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Items: 1 to 20 of 52

1.

Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist.

Gattone VH 2nd, Wang X, Harris PC, Torres VE.

Nat Med. 2003 Oct;9(10):1323-6. Epub 2003 Sep 21.

PMID:
14502283
2.

Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia.

Ward CJ, Yuan D, Masyuk TV, Wang X, Punyashthiti R, Whelan S, Bacallao R, Torra R, LaRusso NF, Torres VE, Harris PC.

Hum Mol Genet. 2003 Oct 15;12(20):2703-10. Epub 2003 Aug 12.

PMID:
12925574
3.

From cilia to cyst.

Watnick T, Germino G.

Nat Genet. 2003 Aug;34(4):355-6. No abstract available.

PMID:
12923538
4.

Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney development.

Bohn S, Thomas H, Turan G, Ellard S, Bingham C, Hattersley AT, Ryffel GU.

J Am Soc Nephrol. 2003 Aug;14(8):2033-41.

PMID:
12874457
5.

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.

Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F.

Nat Genet. 2003 Aug;34(4):413-20.

PMID:
12872123
6.

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F, Omran H.

Nat Genet. 2003 Aug;34(4):455-9.

PMID:
12872122
7.

Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease.

Lin F, Hiesberger T, Cordes K, Sinclair AM, Goldstein LS, Somlo S, Igarashi P.

Proc Natl Acad Sci U S A. 2003 Apr 29;100(9):5286-91. Epub 2003 Apr 2.

PMID:
12672950
8.

Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells.

Nauli SM, Alenghat FJ, Luo Y, Williams E, Vassilev P, Li X, Elia AE, Lu W, Brown EM, Quinn SJ, Ingber DE, Zhou J.

Nat Genet. 2003 Feb;33(2):129-37. Epub 2003 Jan 6.

PMID:
12514735
9.

Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.

Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ.

J Med Genet. 2002 Dec;39(12):882-92.

PMID:
12471200
10.

Bi-allelic inactivation of TCF1 in hepatic adenomas.

Bluteau O, Jeannot E, Bioulac-Sage P, Marqués JM, Blanc JF, Bui H, Beaudoin JC, Franco D, Balabaud C, Laurent-Puig P, Zucman-Rossi J.

Nat Genet. 2002 Oct;32(2):312-5. Epub 2002 Sep 23.

PMID:
12355088
11.

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.

Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhäger R, Sudbrak R, Hennies HC, Nürnberg P, Hildebrandt F.

Am J Hum Genet. 2002 Nov;71(5):1161-7. Epub 2002 Aug 29.

PMID:
12205563
12.

Genetics and pathogenesis of polycystic kidney disease.

Igarashi P, Somlo S.

J Am Soc Nephrol. 2002 Sep;13(9):2384-98. Review. No abstract available.

PMID:
12191984
13.

Coordinating early kidney development: lessons from gene targeting.

Vainio S, Lin Y.

Nat Rev Genet. 2002 Jul;3(7):533-43. Review.

PMID:
12094231
14.

Epithelial-specific Cre/lox recombination in the developing kidney and genitourinary tract.

Shao X, Somlo S, Igarashi P.

J Am Soc Nephrol. 2002 Jul;13(7):1837-46.

PMID:
12089379
15.

Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease.

Pazour GJ, San Agustin JT, Follit JA, Rosenbaum JL, Witman GB.

Curr Biol. 2002 Jun 4;12(11):R378-80. No abstract available.

PMID:
12062067
16.

PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2.

Bhunia AK, Piontek K, Boletta A, Liu L, Qian F, Xu PN, Germino FJ, Germino GG.

Cell. 2002 Apr 19;109(2):157-68.

PMID:
12007403
17.

Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1beta.

Coffinier C, Gresh L, Fiette L, Tronche F, Schütz G, Babinet C, Pontoglio M, Yaniv M, Barra J.

Development. 2002 Apr;129(8):1829-38.

PMID:
11934849
18.

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.

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.

Nat Genet. 2002 Mar;30(3):259-69. Epub 2002 Feb 4.

PMID:
11919560
19.

Constitutive activation of G-proteins by polycystin-1 is antagonized by polycystin-2.

Delmas P, Nomura H, Li X, Lakkis M, Luo Y, Segal Y, Fernández-Fernández JM, Harris P, Frischauf AM, Brown DA, Zhou J.

J Biol Chem. 2002 Mar 29;277(13):11276-83. Epub 2002 Jan 10.

PMID:
11786542
20.
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