| 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 | CFTR, PRSS1, PRSS2, SPINK1
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| Genetic aspects of pancreatitis.
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| Whitcomb DC.
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| Annu Rev Med 61:413-24. Review.PMID: 20059346 2010
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| 3 | PRSS1
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| Mortality Rate and Risk Factors in Patients With Hereditary Pancreatitis: Uni- and Multidimensional Analyses.
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| Rebours V, Boutron-Ruault MC, Jooste V, Bouvier AM, Hammel P, Ruszniewski P, Lévy P.
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| Am J Gastroenterol m J Gastroenterol. 2009 Jun 23. [Epub ahead of print]
2009
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| 4 | 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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| 5 | 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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| 6 | PRSS1, PRSS2
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| Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation.
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| Masson E, Le Marchal C, Delcenserie R, Chen JM, Frec C.
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| Hum Genet 123(5):521-9. Epub 2008 May 7. 2008
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| 7 | APC, BRCA1, BRCA2, CDH1, CDKN2A, MLH1, MSH2, MSH6, PMS2, PRSS1, PTEN, RB1, SPINK1, STK11, TP53
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| Inherited susceptibility to common cancers.
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| Foulkes WD.
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| N Engl J Med 359(20):2143-53. No abstract available.
2008
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| 8 | 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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| 9 | 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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| 10 | PRSS1
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| Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.
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| Teich N, Rosendahl J, Toth M, Mossner J, Sahin-Toth M.
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| Hum Mutat 27(8):721-30. 2006
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| 11 | 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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| 12 | PRSS1, PRSS2
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| Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl.
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| Teich N, Nemoda Z, Kohler H, Heinritz W, Mossner J, Keim V, Sahin-Toth M.
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| Hum Mutat 25(4):343-7. 2005
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| 13 | PRSS2, PRSS1
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| Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2).
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| Teich N, Le Marechal C, Kukor Z, Caca K, Witzigmann H, Chen JM, Toth M, Mossner J, Keim V, Ferec C, Sahin-Toth M.
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| Hum Mutat 23(1):22-31. 2004
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| 14 | PRSS1
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| Loss of function mutations in the cationic trypsinogen gene (PRSS1) may act as a protective factor against pancreatitis.
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| Chen JM, Le Marechal C, Lucas D, Raguenes O, Ferec C.
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| Mol Genet Metab 79(1):67-70. 2003
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| 15 | PRSS1
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| Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis.
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| Pfutzer R, Myers E, Applebaum-Shapiro S, Finch R, Ellis I, Neoptolemos J, Kant JA, Whitcomb DC.
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| Gut 50(2):271-2. 2002
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| 16 | 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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| 17 | 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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| 18 | HPG, PRSS1
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| Origin and implication of the hereditary pancreatitis-associated N21I mutation in the cationic trypsinogen gene
|
| Chen JM, Ferec C.
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| Hum Genet 106:125-126 2000
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| 19 | 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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| 20 | 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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| 21 | 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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| 22 | HPG, PRSS1
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| Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis.
|
| 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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| 23 | HPG, PRSS1
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| Hereditary pancreatitis is caused by a mutation in the cationic trypsinogene gene.
|
| Whitcomb DC, et al.
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| Nat Genet 14 : 141-145. 1996
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| 24 | PRSS1, PRSS2, PRSS3, PRSS3P2, TRB@, TRBC2, TRBD1, TRBD2, TRBJ1-1, TRBJ1-2, TRBJ1-3, TRBJ1-4, TRBJ1-5, TRBJ1-6, TRBJ2-1, TRBJ2-2, TRBJ2-2P, TRBJ2-3, TRBJ2-4, TRBJ2-5, TRBJ2-6, TRBJ2-7, TRBJ@, TRBV1, TRBV10-1, TRBV10-2, TRBV10-3, TRBV11-1, TRBV11-2, TRBV11-3, TRBV12-1, TRBV12-2, TRBV12-3, TRBV12-4, TRBV12-5, TRBV13, TRBV14, TRBV15, TRBV16, TRBV17, TRBV18, TRBV19, TRBV2, TRBV20-1, TRBV21-1, TRBV22, TRBV22, TRBV23-1, TRBV24-1, TRBV25-1, TRBV26, TRBV27, TRBV28, TRBV29-1, TRBV3-1, TRBV3-2, TRBV30, TRBV4-1, TRBV4-2, TRBV4-3, TRBV5-1, TRBV5-2, TRBV5-3, TRBV5-4, TRBV5-5, TRBV5-6, TRBV5-7, TRBV5-8, TRBV6-1, TRBV6-2, TRBV6-3, TRBV6-4, TRBV6-5, TRBV6-6, TRBV6-7, TRBV6-8, TRBV6-9, TRBV7-1, TRBV7-2, TRBV7-4, TRBV7-5, TRBV7-6, TRBV7-7, TRBV7-8, TRBV7-9, TRBV8-1, TRBV8-2, TRBV9, TRBV@, TRBVA, TRBVB, TRY7
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| The complete 685-kilobase DNA sequence of the human beta T cell receptor locus.
|
| Rowen L, Koop BF, Hood L.
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| Science 272(5269):1755-62. 1996
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| 25 | PRSS1
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| solation of a cDNA encoding a human serum marker for acute pancreatitis. Identification of pancreas-specific protein as pancreatic procarboxypeptidase B.
|
| Yamamoto KK, Pousette A, Chow P, Wilson H, el Shami S, French CK.
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| J Biol Chem 267(4):2575-81.
1992
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| 26 | COL1A2, CPA1, MET, PRSS1
|
| Regional localization of probes on human chromosome 7q.
|
| Naylor SL, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 669. 1987
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| 27 | PRSS1
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| Cloning, characterization and nucleotide sequences of two cDNAs encoding human pancreatic trypsinogens.
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| Emi M, et al.
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| Gene 41 : 305-310. 1986
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| 28 | ELA1, CPA1, PRSS1
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| Assignment of the human genes for elastase to chromosome 12 and for trypsin and carboxypeptidase A to chromosome 7.
|
| Honey NK, et al.
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| (HGM7) Cytogenet Cell Genet 37 : 492. 1984
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| 29 | PRSS1
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| Trypsinogen deficiency disease.
|
| Townes PL.
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| J Pediatr 66 : 275-285. 1965
|