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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.
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.
Signaling at the slit diaphragm.
Benzing T. Benzing T. J Am Soc Nephrol. 2004 Jun;15(6):1382-91. doi: 10.1097/01.asn.0000130167.30769.55. J Am Soc Nephrol. 2004. PMID: 15153549 Free article. Review. No abstract available.
Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation.
Köttgen M, Benzing T, Simmen T, Tauber R, Buchholz B, Feliciangeli S, Huber TB, Schermer B, Kramer-Zucker A, Höpker K, Simmen KC, Tschucke CC, Sandford R, Kim E, Thomas G, Walz G. Köttgen M, et al. Among authors: benzing t. EMBO J. 2005 Feb 23;24(4):705-16. doi: 10.1038/sj.emboj.7600566. Epub 2005 Feb 3. EMBO J. 2005. PMID: 15692563 Free PMC article.
245 results