Autosomal dominant polycystic kidney disease: A two-hit model

Hospital Practice

Volumn 32, Issue 3, 1997, Pages 81-102

  Germino, Gregory G ^a,b,c  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b Department of Medicine ^*  (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL; MEMBRANE PROTEIN;

AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 16; CHROMOSOME 4; DNA CONFORMATION; GENE LOCATION; GENETIC SCREENING; GERM LINE; INCIDENCE; KIDNEY CYST; KIDNEY DEVELOPMENT; KIDNEY FAILURE; KIDNEY PARENCHYMA; KIDNEY POLYCYSTIC DISEASE; PENETRANCE; RECESSIVE INHERITANCE; REVIEW; SOMATIC MUTATION; TRIPLE HELIX;

EID: 0030890519     PISSN: 87502836     EISSN: None     Source Type: Journal    
DOI: 10.1080/21548331.1997.11443444     Document Type: Review

References (9)

1. American PKD1 Consortium: Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. Hum Mol Genet 4:575, 1995
2. Germino GG: Cloning strategies and genetics of type 1 autosomal dominant polycystic kidney disease. In Polycystic Kidney Disease, Watson M, Torres V (Eds). Oxford University Press, New York, 1996, pp 356-390
3. Himmelbauer H et al: Human-mouse homologies in the region of the polycystic kidney disease gene (PKD1). Genomics 13:35, 1992
4. International Polycystic Kidney Disease Consortium: Polycystic kidney disease: The complete structure of the PKD1 gene and its protein. Cell 81:289, 1995
5. Mochizuki T et al: PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 272:1339, 1996
6. Moy GW et al: The sea urchin sperm receptor for egg jelly is a modular protein with extensive homology to the human polycystic kidney disease protein, PKD1. J Cell Biol 133:809, 1996
7. Qian F et al: PKD1 Interacts with PKD2 through a probable coiled-coil domain. J Am Soc Nephrol 7:1620, 1996
8. Qian F et al: The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. Cell 87:979, 1996
9. Wang G, Seidman MM, Glazer PM: Mutagenesis in mammalian cells induced by triple helix formation and transcription-coupled repair. Science 271:802, 1996