Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans- heterozygous mutations

Nature Genetics

Volumn 25, Issue 2, 2000, Pages 143-144

  Watnick, Terry ^a   He, Ning ^b   Wang, Kairong ^b   Liang, Yan ^c   Parfrey, Patrick ^d   Hefferton, Donna ^d   St George Hyslop, Peter ^c   Germino, Gregory ^a   Pei, York ^b  

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

^b UNIVERSITY HEALTH NETWORK   (Canada)

^c Tanz Neuroscience Building 6   (Canada)

^d SUNNYBROOK RESEARCH INSTITUTE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

POLYCYSTIN;

ARTICLE; GENE TARGETING; HETEROZYGOSITY; HUMAN; HUMAN CELL; KIDNEY POLYCYSTIC DISEASE; MOLECULAR GENETICS; PATHOGENESIS; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SOMATIC MUTATION; TREATMENT OUTCOME;

BASE SEQUENCE; CLONE CELLS; DNA MUTATIONAL ANALYSIS; EXONS; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; LOSS OF HETEROZYGOSITY; MEMBRANE PROTEINS; MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; POLYMORPHISM, SINGLE NUCLEOTIDE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; TRPP CATION CHANNELS;

EID: 0034120144     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/75981     Document Type: Article

References (15)

1. Qian, F., Watnick, T.J., Onuchic, L.F. & Germino, G.G. Cell 87, 979-987 (1996).
2. Watnick, T.J. et al. Mol. Cell 2, 247-251 (1998).
3. Koptides, M., Hadjimichael, C., Koupepidou, P., Pierides, A. & Deltas, C.C. Hum. Mol. Genet. 8, 509-513 (1999).
4. Pei, Y. et al. J. Am. Soc. Nephrol. 10, 1524-1529 (1999).
5. Lu, W. et al. Nature Genet. 17, 179-181 (1997).
6. Wu, G. et al. Cell 93, 177-188 (1998).
7. Geng, L. et al. J. Clin. Invest. 98, 2674-2682 (1996).
8. Ong, A.C. et al. Am. J. Pathol. 154, 1721-1729 (1999).
9. Ong, A.C. & Harris, P.C. Lancet 349, 1039-1040 (1997).
10. Pei, Y. et al. J. Am. Soc. Nephrol. 9, 1852-1860 (1998).
11. Torra, R. et al. Kidney Int. 56, 28-33 (1999).
12. Qian, F. et al. Nature Genet. 16, 179-183 (1997).
13. Watnick, T.J. et al. Hum. Mol. Genet. 6, 1473-1481 (1997).
14. Watnick, T.J. et al. Am. J. Hum. Genet. 65, 1561-1571 (1999).
15. Koptides, M., Mean, R., Demetriou, K., Pierides, A. & Deltas, C.C. Hum. Mol. Genet. 12, 447-452 (2000).