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Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases.
Wopperer FJ, Knaup KX, Stanzick KJ, Schneider K, Jobst-Schwan T, Ekici AB, Uebe S, Wenzel A, Schliep S, Schürfeld C, Seitz R, Bernhardt W, Gödel M, Wiesener A, Popp B, Stark KJ, Gröne HJ, Friedrich B, Weiß M, Basic-Jukic N, Schiffer M, Schröppel B, Huettel B, Beck BB; Genomics England Research Consortium; Sayer JA, Ziegler C, Büttner-Herold M, Amann K, Heid IM, Reis A, Pasutto F, Wiesener MS. Wopperer FJ, et al. Among authors: jobst schwan t. Kidney Int. 2022 Aug;102(2):405-420. doi: 10.1016/j.kint.2022.04.031. Epub 2022 May 26. Kidney Int. 2022. PMID: 35643372 Free article.
Renal uptake of the antiapoptotic protein survivin is mediated by megalin at the apical membrane of the proximal tubule.
Jobst-Schwan T, Knaup KX, Nielsen R, Hackenbeck T, Buettner-Herold M, Lechler P, Kroening S, Goppelt-Struebe M, Schloetzer-Schrehardt U, Fürnrohr BG, Voll RE, Amann K, Eckardt KU, Christensen EI, Wiesener MS. Jobst-Schwan T, et al. Am J Physiol Renal Physiol. 2013 Sep 1;305(5):F734-44. doi: 10.1152/ajprenal.00546.2012. Epub 2013 Jul 3. Am J Physiol Renal Physiol. 2013. PMID: 23825075 Free article.
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
Daga A, Majmundar AJ, Braun DA, Gee HY, Lawson JA, Shril S, Jobst-Schwan T, Vivante A, Schapiro D, Tan W, Warejko JK, Widmeier E, Nelson CP, Fathy HM, Gucev Z, Soliman NA, Hashmi S, Halbritter J, Halty M, Kari JA, El-Desoky S, Ferguson MA, Somers MJG, Traum AZ, Stein DR, Daouk GH, Rodig NM, Katz A, Hanna C, Schwaderer AL, Sayer JA, Wassner AJ, Mane S, Lifton RP, Milosevic D, Tasic V, Baum MA, Hildebrandt F. Daga A, et al. Kidney Int. 2018 Jan;93(1):204-213. doi: 10.1016/j.kint.2017.06.025. Epub 2017 Oct 12. Kidney Int. 2018. PMID: 28893421 Free PMC article.
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis.
Amar A, Majmundar AJ, Ullah I, Afzal A, Braun DA, Shril S, Daga A, Jobst-Schwan T, Ahmad M, Sayer JA, Gee HY, Halbritter J, Knöpfel T, Hernando N, Werner A, Wagner C, Khaliq S, Hildebrandt F. Amar A, et al. Among authors: jobst schwan t. Hum Genet. 2019 Mar;138(3):211-219. doi: 10.1007/s00439-019-01978-x. Epub 2019 Feb 18. Hum Genet. 2019. PMID: 30778725 Free PMC article.
Tyrosine Phosphorylation of CD2AP Affects Stability of the Slit Diaphragm Complex.
Tossidou I, Teng B, Worthmann K, Müller-Deile J, Jobst-Schwan T, Kardinal C, Schroder P, Bolanos-Palmieri P, Haller H, Willerding J, Drost DM, de Jonge L, Reubold T, Eschenburg S, Johnson RI, Schiffer M. Tossidou I, et al. Among authors: jobst schwan t. J Am Soc Nephrol. 2019 Jul;30(7):1220-1237. doi: 10.1681/ASN.2018080860. Epub 2019 Jun 24. J Am Soc Nephrol. 2019. PMID: 31235616 Free PMC article.
Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis.
Jobst-Schwan T, Klämbt V, Tarsio M, Heneghan JF, Majmundar AJ, Shril S, Buerger F, Ottlewski I, Shmukler BE, Topaloglu R, Hashmi S, Hafeez F, Emma F, Greco M, Laube GF, Fathy HM, Pohl M, Gellermann J, Milosevic D, Baum MA, Mane S, Lifton RP, Kane PM, Alper SL, Hildebrandt F. Jobst-Schwan T, et al. Kidney Int. 2020 Mar;97(3):567-579. doi: 10.1016/j.kint.2019.09.026. Epub 2019 Oct 22. Kidney Int. 2020. PMID: 31959358 Free PMC article.
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
Majmundar AJ, Widmeier E, Heneghan JF, Daga A, Wu CW, Buerger F, Hugo H, Ullah I, Amar A, Ottlewski I, Braun DA, Jobst-Schwan T, Lawson JA, Zahoor MY, Rodig NM, Tasic V, Nelson CP, Khaliq S, Schönauer R, Halbritter J, Sayer JA, Fathy HM, Baum MA, Shril S, Mane S, Alper SL, Hildebrandt F. Majmundar AJ, et al. Among authors: jobst schwan t. Genet Med. 2023 Mar;25(3):100351. doi: 10.1016/j.gim.2022.11.019. Epub 2022 Dec 6. Genet Med. 2023. PMID: 36571463 Free PMC article.
26 results