A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1
Nature Genetics, ISSN: 1061-4036, Vol: 17, Issue: 2, Page: 149-153
1997
- 286Citations
- 51Captures
- 3Mentions
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Metrics Details
- Citations286
- Citation Indexes286
- 286
- CrossRef248
- Captures51
- Readers51
- 51
- Mentions3
- References2
- Wikipedia2
- News Mentions1
- News1
Most Recent News
Atypical histological abnormalities in an adult patient with nephronophthisis harboring NPHP1 deletion: a case report
Abstract Background Nephronophthisis (NPHP) is a chronic tubular interstitial disorder that exhibits an autosomal recessive genetic form and causes progressive renal failure in children. Patients
Article Description
Juvenile nephronophthisis (NPH), an autosomal recessive cystic kidney disease, is the primary genetic cause of chronic renal failure in children. About two thirds of patients with NPH carry a large homozygous deletion at the gene locus NPH1 on 2q13. We here identify a novel gene, NPHP1, which extends over most of this common deletion. The 4.5-kb transcript encodes a protein with an SH3 domain, which is highly conserved throughout evolution. The 11-kb interval between the 3' end of NPHP1 and an inverted repeat containing the distal deletion breakpoint was found to contain the first exon of a second gene, MALL. In patients with a hemizygous deletion of the NPH1 region, additional point mutations were found in NPHP1 but not in MALL.
Bibliographic Details
Springer Science and Business Media LLC
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