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Items: 1 to 20 of 91

1.

Mutations in the pancreatic secretory enzymes CPA1 and CPB1 are associated with pancreatic cancer.

Tamura K, Yu J, Hata T, Suenaga M, Shindo K, Abe T, MacGregor-Das A, Borges M, Wolfgang CL, Weiss MJ, He J, Canto MI, Petersen GM, Gallinger S, Syngal S, Brand RE, Rustgi A, Olson SH, Stoffel E, Cote ML, Zogopoulos G, Potash JB, Goes FS, McCombie RW, Zandi PP, Pirooznia M, Kramer M, Parla J, Eshleman JR, Roberts NJ, Hruban RH, Klein AP, Goggins M.

Proc Natl Acad Sci U S A. 2018 May 1;115(18):4767-4772. doi: 10.1073/pnas.1720588115. Epub 2018 Apr 18.

2.

Variants in pancreatic carboxypeptidase genes CPA2 and CPB1 are not associated with chronic pancreatitis.

Nakano E, Geisz A, Masamune A, Niihori T, Hamada S, Kume K, Kakuta Y, Aoki Y, Matsubara Y, Ebert K, Ludwig M, Braun M, Groneberg DA, Shimosegawa T, Sahin-Tóth M, Witt H.

Am J Physiol Gastrointest Liver Physiol. 2015 Oct 15;309(8):G688-94. doi: 10.1152/ajpgi.00241.2015. Epub 2015 Aug 27.

3.

Human CPA1 mutation causes digestive enzyme misfolding and chronic pancreatitis in mice.

Hegyi E, Sahin-Tóth M.

Gut. 2019 Feb;68(2):301-312. doi: 10.1136/gutjnl-2018-315994. Epub 2018 Jul 25.

PMID:
30045879
4.

Genetics of pancreatitis: the 2014 update.

Masamune A.

Tohoku J Exp Med. 2014 Feb;232(2):69-77. Review.

5.

Variants in CPA1 are strongly associated with early onset chronic pancreatitis.

Witt H, Beer S, Rosendahl J, Chen JM, Chandak GR, Masamune A, Bence M, Szmola R, Oracz G, Macek M Jr, Bhatia E, Steigenberger S, Lasher D, Bühler F, Delaporte C, Tebbing J, Ludwig M, Pilsak C, Saum K, Bugert P, Masson E, Paliwal S, Bhaskar S, Sobczynska-Tomaszewska A, Bak D, Balascak I, Choudhuri G, Nageshwar Reddy D, Rao GV, Thomas V, Kume K, Nakano E, Kakuta Y, Shimosegawa T, Durko L, Szabó A, Schnúr A, Hegyi P, Rakonczay Z Jr, Pfützer R, Schneider A, Groneberg DA, Braun M, Schmidt H, Witt U, Friess H, Algül H, Landt O, Schuelke M, Krüger R, Wiedenmann B, Schmidt F, Zimmer KP, Kovacs P, Stumvoll M, Blüher M, Müller T, Janecke A, Teich N, Grützmann R, Schulz HU, Mössner J, Keim V, Löhr M, Férec C, Sahin-Tóth M.

Nat Genet. 2013 Oct;45(10):1216-20. doi: 10.1038/ng.2730. Epub 2013 Aug 18.

6.

No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort.

Wu H, Zhou DZ, Berki D, Geisz A, Zou WB, Sun XT, Hu LH, Zhao ZH, Zhao AJ, He L, Cooper DN, Férec C, Chen JM, Li ZS, Sahin-Tóth M, Liao Z.

Hum Mutat. 2017 Aug;38(8):959-963. doi: 10.1002/humu.23254. Epub 2017 May 30.

7.

CFTR, SPINK1, PRSS1, and CTRC mutations are not associated with pancreatic cancer in German patients.

Schubert S, Traub F, Brakensiek K, von Kopylow K, Marohn B, Maelzer M, Gaedcke J, Kreipe H, Stuhrmann M.

Pancreas. 2014 Oct;43(7):1078-82. doi: 10.1097/MPA.0000000000000166.

PMID:
25003218
8.

Complex Formation of Human Proelastases with Procarboxypeptidases A1 and A2.

Szabó A, Pilsak C, Bence M, Witt H, Sahin-Tóth M.

J Biol Chem. 2016 Aug 19;291(34):17706-16. doi: 10.1074/jbc.M116.743237. Epub 2016 Jun 29.

9.

Chymotrypsin C is a co-activator of human pancreatic procarboxypeptidases A1 and A2.

Szmola R, Bence M, Carpentieri A, Szabó A, Costello CE, Samuelson J, Sahin-Tóth M.

