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Article

Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice.

Human molecular genetics - 1 Nov 2008

Jiang Si-Tse, Chiou Yuan-Yow, Wang Ellian, Lin Hsiu-Kuan, Lee Sue-Ping, Lu Hsin-Yi, Wang Chi-Kuang Leo, Tang Ming-Jer, Li Hung

Abstract excerpt

Juvenile nephronophthisis type I is the most common genetic disorder causing end-stage renal failure in children and young adults. The defective gene responsible has been identified as NPHP1. Its gene product, nephrocystin-1, is a novel protein of uncertain function that is widely expressed in many tissues and not just confined to the kidney. To gain insight into the physiological function of nephrocystin,...

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Source

Identifiers

PMID: 18684731
DOI: 10.1093/hmg/ddn231

Genes

NPHP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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