Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Fragile X syndrome is caused by the absence of the fragile X mental retardation protein (FMRP).
|
10196376 |
1999 |
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 |
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 |
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 |
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 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Fragile X mental retardation syndrome is caused by the unstable expansion of a CGG repeat in the FMR-1 gene.
|
8401578 |
1993 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Fragile X mental retardation syndrome is caused by the unstable expansion of a CGG repeat in the FMR-1 gene.
|
8401578 |
1993 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.
|
8069307 |
1994 |
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 |
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 |
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 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Fragile X-associated tremor/ataxia syndrome presenting in a woman after chemotherapy.
|
16043816 |
2005 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Furthermore, they strengthen the connection between fragile X syndrome and loss of the RNA binding activity of FMR1.
|
8156595 |
1994 |
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 |
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 |
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 |
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 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
In the absence of FMRP, these same mRNAs may be partially translated via alternative mRNPs, although perhaps abnormally localized or regulated, resulting in typical fragile X syndrome.
|
9659908 |
1997 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In the absence of FMRP, these same mRNAs may be partially translated via alternative mRNPs, although perhaps abnormally localized or regulated, resulting in typical fragile X syndrome.
|
9659908 |
1997 |
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 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Male patients with fragile X syndrome lack FMR1 protein due to silencing of the FMR1 gene by amplification of a CGG repeat and subsequent methylation of the promoter region.
|
8033209 |
1994 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.
|
1675488 |
1991 |
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 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Our results suggest that mutations in FMR-1 are directly responsible for fragile X syndrome, irrespective of possible secondary effects caused by FRAXA.
|
8490650 |
1993 |