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Fragile X mental retardation protein expression in Alzheimer’s disease [PDF]
Frontiers in Genetics, 2014 The FMR1 protein product, FMRP, is an mRNA binding protein associated with translational inhibition of target transcripts. One FMRP target is the amyloid precursor protein (APP) mRNA, and APP levels are elevated in Fmr1 KO mice. Given that elevated APP
Abigail J Renoux +4 more
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Role of microRNA Pathway in Mental Retardation [PDF]
The Scientific World Journal, 2007 Deficits in cognitive functions lead to mental retardation (MR). Understanding the genetic basis of inherited MR has provided insights into the pathogenesis of MR.
Abrar Qurashi, Shuang Chang, Peng Jin
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Focal areas of a high rate of fragile X in Indonesia: a long term follow up [PDF]
Journal of Biomedicine and Translational Research, 2019 Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability (ID) and a leading cause of autism spectrum disorder (ASD). FXS is caused by an expansion of CGG repeats >200 in the 5′ untranslated region of the promotor region ...
Sultana MH Faradz, Tri Indah Winarni
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The tandem Agenet domain of fragile X mental retardation protein interacts with FUS [PDF]
Scientific Reports, 2017 The tandem Agenet domain (TAD) of fragile X mental retardation protein (FMRP) protein is considered to be a member of the methyl-lysine-binding Tudor domain “Royal family”.
Qingzhong He, Wei Ge
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An “Omic” Overview of Fragile X Syndrome
Biology, 2021 Fragile X syndrome (FXS) is a neurodevelopmental disorder associated with a wide range of cognitive, behavioral and medical problems. It arises from the silencing of the fragile X mental retardation 1 (FMR1) gene and, consequently, in the absence of its ...
Olivier Dionne, François Corbin
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Frontiers in Cellular Neuroscience, 2022 Fragile X syndrome (FXS) is an inherited intellectual disability caused by a deficiency in Fragile X mental retardation 1 (Fmr1) gene expression. Recent studies have proposed the importance of cytoplasmic polyadenylation element-binding protein 1 (CPEB1)
Souichi Oe +11 more
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Different Clinical Faces of the Same Gene Mutation: Fragile X Mental Retardation 1 Disorders
Türk Nöroloji Dergisi, 2021 The fragile X mental retardation 1 gene located on the X-chromosome plays a role in protein synthesis of the same name (fragile X mental retardation protein).
Burcu Asma +2 more
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Cardiovascular Problems in the Fragile X Premutation
Frontiers in Genetics, 2020 There is a dearth of information about cardiovascular problems in fragile X premutation carriers who have 55–200 CGG repeats in fragile X mental retardation 1 (FMR1) gene.
Nattaporn Tassanakijpanich +6 more
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Comprehensive analysis of ultrasonic vocalizations in a mouse model of fragile X syndrome reveals limited, call type specific deficits. [PDF]
PLoS ONE, 2012 Fragile X syndrome (FXS) is a well-recognized form of inherited mental retardation, caused by a mutation in the fragile X mental retardation 1 (Fmr1) gene.
Snigdha Roy, Nick Watkins, Detlef Heck
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Fmrp Interacts with Adar and Regulates RNA Editing, Synaptic Density and Locomotor Activity in Zebrafish. [PDF]
PLoS Genetics, 2015 Fragile X syndrome (FXS) is the most frequent inherited form of mental retardation. The cause for this X-linked disorder is the silencing of the fragile X mental retardation 1 (fmr1) gene and the absence of the fragile X mental retardation protein (Fmrp).
Adi Shamay-Ramot +10 more
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