NPHP1

Summary

Gene Symbol: NPHP1
Description: nephrocystin 1
Alias: JBTS4, NPH1, SLSN1, nephrocystin-1, juvenile nephronophthisis 1 protein, nephronophthisis 1 (juvenile)
Species: human
Products:     NPHP1

Top Publications

  1. Otto E, Hoefele J, Ruf R, Mueller A, Hiller K, Wolf M, et al. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet. 2002;71:1161-7 pubmed
    ..Four gene loci for NPHP have been mapped to chromosomes 2q13 (NPHP1), 9q22 (NPHP2), 3q22 (NPHP3), and 1p36 (NPHP4)...
  2. Fliegauf M, Horvath J, von Schnakenburg C, Olbrich H, Muller D, Thumfart J, et al. Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia. J Am Soc Nephrol. 2006;17:2424-33 pubmed
    ..The majority of patients with NPHP carry homozygous deletions of NPHP1 encoding nephrocystin...
  3. Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, et al. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet. 2003;34:455-9 pubmed
    ..associated with an infantile type of NPHP on 9q22-q31 (NPHP2), juvenile types of NPHP on chromosomes 2q12-q13 (NPHP1) and 1p36 (NPHP4) and an adolescent type of NPHP on 3q21-q22 (NPHP3) have been mapped...
  4. Tory K, Lacoste T, Burglen L, Moriniere V, Boddaert N, Macher M, et al. High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. J Am Soc Nephrol. 2007;18:1566-75 pubmed
    ..Mutations in three genes--AHI1, NPHP1, and NPHP6--have been identified in patients with JS...
  5. Saunier S, Calado J, Heilig R, Silbermann F, Benessy F, Morin G, et al. A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis. Hum Mol Genet. 1997;6:2317-23 pubmed
    ..One of the responsible loci, NPH1 , has been mapped to 2q13...
  6. Liebau M, Höpker K, Müller R, Schmedding I, Zank S, Schairer B, et al. Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia. J Biol Chem. 2011;286:14237-45 pubmed publisher
    ..Genetic studies have identified disease-causing mutations in at least 11 different genes (NPHP1-11), but the function of the corresponding nephrocystin proteins remains poorly understood...
  7. Benzing T, Gerke P, Höpker K, Hildebrandt F, Kim E, Walz G. Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2. Proc Natl Acad Sci U S A. 2001;98:9784-9 pubmed
    Juvenile nephronophthisis type 1 is caused by mutations of NPHP1, the gene encoding for nephrocystin...
  8. Hildebrandt F, Zhou W. Nephronophthisis-associated ciliopathies. J Am Soc Nephrol. 2007;18:1855-71 pubmed
    ..Positional cloning of six novel genes (NPHP1 through 6) as mutated in NPHP and functional characterization of their encoded proteins have contributed to the ..
  9. Schermer B, Höpker K, Omran H, Ghenoiu C, Fliegauf M, Fekete A, et al. Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia. EMBO J. 2005;24:4415-24 pubmed
    ..Inhibition of CK2 activity abrogates this interaction and results in the loss of correct nephrocystin targeting. These data suggest that CK2-dependent transport processes represent a novel pathway of targeting proteins to the cilia. ..

More Information

Publications91

  1. Mollet G, Silbermann F, Delous M, Salomon R, Antignac C, Saunier S. Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes. Hum Mol Genet. 2005;14:645-56 pubmed
    ..These data suggest that nephrocystin and nephrocystin-4 belong to a multifunctional complex localized in actin- and microtubule-based structures involved in cell-cell and cell-matrix adhesion signaling as well as in cell division. ..
  2. Otto E, Schermer B, Obara T, O Toole J, Hiller K, Mueller A, et al. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet. 2003;34:413-20 pubmed
    ..The genes mutated in NPHP1 and NPHP4 have been identified, and a gene locus associated with infantile nephronophthisis (NPHP2) was mapped...
