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1) Howes N, Lerch MM, Greenhalf W, et al. Clinical and genetic characteristics of hereditary pancreatitis in Europe. Clin Gastroenterol Hepatol. 2004; 2: 252-61
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2) Felderbauer P, Schnekenburger J, Lebert R, et al. A novel A121T mutation in human cationic trypsinogen associated with hereditary pancreatitis: Functional data indicating a loss-of-function mutation influencing the R122 trypsin cleavage site. J Med Genet. Epub. 2008 May 29
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3) Shimosegawa T, Kume K, Masamune A. SPINK1, ADH2, and ALDH2 gene variants and alcoholic chronic pancreatitis in Japan. J Gastroenterol Hepatol. 2008; 23: S82-6
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4) Le Marechal C, Masson E, Chen JM, et al. Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis. Hum Mutat. 2004; 23: 205
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5) Kiraly O, Boulling A, Witt H, et al. Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis. Hum Mutat. 2007; 28: 469-76
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6) Masson E, Le Marechal C, Chen JM, et al. Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene. Eur J Hum Genet. 2006; 14: 1204-8
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7) Masson E, Le Marechal C, Levy P, et al. Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis. Mol Genet Metab. 2007; 92: 168-75
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8) Witt H, Apte MV, Keim V, et al. Chronic pancreatitis: challenges and advances in pathogenesis, genetics, diagnosis, and therapy. Gastroenterology. 2007; 132: 1557-73
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9) Kume K, Masamune A, Kikuta K, et al. [-215G>A; IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding site. Gut. 2006; 55: 1214
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10) Kiraly O, Wartmann T, Sahin-Toth M. Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation. Gut. 2007; 56: 1433-8
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11) Weiss FU, Simon P, Bogdanova N, et al. Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls. Gut. 2005; 54: 1456-60
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12) Witt H, Sahin-Toth M, Landt O, et al. A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis. Nat Genet. 2006; 38: 668-73
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13) Rosendahl J, Witt H, Szmola R, et al. Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis. Nat Genet. 2008; 40: 78-82
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14) Masson E, Chen JM, Scotet V, et al. Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis. Hum Genet. 2008; 123: 83-91
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15) Le Marechal C, Masson E, Chen JM, et al. Hereditary pancreatitis caused by triplication of the trypsinogen locus. Nat Genet. 2006; 38: 1372-4
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16) Masson E, Le Marechal C, Chandak GR, et al. Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis. Clin Gastroenterol Hepatol. 2008; 6: 82-8
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17) Masson E, Le Marechal C, Delcenserie R, et al. Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation. Hum Genet. 2008; 123: 521-9
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