Jouberin localizes to collecting ducts and interacts with nephrocystin-1
about
Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mappingOFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinThe Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactionsNephronophthisisMutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290RPGRIP1 and cone-rod dystrophy in dogsInvestigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndromeMouse models of ciliopathies: the state of the art.The nonmotile ciliopathies.Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathyModelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal developmentAHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisisAhi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle traffickingPrimary Cilia as a Possible Link between Left-Right Asymmetry and Neurodevelopmental Diseases.Joubert syndrome: insights into brain development, cilium biology, and complex disease.Laminin-511 and integrin beta-1 in hair follicle development and basal cell carcinoma formationCiliopathies: an expanding disease spectrum.Subcellular spatial regulation of canonical Wnt signalling at the primary ciliumThe ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells.Modeling human disease in humans: the ciliopathies.Cell polarity and cystic kidney disease.Nephronophthisis: a genetically diverse ciliopathyGenetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypesInteraction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas.NGAL as an early biomarker of kidney disease in Joubert syndrome: three brothers compared.
P2860
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P2860
Jouberin localizes to collecting ducts and interacts with nephrocystin-1
description
2008 nî lūn-bûn
@nan
2008 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Jouberin localizes to collecting ducts and interacts with nephrocystin-1
@ast
Jouberin localizes to collecting ducts and interacts with nephrocystin-1
@en
Jouberin localizes to collecting ducts and interacts with nephrocystin-1
@en-gb
Jouberin localizes to collecting ducts and interacts with nephrocystin-1
@nl
type
label
Jouberin localizes to collecting ducts and interacts with nephrocystin-1
@ast
Jouberin localizes to collecting ducts and interacts with nephrocystin-1
@en
Jouberin localizes to collecting ducts and interacts with nephrocystin-1
@en-gb
Jouberin localizes to collecting ducts and interacts with nephrocystin-1
@nl
prefLabel
Jouberin localizes to collecting ducts and interacts with nephrocystin-1
@ast
Jouberin localizes to collecting ducts and interacts with nephrocystin-1
@en
Jouberin localizes to collecting ducts and interacts with nephrocystin-1
@en-gb
Jouberin localizes to collecting ducts and interacts with nephrocystin-1
@nl
P2093
P356
P1433
P1476
Jouberin localizes to collecting ducts and interacts with nephrocystin-1
@en
P2093
Christos Gabrielides
Colin A Johnson
John A Sayer
Lorraine Eley
Matthew Adams
P2888
P304
P356
10.1038/KI.2008.377
P407
P577
2008-11-01T00:00:00Z
P5875
P6179
1002297848