CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa
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Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzleCiliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlationAddendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosaThe role of primary cilia in the development and disease of the retinaConserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary SignalingThe nonmotile ciliopathies.Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental MechanismsCiliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesisCiliopathiesSelection of suitable housekeeping genes for expression analysis in glioblastoma using quantitative RT-PCRClinical and molecular features of Joubert syndrome and related disorders.Novel approaches to studying the genetic basis of cerebellar developmentHuman genetic disorders of axon guidance.Mutations in C5ORF42 cause Joubert syndrome in the French Canadian populationThe genetic basis of non-syndromic intellectual disability: a reviewCiliopathies: an expanding disease spectrum.B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysisThe ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking.Joubert syndrome: report of 11 casesPCAN: phenotype consensus analysis to support disease-gene association.Joubert Syndrome in French Canadians and Identification of Mutations in CEP104Mutation spectrum of Joubert syndrome and related disorders among Arabs.NFκB signaling regulates embryonic and adult neurogenesis.The molecular motor Myosin Va interacts with the cilia-centrosomal protein RPGRIP1L.The molecular basis of retinal dystrophies in pakistan.Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system developmentMolecular investigation of mental retardation locus gene PRSS12 by linkage analysis.Photoreceptor Cilia and Retinal Ciliopathies.First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing.Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis.Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.Systems genetics analysis of pharmacogenomics variation during antidepressant treatment.Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay
P2860
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P2860
CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa
description
2008 nî lūn-bûn
@nan
2008 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
CC2D2A, encoding a coiled-coil ...... tion with retinitis pigmentosa
@ast
CC2D2A, encoding a coiled-coil ...... tion with retinitis pigmentosa
@en
CC2D2A, encoding a coiled-coil ...... tion with retinitis pigmentosa
@nl
type
label
CC2D2A, encoding a coiled-coil ...... tion with retinitis pigmentosa
@ast
CC2D2A, encoding a coiled-coil ...... tion with retinitis pigmentosa
@en
CC2D2A, encoding a coiled-coil ...... tion with retinitis pigmentosa
@nl
prefLabel
CC2D2A, encoding a coiled-coil ...... tion with retinitis pigmentosa
@ast
CC2D2A, encoding a coiled-coil ...... tion with retinitis pigmentosa
@en
CC2D2A, encoding a coiled-coil ...... tion with retinitis pigmentosa
@nl
P2093
P2860
P1476
CC2D2A, encoding a coiled-coil ...... tion with retinitis pigmentosa
@en
P2093
Abdul Noor
Anna Mikhailov
Beata Stachowiak
Farooq Naeem
John B Vincent
Matloob Azam
Megha Patel
Muhammad Ayub
Muhammad Irfan
Muhammad Lutfullah
P2860
P304
P356
10.1016/J.AJHG.2008.01.021
P407
P577
2008-04-01T00:00:00Z