  3. Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler G, et al. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Nat Genet. 2002;32:300-5 pubmed
    ..Three loci are associated with the juvenile, infantile and adolescent forms, on chromosomes 2q13 (NPHP1; refs 5,6), 9q22 (NPHP2; ref. 7) and 3q21 (NPHP3; ref. 8), respectively...
  4. Dafinger C, Liebau M, Elsayed S, Hellenbroich Y, Boltshauser E, Korenke G, et al. Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J Clin Invest. 2011;121:2662-7 pubmed publisher
    ..It results from mutations in any one of at least 10 different genes, including NPHP1, which encodes nephrocystin-1...
  5. Donaldson J, Dempsey P, Reddy S, Bouton A, Coffey R, Hanks S. Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells. Exp Cell Res. 2000;256:168-78 pubmed
    ..Our findings provide novel insight into the normal cellular activities regulated by both Cas and nephrocystin, and raise the possibility that these proteins have a related function in polarized epithelial cells. ..
  6. Donaldson J, Dise R, Ritchie M, Hanks S. Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity. J Biol Chem. 2002;277:29028-35 pubmed
  7. Delous M, Hellman N, Gaudé H, Silbermann F, Le Bivic A, Salomon R, et al. Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6. Hum Mol Genet. 2009;18:4711-23 pubmed publisher
    ..The disease is caused by mutations in NPHP1-9 genes, which encode the nephrocystins, proteins localized to cell-cell junctions and centrosome/primary cilia...
  8. Hildebrandt F, Otto E, Rensing C, Nothwang H, Vollmer M, Adolphs J, et al. A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Nat Genet. 1997;17:149-53 pubmed
    ..We here identify a novel gene. NPHP1, which extends over most of this common deletion. The 4...
  9. Szabo T, Orosz P, Balogh E, Jávorszky E, Máttyus I, Bereczki C, et al. Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies. Pediatr Nephrol. 2018;33:1713-1721 pubmed publisher
    ..All eight patients without PKHD1 mutations (22%) harbored mutations in other genes (PKD1 (n?=?2), HNF1B (n?=?3), NPHP1, TMEM67, PKD1/TSC2)...
  10. Khan T, Khan K, Sadeghpour A, Reynolds H, Perilla Y, McDonald M, et al. Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies. Am J Hum Genet. 2019;104:94-111 pubmed publisher
    ..Finally, we noted that the individual with a complex urogenital defect also harbored a heterozygous NPHP1 deletion, a common contributor to nephronophthisis...
  11. Hussain S, Akhtar N, Qamar R, Khan N, Naeem M. Molecular Study of Nephronophthisis in 7 Unrelated Pakistani Families. Iran J Kidney Dis. 2018;12:240-242 pubmed
    ..Homozygous deletions in the nephronophthisis 1 (NPHP1) gene are the major contributor of nephronophthisis cases, while other genes accounts for less than 3% each...
  12. Yee L, Garcia Gonzalo F, Bowie R, Li C, Kennedy J, Ashrafi K, et al. Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling. PLoS Genet. 2015;11:e1005627 pubmed publisher
    ..However, disrupting both Tctn1 and either Nphp1 or Nphp4 exacerbated defects in ciliogenesis and cilia-associated developmental signaling, as did disrupting both ..
  13. Yakulov T, Yasunaga T, Ramachandran H, Engel C, Müller B, Hoff S, et al. Anks3 interacts with nephronophthisis proteins and is required for normal renal development. Kidney Int. 2015;87:1191-200 pubmed publisher
    ..epidermal cells, GFP-tagged Anks3 localizes to the cilium, but forms large aggregates in the absence of NPHP1, indicating that the negatively charged NPHP1 curtails the polymerization of Anks3...
  14. Snoek R, van Setten J, Keating B, Israni A, Jacobson P, Oetting W, et al. NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD. J Am Soc Nephrol. 2018;29:1772-1779 pubmed publisher
    ..Homozygous full gene deletions of the NPHP1 gene encoding nephrocystin-1 are a prominent cause of NPH...
