Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71
about
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophyZebrafish: a vertebrate tool for studying basal body biogenesis, structure, and functionRetinal dystrophies, genomic applications in diagnosis and prospects for therapyThe role of primary cilia in the development and disease of the retinaAnimals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degenerationUsher syndrome: Hearing loss, retinal degeneration and associated abnormalities.The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness.Mechanisms of prickle1a function in zebrafish epilepsy and retinal neurogenesisA novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1.Stage and gene specific signatures defined by histones H3K4me2 and H3K27me3 accompany mammalian retina maturation in vivo.The genetics of eye disorders in the dogFunctional analysis of BBS3 A89V that results in non-syndromic retinal degenerationNovel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigreeMutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families.Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.Genetics of Hearing Loss: SyndromicHypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.Non-syndromic retinal ciliopathies: translating gene discovery into therapy.Gene expression changes during retinal development and rod specification.The zebrafish eye-a paradigm for investigating human ocular genetics.Photoreceptor Cilia and Retinal Ciliopathies.Automated, high-throughput, in vivo analysis of visual function using the zebrafish.Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatmentDetection of novel genetic variation in autosomal dominant retinitis pigmentosa.Progressive retinal atrophy in the Polski Owczarek Nizinny dog: a clinical and genetic study.Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.C2orf71a/pcare1 is important for photoreceptor outer segment morphogenesis and visual function in zebrafish.
P2860
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P2860
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71
description
2010 nî lūn-bûn
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2010 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2010 թվականի մայիսին հրատարակված գիտական հոդված
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2010年の論文
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2010年学术文章
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2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
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name
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71
@ast
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71
@en
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71
@en-gb
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71
@nl
type
label
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71
@ast
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71
@en
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71
@en-gb
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71
@nl
prefLabel
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71
@ast
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71
@en
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71
@en-gb
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71
@nl
P2093
P2860
P50
P921
P3181
P1476
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71
@en
P2093
Almudena Avila-Fernandez
Darryl Y Nishimura
Ines Pereiro
Lisa M Baye
Rahat Perveen
P2860
P304
P3181
P356
10.1016/J.AJHG.2010.03.005
P407
P50
P577
2010-04-15T00:00:00Z