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A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults.
Gotthardt D, Runz H, Keitel V, Fischer C, Flechtenmacher C, Wirtenberger M, Weiss KH, Imparato S, Braun A, Hemminki K, Stremmel W, Rüschendorf F, Stiehl A, Kubitz R, Burwinkel B, Schirmacher P, Knisely AS, Zschocke J, Sauer P. Gotthardt D, et al. Among authors: zschocke j. Hepatology. 2008 Oct;48(4):1157-66. doi: 10.1002/hep.22485. Hepatology. 2008. PMID: 18781607
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
Rauschenberger K, Schöler K, Sass JO, Sauer S, Djuric Z, Rumig C, Wolf NI, Okun JG, Kölker S, Schwarz H, Fischer C, Grziwa B, Runz H, Nümann A, Shafqat N, Kavanagh KL, Hämmerling G, Wanders RJ, Shield JP, Wendel U, Stern D, Nawroth P, Hoffmann GF, Bartram CR, Arnold B, Bierhaus A, Oppermann U, Steinbeisser H, Zschocke J. Rauschenberger K, et al. Among authors: zschocke j. EMBO Mol Med. 2010 Feb;2(2):51-62. doi: 10.1002/emmm.200900055. EMBO Mol Med. 2010. PMID: 20077426 Free PMC article.
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.
Haas D, Morgenthaler J, Lacbawan F, Long B, Runz H, Garbade SF, Zschocke J, Kelley RI, Okun JG, Hoffmann GF, Muenke M. Haas D, et al. Among authors: zschocke j. J Med Genet. 2007 May;44(5):298-305. doi: 10.1136/jmg.2006.047258. Epub 2007 Jan 19. J Med Genet. 2007. PMID: 17237122 Free PMC article.
Molecular neonatal screening for homocystinuria in the Qatari population.
Zschocke J, Kebbewar M, Gan-Schreier H, Fischer C, Fang-Hoffmann J, Wilrich J, Abdoh G, Ben-Omran T, Shahbek N, Lindner M, Al Rifai H, Al Khal AL, Hoffmann GF. Zschocke J, et al. Hum Mutat. 2009 Jun;30(6):1021-2. doi: 10.1002/humu.20994. Hum Mutat. 2009. PMID: 19370759
Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.
Opladen T, Ebinger F, Zschocke J, Sengupta D, Ben-Omran T, Shahbeck N, Moog U, Fischer C, Bürger F, Haas D, Ruef P, Harting I, Al-Rifai H, Hoffmann GF. Opladen T, et al. Among authors: zschocke j. J Child Neurol. 2014 Jan;29(1):36-42. doi: 10.1177/0883073812469049. Epub 2012 Dec 26. J Child Neurol. 2014. PMID: 23271757
Carnosine as a protective factor in diabetic nephropathy: association with a leucine repeat of the carnosinase gene CNDP1.
Janssen B, Hohenadel D, Brinkkoetter P, Peters V, Rind N, Fischer C, Rychlik I, Cerna M, Romzova M, de Heer E, Baelde H, Bakker SJ, Zirie M, Rondeau E, Mathieson P, Saleem MA, Meyer J, Köppel H, Sauerhoefer S, Bartram CR, Nawroth P, Hammes HP, Yard BA, Zschocke J, van der Woude FJ. Janssen B, et al. Among authors: zschocke j. Diabetes. 2005 Aug;54(8):2320-7. doi: 10.2337/diabetes.54.8.2320. Diabetes. 2005. PMID: 16046297
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.
Schossig A, Wolf NI, Fischer C, Fischer M, Stocker G, Pabinger S, Dander A, Steiner B, Tönz O, Kotzot D, Haberlandt E, Amberger A, Burwinkel B, Wimmer K, Fauth C, Grond-Ginsbach C, Koch MJ, Deichmann A, von Kalle C, Bartram CR, Kohlschütter A, Trajanoski Z, Zschocke J. Schossig A, et al. Among authors: zschocke j. Am J Hum Genet. 2012 Apr 6;90(4):701-7. doi: 10.1016/j.ajhg.2012.02.012. Epub 2012 Mar 15. Am J Hum Genet. 2012. PMID: 22424600 Free PMC article.
335 results