  15. Reches A, Hiersch L, Simchoni S, Barel D, Greenberg R, Ben Sira L, et al. Whole-exome sequencing in fetuses with central nervous system abnormalities. J Perinatol. 2018;38:1301-1308 pubmed publisher
    ..in two fetuses of the same couple (Case #6), a compound heterozygous state was detected, consisting of the NPHP1 gene deletion and a sequence variant of uncertain significance. Two additional cases had normal WES results...
  16. Canepa C, Burton B, Muhith A. An elusive ciliopathy: Joubert syndrome. BMJ Case Rep. 2017;2017: pubmed publisher
    ..Her brain MRI showed 'molar tooth sign', suggestive of Joubert syndrome, which was confirmed by genetic testing showing anomalous NPHP1 gene.
  17. Qi Z, Shen Y, Fu Q, Li W, Yang W, Xu W, et al. Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome. Sci China Life Sci. 2017;60:739-745 pubmed publisher
    ..At least 21 candidate BBS-associated genes (BBS1-19, NPHP1, and IFT172) have previously been identified, and all of them play important roles in ciliary function...
  18. Sang L, Miller J, Corbit K, Giles R, Brauer M, Otto E, et al. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 2011;145:513-28 pubmed publisher
    ..identified 850 interactors copurifying with nine NPHP/JBTS/MKS proteins and discovered three connected modules: "NPHP1-4-8" functioning at the apical surface, "NPHP5-6" at centrosomes, and "MKS" linked to Hedgehog signaling...
  19. Wang B, Zhang Y, Dong H, Gong S, Wei B, Luo M, et al. Loss of Tctn3 causes neuronal apoptosis and neural tube defects in mice. Cell Death Dis. 2018;9:520 pubmed publisher
    ..Finally, NPHP1, a protein with anti-apoptotic ability, was found to form a complex with Tctn3, and its levels were decreased in ..
  20. Lu W, Chen Y, Kuo C. Increased first and second pulse harmonics in Tai Chi Chuan practitioners. BMC Complement Altern Med. 2016;16:87 pubmed publisher
    ..the total power of pulse (TPp), powers of all individual pulse harmonics, normalized power of the 1(st) harmonics (nPh1) of TCC practitioners were greater, while the normalized power of the 4(th) pulse harmonics (nPh4) of TCC ..
  21. Chen C, Lin S, Lee C, Chern S, Wu P, Chen Y, et al. Recurrent 2q13 microduplication encompassing MALL, NPHP1, RGPD6, and BUB1 associated with autism spectrum disorder, intellectual disability, and liver disorder. Taiwan J Obstet Gynecol. 2017;56:98-101 pubmed publisher
    ..5-kb 2q13 microduplication encompassing MALL, NPHP1, RGPD6, and BUB1 in the elder brother, a 658...
  22. Damerla R, Cui C, Gabriel G, Liu X, Craige B, Gibbs B, et al. Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies. Hum Mol Genet. 2015;24:3994-4005 pubmed publisher
    ..Significantly, Hug mutant fibroblasts showed loss of not only JBTS17, but also NPHP1 and CEP290 from the cilia transition zone. Hug mutants exhibited reduced ciliation in the cerebellum...
  23. Kang H, Lee H, Ahn Y, Joung J, Nam J, Kim N, et al. Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. Exp Mol Med. 2016;48:e251 pubmed publisher
    ..Known pathogenic mutations were identified in 12 patients (21.8%); homozygous deletions of NPHP1 in 4 juvenile nephronophthisis patients, IQCB1/NPHP5 mutations in 3 Senior-Løken syndrome patients, a CEP290/..
  24. Viau A, Bienaime F, Lukas K, Todkar A, Knoll M, Yakulov T, et al. Cilia-localized LKB1 regulates chemokine signaling, macrophage recruitment, and tissue homeostasis in the kidney. EMBO J. 2018;37: pubmed publisher
    ..We identify a complex of the ciliary kinase LKB1 and several ciliopathy-related proteins including NPHP1 and PKD1...
