Genetic and physical interaction between the NPHP5 and NPHP6 gene products
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Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingMapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathwaysCombining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisNephrocystin-3 is required for ciliary function in zebrafish embryosDisruption of CEP290 microtubule/membrane-binding domains causes retinal degenerationMechanisms of nephronophthisis and related ciliopathiesInvestigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndromeCP110 and its network of partners coordinately regulate cilia assembly.Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesisNephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo deliveryThe ciliary protein Nek8/Nphp9 acts downstream of Inv/Nphp2 during pronephros morphogenesis and left-right establishment in zebrafishCone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathyThe N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness.The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate.FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy.The ciliary transition zone: from morphology and molecules to medicineSuperresolution Pattern Recognition Reveals the Architectural Map of the Ciliary Transition ZoneSenior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.Current insights into renal ciliopathies: what can genetics teach us?Little fish, big catch: zebrafish as a model for kidney diseaseCiliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.Open Sesame: How Transition Fibers and the Transition Zone Control Ciliary Composition.Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.Early-Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black-Footed Cats (Felis nigripes).Zebrafish kidney development: basic science to translational research.Non-syndromic retinal ciliopathies: translating gene discovery into therapy.Interaction with the Bardet-Biedl gene product TRIM32/BBS11 modifies the half-life and localization of Glis2/NPHP7.Protein Interaction Analysis Provides a Map of the Spatial and Temporal Organization of the Ciliary Gating Zone.Toolbox in a tadpole: Xenopus for kidney research.Nephronophthisis: a genetically diverse ciliopathyCiliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation.Zebrafish as a Model for Drug Screening in Genetic Kidney Diseases.Genetic Renal Diseases: The Emerging Role of Zebrafish Models
P2860
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P2860
Genetic and physical interaction between the NPHP5 and NPHP6 gene products
description
2008 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2008
@ast
im Dezember 2008 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2008/12/01)
@sk
vědecký článek publikovaný v roce 2008
@cs
wetenschappelijk artikel (gepubliceerd op 2008/12/01)
@nl
наукова стаття, опублікована в грудні 2008
@uk
مقالة علمية (نشرت في ديسمبر 2008)
@ar
name
Genetic and physical interaction between the NPHP5 and NPHP6 gene products
@ast
Genetic and physical interaction between the NPHP5 and NPHP6 gene products
@en
Genetic and physical interaction between the NPHP5 and NPHP6 gene products
@nl
type
label
Genetic and physical interaction between the NPHP5 and NPHP6 gene products
@ast
Genetic and physical interaction between the NPHP5 and NPHP6 gene products
@en
Genetic and physical interaction between the NPHP5 and NPHP6 gene products
@nl
prefLabel
Genetic and physical interaction between the NPHP5 and NPHP6 gene products
@ast
Genetic and physical interaction between the NPHP5 and NPHP6 gene products
@en
Genetic and physical interaction between the NPHP5 and NPHP6 gene products
@nl
P2093
P2860
P50
P356
P1476
Genetic and physical interaction between the NPHP5 and NPHP6 gene products
@en
P2093
Astrid Bergbreiter
Athina Ganner
Christian Mattonet
Haribaskar Ramachandran
John A. Sayer
Martin Gerner
Michael Pütz
Peter G. Czarnecki
Tobias Schäfer
P2860
P304
P356
10.1093/HMG/DDN260
P577
2008-12-01T00:00:00Z