Læknablaðið - 15.01.1999, Qupperneq 48

42
LÆKNABLAÐIÐ 1999; 85
15. Peral B, Gamble V, San Millan JL, Strong C, Sloane-
Stanley J, Moreno F, et al. Splicing mutations of the poly-
cystic kidney disease 1 (PKDl) gene induced by intronic
deletion. Hum Mol Genet 1995; 4: 569-74.
16. Peral B, San Millan J, Ong A, Gamble V, Ward C, Strong C,
et al. Screening the 3' region of the polycystic kidney dis-
ease 1 (PKDl) gene reveals 6 novel mutations. Am J Hum
Genet 1996; 58: 86-96.
17. Peral B, Gamble V, Strong C, Ong A, Sloane-Stanley J,
Zerres K, et al. Identification of mutations in the duplicated
region of the polycystic kidney disease 1 (PKDl) gene by a
novel approach. Am J Hum Genet 1997; 60: 1399-410.
18. Watnick T, Piontek K, Cordal T, Weber H, Gandolph M,
Qian F, et al. An unusual pattem of mutations in the dupli-
cated portion of PKDl is revealed by use of a novel strategy
for mutation detection. Hum Mol Genet 1997; 6: 1473-81.
19. Veldhuisen B, Saris J, de Haij S, Hayashi T, Reynolds D,
Mochizuki T, et al. A spectrum of mutations in the second
gene for autosomal dominant polycystic kidney disease
(PKD2). Am J Hum Genet 1997; 61: 547-55.
20. Viribay M, Hayashi T, Telleria D, Mochizuki T, Reynolds
D, Alonso R, et al. Novel stop and frameshifting mutations
in the autosomal dominant polycystic kidney disease 2
(PKD2) gene. Hum Genet 1997; 101: 229-34.
21. Xenophontos S, Constantinides R, Hayashi T, Mochizuki T,
Somlo S, Pierides A, et al. A translation frameshift mutation
induced by a cytosine insertion in the polycystic kidney
disease 2 gene (PKD2). Hum Mol Genet 1997; 6: 949-52.
22. Hughes J, Ward CJ, Belen P, Aspinwall R, Clark K, San
Millan JL, et al. The polycystic kidney disease 1 (PKDl)
gene encodes a novel protein with multiple cell recognition
domains. Nature Genetics 1995; 10: 151-60.
23. Moy G, Mendoza L, Schulz J, Swanson W, Glabe C, Vacq-
uier V. The sea urchin sperm receptor for egg jelly is a
modular protein with extensive homology to the human
polycystic kidney disease protein, PKDl. J Cell Biol 1996;
133: 809-17.
24. Qian F, Germino F, Cai Y, Zhang X, Somlo S, Germino G.
PKDl interacts with PKD2 through a probable coiled-coil
domain. Nature Genet 1997; 16: 179-83.
25. Tsiokas L, Kim E, Amould T, Sukhatme V, Walz G. Homo-
and heterodimeric interaction between the gene products of
PKDl and PKD2. Proc Natl Acad Sci USA 1997; 94: 6965-
70.
26. Torres V. New insights into polycystic kidney disease and
its treatment. Current Op Nephrol Hypert 1998; 7: 159-69.
27. Ward C, Turley H, Ong A, Comley M, Biddolph S, Chetty
R, et al. Polycystin, the polycystic kidney disease 1 protein,
is expressed by epithelial cells in fetal, adult and polycystic
kidney. Proc Natl Acad Sci USA 1996; 93: 1524-8.
28. Palsson R, Sharma C, Kim K, McLaughlin M, Brown D,
Arnaout M. Characterization and cell distribution of
polycystin, the product of autosomal dominant polycystic
kidney disease genel. Mole Med 1996; 2: 702-11.
29. Geng L, Segal Y, Peissel B, Deng N, Pei Y, Carone F, et al.
Identification and localization of polycystin, the PKDl
gene product. J Clin Invest 1996; 98: 2674-82.
30. Griffin M, Torres V, Grande J, Kumar R. Immunolocaliza-
tion of polycystin in human tissues and cultured cells. Proc
AssAmerPhys 1996; 108: 185-97.
31. Cai Y, Maeda Y, Wu G, Park J, Reynolds D, Torres V, et al.
Cellular and subcellular localization of polycystin-2
[abstract]. J Am Soc Nephrol 1997; 8: 371 (A).
32. Peters D, Spruit L, Klingel R, Prins F, Baelde H, Giordano
P, et al. Adult, fetal and polycystic kidney expression of
polycystin, the polycystic kidney disease-1 gene product.
Lab Invest 1996; 75:221-30.
