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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: kispert a. 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.
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
Birkenhäger R, Otto E, Schürmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford DV, Jeck N, Konrad M, Landau D, Knoers NV, Antignac C, Sudbrak R, Kispert A, Hildebrandt F. Birkenhäger R, et al. Among authors: kispert a. Nat Genet. 2001 Nov;29(3):310-4. doi: 10.1038/ng752. Nat Genet. 2001. PMID: 11687798
Tbx18 expression demarcates multipotent precursor populations in the developing urogenital system but is exclusively required within the ureteric mesenchymal lineage to suppress a renal stromal fate.
Bohnenpoll T, Bettenhausen E, Weiss AC, Foik AB, Trowe MO, Blank P, Airik R, Kispert A. Bohnenpoll T, et al. Among authors: kispert a. Dev Biol. 2013 Aug 1;380(1):25-36. doi: 10.1016/j.ydbio.2013.04.036. Epub 2013 May 15. Dev Biol. 2013. PMID: 23685333 Free article.
Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling.
Airik R, Slaats GG, Guo Z, Weiss AC, Khan N, Ghosh A, Hurd TW, Bekker-Jensen S, Schrøder JM, Elledge SJ, Andersen JS, Kispert A, Castelli M, Boletta A, Giles RH, Hildebrandt F. Airik R, et al. Among authors: kispert a. J Am Soc Nephrol. 2014 Nov;25(11):2573-83. doi: 10.1681/ASN.2013050565. Epub 2014 Apr 10. J Am Soc Nephrol. 2014. PMID: 24722439 Free PMC article.
Ureter growth and differentiation.
Bohnenpoll T, Kispert A. Bohnenpoll T, et al. Among authors: kispert a. Semin Cell Dev Biol. 2014 Dec;36:21-30. doi: 10.1016/j.semcdb.2014.07.014. Epub 2014 Aug 1. Semin Cell Dev Biol. 2014. PMID: 25087982 Review.
189 results