-
1
-
-
10144246566
-
Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene
-
DOI 10.1038/ng1096-141
-
Whitcomb DC, Gorry MC, Preston RA, et al. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet 1996;14 141-5. (Pubitemid 26338792)
-
(1996)
Nature Genetics
, vol.14
, Issue.2
, pp. 141-145
-
-
Whitcomb, D.C.1
Gorry, M.C.2
Preston, R.A.3
Furey, W.4
Sossenheimer, M.J.5
Ulrich, C.D.6
Martin, S.P.7
Gates Jr., L.K.8
Amann, S.T.9
Toskes, P.P.10
Liddle, R.11
McGrath, K.12
Uomo, G.13
Post, J.C.14
Ehrlich, G.D.15
-
2
-
-
10744233747
-
Clinical and genetic characteristics of hereditary pancreatitis in Europe
-
DOI 10.1016/S1542-3565(04)00013-8, PII S1542356504000138
-
Howes N, Lerch MM, Greenhalf W, et al. Clinical and genetic characteristics of hereditary pancreatitis in Europe. Clin Gastroenterol Hepatol 2004;2 252-61. (Pubitemid 38293313)
-
(2004)
Clinical Gastroenterology and Hepatology
, vol.2
, Issue.3
, pp. 252-261
-
-
Howes, N.1
Lerch, M.M.2
Greenhalf, W.3
Stocken, D.D.4
Ellis, I.5
Simon, P.6
Truninger, K.7
Ammann, R.8
Cavallini, G.9
Charnley, R.M.10
Uomo, G.11
Delhaye, M.12
Spicak, J.13
Drumm, B.14
Jansen, J.15
Mountford, R.16
Whitcomb, D.C.17
Neoptolemos, J.P.18
-
3
-
-
33747010658
-
Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis
-
DOI 10.1002/humu.20343
-
Teich N, Rosendahl J, Tóth M, et al. Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis. Hum Mutat 2006;27 721-30. (Pubitemid 44205064)
-
(2006)
Human Mutation
, vol.27
, Issue.8
, pp. 721-730
-
-
Teich, N.1
Rosendahl, J.2
Toth, M.3
Mossner, J.4
Sahin-Toth, M.5
-
4
-
-
58249089866
-
The natural history of hereditary pancreatitis: A national series
-
Rebours V, Boutron-Ruault MC, Schnee M, et al. The natural history of hereditary pancreatitis: a national series. Gut 2009;58 97-103.
-
(2009)
Gut
, vol.58
, pp. 97-103
-
-
Rebours, V.1
Boutron-Ruault, M.C.2
Schnee, M.3
-
5
-
-
77953699769
-
Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations
-
Szmola R, Sahin-Tóth M. Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis- associated mutations. J Med Genet 2010;47 348-50.
-
(2010)
J Med Genet
, vol.47
, pp. 348-350
-
-
Szmola, R.1
Sahin-Tóth, M.2
-
6
-
-
84862017112
-
Increased activation of hereditary pancreatitis-associated human cationic trypsinogen mutants in presence of chymotrypsin C
-
Szabó A, Sahin-Tóth M. Increased activation of hereditary pancreatitis-associated human cationic trypsinogen mutants in presence of chymotrypsin C. J Biol Chem 2012;287 20701-10.
-
(2012)
J Biol Chem
, vol.287
, pp. 20701-20710
-
-
Szabó, A.1
Sahin-Tóth, M.2
-
7
-
-
33744960876
-
Chymotrypsin C (caldecrin) stimulates autoactivation of human cationic trypsinogen
-
DOI 10.1074/jbc.M600124200
-
Nemoda Z, Sahin-Tóth M. Chymotrypsin C (caldecrin) stimulates autoactivation of human cationic trypsinogen. J Biol Chem 2006;281 11879-86. (Pubitemid 43855449)
-
(2006)
Journal of Biological Chemistry
, vol.281
, Issue.17
, pp. 11879-11886
-
-
Nemoda, Z.1
Sahin-Toth, M.2
-
9
-
-
63749109353
-
Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: A novel disease mechanism
-
Kereszturi E, Szmola R, Kukor Z, et al. Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism. Hum Mutat 2009;30 575-82.
