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Items: 1 to 20 of 224

1.
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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.

Felderbauer P, Schnekenburger J, Lebert R, Bulut K, Parry M, Meister T, Schick V, Schmitz F, Domschke W, Schmidt WE.

J Med Genet. 2008 Aug;45(8):507-12. doi: 10.1136/jmg.2007.056481. Epub 2008 May 29.

PMID:
18511571
4.

Hereditary pancreatitis caused by a novel PRSS1 mutation (Arg-122 --> Cys) that alters autoactivation and autodegradation of cationic trypsinogen.

Simon P, Weiss FU, Sahin-Toth M, Parry M, Nayler O, Lenfers B, Schnekenburger J, Mayerle J, Domschke W, Lerch MM.

J Biol Chem. 2002 Feb 15;277(7):5404-10. Epub 2001 Nov 21.

5.

Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2).

Teich N, Le Maréchal C, Kukor Z, Caca K, Witzigmann H, Chen JM, Tóth M, Mössner J, Keim V, Férec C, Sahin-Tóth M.

Hum Mutat. 2004 Jan;23(1):22-31.

PMID:
14695529
6.

Mutational screening of the cationic trypsinogen gene in a large cohort of subjects with idiopathic chronic pancreatitis.

Chen JM, Piepoli Bis A, Le Bodic L, Ruszniewski P, Robaszkiewicz M, Deprez PH, Raguenes O, Quere I, Andriulli A, Ferec C.

Clin Genet. 2001 Mar;59(3):189-93.

PMID:
11260229
7.

Molecular basis of hereditary pancreatitis.

Chen JM, Ferec C.

Eur J Hum Genet. 2000 Jul;8(7):473-9. Review.

9.

[Significance of trypsinogen gene mutations in the etiology of hereditary pancreatitis].

Sahin-Tóth M, Tóth M.

Orv Hetil. 2001 Mar 25;142(12):603-6. Hungarian.

PMID:
11324217
10.

Identification of a novel pancreatitis-associated missense mutation, R116C, in the human cationic trypsinogen gene (PRSS1).

Le Maréchal C, Bretagne JF, Raguénès O, Quéré I, Chen JM, Ferec C.

Mol Genet Metab. 2001 Nov;74(3):342-4.

PMID:
11708864
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Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation.

Teich N, Ockenga J, Hoffmeister A, Manns M, Mössner J, Keim V.

Gastroenterology. 2000 Aug;119(2):461-5.

PMID:
10930381
15.

Trypsinogen stabilization by mutation Arg117-->His: a unifying pathomechanism for hereditary pancreatitis?

Sahin-Tóth M, Gráf L, Tóth M.

Biochem Biophys Res Commun. 1999 Oct 22;264(2):505-8.

PMID:
10529393
16.

Genetic aspects of chronic pancreatitis: insights into aetiopathogenesis and clinical implications.

Truninger K, Ammann RW, Blum HE, Witt H.

Swiss Med Wkly. 2001 Oct 6;131(39-40):565-74. Review.

PMID:
11775491
17.

Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation.

Masson E, Le Maréchal C, Delcenserie R, Chen JM, Férec C.

Hum Genet. 2008 Jun;123(5):521-9. doi: 10.1007/s00439-008-0508-6. Epub 2008 May 7.

PMID:
18461367
18.

Hereditary pancreatitis-associated mutation asn(21) --> ile stabilizes rat trypsinogen in vitro.

Sahin-Tóth M.

J Biol Chem. 1999 Oct 15;274(42):29699-704. Erratum in: J Biol Chem 2000 May 5;275(18):14004.

19.

Gain-of-function mutations associated with hereditary pancreatitis enhance autoactivation of human cationic trypsinogen.

Sahin-Tóth M, Tóth M.

Biochem Biophys Res Commun. 2000 Nov 19;278(2):286-9.

PMID:
11097832
20.

Tighter Control by Chymotrypsin C (CTRC) Explains Lack of Association between Human Anionic Trypsinogen and Hereditary Pancreatitis.

Jancsó Z, Sahin-Tóth M.

J Biol Chem. 2016 Jun 17;291(25):12897-905. doi: 10.1074/jbc.M116.725374. Epub 2016 Apr 18.

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