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Keratin 8 Y54H and G62C mutations are not associated with liver disease.
Halangk J, Berg T, Puhl G, Mueller T, Nickel R, Kage A, Landt O, Luck W, Wiedenmann B, Neuhaus P, Witt H. Halangk J, et al. Among authors: wiedenmann b. J Med Genet. 2004 Jul;41(7):e92. doi: 10.1136/jmg.2003.011650. J Med Genet. 2004. PMID: 15235035 Free PMC article. No abstract available.
Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.
Rosendahl J, Witt H, Szmola R, Bhatia E, Ozsvári B, Landt O, Schulz HU, Gress TM, Pfützer R, Löhr M, Kovacs P, Blüher M, Stumvoll M, Choudhuri G, Hegyi P, te Morsche RH, Drenth JP, Truninger K, Macek M Jr, Puhl G, Witt U, Schmidt H, Büning C, Ockenga J, Kage A, Groneberg DA, Nickel R, Berg T, Wiedenmann B, Bödeker H, Keim V, Mössner J, Teich N, Sahin-Tóth M. Rosendahl J, et al. Among authors: wiedenmann b. Nat Genet. 2008 Jan;40(1):78-82. doi: 10.1038/ng.2007.44. Epub 2007 Dec 2. Nat Genet. 2008. PMID: 18059268 Free PMC article.
Evaluation of complement factor 5 variants as genetic risk factors for the development of advanced fibrosis in chronic hepatitis C infection.
Halangk J, Sarrazin C, Neumann K, Puhl G, Mueller T, Teuber G, Klinker H, Hinrichsen H, Buggisch P, Landt O, Weich V, Bergk A, Wiedenmann B, Neuhaus P, Berg T, Witt H. Halangk J, et al. Among authors: wiedenmann b. J Hepatol. 2008 Sep;49(3):339-45. doi: 10.1016/j.jhep.2008.05.021. Epub 2008 Jun 23. J Hepatol. 2008. PMID: 18644651
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis.
Witt H, Sahin-Tóth M, Landt O, Chen JM, Kähne T, Drenth JP, Kukor Z, Szepessy E, Halangk W, Dahm S, Rohde K, Schulz HU, Le Maréchal C, Akar N, Ammann RW, Truninger K, Bargetzi M, Bhatia E, Castellani C, Cavestro GM, Cerny M, Destro-Bisol G, Spedini G, Eiberg H, Jansen JB, Koudova M, Rausova E, Macek M Jr, Malats N, Real FX, Menzel HJ, Moral P, Galavotti R, Pignatti PF, Rickards O, Spicak J, Zarnescu NO, Böck W, Gress TM, Friess H, Ockenga J, Schmidt H, Pfützer R, Löhr M, Simon P, Weiss FU, Lerch MM, Teich N, Keim V, Berg T, Wiedenmann B, Luck W, Groneberg DA, Becker M, Keil T, Kage A, Bernardova J, Braun M, Güldner C, Halangk J, Rosendahl J, Witt U, Treiber M, Nickel R, Férec C. Witt H, et al. Among authors: wiedenmann b. Nat Genet. 2006 Jun;38(6):668-73. doi: 10.1038/ng1797. Epub 2006 May 14. Nat Genet. 2006. PMID: 16699518 Free PMC article.
521 results