Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis
about
Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargosNEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisisInteraction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.NephronophthisisMKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesisNPHP4 variants are associated with pleiotropic heart malformations.Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathiesNPHP4 controls ciliary trafficking of membrane proteins and large soluble proteins at the transition zone.Nephronophthisis.Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans.Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern IrelandHow have the past 5 years of research changed clinical practice in paediatric nephrology?Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia.High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients.Nephronophthisis: a genetically diverse ciliopathyMutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility.Diverse phenotypic expression of NPHP4 mutations in four siblings.
P2860
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P2860
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis
description
2005 nî lūn-bûn
@nan
2005 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի ապրիլին 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
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis
@ast
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis
@en
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis
@nl
type
label
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis
@ast
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis
@en
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis
@nl
prefLabel
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis
@ast
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis
@en
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis
@nl
P2093
P356
P1433
P1476
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis
@en
P2093
Boris Utsch
Edgar Otto
John F O'Toole
Julia Hoefele
Massimo Attanasio
Ralf Sudbrak
Richard Reinhardt
Silvia Lehrack
Steffen Hennig
P356
10.1002/HUMU.9326
P407
P577
2005-04-01T00:00:00Z