A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.
about
Identification of the gene encoding Brain Cell Membrane Protein 1 (BCMP1), a putative four-transmembrane protein distantly related to the Peripheral Myelin Protein 22 / Epithelial Membrane Proteins and the ClaudinsIdentification of a novel brain-specific and Reelin-regulated gene that encodes a protein colocalized with synapsinEWI-2 is a new component of the tetraspanin web in hepatocytes and lymphoid cellsThe novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardationTM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutationXLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencingSpecific tetraspanin functionsMapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneityA third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patientsX chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation.Congruence of tissue expression profiles from Gene Expression Atlas, SAGEmap and TissueInfo databasesTetraspanins and Transmembrane Adaptor Proteins As Plasma Membrane Organizers-Mast Cell CaseTetraspanins in viral infections: a fundamental role in viral biology?Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplicationsExpression and Subcellular Distribution of GFP-Tagged Human Tetraspanin Proteins in Saccharomyces cerevisiaeCysteine residues in the large extracellular loop (EC2) are essential for the function of the stress-regulated glycoprotein M6aCharacterization of mice lacking the tetraspanin superfamily member CD151Developmental vulnerability of synapses and circuits associated with neuropsychiatric disorders.Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT.Origin and evolution of candidate mental retardation genes on the human X chromosome (MRX)Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.Functional identification of neuroprotective molecules.Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardationPalmitoylation of tetraspanin proteins: modulation of CD151 lateral interactions, subcellular distribution, and integrin-dependent cell morphology.MRX review.Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4.Genomewide analysis of the Drosophila tetraspanins reveals a subset with similar function in the formation of the embryonic synapse.The genetic basis of non-syndromic intellectual disability: a reviewIn search of the MRX genes.Microdomains in the membrane landscape shape antigen-presenting cell function.ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal.Genetic effects on human cognition: lessons from the study of mental retardation syndromesReplication study confirms link between TSPAN18 mutation and schizophrenia in Han ChineseTetraspanins as regulators of the tumour microenvironment: implications for metastasis and therapeutic strategies.Lateral organization of membrane proteins: tetraspanins spin their web.Genomic medicine and neurological disease.Effects of ectopic Nanog and Oct4 overexpression on mesenchymal stem cellsIdentification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardationLack of Association between the TSPAN18 Gene and Schizophrenia Based on New Data from Han Chinese and a Meta-Analysis.Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
P2860
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P2860
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.
description
2000 nî lūn-bûn
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2000 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի փետրվարին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
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2000年论文
@wuu
name
A new gene involved in X-linke ...... an X;2 balanced translocation.
@ast
A new gene involved in X-linke ...... an X;2 balanced translocation.
@en
type
label
A new gene involved in X-linke ...... an X;2 balanced translocation.
@ast
A new gene involved in X-linke ...... an X;2 balanced translocation.
@en
prefLabel
A new gene involved in X-linke ...... an X;2 balanced translocation.
@ast
A new gene involved in X-linke ...... an X;2 balanced translocation.
@en
P2093
P2860
P50
P356
P1433
P1476
A new gene involved in X-linke ...... an X;2 balanced translocation
@en
P2093
Beldjord C
Bienvenu T
Fauchereau F
Friocourt G
P2860
P2888
P304
P356
10.1038/72829
P407
P577
2000-02-01T00:00:00Z