PMC Links for OMIM (Select 276000) - PMC

Select item 69342241.

Trypsin activity governs increased susceptibility to pancreatitis in mice expressing human PRSS1^R122H

Fu Gui, Yuebo Zhang, Jianhua Wan, Xianbao Zhan, Yao Yao, Yinghua Li, Ashley N. Haddock, Ji Shi, Jia Guo, Jiaxiang Chen, Xiaohui Zhu, Brandy H. Edenfield, Lu Zhuang, Cheng Hu, Ying Wang, Debabrata Mukhopadhyay, Evette S. Radisky, Lizhi Zhang, Aurelia Lugea, Stephen J. Pandol, Yan Bi, Baoan Ji

J Clin Invest. 2020 Jan 2; 130(1): 189–202. Published online 2019 Nov 18. doi: 10.1172/JCI130172

PMCID:: PMC6934224

Abstract Article PDF–17M

Select item 29308402.

Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations

Richárd Szmola, Miklós Sahin-Tóth

J Med Genet. Author manuscript; available in PMC 2011 May 1.

Published in final edited form as: J Med Genet. 2010 May; 47(5): 348–350. doi: 10.1136/jmg.2009.072751

PMCID:: PMC2930840

Abstract Article PDF–47K

Select item 27931153.

Mutations of Human Cationic Trypsinogen (PRSS1) and Chronic Pancreatitis

Niels Teich, Jonas Rosendahl, Miklós Tóth, Joachim Mössner, Miklós Sahin-Tóth

Hum Mutat. Author manuscript; available in PMC 2009 Dec 14.

Published in final edited form as: Hum Mutat. 2006 Aug; 27(8): 721–730. doi: 10.1002/humu.20343

PMCID:: PMC2793115

Abstract Article PDF–211K

Select item 27523324.

Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl

Niels Teich, Zsófia Nemoda, Henrik Köhler, Wolfram Heinritz, Joachim Mössner, Volker Keim, Miklós Sahin-Tóth

Hum Mutat. Author manuscript; available in PMC 2009 Sep 25.

Published in final edited form as: Hum Mutat. 2005 Apr; 25(4): 343–347. doi: 10.1002/humu.20148

PMCID:: PMC2752332

Abstract Article PDF–785K

Select item 26630135.

Hereditary pancreatitis caused by mutation induced misfolding of human cationic trypsinogen - a novel disease mechanism

Éva Kereszturi, Richárd Szmola, Zoltán Kukor, Peter Simon, Frank Ulrich Weiss, Markus M. Lerch, Miklós Sahin-Tóth

Hum Mutat. Author manuscript; available in PMC 2010 Apr 1.

Published in final edited form as: Hum Mutat. 2009 Apr; 30(4): 575–582. doi: 10.1002/humu.20853

PMCID:: PMC2663013

Abstract Article PDF–547K

Select item 17344836.

A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis

J. CHEN, O. RAGUENES, C. FEREC, P. DEPREZ, C. VERELLEN-DUMOULIN

J Med Genet. 2000 Nov; 37(11): e36. doi: 10.1136/jmg.37.11.e36

PMCID:: PMC1734483

Summary PDF–93K

Select item 17343287.

Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis

C Ferec, O Raguenes, R Salomon, C Roche, J Bernard, M Guillot, I Quere, C Faure, B Mercier, M Audrezet, P Guillausseau, C Dupont, A Munnich, J Bignon, L Le Bodic

J Med Genet. 1999 Mar; 36(3): 228–232.

PMCID:: PMC1734328

Summary PDF–125K

Select item 16022088.

Biochemical models of hereditary pancreatitis

Miklós Sahin-Tóth

Endocrinol Metab Clin North Am. Author manuscript; available in PMC 2007 Jun 1.

Published in final edited form as: Endocrinol Metab Clin North Am. 2006 Jun; 35(2): 303–ix. doi: 10.1016/j.ecl.2006.02.002

PMCID:: PMC1602208

Abstract Article PDF–55K

Select item 3305379.

Nucleotide sequence of the human pancreatic trypsinogen III cDNA.

T Tani, I Kawashima, K Mita, Y Takiguchi

Nucleic Acids Res. 1990 Mar 25; 18(6): 1631. doi: 10.1093/nar/18.6.1631

PMCID:: PMC330537

Summary Page Browse PDF–110K

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