  25. Ahonen S, Arumilli M, Seppälä E, Hakosalo O, Kaukonen M, Komáromy A, et al. Increased expression of MERTK is associated with a unique form of canine retinopathy. PLoS ONE. 2014;9:e114552 pubmed publisher
    ..The expression analyses of four candidate genes in the region, MERTK, NPHP1, ANAPC1 and KRCC1, revealed specific upregulation of MERTK in the retina of the affected dogs...
  26. Larsen C, Bonsib S, Beggs M, Wilson J. Fluorescence in situ hybridization for the diagnosis of NPHP1 deletion-related nephronophthisis on renal biopsy. Hum Pathol. 2018;81:71-77 pubmed publisher
    ..60% of patients with a known genetic etiology of nephronophthisis are due to homozygous deletion of the NPHP1 gene...
  27. Vélez J, Chandrasekharappa S, Henao E, Martinez A, Harper U, Jones M, et al. Pooling/bootstrap-based GWAS (pbGWAS) identifies new loci modifying the age of onset in PSEN1 p.Glu280Ala Alzheimer's disease. Mol Psychiatry. 2013;18:568-75 pubmed publisher
    ..29 × 10⁻¹²; nphp1, rs10173717, p=1.74 × 10⁻¹²; cadps2, rs3757536, p=1...
  28. Ece Solmaz A, Onay H, AtIk T, Aykut A, Cerrah Gunes M, Ozalp Yuregir O, et al. Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes. Eur J Med Genet. 2015;58:689-94 pubmed publisher
    ..genes (BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10, TRIM32, BBS12, MKS1, NPHP6, WDPCP, SDCCAG8, NPHP1). A genetic diagnosis was achieved in 13 patients (86...
  29. Amiri F, Kariminejad A. Juvenile nephronophthisis and dysthyroidism: a rare association. CEN Case Rep. 2017;6:98-104 pubmed publisher
    ..Genetic testing performed and a large homozygous deletion at the NPHP1 gene locus was found...
  30. Verardo L, Silva F, Lopes M, Madsen O, Bastiaansen J, Knol E, et al. Revealing new candidate genes for reproductive traits in pigs: combining Bayesian GWAS and functional pathways. Genet Sel Evol. 2016;48:9 pubmed publisher
    ..We identified multiple candidate genes (e.g. PTP4A2, NPHP1, and CYP24A1 for SB and YLPM1, SYNDIG1L, TGFB3, and VRTN for NT) and TF (e.g...
  31. Birtel J, Eisenberger T, Gliem M, Müller P, Herrmann P, Betz C, et al. Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. Sci Rep. 2018;8:4824 pubmed publisher
    ..GUCY2D, PROM1, CRX, GUCA1A, CERKL, MT-TL1, KIF11, RP1L1, MERTK, RDH5, CDH3, C1QTNF5, CRB1, JAG1, DRAM2, POC1B, NPHP1 and RPGR...
  32. Lee J, Cheng R, Vardarajan B, Lantigua R, Reyes Dumeyer D, Ortmann W, et al. Genetic Modifiers of Age at Onset in Carriers of the G206A Mutation in PSEN1 With Familial Alzheimer Disease Among Caribbean Hispanics. JAMA Neurol. 2015;72:1043-51 pubmed publisher
    ..In the confirmation stage, genewise analysis identified SNX25, PDLIM3, and 3 SH3 domain genes (SORBS2, SH3RF3, and NPHP1) to be significantly associated with LOAD...
  33. Sugimoto K, Miyazawa T, Enya T, Nishi H, Miyazaki K, Okada M, et al. Clinical and genetic characteristics of Japanese nephronophthisis patients. Clin Exp Nephrol. 2016;20:637-649 pubmed publisher
    ..Genetically abnormalities of NPHP1 were not common, with large deletions frequently noted...
  34. Kishimoto K, Nomura J, Ellegood J, Fukumoto K, Lerch J, Moreno De Luca D, et al. Behavioral and neuroanatomical analyses in a genetic mouse model of 2q13 duplication. Genes Cells. 2017;22:436-451 pubmed publisher
    ..Nephronophthisis-1 (NPHP1) was identified as a causative gene in the minimal deletion on chromosome 2q13 for familial juvenile type 1 ..
