about
A systematic approach to mapping recessive disease genes in individuals from outbred populationsA complex of BBS1 and NPHP7 is required for cilia motility in zebrafishCep164, a novel centriole appendage protein required for primary cilium formationCandidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyUromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expressionNephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammalsIndividuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathyCEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the ciliumNephrocystin-3 is required for ciliary function in zebrafish embryosThe centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSomeNephronophthisisLiver and kidney disease in ciliopathiesStructure and function of mammalian ciliaTransient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiationARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopiesThe nephronophthisis-related gene ift-139 is required for ciliogenesis in Caenorhabditis elegansThe nonmotile ciliopathies.Cilium assembly and disassemblyGenetic and physical interaction between the NPHP5 and NPHP6 gene productsImpaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathyKruppel-like zinc finger protein Glis2 is essential for the maintenance of normal renal functionsAlström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity.Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotideRenal failure, mental retardation and eponymous confusionPlanar cell polarity signaling: from fly development to human diseaseMutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia DefectsCiliopathiesZebrafish mutations affecting cilia motility share similar cystic phenotypes and suggest a mechanism of cyst formation that differs from pkd2 morphants.Chemically inducible diffusion trap at cilia reveals molecular sieve-like barrier.NPHP4 variants are associated with pleiotropic heart malformations.A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8Microarray-based approach identifies microRNAs and their target functional patterns in polycystic kidney diseaseClinical and molecular features of Joubert syndrome and related disorders.Joubert syndrome: insights into brain development, cilium biology, and complex disease.Polycystic kidney disease.Juvenile nephronophthisis and dysthyroidism: a rare associationStructural and functional analyses of liver cysts from the BALB/c-cpk mouse model of polycystic kidney diseaseReduced Notch signaling leads to renal cysts and papillary microadenomas.
P2860
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P2860
description
2007 nî lūn-bûn
@nan
2007 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Nephronophthisis-associated ciliopathies.
@ast
Nephronophthisis-associated ciliopathies.
@en
Nephronophthisis-associated ciliopathies.
@nl
type
label
Nephronophthisis-associated ciliopathies.
@ast
Nephronophthisis-associated ciliopathies.
@en
Nephronophthisis-associated ciliopathies.
@nl
prefLabel
Nephronophthisis-associated ciliopathies.
@ast
Nephronophthisis-associated ciliopathies.
@en
Nephronophthisis-associated ciliopathies.
@nl
P356
P1476
Nephronophthisis-associated ciliopathies.
@en
P2093
Friedhelm Hildebrandt
Weibin Zhou
P304
P356
10.1681/ASN.2006121344
P577
2007-05-18T00:00:00Z