BBS mutations modify phenotypic expression of CEP290-related ciliopathies
about
Disruption of CEP290 microtubule/membrane-binding domains causes retinal degenerationHuman basal body basicsProgress and prospects of next-generation sequencing testing for inherited retinal dystrophyCEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathiesConserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary SignalingNew frontiers: discovering cilia-independent functions of cilia proteinsNephronophthisis and related syndromesNephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo deliveryCentriolar satellites: key mediators of centrosome functionsFunctional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms.The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate.Loss of Raf-1 kinase inhibitory protein delays early-onset severe retinal ciliopathy in Cep290rd16 mouse.Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 functionDepletion of BBS Protein LZTFL1 Affects Growth and Causes Retinal Degeneration in Mice.Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl SyndromeCiliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.Drosophila sensory cilia lacking MKS proteins exhibit striking defects in development but only subtle defects in adults.Primary cilia in neurodevelopmental disorders.Next-generation sequencing for research and diagnostics in kidney disease.Genetic modifiers and oligogenic inheritance.Unmasking the ciliopathies: craniofacial defects and the primary cilium.Systematic analysis of human telomeric dysfunction using inducible telosome/shelterin CRISPR/Cas9 knockout cellsStructural basis for membrane targeting of the BBSome by ARL6CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype.Protein interaction perturbation profiling at amino-acid resolution.Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye.Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model.BBSome trains remove activated GPCRs from cilia by enabling passage through the transition zone.
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P2860
BBS mutations modify phenotypic expression of CEP290-related ciliopathies
description
2014 nî lūn-bûn
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2014 թուականի Յունուարին հրատարակուած գիտական յօդուած
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2014 թվականի հունվարին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年论文
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BBS mutations modify phenotypic expression of CEP290-related ciliopathies
@ast
BBS mutations modify phenotypic expression of CEP290-related ciliopathies
@en
BBS mutations modify phenotypic expression of CEP290-related ciliopathies
@en-gb
BBS mutations modify phenotypic expression of CEP290-related ciliopathies
@nl
type
label
BBS mutations modify phenotypic expression of CEP290-related ciliopathies
@ast
BBS mutations modify phenotypic expression of CEP290-related ciliopathies
@en
BBS mutations modify phenotypic expression of CEP290-related ciliopathies
@en-gb
BBS mutations modify phenotypic expression of CEP290-related ciliopathies
@nl
prefLabel
BBS mutations modify phenotypic expression of CEP290-related ciliopathies
@ast
BBS mutations modify phenotypic expression of CEP290-related ciliopathies
@en
BBS mutations modify phenotypic expression of CEP290-related ciliopathies
@en-gb
BBS mutations modify phenotypic expression of CEP290-related ciliopathies
@nl
P2093
P2860
P50
P921
P3181
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P1476
BBS mutations modify phenotypic expression of CEP290-related ciliopathies
@en
P2093
Charles C Searby
Kevin Bugge
Qihong Zhang
Sajag Bhattarai
P2860
P3181
P356
10.1093/HMG/DDT394
P407
P577
2013-08-13T00:00:00Z