Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
about
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingNovel asymmetrically localizing components of human centrosomes identified by complementary proteomics methodsFAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathiesCep164, a novel centriole appendage protein required for primary cilium formationDisruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophyIndividuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathySpata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retinaMutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndromeCombining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisA common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesFunctional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteinsCEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary ciliumOFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinCiliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary diseaseNephronophthisisA splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosaCC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosaNovel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluationsCEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersThe Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndromeRetinal dystrophies, genomic applications in diagnosis and prospects for therapyPhotoreceptor Sensory Cilium: Traversing the Ciliary GateThe role of primary cilia in the development and disease of the retinaMutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literatureAAV-mediated gene therapy in mouse models of recessive retinal degenerationDawn of ocular gene therapy: implications for molecular diagnosis in retinal diseaseSpectrum of clinical diseases caused by disorders of primary ciliaCEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathiesInvestigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndromeAdvancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano SymposiumTrafficking in and to the primary cilium.Nephronophthisis and related syndromesBiology and therapy of inherited retinal degenerative disease: insights from mouse modelsMultiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).Genetic and physical interaction between the NPHP5 and NPHP6 gene productsComprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in DenmarkLumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosisBardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia
P2860
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P2860
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
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2006 nî lūn-bûn
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2006 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
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2006 թվականի սեպտեմբերին հրատարակված գիտական հոդված
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2006年の論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年论文
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Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
@ast
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
@en
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
@nl
type
label
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
@ast
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
@en
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
@nl
prefLabel
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
@ast
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
@en
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
@nl
P2093
P2860
P3181
P356
P1476
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
@en
P2093
Anneke I den Hollander
Carel B Hoyng
Frans P M Cremers
Han G Brunner
Irma Lopez
Klaus Rohrschneider
Krysta E J Voesenek
L Ingeborgh van den Born
Maarten L Arends
Marijke N Zonneveld
P2860
P304
P3181
P356
10.1086/507318
P407
P577
2006-09-01T00:00:00Z