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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
  • 286
    Citations
  • 0
    Usage
  • 51
    Captures
  • 3
    Mentions
  • 0
    Social Media
Metric Options:   Counts1 Year3 Year

Metrics Details

  • Citations
    286
  • Captures
    51
  • Mentions
    3
    • References
      2
      • Wikipedia
        2
    • News Mentions
      1
      • News
        1

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

Friedhelm Hildebrandt; Edgar Otto; Cornelia Rensing; Hans Gerd Nothwang; Martin Vollmer; Jörn Adolphs; Helge Hanusch; Matthias Brandis

Springer Science and Business Media LLC

Biochemistry, Genetics and Molecular Biology

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