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1 itical role in polycystic kidney disease and nephronophthisis.
2 gous NPHP1 deletion, a common contributor to nephronophthisis.
3 y defects seen in renal ciliopathies such as nephronophthisis.
4 res of polycystic kidney disease, especially nephronophthisis.
5 in the human juvenile cystic kidney disease, nephronophthisis.
6 ariability in retinal phenotypes observed in nephronophthisis.
7 dividuals with the hereditary kidney disease nephronophthisis.
8 onic kidney disease with features resembling nephronophthisis.
9 est that oligogenicity may occur in cases of nephronophthisis.
10 an one gene may also be detected in cases of nephronophthisis.
11 tify mutations in the gene CEP290 as causing nephronophthisis.
12 racterized by Leber congenital amaurosis and nephronophthisis.
13 ng autosomal dominant and recessive PKD, and nephronophthisis.
14 in this gene were previously associated with nephronophthisis 15, thus the current results expand the
17 liary gene were previously reported to cause nephronophthisis, a chronic tubulointerstitial nephropat
18 ne are the most frequent molecular defect of nephronophthisis, a kidney ciliopathy and leading cause
19 tein product of the gene mutated in juvenile nephronophthisis, an autosomal recessive cystic kidney d
21 Mutations of SDCCAG8 are associated with nephronophthisis and Bardet-Biedl syndrome, as well as s
22 the visceral organs, renal cysts as part of nephronophthisis and congenital hepatic fibrosis (CHF) i
23 plications for the differential diagnosis of nephronophthisis and for individual prognosis of visual
24 All affected individuals had early-onset nephronophthisis and four out of eight displayed learnin
27 a tubulointerstitial kidney disease known as nephronophthisis and retinal (Senior-Loken syndrome) and
28 ransport protein IFT139, cause both isolated nephronophthisis and syndromic Jeune asphyxiating thorac
29 Nek8 kinase, mutated in the renal ciliopathy nephronophthisis, and DNA damage control by cyclin A/Cdk
30 polycystic kidney diseases (PKDs), including nephronophthisis, are characterized by formation of flui
31 ral defects likely include familial juvenile nephronophthisis, as well as the polycystic diseases.
32 onent-encoding gene, as a cause of infantile nephronophthisis associated with central nervous system
33 pite the known interaction between CSPP1 and nephronophthisis-associated proteins, none of the affect
34 ult in cystic changes in the kidney, such as nephronophthisis, autosomal recessive polycystic kidney
35 juvenile cystic kidneys (jck) mouse model of nephronophthisis by pharmacological inhibition of CDK5 u
37 unrelated patients diagnosed with CKD due to nephronophthisis, chronic GN, interstitial nephritis, or
39 tic kidney disease genes and products of the nephronophthisis disease genes are at least partially lo
40 ogy in KIN is indistinguishable from that of nephronophthisis, except for the presence of karyomegaly
42 ndromes, including Bardet-Biedl syndrome and nephronophthisis, for which all of the encoded proteins
43 known to interact, we examined patients with nephronophthisis from 94 different families and sequence
45 mptoms, including polycystic kidney disease, nephronophthisis, hydrocephalus, polydactyly, situs inve
46 othesized that mutations in NEK8 might cause nephronophthisis in humans, so we performed mutational a
52 ner syndrome) are frequently associated with nephronophthisis-like cystic kidney disease and other or
53 the network of ciliary chondrodysplasia and nephronophthisis-like disease proteins and suggest that
54 gn'), variably associated retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly and is
56 esting that oral-facial-digital syndrome and nephronophthisis may involve a dysfunction of centrioles
58 1) in eight patients from five families with nephronophthisis (NPH) and retinal degeneration, two of
63 d forms, autosomal recessive PKD (ARPKD) and nephronophthisis (NPH), are characterized by collecting-
64 h two renal ciliopathies in humans and mice, nephronophthisis (NPHP) and polycystic kidney disease.
74 e nucleoporin Nup62 and the C termini of the nephronophthisis (NPHP) proteins NPHP4 and NPHP5 interac
84 lated genetic disorders in humans, including nephronophthisis (NPHP), Joubert syndrome (JBTS), Meckel
85 mation in multiple human syndromes including nephronophthisis (NPHP), Meckel-Gruber syndrome (MKS), J
88 modules/complexes (Meckel syndrome [MKS] and Nephronophthisis [NPHP]) defined by genetic interaction,
90 the assumption that mutations in NEK8 cause nephronophthisis (NPHP9), adding another link between pr
91 in mouse leads to the cystic kidney disease nephronophthisis, owing to an unexpected decrease in end
98 everal human ciliopathy syndromes, including nephronophthisis-related ciliopathies, the mechanism by
99 B-encoding genes in 1,467 individuals with a nephronophthisis-related ciliopathy or whole-exome reseq
101 e two ciliopathies Bardet-Biedl syndrome and nephronophthisis share multiple clinical manifestations,
103 proteome: cystic kidney disease (especially nephronophthisis) syndromes, including Meckel/Joubert-li
104 atrophy and progressive fibrosis, similar to nephronophthisis, that ultimately results in renal failu
108 venile-onset cystic kidney disease, known as nephronophthisis, typically progressing to end-stage ren
110 e thickening reminiscent of that observed in nephronophthisis was present in patients with FSGS and t