  35. Qiu L, Zhou J. Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report. BMC Pediatr. 2016;16:44 pubmed publisher
    ..b>NPHP1 mutations cause familial juvenile nephronophthisis type 1 (NPHP1, OMIM 256100), another autosomal recessive renal ..
  36. Dong Y, Pan Y, Wang R, Zhang Z, Xi Q, Liu R. Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia. Genet Mol Res. 2015;14:16041-9 pubmed publisher
    ..The involved genes include EDDM3A, EDDM3B, HLA-DRB1, HLA-DQA1, POTE B, GOLGA8C, DNMT3L, ALF, NPHP1, NRG1, RID2, ADAMTS20, TWF1, COX10, MAK, and DNEL1...
  37. Koyama S, Sato H, Wada M, Kawanami T, Emi M, Kato T. Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders. BMC Med Genet. 2017;18:37 pubmed publisher
    ..Ser219*/deletion) in the NPHP1 gene...
  38. Ding Y, Herman J, Toledo C, Lang J, Corrin P, Girard E, et al. ZNF131 suppresses centrosome fragmentation in glioblastoma stem-like cells through regulation of HAUS5. Oncotarget. 2017;8:48545-48562 pubmed publisher
    ..revealed that ZNF131 activity notably promotes expression of Joubert Syndrome ciliopathy genes, including KIF7, NPHP1, and TMEM237, as well as HAUS5, a component of Augmin/HAUS complex that facilitates microtubule nucleation along ..
  39. Lindstrand A, Frangakis S, Carvalho C, Richardson E, McFadden K, Willer J, et al. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet. 2016;99:318-36 pubmed publisher
    ..5%), including 13 different deletions in eight BBS genes (BBS1, BBS2, ARL6/BBS3, BBS4, BBS5, BBS7, BBS9, and NPHP1) and a deletion and a duplication in other ciliopathy-associated genes (ALMS1 and NPHP4, respectively)...
  40. Lu M, Zhang L, Sartippour M, Norris A, Brooks M. EG-1 interacts with c-Src and activates its signaling pathway. Int J Oncol. 2006;29:1013-8 pubmed
    ..Furthermore, EG-1 shows interaction with multiple other SH3- and WW-containing molecules involved in various signaling pathways. These observations suggest that EG-1 may be involved in signaling pathways including c-Src activation. ..
  41. Chan S, Rayat J, Sauve Y, Macdonald I. Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects. Can J Ophthalmol. 2016;51:e85-8 pubmed publisher
  42. Rao K, Zhang W, Li L, Ronquillo C, Baehr W, Khanna H. Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR. Hum Mol Genet. 2016;25:2005-2012 pubmed
    ..but not of a heterozygous null allele of Cep290 (Cep290null/+) or of other ciliopathy genes, Rpgrip1, Nphp1, Nphp4 and Nphp5, exhibit relatively early onset (by 3 months of age) retinal degeneration and dysfunction when ..
  43. Hoefele J, Nayir A, Chaki M, Imm A, Allen S, Otto E, et al. Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion. Pediatr Nephrol. 2011;26:967-71 pubmed publisher
    ..Nevertheless, a deletion analysis of the NPHP1 gene on chromosome 2 was performed and showed a homozygous deletion...
  44. Deacon B, Lowery R, Phillips P, Schaefer G. Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis. J AAPOS. 2013;17:332-3 pubmed publisher
    ..congenital ocular motor apraxia (COMA) and Joubert syndrome found to have a compound heterozygous mutation in the NPHP1 gene that is responsible for juvenile nephronophthisis type 1...
  45. Eley L, Moochhala S, Simms R, Hildebrandt F, Sayer J. Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct. Biochem Biophys Res Commun. 2008;371:877-82 pubmed publisher
    ..Mutations in NPHP1 account for the underlying genetic defect in 25% of patients with nephronophthisis...
  46. Caridi G, Murer L, Bellantuono R, Sorino P, Caringella D, Gusmano R, et al. Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. Am J Kidney Dis. 1998;32:1059-62 pubmed
    ..This syndrome is distinct on molecular grounds from pure renal nephronophthisis (NPH1), which has its gene locus mapped on chromosome 2q13...
