NPHP3 Antibody

1. Case Report: NPHP3 related nephronophthisis manifesting in the fetal period. PMID: 28921755
2. Inherited 3 deleterious mutations in two nephronophthisis genes, NPHP3 and NPHP4 cause unusually severe form of infantile nephronophthisis. PMID: 28392475
3. NPHP3 mutations were prevalent in Chinese infantile nephronophthisis patients. All patients with NPHP3 mutations showed renal-hepatic phenotype. PMID: 26184788
4. a rare neonatal ciliopathy presentation of NPHP3 mutations leading to severe multiorgan failure in two siblings. PMID: 24776604
5. The known phenotype of NPHP3 mutation caused renal-hepatic-pancreatic dysplasia has been extended to include skeletal and CNS anomalies. PMID: 23686967
6. ANKS6 as a new NPHP family member that assembles a distinct module of nephronophthisis-associated proteins, encompassing NEK8, INVS and NPHP3. PMID: 23793029
7. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. PMID: 12872122
8. In six families with nephronophthisis, there were two mutations in either NPHP1, NPHP3, or NPHP4, suggesting oligogenicity. PMID: 17855640
9. NPHP3 mutations can cause a broad clinical spectrum of early embryonic patterning defects. PMID: 18371931
10. screened 43 families with infantile nephronophthisis (ESRD less than 5 years of age) for NPHP2 and NPHP3 mutations and determined genotype-phenotype correlations PMID: 19177160
11. The presence of congenital malformations in the case series confirms the crucial role of NPHP3 in early embryonic development of the kidneys and urinary tract. PMID: 19303681

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HGNC: 7907

OMIM: 208540

KEGG: hsa:27031

STRING: 9606.ENSP00000338766

UniGene: Hs.511991