CCDC22: a novel candidate gene for syndromic X-linked intellectual disability
about
Recruitment of the endosomal WASH complex is mediated by the extended 'tail' of Fam21 binding to the retromer protein Vps35COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7ACCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signalingXLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencingX-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesRetromer-mediated endosomal protein sorting: all WASHed up!The Biochemical Evolution of Protein ComplexesMissense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndromeGenome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders.Endosomal sorting of Notch receptors through COMMD9-dependent pathways modulates Notch signaling.Panorama of ancient metazoan macromolecular complexesRetromer-mediated endosomal protein sorting: The role of unstructured domains.Systems-wide Studies Uncover Commander, a Multiprotein Complex Essential to Human Development.News on the molecular regulation and function of hepatic low-density lipoprotein receptor and LDLR-related protein 1.FOXP3 rs3761548 polymorphism is associated with tacrolimus-induced acute nephrotoxicity in renal transplant patients.Endosomal Receptor Trafficking: Retromer and Beyond.Proteomics analysis of Xenopus laevis gonad tissue following chronic exposure to atrazine.Proteomic and Biochemical Comparison of the Cellular Interaction Partners of Human VPS33A and VPS33B.Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature
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CCDC22: a novel candidate gene for syndromic X-linked intellectual disability
description
2011 nî lūn-bûn
@nan
2011 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2011年の論文
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2011年論文
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2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
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2011年论文
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name
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability
@ast
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability
@en
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability
@nl
type
label
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability
@ast
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability
@en
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability
@nl
prefLabel
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability
@ast
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability
@en
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability
@nl
P2093
P2860
P50
P356
P1433
P1476
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability
@en
P2093
D Geschwind
P2860
P2888
P356
10.1038/MP.2011.95
P407
P577
2011-08-09T00:00:00Z