| 1 | HPG, PRSS1
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| Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations.
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| Szmola R, Sahin-Tóth M.
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| J Med Genet 47(5):348-50.PMID: 20452997 2010
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| 2 | HPG, PRSS1
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| Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism.
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| Kereszturi E, Szmola R, Kukor Z, Simon P, Weiss FU, Lerch MM, Sahin-Tóth M.
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| Hum Mutat 30(4):575-82.
2009
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| 3 | HPG, PRSS1
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| The natural history of hereditary pancreatitis: A national series.
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| Rebours V, Boutron-Ruault MC, Schnee M, Férec C, Le Maréchal C, Hentic O, Maire F, Hammel P, Ruszniewski P, Lévy P.
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| Gut ut. 2008 Aug 28. [Epub ahead of print]
2008
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| 4 | HPG, PRSS1
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| 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.
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| Felderbauer P, Schnekenburger J, Lebert R, Bulut K, Parry M, Meister T, Schick V, Schmitz F, Domschke W, Schmidt WE.
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| J Med Genet 45(8):507-12. Epub 2008 May 29.
2008
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| 5 | CFTR, HPG, PRSS1, PRSS2, SPINK1
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| Hereditary chronic pancreatitis.
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| Rosendahl J, Bödeker H, Mössner J, Teich N.
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| Orphanet J Rare Dis 2:1. Review. 2007
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| 6 | PRSS1, HPG
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| Hereditary pancreatitis caused by triplication of the trypsinogen locus.
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| Le Marechal C, Masson E, Chen JM, Morel F, Ruszniewski P, Levy P, Ferec C.
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| Nat Genet 38(12):1372-1374. Epub 2006 Oct 29. 2006
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| 7 | HPG
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| Hereditary pancreatitis caused by a novel PRSS1 mutation (Arg-122 --> Cys) that alters autoactivation and autodegradation of cationic trypsinogen.
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| Simon P, Weiss FU, Sahin-Toth M, Parry M, Nayler O, Lenfers B, Schnekenburger J, Mayerle J, Domschke W, Lerch MM.
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| J Biol Chem 277(7):5404-10. Epub 2001 Nov 21. 2002
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| 8 | HPG, PRSS1
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| Mutational screening of the cationic trypsinogen gene in a large cohort of subjects with idiopathic chronic pancreatitis.
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| Chen JM, Piepoli Bis A, Le Bodic L, Ruszniewski P, Robaszkiewicz M, Deprez PH, Raguenes O, Quere I, Andriulli A, Ferec C.
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| Clin Genet 59(3):189-93. 2001
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| 9 | HPG, PRSS1
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| Identification of a novel pancreatitis-associated missense mutation, R116C, in the human cationic trypsinogen gene (PRSS1).
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| Le Marechal C, Bretagne JF, Raguenes O, Quere I, Chen JM, Ferec C.
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| Mol Genet Metab 74(3):342-4. 2001
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| 10 | HPG, PRSS1
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| Origin and implication of the hereditary pancreatitis-associated N21I mutation in the cationic trypsinogen gene
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| Chen JM, Ferec C.
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| Hum Genet 106:125-126 2000
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| 11 | HPG
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| Molecular basis of hereditary pancreatitis.
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| Chen JM, Ferec C.
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| Eur J Hum Genet 8(7):473-9. 2000
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| 12 | HPG, PRSS1
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| Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis.
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| Frec C, et al.
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| J Med Genet 36 : 228-232. 1999
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| 13 | HPG, PRSS1
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| Mutations in exons 2 and 3 of the cationic trypsinogen gene in japanese families with hereditary pancreatitis.
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| Nishimori I, et al.
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| Gut 44(2):259-63. 1999
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| 14 | HPG
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| Trypsinogen stabilization by mutation Arg117-->His: a unifying pathomechanism for hereditary pancreatitis?
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| Sahin-Toth M, Graf L, Toth M.
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| Biochem Biophys Res Commun 264(2):505-8 1999
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| 15 | HPG, PRSS1
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| Mutations of the cationic thypsinogen in hereditary pancreatitis.
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| Teich N, et al.
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| Hum Mutat 12 : 39-43. 1998
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| 16 | HPG, PRSS1
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| Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis.
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| Gorry MC, Gabbaizedeh D, Furey W, Gates LK Jr, Preston RA, Aston CE, Zhang Y, Ulrich C, Ehrlich GD, Whitcomb DC.
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| Gastroenterology 113(4):1063-8. 1997
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| 17 | HPG
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| The hereditary pancreatitis gene maps to long arm of chromosome 7.
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| Le Bodic L, et al.
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| Hum Mol Genet 5 : 549-554. 1996
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| 18 | HPG
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| A gene for hereditary pancreatitis maps to chromosome 7q35.
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| Whitcomb DC, et al.
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| Gastroenterology 110 : 1975-1980. 1996
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| 19 | HPG, PRSS1
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| Hereditary pancreatitis is caused by a mutation in the cationic trypsinogene gene.
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| Whitcomb DC, et al.
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| Nat Genet 14 : 141-145. 1996
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| 20 | HPG
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| Linkage studies in a large kindred with hereditary pancreatitis confirms mapping of the gene to a 16-cM region on 7q.
|
| Pandya A, et al.
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| Genomics 38 : 227-230. 1996
|