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Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.
Bergmann C, Fliegauf M, Brüchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kränzlin B, Nürnberg G, Becker C, Grimm T, Girschick G, Lynch SA, Kelehan P, Senderek J, Neuhaus TJ, Stallmach T, Zentgraf H, Nürnberg P, Gretz N, Lo C, Lienkamp S, Schäfer T, Walz G, Benzing T, Zerres K, Omran H. Bergmann C, et al. Among authors: benzing t. Am J Hum Genet. 2008 Apr;82(4):959-70. doi: 10.1016/j.ajhg.2008.02.017. Epub 2008 Mar 27. Am J Hum Genet. 2008. PMID: 18371931 Free PMC article.
Interaction with podocin facilitates nephrin signaling.
Huber TB, Kottgen M, Schilling B, Walz G, Benzing T. Huber TB, et al. Among authors: benzing t. J Biol Chem. 2001 Nov 9;276(45):41543-6. doi: 10.1074/jbc.C100452200. Epub 2001 Sep 18. J Biol Chem. 2001. PMID: 11562357 Free article.
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. Otto EA, et al. Among authors: benzing t. Nat Genet. 2003 Aug;34(4):413-20. doi: 10.1038/ng1217. Nat Genet. 2003. PMID: 12872123 Free PMC article.
283 results