Genetics and pathogenesis of polycystic kidney disease

被引:414
作者
Igarashi, P
Somlo, S
机构
[1] Univ Texas, SW Med Ctr, Div Nephrol, Dept Internal Med, Dallas, TX 75390 USA
[2] Yale Univ, Sch Med, Dept Internal Med, New Haven, CT 06510 USA
[3] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA
来源
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY | 2002年 / 13卷 / 09期
关键词
D O I
10.1097/01.ASN.0000028643.17901.42
中图分类号
R5 [内科学]; R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:2384 / 2398
页数:15
相关论文
共 129 条
[51]   LINKAGE HETEROGENEITY OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY-DISEASE [J].
KIMBERLING, WJ ;
FAIN, PR ;
KENYON, JB ;
GOLDGAR, D ;
SUJANSKY, E ;
GABOW, PA .
NEW ENGLAND JOURNAL OF MEDICINE, 1988, 319 (14) :913-918
[52]   Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease [J].
Koptides, M ;
Hadjimichael, C ;
Koupepidou, P ;
Pierides, A ;
Deltas, CC .
HUMAN MOLECULAR GENETICS, 1999, 8 (03) :509-513
[53]   Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease [J].
Koptides, M ;
Mean, R ;
Demetriou, K ;
Pierides, A ;
Deltas, CC .
HUMAN MOLECULAR GENETICS, 2000, 9 (03) :447-452
[54]   Polycystin-2 is an intracellular calcium release channel [J].
Koulen, P ;
Cai, YQ ;
Geng, L ;
Maeda, Y ;
Nishimura, S ;
Witzgall, R ;
Ehrlich, BE ;
Somlo, S .
NATURE CELL BIOLOGY, 2002, 4 (03) :191-197
[55]   Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation [J].
Lu, WN ;
Peissel, B ;
Babakhanlou, H ;
Pavlova, A ;
Geng, L ;
Fan, XH ;
Larson, C ;
Brent, G ;
Zhou, J .
NATURE GENETICS, 1997, 17 (02) :179-181
[56]   Comparison of Pkd1-targeted mutants reveals that loss of polycystin-1 causes cystogenesis and bone defects [J].
Lu, WN ;
Shen, XH ;
Pavlova, A ;
Lakkis, M ;
Ward, CJ ;
Pritchard, L ;
Harris, PC ;
Genest, DR ;
Perez-Atayde, AR ;
Zhou, J .
HUMAN MOLECULAR GENETICS, 2001, 10 (21) :2385-2396
[57]   Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes [J].
Lu, WN ;
Fan, XH ;
Basora, N ;
Babakhanlou, H ;
Law, T ;
Rifai, N ;
Harris, PC ;
Perez-Atayde, AR ;
Rennke, HG ;
Zhou, J .
NATURE GENETICS, 1999, 21 (02) :160-161
[58]   Polycystin-2 expression is developmentally regulated [J].
Markowitz, GS ;
Cai, YQ ;
Li, L ;
Wu, GQ ;
Ward, LC ;
Somlo, S ;
D'Agati, VD .
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY, 1999, 277 (01) :F17-F25
[59]   suREJ3, a polycystin-1 protein, is cleaved at the GPS domain and localizes to the acrosomal region of sea urchin sperm [J].
Mengerink, KJ ;
Moy, GW ;
Vacquier, VD .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2002, 277 (02) :943-948
[60]   INTRAFAMILIAL PHENOTYPIC-EXPRESSION OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY-DISEASE [J].
MILUTINOVIC, J ;
RUST, PF ;
FIALKOW, PJ ;
AGODOA, LY ;
PHILLIPS, LA ;
RUDD, TG ;
SUTHERLAND, S .
AMERICAN JOURNAL OF KIDNEY DISEASES, 1992, 19 (05) :465-472