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News and Views
Nature Genetics  34, 355 - 356 (2003)
doi:10.1038/ng0803-355

From cilia to cyst

Terry Watnick & Gregory Germino

Terry Watnick and Gregory Germino are in the Division of Nephrology, Department of Medicine, Johns Hopkins University School of Medicine, Ross 958, 720 Rutland Avenue, Baltimore, Maryland 21205, USA. twatnick@jhmi.edu or ggermino@jhmi.edu

Nephronophthisis is the most common inherited cause of renal failure in children. Two new studies add to the growing body of literature that suggests that cilial dysfunction may underlie all forms of cystic renal disease.

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Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2)
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Ciliary signaling goes down the tubes
Nature Genetics News and Views (01 Feb 2003)

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Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis
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Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination
Nature Genetics Article (01 Aug 2003)

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Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
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