  47. Otto E, Kispert A, Schätzle -, Lescher B, Rensing C, Hildebrandt F. Nephrocystin: gene expression and sequence conservation between human, mouse, and Caenorhabditis elegans. J Am Soc Nephrol. 2000;11:270-82 pubmed
    ..The gene (NPHP1) for nephronophthisis type 1 has recently been identified...
  48. Chan W, Sit S, Manser E. The Cdc42-associated kinase ACK1 is not autoinhibited but requires Src for activation. Biochem J. 2011;435:355-64 pubmed publisher
    ..The results of the present study can explain why ACK1 is responsive to so many external stimuli including RTKs and integrin ligation, since Src kinases are commonly recruited by multiple receptor systems. ..
  49. Medhioub M, Cherif D, Benessy F, Silbermann F, Gubler M, Le Paslier D, et al. Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity. Genomics. 1994;22:296-301 pubmed
    ..discernible in these families that could separate them from the families linked to the chromosome 2 NPH locus (NPH1). This reveals genetic heterogeneity in the purely renal form of NPH...
  50. Komatsuda A, Masai R, Wakui H, Iwamoto K, Aiba N, Ohtani H, et al. Analysis of the NPHP genes in two Japanese patients with suspected sporadic juvenile or adolescent nephronophthisis. Clin Nephrol. 2006;65:364-9 pubmed
    Mutations in 3 genes (NPHP1, NPHP3 and NPHP4) have been identified in patients with juvenile or adolescent nephronophthisis (NPHP) without extrarenal involvement, mainly in patients from western countries...
  51. Meyer K, Davis L, Schindler E, Beck J, Rudd D, Grundstad A, et al. Genome-wide analysis of copy number variants in age-related macular degeneration. Hum Genet. 2011;129:91-100 pubmed publisher
    ..of AMD, we identified several rare and overlapping CNVs containing or flanking compelling candidate genes such as NPHP1 and EFEMP1...
  52. König J, Kranz B, König S, Schlingmann K, Titieni A, Tönshoff B, et al. Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies. Clin J Am Soc Nephrol. 2017;12:1974-1983 pubmed publisher
    ..To date, mutations in 20 different genes (NPHP1 to -20) have been identified causing either isolated kidney disease or complex multiorgan disorders...
  53. Seeger Nukpezah T, Liebau M, Höpker K, Lamkemeyer T, Benzing T, Golemis E, et al. The centrosomal kinase Plk1 localizes to the transition zone of primary cilia and induces phosphorylation of nephrocystin-1. PLoS ONE. 2012;7:e38838 pubmed publisher
    ..Whether Plk1 has a role in ciliary biology has never been studied. Nephrocystin-1 (NPHP1) is a ciliary protein; loss of NPHP1 in humans causes nephronophthisis (NPH), an autosomal-recessive cystic kidney ..
  54. Kroes H, van Zon P, Fransen van de Putte D, Nelen M, Nievelstein R, Wittebol Post D, et al. DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands. Eur J Med Genet. 2008;51:24-34 pubmed
    ..Five genes, AHI1, NPHP1, CEP290, MKS3, and RPGRIP1L, and two additional loci on chromosome 9 and 11 have been identified so far...
  55. Konrad M, Saunier S, Calado J, Gubler M, Broyer M, Antignac C. Familial juvenile nephronophthisis. J Mol Med (Berl). 1998;76:310-6 pubmed
    ..By means of linkage analysis a gene NPH1 for the purely renal form of NPH has been localized to chromosome 2...
  56. Caridi G, Dagnino M, Trivelli A, Emma F, Perfumo F, Ghiggeri G. Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy. Nephrol Dial Transplant. 2006;21:2301-3 pubmed
  57. Chaari I, Trabelsi M, Goucha R, Elaribi Y, Kharrat M, Guarguah T, et al. Prevalence and incidence estimation of large NPHP1 homozygous deletion in Tunisian population. Pathol Biol (Paris). 2012;60:e84-6 pubmed publisher
  58. Caridi G, Dagnino M, Rossi A, Valente E, Bertini E, Fazzi E, et al. Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association. Kidney Int. 2006;70:1342-7 pubmed
    Type 1 nephronophthisis (NPHP) with homozygous deletions of nephrocystin [NPHP1, DEL] has been considered a pure renal disorder, but co-occurrence of extrarenal symptoms, mainly retinitis pigmentosa, is observed in a subset of patients...
