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Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans.
Klämbt V, Werth M, Onuchic-Whitford AC, Getwan M, Kitzler TM, Buerger F, Mao Y, Deutsch K, Mann N, Majmundar AJ, Kaminski MM, Shen T, Schmidt-Ott KM, Shalaby M, El Desoky S, Kari JA, Shril S, Lienkamp SS, Barasch J, Hildebrandt F. Klämbt V, et al. Among authors: lienkamp ss. Nephrol Dial Transplant. 2021 Jan 25;36(2):237-246. doi: 10.1093/ndt/gfaa215. Nephrol Dial Transplant. 2021. PMID: 33097957 Free PMC article.
Reflective multi-immersion microscope objectives inspired by the Schmidt telescope.
Voigt FF, Reuss AM, Naert T, Hildebrand S, Schaettin M, Hotz AL, Whitehead L, Bahl A, Neuhauss SCF, Roebroeck A, Stoeckli ET, Lienkamp SS, Aguzzi A, Helmchen F. Voigt FF, et al. Among authors: lienkamp ss. Nat Biotechnol. 2024 Jan;42(1):65-71. doi: 10.1038/s41587-023-01717-8. Epub 2023 Mar 30. Nat Biotechnol. 2024. PMID: 36997681 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. 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.
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.
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.
Vivante A, Kleppa MJ, Schulz J, Kohl S, Sharma A, Chen J, Shril S, Hwang DY, Weiss AC, Kaminski MM, Shukrun R, Kemper MJ, Lehnhardt A, Beetz R, Sanna-Cherchi S, Verbitsky M, Gharavi AG, Stuart HM, Feather SA, Goodship JA, Goodship TH, Woolf AS, Westra SJ, Doody DP, Bauer SB, Lee RS, Adam RM, Lu W, Reutter HM, Kehinde EO, Mancini EJ, Lifton RP, Tasic V, Lienkamp SS, Jüppner H, Kispert A, Hildebrandt F. Vivante A, et al. Among authors: lienkamp ss. Am J Hum Genet. 2015 Aug 6;97(2):291-301. doi: 10.1016/j.ajhg.2015.07.001. Epub 2015 Jul 30. Am J Hum Genet. 2015. PMID: 26235987 Free PMC article.
A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.
Vivante A, Mann N, Yonath H, Weiss AC, Getwan M, Kaminski MM, Bohnenpoll T, Teyssier C, Chen J, Shril S, van der Ven AT, Ityel H, Schmidt JM, Widmeier E, Bauer SB, Sanna-Cherchi S, Gharavi AG, Lu W, Magen D, Shukrun R, Lifton RP, Tasic V, Stanescu HC, Cavaillès V, Kleta R, Anikster Y, Dekel B, Kispert A, Lienkamp SS, Hildebrandt F. Vivante A, et al. Among authors: lienkamp ss. J Am Soc Nephrol. 2017 Aug;28(8):2364-2376. doi: 10.1681/ASN.2016060694. Epub 2017 Apr 5. J Am Soc Nephrol. 2017. PMID: 28381549 Free PMC article.
Toolbox in a tadpole: Xenopus for kidney research.
Getwan M, Lienkamp SS. Getwan M, et al. Among authors: lienkamp ss. Cell Tissue Res. 2017 Jul;369(1):143-157. doi: 10.1007/s00441-017-2611-2. Epub 2017 Apr 11. Cell Tissue Res. 2017. PMID: 28401306 Review.
47 results