-
(2009)
Hum Mutat
, vol.30
, pp. 575-582
-
-
Kereszturi, E.1
Szmola, R.2
Kukor, Z.3
-
10
-
-
33646884384
-
Expression of human cationic trypsinogen with an authentic N terminus using intein-mediated splicing in aminopeptidase P deficient Escherichia coli
-
DOI 10.1016/j.pep.2006.01.023, PII S1046592806000404
-
Király O, Guan L, Szepessy E, et al. Expression of human cationic trypsinogen with an authentic N terminus using intein-mediated splicing in aminopeptidase P deficient Escherichia coli. Protein Expr Purif 2006;48 104-11. (Pubitemid 43782629)
-
(2006)
Protein Expression and Purification
, vol.48
, Issue.1
, pp. 104-111
-
-
Kiraly, O.1
Guan, L.2
Szepessy, E.3
Toth, M.4
Kukor, Z.5
Sahin-Toth, M.6
-
11
-
-
79952471865
-
Expression of recombinant proteins with uniform N-termini
-
Király O, Guan L, Sahin-Tóth M. Expression of recombinant proteins with uniform N-termini. Methods Mol Biol 2011;705 175-94.
-
(2011)
Methods Mol Biol
, vol.705
, pp. 175-194
-
-
Király, O.1
Guan, L.2
Sahin-Tóth, M.3
-
12
-
-
84885611335
-
Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk
-
Beer S, Zhou J, Szabó A, et al. Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk. Gut 2013;62 1616-24.
-
(2013)
Gut
, vol.62
, pp. 1616-1624
-
-
Beer, S.1
Zhou, J.2
Szabó, A.3
-
13
-
-
79959353475
-
High affinity small protein inhibitors of human chymotrypsin C (CTRC) selected by phage display reveal unusual preference for P4' acidic residues
-
Szabó A, Héja D, Szakács D, et al. High affinity small protein inhibitors of human chymotrypsin C (CTRC) selected by phage display reveal unusual preference for P4' acidic residues. J Biol Chem 2011;286 22535-45.
-
(2011)
J Biol Chem
, vol.286
, pp. 22535-22545
-
-
Szabó, A.1
Héja, D.2
Szakács, D.3
-
14
-
-
0035093636
-
Mutational screening of the cationic trypsinogen gene in a large cohort of subjects with idiopathic chronic pancreatitis
-
DOI 10.1034/j.1399-0004.2001.590308.x
-
Chen JM, Bis A Piepoli, LeBodic L, 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. (Pubitemid 32229775)
-
(2001)
Clinical Genetics
, vol.59
, Issue.3
, pp. 189-193
-
-
Chen, J.1
Piepoli Bis, A.2
Le Bodic, L.3
Ruszniewski, P.4
Robaszkiewicz, M.5
Deprez, P.6
Raguenes, O.7
Quere, I.8
Andriulli, A.9
Ferec, C.10
-
15
-
-
0036177587
-
Mutational screening of patients with nonalcoholic chronic pancreatitis: Identification of further trypsinogen variants
-
DOI 10.1016/S0002-9270(01)04029-1, PII S0002927001040291
-
Teich N, Bauer N, Mössner J, et al. Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants. Am J Gastroenterol 2002;97 341-6. (Pubitemid 34160759)
-
(2002)
American Journal of Gastroenterology
, vol.97
, Issue.2
, pp. 341-346
-
-
Teich, N.1
Bauer, N.2
Mossner, J.3
Keim, V.4
-
16
-
-
66749185407
-
Association and differential role of PRSS1 and SPINK1 mutation in early-onset and late-onset idiopathic chronic pancreatitis in Chinese subjects
-
Chang YT, Wei SCm L P-C, et al. Association and differential role of PRSS1 and SPINK1 mutation in early-onset and late-onset idiopathic chronic pancreatitis in Chinese subjects. Gut 2009;58 885.
-
(2009)
Gut
, vol.58
, pp. 885
-
-
Chang, Y.T.1
Wei, S.Cm.L.P.-C.2
-
17
-
-
79960090311
-
Novel mutations of PRSS1 gene in patients with pancreatic cancer among Han population
-
Zeng K, Liu QC, Lin JH, et al. Novel mutations of PRSS1 gene in patients with pancreatic cancer among Han population. Chin Med J (Engl) 2011;124 2065-7.
-
(2011)
Chin Med J (Engl)
, vol.124
, pp. 2065-2067
-
-
Zeng, K.1
Liu, Q.C.2
Lin, J.H.3
-
18
-
-
79953833240
-
High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitis
-
Lee YJ, Kim KM, Choi JH, et al. High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitis. J Pediatr Gastroenterol Nutr 2011;52 478-81.
