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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: gress tm. Nat Genet. 2006 Jun;38(6):668-73. doi: 10.1038/ng1797. Epub 2006 May 14. Nat Genet. 2006. PMID: 16699518 Free PMC article.
The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease.
Threadgold J, Greenhalf W, Ellis I, Howes N, Lerch MM, Simon P, Jansen J, Charnley R, Laugier R, Frulloni L, Oláh A, Delhaye M, Ihse I, Schaffalitzky de Muckadell OB, Andrén-Sandberg A, Imrie CW, Martinek J, Gress TM, Mountford R, Whitcomb D, Neoptolemos JP. Threadgold J, et al. Among authors: gress tm. Gut. 2002 May;50(5):675-81. doi: 10.1136/gut.50.5.675. Gut. 2002. PMID: 11950815 Free PMC article.
Keratin 8 sequence variants in patients with pancreatitis and pancreatic cancer.
Treiber M, Schulz HU, Landt O, Drenth JP, Castellani C, Real FX, Akar N, Ammann RW, Bargetzi M, Bhatia E, Demaine AG, Battagia C, Kingsnorth A, O'Reilly D, Truninger K, Koudova M, Spicak J, Cerny M, Menzel HJ, Moral P, Pignatti PF, Romanelli MG, Rickards O, De Stefano GF, Zarnescu NO, Choudhuri G, Sikora SS, Jansen JB, Weiss FU, Pietschmann M, Teich N, Gress TM, Ockenga J, Schmidt H, Kage A, Halangk J, Rosendahl J, Groneberg DA, Nickel R, Witt H. Treiber M, et al. Among authors: gress tm. J Mol Med (Berl). 2006 Dec;84(12):1015-22. doi: 10.1007/s00109-006-0096-7. Epub 2006 Oct 13. J Mol Med (Berl). 2006. PMID: 17039343 Free article.
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: gress tm. 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.
258 results