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

By E. Otto, B. Schermer, T. Obara, John F. O'Toole, Karl S. Hiller, A. M. Mueller, R. Ruf, J. Hoefele, Frank Beekmann, D. Landau and 12 more. Nature Genetics, 2003

656 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology, Pediatrics, Perinatology and Child Health

View Paper: https://www.semanticscholar.org/paper/9421d5c614083a4c449f53b80cb25ebb5438ac09

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In Genetics

1. P. Beales
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3. B. Yoder
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Citations in the corpus

• The ciliopathies: an emerging class of human genetic disorders. (2006, background): “Mutations in the human inversin gene (INVS) cause nephronophthisis type 2 (NPHP2) (100).”
• Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis (2005, background): “D ev el op m en t 1908 cilium (Pazour et al., 2002; Yoder et al., 2002) as has the product of the inversin gene, which is mutant in the human kidney cystic condition nephronophthisis type 2 (Otto et al., 2003).”
• Proximal events in Wnt signal transduction (2009, background): “cgi?id=256100">nephronophthisis (an autosomal recessive cystic kidney disease) and is localized to primary cilia and basal bodies”
• Kupffer's vesicle is a ciliated organ of asymmetry in the zebrafish embryo that initiates left-right development of the brain, heart and gut (2005, background): “Another component of cilia, Inversin, has been found in several vertebrates and has been implicated in LR heart orientation in zebrafish (Morgan et al., 2002b; Otto et al., 2003).”
• Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways (2005, background): “Mutations of the ciliary protein inversin cause nephronophthisis type II, an autosomal recessive cystic kidney disease characterized by extensive renal cysts, situs inversus and renal failur”