References
- Comfort MW, Steinberg AG. Pedigree of a family with hereditary chronic relapsing pancreatitis. Gastroenterology 1952; 21: 54–63
- Keim V. Genetics of pancreatitis. Scand J Surg 2005; 94: 103–7
- Whitcomb DC, Preston RA, Aston CE, Sossenheimer MJ, Barua PS, Zhang Y, et al. A gene for hereditary pancreatitis maps to chromosome 7Q35. Gastroenterology 1996; 110: 1975–80
- Pandya A, Blanton SH, Landa B, Javaheri R, Melvin E, Nance WE, et al. Linkage studies in a large kindred with hereditary pancreatitis confirms mapping of the gene to a 16-cM region on 7q. Genomics 1996; 38: 227–30
- Whitcomb DC, Gorry MC, Preston RA, Furey W, Sossenheimer MJ, Ulrich CD, et al. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet 1996; 14: 141–5
- Gorry MC, Gabbaizedeh D, Furey W, Gates LKJr, Preston RA, Aston CE, et al. Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. Gastroenterology 1997; 113: 1063–8
- Otsui M, Nishimori I, Hayakawa T, Hirota M, Ogawa M, Shimosegawa T. Hereditary pancreatitis: clinical characteristics and diagnostic criteria in Japan. Pancreas 2004; 28: 200–6
- Witt H, Luck W, Becker M. A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis. Gastroenterology 1999; 117: 7–10
- Howes N, Lerch MM, Greenhalf W, Stocken DD, Ellis I, Simon P, et al. Clinical and genetic characteristics of hereditary pancreatitis in Europe. Clin Gastroenterol Hepatol 2004; 2: 252–61
- Pfützer R, Myers E, Applebaum-Shapiro S, Finch R, Ellis I, Neoptolemos J, et al. Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal hereditary pancreatitis. Gut 2002; 50: 271–2
- Teich N, Ockenga J, Hoffmeister A, Manns M, Mossner J, Keim V. Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin. Gastroenterology 2000; 199: 461–5
- Chen JM, Piepoli Bis A, Le Bodic L, Ruszniewski P, Robaszkiewics M, Deprez PH, et al. Mutational screening of the cationic trypsinogen gene in a large cohort of subjects with idiopathic chronic pancreatitis. Clin Genet 2001; 59: 189–93
- Lerch MM, Saluja AK, Dawra R, Ramarao P, Saluja M, Steer ML. Acute necrotizing pancreatitis in the opossum: earliest morphological changes involve acinar cells. Gastroenterology 1992; 103: 205–13
- Witt H, Luck W, Hennies HC, Classen M, Kage A, Lass U, et al. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet 2000; 25: 213–6
- Pfützer RH, Barmada MM, Brunskill AP, Finch R, Hart PS, Neoptolemos J, et al. SPINK1/PSTI1 polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis. Gastroenterology 2000; 119: 615–23
- Chandak GR, Idris MM, Reddy DN, Mani KR, Bhaskar S, Rao GV, et al. Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis. Gut 2004; 53: 723–8
- Bhatia E, Choudhuri G, Sikora SS, Landt O, Kage A, Becker M, et al. Tropical calcific pancreatitis: strong association with SPINK trypsin inhibitor mutations. Gastroenterology 2002; 123: 1020–5
- Drenth JP, te Morsche R, Jansen JB. Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis. Gut 2002; 50: 687–92
- Tukiainen E, Kylänpää ML, Kemppainen E, Nevanlinna H, Paju A, Repo H, et al. Pancreatic secretory trypsin inhibitor (SPINK1) gene mutations in patients with acute pancreatitis. Pancreas 2005; 30: 239–42
- Witt H, Luck W, Becker M, Bohmig M, Kage A, Truninger K, et al. Mutation in the SPINK1 trypsin inhibitor gene, alcohol use, and chronic pancreatitis. JAMA 2001; 285: 2716–7
- Threadgold J, Greenhalf W, Ellis I, Howes N, Lerch MM, Simon P, et al. The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease. Gut 2002; 50: 675–81
- Amann ST, Gates LK, Aston CE, Pandya A, Whitcomb DC. Expression and penetrance of the hereditary pancreatitis phenotype in monozycotic twins. Gut 2001; 8: 542–7
- Teich N, Mossner J, Keim V. Screening for mutations of the cationic trypsinogen gene: are they of relevance in chronic alcoholic pancreatitis. Gut 1999; 44: 413–6
- Witt H, Luck W, Hennies HC, Classen M, Kage A, Lass U, et al. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet 2000; 25: 213–6
- Peltonen L, Jalanko A, Varilo T. Molecular genetics of the Finnish disease heritage. Hum Mol Gen 1999; 8: 19913–23
- Kukor Z, Toth M, Pal G, Sahin-Toth M. Human cationic trypsinogen. Arg(117) is the reactive site of an inhibitory surface loop that controls spontaneous zymogen activation. J Biol Chem 2002; 277: 6111–7
- Sahin-Toth M. Human cationic trypsinogen. Role of Asn-21 in zymogen activation and implications in hereditary pancreatitis. J Biol Chem 2000; 275: 22750–5
- Chen JM, Kukor Z, Le Marechal C, Toth M, Tsakiris L, Raguenes O, et al. Evolution of trypsinogen activation peptides. Mol Biol Evol 2003; 20: 1767–77
- Keim V, Witt H, Bauer N, Bodeker H, Rosendahl J, Teich N, et al. The course of genetically determined chronic pancreatitis. J Oral Pathol 2003; 4: 146–54
- Teich N, Le Marechal C, Kukor Z, Caca K, Witzigmann H, Chen JM, et al. Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2). Hum Mutat 2004; 23: 22–31
- Simon P, Weiss FU, Sahin-Toth M, Parry M, Nayler O, Lenfers B, et al. Hereditary pancreatitis caused by a novel PRSS1 mutation (Arg-122→Cys) that alters autoactivation and autodegradation of cationic trypsinogen. J Biol Chem 2002; 277: 5404–10