ARPKD and ADPKD: First cousins or more distant relatives?

Journal of the American Society of Nephrology

Volumn 19, Issue 3, 2008, Pages 416-418

  Kaimori, Jun Ya ^a   Germino, Gregory G ^a,b  

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

^b NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

POLYCYSTIN 1; POLYCYSTIN 2;

AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE; EDITORIAL; EUKARYOTIC FLAGELLUM; GENE INTERACTION; GENE MUTATION; HOMOZYGOTE; KIDNEY CYST; KIDNEY INJURY; KIDNEY POLYCYSTIC DISEASE; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN STRUCTURE; RESPIRATORY FAILURE;

EID: 40449095720     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2008010033     Document Type: Editorial

References (15)

1. Boucher C, Sandford R: Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2). Eur J Hum Genet 12: 347-354, 2004
2. Guay-Woodford LM, Desmond RA: Autosomal recessive polycystic kidney disease: The clinical experience in North America. Pediatrics 111: 1072-1080, 2003
3. Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Rudnik-Schoneborn S, Mrug M, Sweeney W, Avner ED, Zerres K, Guay-Woodford LM, Somlo S, Germino GG: 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. Am J Hum Genet 70: 1305-1317, 2002
4. Ward CJ, Hogan MC, Rossetti S, Walker D, Sneddon T, Wang X, Kubly V, Cunningham JM, Bacallao R, Ishibashi M, Milliner DS, Torres VE, Harris PC: The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet 30: 259-269, 2002
5. Chevalier RL, Garland TA, Buschi AJ: The neonate with adult-type autosomal dominant polycystic kidney disease. Int J Pediatr Nephrol 2: 73-77, 1981
6. Martinez JR, Grantham JJ: Polycystic kidney disease: Etiology, pathogenesis, and treatment. Dis Mon 41: 693-765, 1995
7. Qian F, Watnick TJ, Onuchic LF, Germino GG: The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. Cell 87: 979-987, 1996
8. Yu S, Hackmann K, Gao J, He X, Piontek K, Garcia Gonzalez MA, Menezes LF, Xu H, Germino GG, Zuo J, Qian F: Essential role of cleavage of polycystin-1 at G protein-coupled receptor proteolytic site for kidney tubular structure. Proc Natl Acad Sci U S A 104: 18688-18693, 2007
9. Watnick T, Germino G: From cilia to cyst. Nat Genet 34: 355-356, 2003
10. Gattone VH 2nd, Wang X, Harris PC, Torres VE: Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist. Nat Med 9: 1323-1326, 2003
11. Torres VE, Wang X, Qian Q, Somlo S, Harris PC, Gattone VH 2nd: Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease. Nat Med 10: 363-364, 2004
12. Wu Y, Dai XQ, Li Q, Chen CX, Mai W, Hussain Z, Long W, Montalbetti N, Li G, Glynne R, Wang S, Cantiello HF, Wu G, Chen XZ: Kinesin-2 mediates physical and functional interactions between polycystin-2 and fibrocystin. Hum Mol Genet 15: 3280-3292, 2006
13. Wang S, Zhang J, Nauli SM, Li X, Starremans PG, Luo Y, Roberts KA, Zhou J: Fibrocystin/polyductin, found in the same protein complex with polycystin-2, regulates calcium responses in kidney epithelia. Mol Cell Biol 27: 3241-3252, 2007
14. Garcia-Gonzalez MA, Menezes LF, Piontek KB, Kaimori J, Huso DL, Watnick T, Onuchic LF, Guay-Woodford LM, Germino GG: Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway. Hum Mol Genet 16: 1940-1950, 2007
15. Kim I, Fu Y, Hui K, Moeckel G, Mai W, Li C, Liang D, Zhao P, Ma J, Chen XZ, George AL Jr, Coffey RJ, Feng ZP, Wu G: Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function. J Am Soc Nephrol 19: 455-468, 2008