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Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria.
Dhayat N, Simonin A, Anderegg M, Pathare G, Lüscher BP, Deisl C, Albano G, Mordasini D, Hediger MA, Surbek DV, Vogt B, Sass JO, Kloeckener-Gruissem B, Fuster DG. Dhayat N, et al. Among authors: sass jo. J Am Soc Nephrol. 2016 May;27(5):1426-36. doi: 10.1681/ASN.2015040411. Epub 2015 Sep 16. J Am Soc Nephrol. 2016. PMID: 26376857 Free PMC article.
mTOR Regulates Endocytosis and Nutrient Transport in Proximal Tubular Cells.
Grahammer F, Ramakrishnan SK, Rinschen MM, Larionov AA, Syed M, Khatib H, Roerden M, Sass JO, Helmstaedter M, Osenberg D, Kühne L, Kretz O, Wanner N, Jouret F, Benzing T, Artunc F, Huber TB, Theilig F. Grahammer F, et al. Among authors: sass jo. J Am Soc Nephrol. 2017 Jan;28(1):230-241. doi: 10.1681/ASN.2015111224. Epub 2016 Jun 13. J Am Soc Nephrol. 2017. PMID: 27297946 Free PMC article.
Screening for hypophosphatasia: does biochemistry lead the way?
Held CM, Guebelin A, Krebs A, Sass JO, Wurm M, Lausch E, van der Werf-Grohmann N, Schwab KO. Held CM, et al. Among authors: sass jo. J Pediatr Endocrinol Metab. 2021 Sep 22;35(2):169-178. doi: 10.1515/jpem-2021-0104. Print 2022 Feb 23. J Pediatr Endocrinol Metab. 2021. PMID: 34551461
Amino acids regulate transgene expression in MDCK cells.
Torrente M, Guetg A, Sass JO, Arps L, Ruckstuhl L, Camargo SM, Verrey F. Torrente M, et al. Among authors: sass jo. PLoS One. 2014 May 5;9(5):e96823. doi: 10.1371/journal.pone.0096823. eCollection 2014. PLoS One. 2014. PMID: 24797296 Free PMC article.
Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein.
Oerum S, Roovers M, Leichsenring M, Acquaviva-Bourdain C, Beermann F, Gemperle-Britschgi C, Fouilhoux A, Korwitz-Reichelt A, Bailey HJ, Droogmans L, Oppermann U, Sass JO, Yue WW. Oerum S, et al. Among authors: sass jo. Biochim Biophys Acta Mol Basis Dis. 2017 Dec;1863(12):3294-3302. doi: 10.1016/j.bbadis.2017.09.002. Epub 2017 Sep 7. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 28888424 Free article.
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
Sass JO, Gemperle-Britschgi C, Tarailo-Graovac M, Patel N, Walter M, Jordanova A, Alfadhel M, Barić I, Çoker M, Damli-Huber A, Faqeih EA, García Segarra N, Geraghty MT, Jåtun BM, Kalkan Uçar S, Kriewitz M, Rauchenzauner M, Bilić K, Tournev I, Till C, Sayson B, Beumer D, Ye CX, Zhang LH, Vallance H, Alkuraya FS, van Karnebeek CD. Sass JO, et al. Mol Genet Metab. 2016 Sep;119(1-2):44-9. doi: 10.1016/j.ymgme.2016.07.008. Epub 2016 Jul 22. Mol Genet Metab. 2016. PMID: 27477828
163 results