-
(2011)
J Pediatr Gastroenterol Nutr
, vol.52
, pp. 478-481
-
-
Lee, Y.J.1
Kim, K.M.2
Choi, J.H.3
-
19
-
-
77749318543
-
Pancreatitis-associated chymotrypsinogen C (CTRC) mutant elicits endoplasmic reticulum stress in pancreatic acinar cells
-
Szmola R, Sahin-Tóth M. Pancreatitis-associated chymotrypsinogen C (CTRC) mutant elicits endoplasmic reticulum stress in pancreatic acinar cells. Gut 2010;59 365-72.
-
(2010)
Gut
, vol.59
, pp. 365-372
-
-
Szmola, R.1
Sahin-Tóth, M.2
-
20
-
-
33751546259
-
Hereditary pancreatitis caused by triplication of the trypsinogen locus
-
DOI 10.1038/ng1904, PII NG1904
-
Le Maréchal C, Masson E, Chen JM, et al. Hereditary pancreatitis caused by triplication of the trypsinogen locus. Nat Genet 2006;38 1372-4. (Pubitemid 44837557)
-
(2006)
Nature Genetics
, vol.38
, Issue.12
, pp. 1372-1374
-
-
Le Marechal, C.1
Masson, E.2
Chen, J.-M.3
Morel, F.4
Ruszniewski, P.5
Levy, P.6
Ferec, C.7
-
21
-
-
37449032206
-
Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis
-
Masson E, Le Maréchal C, Chandak GR, etal. Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis. Clin Gastroenterol Hepatol 2008;6 82-8.
-
(2008)
Clin Gastroenterol Hepatol
, vol.6
, pp. 82-88
-
-
Masson, E.1
Le Maréchal, C.2
Chandak, G.R.3
-
22
-
-
84870511045
-
Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis
-
Whitcomb DC, Larusch J, Krasinskas AM, et al. Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. Nat Genet 2012;44 1349-54.
-
(2012)
Nat Genet
, vol.44
, pp. 1349-1354
-
-
Whitcomb, D.C.1
Larusch, J.2
Krasinskas, A.M.3
-
23
-
-
33749143421
-
Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis
-
DOI 10.1097/01.mpa.0000232014.94974.75, PII 0000667620061000000002
-
Keiles S, Kammesheidt A. Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis. Pancreas 2006;33 221-7. (Pubitemid 44470135)
-
(2006)
Pancreas
, vol.33
, Issue.3
, pp. 221-227
-
-
Keiles, S.1
Kammesheidt, A.2
-
24
-
-
0035714189
-
R116C mutation of cationic trypsinogen in a Turkish family with recurrent pancreatitis illustrates genetic microheterogeneity of hereditary pancreatitis
-
DOI 10.1159/000048866
-
Tautermann G, Ruebsamen H, Beck M, etal. R116C mutation of cationic trypsinogen in a Turkish family with recurrent pancreatitis illustrates genetic microheterogeneity of hereditary pancreatitis. Digestion 2001;64 226-32. (Pubitemid 34158329)
-
(2001)
Digestion
, vol.64
, Issue.4
, pp. 226-232
-
-
Tautermann, G.1
Ruebsamen, H.2
Beck, M.3
Dertinger, S.4
Drexel, H.5
Lohse, P.6
-
25
-
-
84874659320
-
CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: Is the role of mutated CFTR overestimated?
-
Rosendahl J, Landt O, Bernadova J, etal. CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated? Gut 2013;62 582-92.
-
(2013)
Gut
, vol.62
, pp. 582-592
-
-
Rosendahl, J.1
Landt, O.2
Bernadova, J.3
-
26
-
-
84859984486
-
Genetic prevalence and characteristics in children with recurrent pancreatitis
-
Sultan M, Werlin S, Venkatasubramani N. Genetic prevalence and characteristics in children with recurrent pancreatitis. J Pediatr Gastroenterol Nutr 2012;54 645-50.
-
(2012)
J Pediatr Gastroenterol Nutr
, vol.54
, pp. 645-650
-
-
Sultan, M.1
Werlin, S.2
Venkatasubramani, N.3
-
27
-
-
77957921193
-
New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis?
-
Corleto VD, Gambardella S, Gullotta F, et al. New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis? BMC Gastroenterol 2010;10 119.
-
(2010)
BMC Gastroenterol
, vol.10
, pp. 119
-
-
Corleto, V.D.1
Gambardella, S.2
Gullotta, F.3
|