about
Single-Nucleotide Mutations in FMR1 Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRPEmerging pharmacologic treatment options for fragile X syndromeRepeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disordersTherapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and BackStudy of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 GeneFragile X mental retardation protein: A paradigm for translational control by RNA-binding proteinsIndependent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizuresC9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.A 3' untranslated region variant in FMR1 eliminates neuronal activity-dependent translation of FMRP by disrupting binding of the RNA-binding protein HuRHuman FMRP contains an integral tandem Agenet (Tudor) and KH motif in the amino terminal domain.Crystal structure reveals specific recognition of a G-quadruplex RNA by a β-turn in the RGG motif of FMRP.Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline.Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.Fragile X syndrome: an overview and update of the FMR1 gene.In Silico Analysis of FMR1 Gene Missense SNPs.Fragile X syndrome and fragile X-associated disorders.Most Martin-Bell syndrome (FMR1-related disorder) Venezuelan patients did not show CGG expansion but instead display genetic heterogeneity.Sumoylation regulates FMRP-mediated dendritic spine elimination and maturation.Of Men and Mice: Modeling the Fragile X Syndrome.Rare FMR1 gene mutations causing fragile X syndrome: A review.Fragile X syndrome
P2860
Q26773167-A0086D15-ECF2-4452-BB35-5DE8CE33D3D2Q26829152-61BFC38E-5BA2-472D-A4DF-81CAFF4D5845Q27011565-10AAEB94-6AEA-44B4-8D28-75210562A891Q27337360-F8B3F9CE-E50C-4867-9D6D-1E26CF573DA8Q28077015-EA0987BD-60ED-4898-A2D3-ED0FA75C0E22Q28086823-6601AD28-0F93-4506-8E7A-E6526D0CE765Q28115339-209FBB63-5D28-4BA1-BE66-0FC696D2D036Q34167443-52B17474-2B65-4D68-9849-913729998A3BQ34501231-93D9BB08-3F83-4353-B5B6-6A3950B0291EQ35239377-24698974-8C22-4E10-8D9B-7C5D0CA21AD1Q36120228-B069D233-61B8-4533-88AB-94CA4457741EQ36851447-45A5CF02-1010-4E27-85A3-9AC02E0E9D3EQ39125843-38B1D96F-B26D-4248-A314-FFC7FFE5B630Q39375765-6F4B5781-7D07-4296-9A4D-4E0A1836B5BAQ39994872-FA3B6CB1-E311-4A94-B39A-BB7A31D725A4Q47140616-74C3D4DE-A59E-4C7B-96A6-7EF8EE50CB18Q47920957-6163EE0A-4861-4FAC-A04C-C7B710E9EA4BQ50301336-20D7E03B-89F7-4223-9060-ECCED40DA048Q53422584-468A8869-F42F-49BC-898E-04C7BB9B3C63Q53497867-1FCF1688-2F64-4A0D-A59F-BC526ED5E170Q57828399-17C182D3-BADF-438F-81F8-ADAD6D63C407
P2860
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Fragile X syndrome due to a missense mutation.
@ast
Fragile X syndrome due to a missense mutation.
@en
Fragile X syndrome due to a missense mutation.
@nl
type
label
Fragile X syndrome due to a missense mutation.
@ast
Fragile X syndrome due to a missense mutation.
@en
Fragile X syndrome due to a missense mutation.
@nl
prefLabel
Fragile X syndrome due to a missense mutation.
@ast
Fragile X syndrome due to a missense mutation.
@en
Fragile X syndrome due to a missense mutation.
@nl
P2093
P2860
P356
P1476
Fragile X syndrome due to a missense mutation.
@en
P2093
Leila K Myrick
Mika Nakamoto-Kinoshita
Noralane M Lindor
Salman Kirmani
Stephen T Warren
Xiaodong Cheng
P2860
P2888
P304
P356
10.1038/EJHG.2013.311
P577
2014-01-22T00:00:00Z