Results 101 to 110 of about 28,649 (270)

Le syndrome de l'X fragile : Une protéine absente et 1001 ARNm déboussolés [PDF]

, 2006
Le syndrome du X fragile, première cause de retard mental héréditaire, est une maladie monogénique liée au chromosome X. Le syndrome est causé par l’inactivation du gène Fragile Mental Retardation 1(FMR1) entraînant l’absence de la protéine FMRP dont le ...
Davidovic, Laetitia, De Koninck, Paul, Gravel, Maud, Khandjian, Edward W. Miky, Tremblay, Sandra   +4 more
core   +1 more source

Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP). [PDF]

Genes (Basel), 2016
The final product of FMR1 gene transcription, Fragile X Mental Retardation Protein 1 (FMRP), is an RNA binding protein that acts as a repressor of translation. FMRP is expressed in several tissues and plays important roles in neurogenesis, synaptic plasticity, and ovarian functions and has been implicated in a number of neuropsychological disorders ...
LaFauci G, Adayev T, Kascsak R, Brown WT.   +3 more
europepmc   +5 more sources

Fragile X mental retardation protein regulates heterosynaptic plasticity in the hippocampus [PDF]

Learning & Memory, 2011
Silencing of a single gene, FMR1, is linked to a highly prevalent form of mental retardation, characterized by social and cognitive impairments, known as fragile X syndrome (FXS). The FMR1 gene encodes fragile X mental retardation protein (FMRP), which negatively regulates translation.
Charles A. Hoeffer, Peter V. Nguyen, Steven A. Connor, Eric Klann   +3 more
openaire   +3 more sources

Hair root FMRP expression for screening of fragile X full mutation females

Universa Medicina, 2016
The fragile X syndrome is the most common form of inherited mental retardation in humans, caused by an expansion of the cytosine-guanine-guanine (CGG) repeat in the fragile X mental retardation 1 (FMR1) gene located on the X chromosome.
Lantip Rujito, Dwi Kustiani, Lies Anne Severijnen, Peter Hanzon, Sultana MH Faradz, Rob Willemsen   +5 more
doaj   +1 more source

Early intervention combined with targeted treatment promotes cognitive and behavioral improvements in young children with fragile x syndrome. [PDF]

, 2012
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability due to an expansion in the full mutation range (>200 CGG repeats) of the promoter region of the FMR1 gene leading to gene silencing.
Borodyanskara, Mariya, Hagerman, Randi J, Schneider, Andrea, Winarni, Tri Indah   +3 more
core   +3 more sources

Fragile X mental retardation protein controls gating of the sodium-activated potassium channel Slack

Nature Neuroscience, 2010
In humans, the absence of Fragile X mental retardation protein (FMRP), an RNA-binding protein, results in Fragile X syndrome, the most common inherited form of intellectual disability.
Maile R. Brown, J. Kronengold, Valeswara‐Rao Gazula, Yi Chen, John G. Strumbos, F. Sigworth, D. Navaratnam, L. Kaczmarek   +7 more
semanticscholar   +1 more source

Fragile X mental retardation protein‐regulated proinflammatory cytokine expression in the spinal cord contributes to the pathogenesis of inflammatory pain induced by complete Freund's adjuvant

Journal of Neurochemistry, 2021
Studies have verified that Fragile X mental retardation protein (FMRP), an RNA‐binding protein, plays a potential role in the pathogenesis of formalin‐ and (RS)‐3,5‐dihydroxyphenylglycine‐induced abnormal pain sensations.
Yixin Yang, Jinsong Zhao, Yunze Li, Xiangyao Li, Xiaowei Chen, Zhiying Feng   +5 more
semanticscholar   +1 more source

Longitudinal Analysis of Neuroradiological Biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome and Implications for Clinical Trials

Annals of Neurology, EarlyView.
Objective The objective of this study was to show the capacity of structural brain magnetic resonance imaging (MRI) measures to serve as monitoring biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome (FXTAS). Methods From 2 longitudinal studies of male FMR1 premutation carriers, 2 brain MRI scans were selected from each participant, collected ...
David Hessl, Jun Yi Wang, Glenda Espinal, Ellery Santos, Flora Tassone, Randi J. Hagerman, Susan M. Rivera   +6 more
wiley   +1 more source

Synaptic vesicle dynamic changes in a model of fragile X [PDF]

, 2016
__Background:__ Fragile X syndrome (FXS) is a single-gene disorder that is the most common heritable cause of intellectual disability and the most frequent monogenic cause of autism spectrum disorders (ASD). FXS is caused by an expansion of trinucleotide
Bahn, S. (Sabine), Broek, A.C. (Jantine), Cappellen, W.A. (Gert) van, Cox, D. (David), Gruiter, H.M. (H. Martijn) de, Haasdijk, E.D. (Elize), Houtsmuller, A.B. (Adriaan), Lin, Z. (Zhanmin), Ozcan, S. (Sureyya), Spijker, H. (Heleen) van 't, Willemsen, R. (Rob), Zeeuw, C.I. (Chris) de   +11 more
core   +1 more source

Fragile X mental retardation protein interacts with TDG

Chinese Science Bulletin, 2000
Fragile X syndrome is the most common form of inherited mental retardation disease, resulting from absent of expression of its disease geneFMR1. To study the function of the fragile X mental retardation protein (FMRP) through protein/protein interaction, a mouse embryo cDNA library was screened by the yeast two-hybrid system.
J. L. Mandel, Yuting Chen, Yan Shen, Guanyun Wu, B. Bardoni, Ning Zhu, Ming Yu   +6 more
openaire   +2 more sources