Results 181 to 190 of about 19,643 (207)

FMR1 Premutation: Basic Mechanisms and Clinical Involvement

The Cerebellum, 2016
The wide spectrum of clinical phenotypes associated with the FMR1 premutation affect more than two million people worldwide. The clinical implications have only been recognized recently despite this disorder constitutes a relevant health problem.
Montserrat, Milà, Laia, Rodriguez-Revenga, Antoni, Matilla-Dueñas   +2 more
openaire   +2 more sources

Evolution of the cryptic FMR1 CGG repeat

Nature Genetics, 1995
We have sequenced the 5' untranslated region of the orthologous FMR1 gene from 44 species of mammals. The CGG repeat is present in each species, suggesting conservation of the repeat over 150 million years of mammalian radiation. Most mammals possess small contiguous repeats (mean number of repeats = 8.0 +/- 0.8), but in primates, the repeats are ...
E E, Eichler, C B, Kunst, K A, Lugenbeel, O A, Ryder, D, Davison, S T, Warren, D L, Nelson   +6 more
openaire   +2 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

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

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

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

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
openaire   +2 more sources

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