The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation
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Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardationA defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardationCC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosaThe Mammalian Orthologs of Drosophila Lgd, CC2D1A and CC2D1B, Function in the Endocytic Pathway, but Their Individual Loss of Function Does Not Affect Notch SignallingDiscovery of Rare Mutations in Autism: Elucidating Neurodevelopmental MechanismsA truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephalyDifferential repression by freud-1/CC2D1A at a polymorphic site in the dopamine-D2 receptor geneFreud-2/CC2D1B mediates dual repression of the serotonin-1A receptor geneMETTL23, a transcriptional partner of GABPA, is essential for human cognition.Interaction and antagonistic roles of NF-κB and Hes6 in the regulation of cortical neurogenesis.Complex aetiology of an apparently Mendelian form of mental retardation.Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disabilityCC2D1A, a DM14 and C2 domain protein, activates NF-kappaB through the canonical pathwayThe genetic basis of non-syndromic intellectual disability: a reviewHigh-resolution genomic microarrays for X-linked mental retardation.Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation.CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.Exome sequencing and the genetics of intellectual disability.tSNP-based identification of allelic loss of gene expression in a patient with a balanced chromosomal rearrangement.New perspectives for the elucidation of genetic disordersFreud-1/Aki1, a novel PDK1-interacting protein, functions as a scaffold to activate the PDK1/Akt pathway in epidermal growth factor signalingA defect in the TUSC3 gene is associated with autosomal recessive mental retardationLethal giant discs, a novel C2-domain protein, restricts notch activation during endocytosis.Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation.TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotypeThe Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.Coupling an EML4-ALK-centric interactome with RNA interference identifies sensitizers to ALK inhibitors.Structural Basis for Regulation of ESCRT-III Complexes by Lgd.Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.Molecular investigation of mental retardation locus gene PRSS12 by linkage analysis.Protein implicated in nonsyndromic mental retardation regulates protein kinase A (PKA) activity.Cereblon negatively regulates TLR4 signaling through the attenuation of ubiquitination of TRAF6.Temporal and spatial mouse brain expression of cereblon, an ionic channel regulator involved in human intelligence.Human Freud-2/CC2D1B: a novel repressor of postsynaptic serotonin-1A receptor expression.Cc2d1a, a C2 domain containing protein linked to nonsyndromic mental retardation, controls functional maturation of central synapsesA novel microdeletion/microduplication syndrome of 19p13.13.Identification of an elaborate complex mediating postsynaptic inhibition.Traffic jams and the complex role of α-Synuclein aggregation in Parkinson disease.Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
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P2860
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation
description
2006 nî lūn-bûn
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2006 թուականի Մարտին հրատարակուած գիտական յօդուած
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2006 թվականի մարտին հրատարակված գիտական հոդված
@hy
2006年の論文
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2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
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2006年論文
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2006年论文
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name
The CC2D1A, a member of a new ...... n-syndromic mental retardation
@ast
The CC2D1A, a member of a new ...... n-syndromic mental retardation
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The CC2D1A, a member of a new ...... n-syndromic mental retardation
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type
label
The CC2D1A, a member of a new ...... n-syndromic mental retardation
@ast
The CC2D1A, a member of a new ...... n-syndromic mental retardation
@en
The CC2D1A, a member of a new ...... n-syndromic mental retardation
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prefLabel
The CC2D1A, a member of a new ...... n-syndromic mental retardation
@ast
The CC2D1A, a member of a new ...... n-syndromic mental retardation
@en
The CC2D1A, a member of a new ...... n-syndromic mental retardation
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P2093
P2860
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The CC2D1A, a member of a new ...... n-syndromic mental retardation
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P2093
D Bercovich
L Basel-Vanagaite
P2860
P304
P3181
P356
10.1136/JMG.2005.035709
P407
P577
2006-03-01T00:00:00Z