  59. Kärkkäinen S, Hiipakka M, Wang J, Kleino I, Vähä Jaakkola M, Renkema G, et al. Identification of preferred protein interactions by phage-display of the human Src homology-3 proteome. EMBO Rep. 2006;7:186-91 pubmed
  60. Kang H, Ahn Y, Kim J, Ha I, Yu Y, Park Y, et al. Atypical retinopathy in patients with nephronophthisis type 1: an uncommon ophthalmological finding. Clin Exp Ophthalmol. 2015;43:437-42 pubmed publisher
    ..has been repeatedly observed in Korean nephronophthisis (NPHP) type 1 patients with a total homozygous deletion of NPHP1. Retrospective case series...
  61. Devi A, Anil Kumar T, Pillai S, Jayakrishnan K, Kumar P. Expression profiles of NPHP1 in the germ cells in the semen of men with male factor infertility. Andrology. 2015;3:685-93 pubmed publisher
    b>NPHP1, the gene that encodes the protein nephrocystin-1 has been identified to be mutated in Juvenile Nephronophthisis, an autosomal recessive cystic kidney disorder which is the most frequent genetic cause of end-stage renal disease (..
  62. Soliman N, Hildebrandt F, Otto E, Nabhan M, Allen S, Badr A, et al. Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience. Saudi J Kidney Dis Transpl. 2012;23:1090-8 pubmed publisher
    ..Analysis for a homozygous deletion of the NPHP1 gene was performed by polymerase chain reaction on the genomic DNA of all patients...
  63. Tuz K, Hsiao Y, Juárez O, Shi B, Harmon E, Phelps I, et al. The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. J Biol Chem. 2013;288:13676-94 pubmed publisher
    ..in AHI1 decrease cilia formation, alter its localization and stability, and change its binding to HAP1 and NPHP1. Mutations in AHI1 affect ciliogenesis, AHI1 protein localization, and AHI1-protein interactions...
  64. Hirano D, Fujinaga S, Ohtomo Y, Nishizaki N, Hara S, Murakami H, et al. Nephronophthisis cannot be detected by urinary screening program. Clin Pediatr (Phila). 2013;52:759-61 pubmed publisher
  65. Saunier S, Calado J, Benessy F, Silbermann F, Heilig R, Weissenbach J, et al. Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. Am J Hum Genet. 2000;66:778-89 pubmed
    ..A gene, NPHP1, responsible for approximately 85% of the purely renal form of nephronophthisis, has been mapped to 2q13 and ..
  66. Kleino I, Ortiz R, Yritys M, Huovila A, Saksela K. Alternative splicing of ADAM15 regulates its interactions with cellular SH3 proteins. J Cell Biochem. 2009;108:877-85 pubmed publisher
  67. Gheissari A, Harandavar M, Hildebrandt F, Braun D, Sedghi M, Parsi N, et al. Gene mutation analysis in Iranian children with nephronophthisis: a two-center study. Iran J Kidney Dis. 2015;9:119-25 pubmed
    ..The NPHP1 gene is the first identified gene responsible for nephronophthisis and related diseases...
  68. Bollée G, Fakhouri F, Karras A, Noel L, Salomon R, Servais A, et al. Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults. Nephrol Dial Transplant. 2006;21:2660-3 pubmed
  69. Betz R, Rensing C, Otto E, Mincheva A, Zehnder D, Lichter P, et al. Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. J Pediatr. 2000;136:828-31 pubmed
    ..Both patients possess large deletions of the NPHP1 gene...
