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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: lienkamp s. 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.
Genetic and physical interaction between the NPHP5 and NPHP6 gene products.
Schäfer T, Pütz M, Lienkamp S, Ganner A, Bergbreiter A, Ramachandran H, Gieloff V, Gerner M, Mattonet C, Czarnecki PG, Sayer JA, Otto EA, Hildebrandt F, Kramer-Zucker A, Walz G. Schäfer T, et al. Among authors: lienkamp s. Hum Mol Genet. 2008 Dec 1;17(23):3655-62. doi: 10.1093/hmg/ddn260. Epub 2008 Aug 23. Hum Mol Genet. 2008. PMID: 18723859 Free PMC article.
Regulation of ciliary polarity by the APC/C.
Ganner A, Lienkamp S, Schäfer T, Romaker D, Wegierski T, Park TJ, Spreitzer S, Simons M, Gloy J, Kim E, Wallingford JB, Walz G. Ganner A, et al. Among authors: lienkamp s. Proc Natl Acad Sci U S A. 2009 Oct 20;106(42):17799-804. doi: 10.1073/pnas.0909465106. Epub 2009 Oct 5. Proc Natl Acad Sci U S A. 2009. PMID: 19805045 Free PMC article.
Inversin relays Frizzled-8 signals to promote proximal pronephros development.
Lienkamp S, Ganner A, Boehlke C, Schmidt T, Arnold SJ, Schäfer T, Romaker D, Schuler J, Hoff S, Powelske C, Eifler A, Krönig C, Bullerkotte A, Nitschke R, Kuehn EW, Kim E, Burkhardt H, Brox T, Ronneberger O, Gloy J, Walz G. Lienkamp S, et al. Proc Natl Acad Sci U S A. 2010 Nov 23;107(47):20388-93. doi: 10.1073/pnas.1013070107. Epub 2010 Nov 8. Proc Natl Acad Sci U S A. 2010. PMID: 21059920 Free PMC article.
Inversin, Wnt signaling and primary cilia.
Lienkamp S, Ganner A, Walz G. Lienkamp S, et al. Differentiation. 2012 Feb;83(2):S49-55. doi: 10.1016/j.diff.2011.11.012. Epub 2011 Dec 27. Differentiation. 2012. PMID: 22206729 Review.
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
Hoff S, Halbritter J, Epting D, Frank V, Nguyen TM, van Reeuwijk J, Boehlke C, Schell C, Yasunaga T, Helmstädter M, Mergen M, Filhol E, Boldt K, Horn N, Ueffing M, Otto EA, Eisenberger T, Elting MW, van Wijk JA, Bockenhauer D, Sebire NJ, Rittig S, Vyberg M, Ring T, Pohl M, Pape L, Neuhaus TJ, Elshakhs NA, Koon SJ, Harris PC, Grahammer F, Huber TB, Kuehn EW, Kramer-Zucker A, Bolz HJ, Roepman R, Saunier S, Walz G, Hildebrandt F, Bergmann C, Lienkamp SS. Hoff S, et al. Among authors: lienkamp ss. Nat Genet. 2013 Aug;45(8):951-6. doi: 10.1038/ng.2681. Epub 2013 Jun 23. Nat Genet. 2013. PMID: 23793029 Free PMC article.
52 results