Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination
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A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescenceThe dynamic cilium in human diseasesA complex of BBS1 and NPHP7 is required for cilia motility in zebrafishExome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingNephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulinCandidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyAlpha-actinin associates with polycystin-2 and regulates its channel activityIndividuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathyBardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signalingMapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathwaysNephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargosNEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisisThe ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndromeDCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signalingNephrocystin-3 is required for ciliary function in zebrafish embryosLoss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasiaThe centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4The centrosomal kinase Plk1 localizes to the transition zone of primary cilia and induces phosphorylation of nephrocystin-1PKD2 interacts and co-localizes with mDia1 to mitotic spindles of dividing cells: role of mDia1 IN PKD2 localization to mitotic spindlesMutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.NephronophthisisMutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)Mechanisms of nephronophthisis and related ciliopathiesCC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndromeCerebellar development and diseaseCEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersThe Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndromeIdentification of ciliated sensory neuron-expressed genes in Caenorhabditis elegans using targeted pull-down of poly(A) tailsA novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic NephropathyCilia in autophagy and cancerThe role of primary cilia in the development and disease of the retinaThe kidney and planar cell polarity.Pavement cells: a model system for non-transcriptional auxin signalling and crosstalksOf mice and men: molecular genetics of congenital heart diseaseWnt and planar cell polarity signaling in cystic renal diseaseSpectrum of clinical diseases caused by disorders of primary ciliaThe polarity protein Inturned links NPHP4 to Daam1 to control the subapical actin network in multiciliated cells.Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transitionThe nonmotile ciliopathies.
P2860
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P2860
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination
description
2003 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 2003
@ast
im August 2003 veröffentlichter wissenschaftlicher Artikel
@de
scientific article (publication date: August 2003)
@en
vedecký článok (publikovaný 2003-08)
@sk
vědecký článek publikovaný v roce 2003
@cs
wetenschappelijk artikel (gepubliceerd in 2003-08)
@nl
наукова стаття, опублікована в серпні 2003
@uk
name
Mutations in INVS encoding inv ...... left-right axis determination
@ast
Mutations in INVS encoding inv ...... left-right axis determination
@en
Mutations in INVS encoding inv ...... left-right axis determination
@nl
type
label
Mutations in INVS encoding inv ...... left-right axis determination
@ast
Mutations in INVS encoding inv ...... left-right axis determination
@en
Mutations in INVS encoding inv ...... left-right axis determination
@nl
prefLabel
Mutations in INVS encoding inv ...... left-right axis determination
@ast
Mutations in INVS encoding inv ...... left-right axis determination
@en
Mutations in INVS encoding inv ...... left-right axis determination
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
Mutations in INVS encoding inv ...... left-right axis determination
@en
P2093
Adelheid M Mueller
Andreas Kispert
Daniel Landau
Frank Beekmann
Hubert Nivet
Iain A Drummond
John F O'Toole
John W Foreman
Judith A Goodship
P2860
P2888
P304
P3181
P356
10.1038/NG1217
P407
P577
2003-08-01T00:00:00Z