NPHP1 Antibody, HRP conjugated

1. Copy number variation analysis of the NPHP1 gene using the commercially available MLPA kit identified a recurrent large homozygous deletion encompassing all NPHP1 exons. PMID: 26037636
2. Ocular motor apraxia (OMA) may present with extraocular manifestations (nephronophthisis and cerebellar vermis hypoplasia) and that OMA can be associated with NPHP1 mutations. PMID: 27316287
3. dynamic genomic rearrangements occurred historically within the NPHP1 locus and generated SV haplotypes observed in the human population today, which may confer differential susceptibility to genomic instability and the NPHP1 deletion PMID: 26641089
4. associated with male factor infertility PMID: 26198798
5. We report the unexpectedly common retinal involvement of NPHP type 1 with an additional MALL deletion in a Korean cohort. PMID: 25401970
6. A homozygous deletion was identified in the NPHP1 gene spanning at least from exon 5 to exon 20 in two families in Iranian children with nephronophthisis. PMID: 25851290
7. These results suggest that NPHP1 mutations are probably rare primary causes of Bardet-Biedl syndrome that contribute to the mutational burden of the disorder. PMID: 24746959
8. NPHP1 genetic testing is important to diagnose patients with nephronophthisis, familial juvenile disease. PMID: 22523277
9. Congenital ocular motor apraxia and Joubert syndrome found to have a compound heterozygous mutation in the NPHP1 gene that is responsible for juvenile nephronophthisis type 1. PMID: 23683649
10. Prevalence and incidence estimation of large NPHP1 homozygous deletion in Tunisian patients with clinical pictures of tubulo-interstitiel kidney disorder and chronic renal failure. PMID: 22743096
11. Report NPHP1 mutations in nephronophthisis and associated ciliopathies and Joubert syndrome-related disorders. PMID: 22982934
12. Plk1 colocalizes with nephrocystin-1 and induces it's phosphorylation in the transition zone of primary cilia in epithelial cells. PMID: 22701722
13. NPHP1 deletion analysis should always be considered in patients with apparently dominant nephronophthisis. PMID: 21258817
14. Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia PMID: 21357692
15. PC-1 polyproline motif interacts with the SH3 domain of NPHP1. PMID: 20856870
16. Alternative splicing of ADAM15 regulates its interactions with cellular SH3 proteins SNX33 and nephrocystin PMID: 19718658
17. NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome PMID: 15138899
18. part of multifunctional complex localized in actin- and microtubule-based structures PMID: 15661758
19. casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia PMID: 16308564
20. A premature stop codon, 1756C>T, at R586 in 4 patients was associated with an NPHP-1 deletion in 2 pts and with a 1122+2 duplication in one. The duplication had a low probablilty of maintaining the splicing effect on this obligatory donor splice site. PMID: 16762963
21. Nephrocystin deficiency or dysfunction at the transition zone of renal monocilia and the photoreceptor connecting cilium might explain renal failure and retinal degeneration that are observed in patients with NPHP1. PMID: 16885411
22. Epistatic effects that are provided by heterozygous NPHP6 and AHI1 mutations and variants may contribute to the appearance of extrarenal symptoms in patients with NPHP1 mutations. PMID: 17409309
23. In six families with nephronophthisis, there were two mutations in either NPHP1, NPHP3, or NPHP4, suggesting oligogenicity. PMID: 17855640
24. These data define Ack1 as a novel interaction partner of nephrocystin-1 and implicate cell-cell junctions and the renal collecting duct in the pathology of nephronophthisis. PMID: 18477472
25. Jouberin interacts with nephrocystin-1 in HEK293 cells PMID: 18633336

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HGNC: 7905

OMIM: 256100

KEGG: hsa:4867

STRING: 9606.ENSP00000313169

UniGene: Hs.280388