  70. Parisi M, Bennett C, Eckert M, Dobyns W, Gleeson J, Shaw D, et al. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am J Hum Genet. 2004;75:82-91 pubmed
    ..Thus far, no mutations in the known NPHP genes, particularly the homozygous deletion of NPHP1 at 2q13, have been identified in subjects with JS...
  71. Yuan B, Liu P, Gupta A, Beck C, Tejomurtula A, Campbell I, et al. Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates. PLoS Genet. 2015;11:e1005686 pubmed publisher
    ..Nephronophthisis 1 (NPHP1, MIM# 256100) is an autosomal recessive disorder that can be caused by defects of NPHP1; the gene maps within the ..
  72. Eley L, Gabrielides C, Adams M, Johnson C, Hildebrandt F, Sayer J. Jouberin localizes to collecting ducts and interacts with nephrocystin-1. Kidney Int. 2008;74:1139-49 pubmed publisher
    ..Our results suggest that Jouberin is a protein whose expression pattern supports both the adherens junction and the ciliary hypotheses for abnormalities leading to nephronophthisis. ..
  73. Hoefele J, Wolf M, O Toole J, Otto E, Schultheiss U, Deschenes G, et al. Evidence of oligogenic inheritance in nephronophthisis. J Am Soc Nephrol. 2007;18:2789-95 pubmed
    ..Twenty-five percent of nephronophthisis cases are caused by large homozygous deletions of NPHP1, but six genes responsible for nephronophthisis have been identified...
  74. Bacchetta J, Chapurlat R, Bouvier R, Antignac C, Dubourg L, Kohler R, et al. Nephronophthisis-like nephritis associated with fibrous dysplasia of bone. Pediatr Nephrol. 2008;23:1559-63 pubmed publisher
    ..73 m(2) body surface area) leading to kidney biopsy, which showed nephronophthisis-like lesions, but neither NPHP1 gene deletion nor UMOD (uromodulin) mutation were identified...
  75. Wodarczyk C, Distefano G, Rowe I, Gaetani M, Bricoli B, Muorah M, et al. Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals. PLoS ONE. 2010;5:e12719 pubmed publisher
    ..A screen for interactions using the PC-1 C-terminal tail identified the SH3 domain of nephrocystin-1 (NPHP1) as a potential binding partner of PC-1...
  76. Otto E, Ramaswami G, Janssen S, Chaki M, Allen S, Zhou W, et al. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J Med Genet. 2011;48:105-16 pubmed publisher
    ..each were prepared which were used as templates in order to PCR amplify all 376 exons of 18 NPHP-AC genes (NPHP1, INVS, NPHP3, NPHP4, IQCB1, CEP290, GLIS2, RPGRIP1L, NEK8, TMEM67, INPP5E, TMEM216, AHI1, ARL13B, CC2D2A, TTC21B, ..
  77. Lindstrand A, Davis E, Carvalho C, Pehlivan D, Willer J, Tsai I, et al. Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014;94:745-54 pubmed publisher
    Homozygosity for a recurrent 290 kb deletion of NPHP1 is the most frequent cause of isolated nephronophthisis (NPHP) in humans...
  78. Haghighi A, Savaj S, Haghighi Kakhki H, Benoit V, Grisart B, Dahan K. Identification of an NPHP1 deletion causing adult form of nephronophthisis. Ir J Med Sci. 2016;185:589-95 pubmed publisher
    ..Uromodulin (UMOD), known to be involved in adult medullary cystic kidney disease, and nephronophthisis 1 (NPHP1) were investigated in the genomic DNA of the probands using DNA sequencing, multiplex ligation-dependent probe ..
  79. Konrad M, Saunier S, Heidet L, Silbermann F, Benessy F, Calado J, et al. Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. Hum Mol Genet. 1996;5:367-71 pubmed
    ..We recently assigned a gene (NPH1) to the 2q13 region which is responsible for approximately 85% of cases...
  80. Chaki M, Airik R, Ghosh A, Giles R, Chen R, Slaats G, et al. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell. 2012;150:533-48 pubmed publisher
    ..Our findings link degenerative diseases of the kidney and retina, disorders of increasing prevalence, to mechanisms of DDR. ..