Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
about
A systematic approach to mapping recessive disease genes in individuals from outbred populationsThe dynamic cilium in human diseasesExome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingCandidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyIndividuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathyMutation of POC1B in a severe syndromic retinal ciliopathyThe DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisisMutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndromeA common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesDCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signalingNephrocystin-3 is required for ciliary function in zebrafish embryosMainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutationsTOPORS, implicated in retinal degeneration, is a cilia-centrosomal proteinThe centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteinsInteraction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.NephronophthisisThe primary cilium as a cellular signaling center: lessons from diseaseMechanisms of nephronophthisis and related ciliopathiesCC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouseThe Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndromeThe role of primary cilia in the development and disease of the retinaThe enzymes of human diphosphoinositol polyphosphate metabolismMolecular complexes that direct rhodopsin transport to primary ciliaRPGRIP1 and cone-rod dystrophy in dogsSpectrum of clinical diseases caused by disorders of primary ciliaInvestigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndromeCRIS-a novel cAMP-binding protein controlling spermiogenesis and the development of flagellar bendingThe nonmotile ciliopathies.CP110 and its network of partners coordinately regulate cilia assembly.The Role of RPGR and Its Interacting Proteins in CiliopathiesNephronophthisis and related syndromesMultiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesisMutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotypeNephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo deliveryGenetic and physical interaction between the NPHP5 and NPHP6 gene productsInteraction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration
P2860
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P2860
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
description
2005 nî lūn-bûn
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2005 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի մարտին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Nephrocystin-5, a ciliary IQ d ...... racts with RPGR and calmodulin
@ast
Nephrocystin-5, a ciliary IQ d ...... racts with RPGR and calmodulin
@en
Nephrocystin-5, a ciliary IQ d ...... racts with RPGR and calmodulin
@en-gb
Nephrocystin-5, a ciliary IQ d ...... racts with RPGR and calmodulin
@nl
type
label
Nephrocystin-5, a ciliary IQ d ...... racts with RPGR and calmodulin
@ast
Nephrocystin-5, a ciliary IQ d ...... racts with RPGR and calmodulin
@en
Nephrocystin-5, a ciliary IQ d ...... racts with RPGR and calmodulin
@en-gb
Nephrocystin-5, a ciliary IQ d ...... racts with RPGR and calmodulin
@nl
prefLabel
Nephrocystin-5, a ciliary IQ d ...... racts with RPGR and calmodulin
@ast
Nephrocystin-5, a ciliary IQ d ...... racts with RPGR and calmodulin
@en
Nephrocystin-5, a ciliary IQ d ...... racts with RPGR and calmodulin
@en-gb
Nephrocystin-5, a ciliary IQ d ...... racts with RPGR and calmodulin
@nl
P2093
P2860
P50
P921
P3181
P356
P1433
P1476
Nephrocystin-5, a ciliary IQ d ...... racts with RPGR and calmodulin
@en
P2093
Andreas Kispert
Benjamin Margolis
Concepcion Lillo
David S Williams
Isao Kawakami
Jan Hellemans
John F O'Toole
Juliana Helou
P2860
P2888
P3181
P356
10.1038/NG1520
P407
P50
P577
2005-03-01T00:00:00Z
P5875
P6179
1009268439