Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia
about
Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mappingExome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingAn ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary ciliumA meckelin-filamin A interaction mediates ciliogenesisA common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesFunctional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteinsNephrocystin-3 is required for ciliary function in zebrafish embryosCiliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3NephronophthisisThe role of primary cilia in neuronal functionThe primary cilium as a cellular signaling center: lessons from diseaseMechanisms of nephronophthisis and related ciliopathiesThe role of primary cilia in the development and disease of the retinaARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopiesCongenital heart disease: emerging themes linking genetics and developmentWnt and planar cell polarity signaling in cystic renal diseaseThe polarity protein Inturned links NPHP4 to Daam1 to control the subapical actin network in multiciliated cells.Effects of TORC1 Inhibition during the Early and Established Phases of Polycystic Kidney DiseaseMouse models of ciliopathies: the state of the art.The nonmotile ciliopathies.Nephronophthisis and related syndromesDisruption of a ciliary B9 protein complex causes Meckel syndromeNephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6The ciliary protein nephrocystin-4 translocates the canonical Wnt regulator Jade-1 to the nucleus to negatively regulate β-catenin signalingGenetic and physical interaction between the NPHP5 and NPHP6 gene productsA simple cell-based assay reveals that diverse neuropsychiatric risk genes converge on primary ciliaImpaired 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 developmentTargeting of Nphp3 to the primary cilia is controlled by an N-terminal myristoylation site and coiled-coil domainsPlanar cell polarity signaling: from fly development to human diseaseThe primary cilium: a signalling centre during vertebrate developmentThe vertebrate primary cilium in development, homeostasis, and diseaseCiliopathiesWnt Signaling in Kidney DiseaseThe Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.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 Nek8Nephronophthisis: disease mechanisms of a ciliopathy.Renal dysplasia characterized by prominent cartilaginous metaplasia lesions in VACTERL association: A case report.Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies
P2860
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P248
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P2860
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia
description
2008 nî lūn-bûn
@nan
2008 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի ապրիլին 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
Loss of nephrocystin-3 functio ...... l-hepatic-pancreatic dysplasia
@ast
Loss of nephrocystin-3 functio ...... l-hepatic-pancreatic dysplasia
@en
Loss of nephrocystin-3 functio ...... l-hepatic-pancreatic dysplasia
@en-gb
Loss of nephrocystin-3 functio ...... l-hepatic-pancreatic dysplasia
@nl
type
label
Loss of nephrocystin-3 functio ...... l-hepatic-pancreatic dysplasia
@ast
Loss of nephrocystin-3 functio ...... l-hepatic-pancreatic dysplasia
@en
Loss of nephrocystin-3 functio ...... l-hepatic-pancreatic dysplasia
@en-gb
Loss of nephrocystin-3 functio ...... l-hepatic-pancreatic dysplasia
@nl
prefLabel
Loss of nephrocystin-3 functio ...... l-hepatic-pancreatic dysplasia
@ast
Loss of nephrocystin-3 functio ...... l-hepatic-pancreatic dysplasia
@en
Loss of nephrocystin-3 functio ...... l-hepatic-pancreatic dysplasia
@en-gb
Loss of nephrocystin-3 functio ...... l-hepatic-pancreatic dysplasia
@nl
P2093
P2860
P50
P921
P3181
P1476
Loss of nephrocystin-3 functio ...... l-hepatic-pancreatic dysplasia
@en
P2093
Andreas Kispert
Bettina Kränzlin
Carsten Bergmann
Cecilia Lo
Christian Becker
Gundula Girschick
Ingolf Schmedding
Manfred Fliegauf
Nadina Ortiz Brüchle
P2860
P304
P3181
P356
10.1016/J.AJHG.2008.02.017
P407
P50
P577
2008-04-01T00:00:00Z