Results 191 to 200 of about 19,643 (207)

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-????????????????) ?????????????????????????? ???????????????????? ?????????????????? ???? ?????????????? ?? ?????????????????????? ???????????? ??.
openaire   +1 more source

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

Hyperactivity, Memory Defects, and Craniofacial Abnormalities in Zebrafish fmr1 Mutant Larvae

Behavior Genetics, 2020
Jia Hu, Lei Chen, Jian Yin, Huancai Yin, Yinong Huang, Jingjing Tian   +5 more
semanticscholar   +1 more source

Long non-coding RNA FTX alleviates hypoxia/reoxygenation-induced cardiomyocyte injury via miR-410-3p/Fmr1 axis.

European Review for Medical and Pharmacological Sciences, 2020
L. Li, L. Li, Y-Z Zhang, H.Y Yang, Y-Y Wang   +4 more
semanticscholar   +1 more source

Fragile X syndrome: An overview and update of the FMR1 gene

Clinical Genetics, 2018
M. Milá, M. I. Álvarez-Mora, I. Madrigal, L. Rodríguez-Revenga   +3 more
semanticscholar   +1 more source

Polymorphism in the FMR1 gene

Human Genetics, 1998
Chris Gunter, S. T. Warren
openaire   +1 more source

fmr1/FMR1

2005
openaire   +1 more source