FMR1, FMRP translational regulator 1, 2332

N. diseases: 29; N. variants: 9
Disease: Fragile X Syndrome ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CTD_human Fragile X Syndrome (FXS) occurs as a result of a silenced fragile X mental retardation 1 gene (<i>FMR1</i>) and subsequent loss of fragile X mental retardation protein (FMRP) expression. 28616095 2017
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CLINGEN This study suggests that intragenic FMR1 variants, although much less frequent than CGG expansions, are a significant mutational mechanism leading to FXS and demonstrates the interest of HTS approaches to detect them in ID patients with a negative standard work-up. 28176767 2017
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CLINGEN We screened a cohort of patients with typical FXS symptoms who tested negative for CGG repeat expansion in the FMR1 locus. 25693964 2015
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT These results reveal a presynaptic- and translation-independent function of FMRP that is linked to a specific subset of FXS phenotypes. 25561520 2015
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT In over two decades since the discovery of FMR1, only a single missense mutation (p.(Ile304Asn)) has been reported as causing fragile X syndrome. 24448548 2014
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT A point mutation (I304N) in the KH2 domain, identified from a Fragile X syndrome patient, disrupts the FMRP-nucleoprotein association and abolishes the ability of FMRP to participate in viral RNP assembly. 24514761 2014
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT These findings suggest that nuclear FMRP regulates genomic stability at the chromatin interface and may impact gametogenesis and some developmental aspects of fragile X syndrome. 24813610 2014
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CLINGEN In over two decades since the discovery of FMR1, only a single missense mutation (p.(Ile304Asn)) has been reported as causing fragile X syndrome. 24448548 2014
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT Fragile X syndrome is caused by loss of function of a single gene encoding the Fragile X Mental Retardation Protein (FMRP). 24204304 2013
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT FXS is typically caused by the loss of fragile X mental retardation 1 (FMR1) expression, which codes for the RNA-binding protein FMRP. 23235829 2012
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CTD_human Herein, we discuss the molecular mechanisms leading to FXS and the Prader-Willi phenotype with an emphasis on mouse FMR1 knockout studies that have shown the reversal of weight increase through mGluR antagonists. 22043169 2011
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CLINGEN We conclude that further studies including western blot and DNA sequence analysis of the FMR1 gene should be performed in patients with typical symptoms of fragile X syndrome in whom no CGG repeat expansion is detected. 21267007 2011
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CTD_human Mice with deletion of the fragile X mental retardation 1 (Fmr1) gene are used to model autism because loss of Fmr1 gene function causes Fragile X Syndrome (FXS) and many people with FXS exhibit autistic-like behaviors. 20300527 2010
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CLINGEN These mice phenocopy the symptoms of Fragile X Syndrome in the existing Fmr1-null mouse, as assessed by testicular size, behavioral phenotyping, and electrophysiological assays of synaptic plasticity. 20011099 2009
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CTD_human Subjects with FXS and fragile X mental retardation gene knock out (Fmr1 KO) mice, an animal model for FXS, have been shown to exhibit defects in dendritic spine maturation that may underlie cognitive and behavioural abnormalities in FXS. 18835858 2009
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT We propose a contribution of Tdrd3 to FMRP-mediated translational repression and suggest that the loss of the FMRP-Tdrd3 interaction caused by the I304N mutation might contribute to the pathogenesis of Fragile X syndrome. 18664458 2008
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation protein. 18093976 2008
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT Here, we present an X-ray crystal structure of the tandem KH domains of human FMRP, which reveals the relative orientation of the KH1 and KH2 domains and the location of residue Ile304, whose mutation to Asn is associated with a particularly severe incidence of Fragile X syndrome. 17850748 2007
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CTD_human Fragile X mental retardation protein (FMRP), the lack of which causes fragile X syndrome, is an RNA-binding protein encoded by the FMR1 gene. 16510718 2006
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CTD_human Contribution of mGluR and Fmr1 functional pathways to neurite morphogenesis, craniofacial development and fragile X syndrome. 17065172 2006
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT We conclude that mental retardation associated with the I304N mutation, and likely the Fragile-X syndrome more generally, may relate to a crucial role for RNAs harboring the kissing complex motif as targets for FMRP translational regulation. 15805463 2005
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CTD_human Fragile X-associated tremor/ataxia syndrome presenting in a woman after chemotherapy. 16043816 2005
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT Transport kinetics of FMRP containing the I304N mutation of severe fragile X syndrome in neurites of living rat PC12 cells. 15380484 2004
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 Biomarker disease CTD_human Fragile X syndrome is caused by the absence of the mRNA-binding protein Fragile X mental retardation protein (FMRP), which may play a role in activity-regulated localization and translation of mRNA in dendrites and at synapses. 15028757 2004
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		1.000 GeneticVariation disease UNIPROT We further suggest that the failure of FMRP to oligomerize, caused by the I304N mutation, may contribute to the pathophysiological events leading to fragile X syndrome. 11157796 2001