ARPKD and ADPKD: First cousins or more distant relatives?

被引：14

作者：

Kaimori, Jun-ya ^{[1
]}

Germino, Gregory G. ^{[1
,2
,3
]}

机构：

[1] Johns Hopkins Univ, Sch Med, Div Nephrol, Baltimore, MD USA

[2] Johns Hopkins Univ, Sch Med, Dept Med, Baltimore, MD 21205 USA

[3] Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet, Baltimore, MD 21205 USA

来源：

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY | 2008年 / 19卷 / 03期

关键词：

D O I：

10.1681/ASN.2008010033

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：

引用

页码：416 / 418

页数：3

共 15 条

[1] Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2) [J].

Boucher, C ;

Sandford, R .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2004, 12 (05) :347-354

[2]

CHEVALIER RL, 1981, INT J PED NEPHROL, V2, P73

[3] Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway [J].

Garcia-Gonzalez, Miguel A. ;

Menezes, Luis F. ;

Piontek, Klaus B. ;

Kaimori, Junya ;

Huso, David L. ;

Watnick, Terry ;

Onuchic, Luiz F. ;

Guay-Woodford, Lisa M. ;

Germino, Gregory G. .

HUMAN MOLECULAR GENETICS, 2007, 16 (16) :1940-1950

[4] Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist [J].

Gattone, VH ;

Wang, XF ;

Harris, PC ;

Torres, VE .

NATURE MEDICINE, 2003, 9 (10) :1323-1326

[5] Autosomal recessive polycystic kidney disease: The clinical experience in North America [J].

Guay-Woodford, LM ;

Desmond, RA .

PEDIATRICS, 2003, 111 (05) :1072-1080

[6] Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function [J].

Kim, Ingyu ;

Fu, Yulong ;

Hui, Kwokyin ;

Moeckel, Gilbert ;

Mai, Weiyi ;

Li, Cunxi ;

Liang, Dan ;

Zhao, Ping ;

Ma, Jie ;

Chen, Xing-Zhen ;

George, Alfred L., Jr. ;

Coffey, Robert J. ;

Feng, Zhong-Ping ;

Wu, Guanqing .

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2008, 19 (03) :455-468

[7] POLYCYSTIC KIDNEY-DISEASE - ETIOLOGY, PATHOGENESIS, AND TREATMENT [J].

MARTINEZ, JR .

DM DISEASE-A-MONTH, 1995, 41 (11) :698-765

[8] PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats [J].

Onuchic, LF ;

Furu, L ;

Nagasawa, Y ;

Hou, XY ;

Eggermann, T ;

Ren, ZY ;

Bergmann, C ;

Senderek, J ;

Esquivel, E ;

Zeltner, R ;

Rudnik-Schöneborn, S ;

Mrug, M ;

Sweeney, W ;

Avner, ED ;

Zerres, K ;

Guay-Woodford, LM ;

Somlo, S ;

Germino, GG .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (05) :1305-1317

[9] The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I [J].

Qian, F ;

Watnick, TJ ;

Onuchic, LF ;

Germino, GG .

CELL, 1996, 87 (06) :979-987

[10] Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease [J].

Torres, VE ;

Wang, XF ;

Qian, Q ;

Somlo, S ;

Harris, PC ;

Gattone, VH .

NATURE MEDICINE, 2004, 10 (04) :363-364

← 1 2 →