry, 2019
Impaired energy metabolism may play a role in the pathogenesis of neurodevelopmental disorders including fragile X syndrome (FXS). We checked brain energy status and some aspects of cell bioenergetics, namely the activity of key glycolytic enzymes ...
S. D’Antoni, L. de Bari, D. Valenti, M. Borro, C. Bonaccorso, M. Simmaco, R. A. Vacca, M. V. Catania   +7 more
semanticscholar   +1 more source

USP7 accelerates FMR1-mediated ferroptosis by facilitating TBK1 ubiquitination and DNMT1 deubiquitination after renal ischemia–reperfusion injury

Inflammation Research, 2022
Boqing Dong, C. Ding, H. Xiang, Jin Zheng, Xiao Li, W. Xue, Yang Li   +6 more
semanticscholar   +1 more source

FMR1/circCHAF1A/miR-211-5p/HOXC8 feedback loop regulates proliferation and tumorigenesis via MDM2-dependent p53 signaling in GSCs

Oncogene, 2021
Yang Jiang, Zhenlin Wang, Chen-ting Ying, Jiangfeng Hu, Tao Zeng, Liang Gao   +5 more
semanticscholar   +1 more source

Monitoring for Epigenetic Modifications at the FMR1 Locus

2019
The vast majority of fragile X affected patients do not transcribe FMR1 due to a CGG repeat expansion in the 5'-untranslated region of the FMR1 gene. When the CGGs considerably expand, it elicits abnormal DNA methylation and histone modifications, which are responsible for FMR1 transcriptional silencing.
Rachel Eiges, Rachel Eiges, Silvina Epsztejn-Litman   +2 more
openaire   +3 more sources

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   +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.
Konstantinos Priftis, Cristina Busana, Riccardo Pignatti, Roberta Polli, Teresa Iuculano, Teresa Iuculano, Carlo Semenza, Sabrina Bonollo, Anna Maria Laverda, Alessandra Murgia   +9 more
openaire   +4 more sources

Polymorphism in the FMR1 gene

Human Genetics, 1998
Chris Gunter, Stephen T. Warren
openaire   +2 more sources

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