33. Bear J, McManamon P, Morgan J, Payne R, Lewis H, Gault
M, et al. Age at clinical onset and at ultrasonographic detec-
tion of adult polycystic kidney disease: data for genetic
counselling. Am J Med Genet 1984; 18: 45-53.
34. Bell G, Karam J, Rutter W. Polymorphic DNA region adja-
cent to the 5’ end of the human insulin gene. Proc Natl Acad
Sci USA 1981;78:5759-63.
35. Weber J, May P. Abundant class of human DNA polymorp-
hisms which can be typed using the polymerase chain
reaction. Am J Hum Genet 1989; 44: 388-96.
36. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Mill-
asseau P, et al. The 1993-94 Genethon human genetic
linkage map. Nature Genet 1994; 7: 246-339.
37. Snarey A, Thomas S, Schneider MC, Pound SE, Barton N,
Wright AF, et al. Linkage disequilibrium in the region of the
autosomal dominant polycystic kidney disease gene
(PKD1). Am J Hum Genet 1994; 55: 365-71.
38. Thompson A, Shen Y, Holman K, Sutherland G, Callen D,
Richard R. Isolation and characterisation of (AC)n
microsatellite genetic markers from human chromosome
16. Genomics 1992; 13: 402-8.
39. Peral B, Ward CJ, San Millan JL, Thomas S, Stallings RL,
Moreno F, et al. Evidence of linkage disequilibrium in the
Spanish polycystic kidney diseasel (PKDl) population.
Am J Hum Genet 1994; 54: 899-908.
40. Harris PC, Thomas S, Ratcliffe PJ, Breuning MH, Coto E,
Lopez-Larrea C. Rapid genetic analysis of families with
polycystic kidney disease by means of a microsatellite
marker. Lancet 1991; 338: 1484-7.
41. Weissenbach J, Gyapay G, Dib C, Vignal A, Morissette J,
Millasseau P, et al. A second-generation linkage map of the
human genome. Nature 1992; 359: 794-801.
42. Fossdal R, Bodvarsson M, Asmundsson P, Ragnarsson J,
Peters D, Breuning MH, et al. Icelandic families with
autosomal dominant polycystic kidney disease: families
unlinked to chromosome 16p 13.3 revealed by linkage
analysis. Hum Genet 1993; 91: 609-13.
43. Nörby S, Schwartz M. Possible locus for polycystic kidney
disease on chromosome 2. Lancet 1990; 336: 323-4.
44. Grantham JJ, Geiser JL, Evan AP. Cyst formation and
growth in autosomal dominant polycystic kidney disease.
Kidney Int 1987; 31: 1145-52.
45. Harris P. Autosomal dominant polycystic kidney disease: a
genetic perspective. Nephrology 1997; 3: 387-95.
46. Brook-Carter PT, Peral B, Ward CJ. Deletion of the TSC2
and PKD1 genes associated with severe infantile polycystic
kidney disease - a contiguous gene syndrome. Nature Genet
1994; 8: 328-32.
47. Qian F, Watnick T, Onuchic L, Germino G. The molecular
basis of focal cyst formation in human autosomal dominant
polycystic kidney disease type 1. Cell 1996; 87: 979-87.
48. Brasier J, Henske E. Loss of the polycystic kidney disease
(PKDl) region of chromosome 16p 13 in renal cyst cells
supports a loss-of-function model for cyst pathogenesis. J
Clin Invest 1997; 99: 194-9.
49. Reeders S. Multilocus polycystic disease. Nature Genet
1992; 1:235-7.
50. Olsson P, Lohning C, Horsley S, Keamey L, Harris P, Frisc-
hauf A. The mouse homologoue of the polycystic kidney
disease gene (Pkdl) is a single-copy gene. Genomics 1996
1996; 34: 233-5.
51. Lu W, Peissel B, Babakhanlou H, Pavlova A, Geng L, Fan
X, et al. Perinatal lethality with kidneys and pancreas de-
fects in mice with a targeted Pkdl mutation. Nature Genet
1997; 17: 179-81.
52. Parfrey PS, Bear JC, Morgan J. The diagnosis and progno-
sis of autosomal dominant polycystic kidney disease. N
Engl J Med 1990; 323: 1085-90.
53. Ravine D, Walker RG, Gibson RN, Forrest SM, Richards
RJ, Friend K, et al. Phenotype and genotype heterogeneity
in autosomal dominant polycystic kidney disease. Lancet
1992; 340: 1330-3.
54. Coto E, Sanz de Castro S, Aguado S, Alvarez J, Arias M,
Menendez MJ, et al. DNA microsatellite analysis of fami-
lies with autosomal dominant polycystic kidney disease
types 1 and 2: evaluation of clinical heterogeneity between
both forms of the disease. J Med Genet 1995; 32: 442-5.