J Biol Chem. 2011 Jan 21;286(3):1819-27. doi: 10.1074/jbc.M110.187369. Epub 2010 Nov 22.

10.

Genetic Analysis of Japanese Children With Acute Recurrent and Chronic Pancreatitis.

Saito N, Suzuki M, Sakurai Y, Nakano S, Naritaka N, Minowa K, Sai JK, Shimizu T.

J Pediatr Gastroenterol Nutr. 2016 Oct;63(4):431-6. doi: 10.1097/MPG.0000000000001320.

PMID:
27409067
11.

Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.

Beer S, Zhou J, Szabó A, Keiles S, Chandak GR, Witt H, Sahin-Tóth M.

Gut. 2013 Nov;62(11):1616-24. doi: 10.1136/gutjnl-2012-303090. Epub 2012 Sep 1.

12.

Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations.

Yang XR, Rotunno M, Xiao Y, Ingvar C, Helgadottir H, Pastorino L, van Doorn R, Bennett H, Graham C, Sampson JN, Malasky M, Vogt A, Zhu B, Bianchi-Scarra G, Bruno W, Queirolo P, Fornarini G, Hansson J, Tuominen R, Burdett L, Hicks B, Hutchinson A, Jones K, Yeager M, Chanock SJ, Landi MT, Höiom V, Olsson H, Gruis N, Ghiorzo P, Tucker MA, Goldstein AM.

Hum Genet. 2016 Nov;135(11):1241-1249. Epub 2016 Jul 23.

13.

Genetic risk in chronic pancreatitis: the misfolding-dependent pathway.

Sahin-Tóth M.

Curr Opin Gastroenterol. 2017 Sep;33(5):390-395. doi: 10.1097/MOG.0000000000000380. Review.

14.

Label-Free Quantitative Proteomics Unravels Carboxypeptidases as the Novel Biomarker in Pancreatic Ductal Adenocarcinoma.

Song Y, Wang Q, Wang D, Junqiang Li, Yang J, Li H, Wang X, Jin X, Jing R, Yang JH, Su H.

Transl Oncol. 2018 Jun;11(3):691-699. doi: 10.1016/j.tranon.2018.03.005. Epub 2018 Apr 6.

15.

ER stress-associated CTRC mutants decrease stimulated pancreatic zymogen secretion through SIRT2-mediated microtubule dysregulation.

Binker MG, Richards D, Gaisano HY, Cosen-Binker LI.

Biochem Biophys Res Commun. 2015 Jul 31;463(3):329-35. doi: 10.1016/j.bbrc.2015.05.064. Epub 2015 May 28.

PMID:
26022124
16.

Phosphorylation of carboxypeptidase B1 protein regulates β-cell proliferation.

Yu SL, Han S, Kim HR, Park JW, Jin DI, Kang J.

Int J Mol Med. 2017 Nov;40(5):1397-1404. doi: 10.3892/ijmm.2017.3141. Epub 2017 Sep 19.

17.

Pancreatitis-associated chymotrypsinogen C (CTRC) mutant elicits endoplasmic reticulum stress in pancreatic acinar cells.

Szmola R, Sahin-Tóth M.

Gut. 2010 Mar;59(3):365-72. doi: 10.1136/gut.2009.198903. Epub 2009 Nov 30.

18.

Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants.

Paliwal S, Bhaskar S, Mani KR, Reddy DN, Rao GV, Singh SP, Thomas V, Chandak GR.

Gut. 2013 Nov;62(11):1602-6. doi: 10.1136/gutjnl-2012-302448. Epub 2012 May 12.

PMID:
22580415
19.

SPINK1 and PRSS1 mutations in benign pancreatic hyperenzymemia.

Gullo L, Laghi L, Migliori M, Lucrezio L, Bianchi P, Randolph AE, Mantovani V, Bastagli L, Pezzilli R, Malesci A.

Pancreas. 2008 Jul;37(1):31-5. doi: 10.1097/MPA.0b013e31816172b7.

PMID:
18580441
20.

The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families.

Grocock CJ, Rebours V, Delhaye MN, Andrén-Sandberg A, Weiss FU, Mountford R, Harcus MJ, Niemczyck E, Vitone LJ, Dodd S, Jørgensen MT, Ammann RW, Schaffalitzky de Muckadell O, Butler JV, Burgess P, Kerr B, Charnley R, Sutton R, Raraty MG, Devière J, Whitcomb DC, Neoptolemos JP, Lévy P, Lerch MM, Greenhalf W; European Registry of Hereditary Pancreatitis and Pancreatic Cancer.

Gut. 2010 Mar;59(3):357-63. doi: 10.1136/gut.2009.186817. Epub 2009 Dec 1.

PMID:
19951905

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