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Results: 1 to 20 of 131

Similar articles for PubMed (Select 19191323)

1.

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

Kereszturi E, Szmola R, Kukor Z, Simon P, Weiss FU, Lerch MM, Sahin-Tóth M.

Hum Mutat. 2009 Apr;30(4):575-82. doi: 10.1002/humu.20853.

2.

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
3.

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.

4.

Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis.

Pfützer R, Myers E, Applebaum-Shapiro S, Finch R, Ellis I, Neoptolemos J, Kant JA, Whitcomb DC.

Gut. 2002 Feb;50(2):271-2.

5.

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
6.

Increased activation of hereditary pancreatitis-associated human cationic trypsinogen mutants in presence of chymotrypsin C.

Szabó A, Sahin-Tóth M.

J Biol Chem. 2012 Jun 8;287(24):20701-10. doi: 10.1074/jbc.M112.360065. Epub 2012 Apr 26.

7.

Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants.

Teich N, Bauer N, Mössner J, Keim V.

Am J Gastroenterol. 2002 Feb;97(2):341-6.

PMID:
11866271
8.

Hereditary pancreatitis: clinical features and inheritance characteristics of the R122C mutation in the cationic trypsinogen gene (PRSS1) in six Spanish families.

de las Heras-Castaño G, Castro-Senosiaín B, Fontalba A, López-Hoyos M, Sánchez-Juán P.

JOP. 2009 May 18;10(3):249-55.

9.

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
10.

Screening for human cationic trypsinogen (PRSS1) and trypsinogen inhibitor gene (SPINK1) mutations in a Finnish family with hereditary pancreatitis.

Räty S, Piironen A, Babu M, Pelli H, Sand J, Uotila S, Nordback I, Herzig KH.

Scand J Gastroenterol. 2007 Aug;42(8):1000-5.

PMID:
17613931
11.

A 93 year old man with the PRSS1 R122H mutation, low SPINK1 expression, and no pancreatitis: insights into phenotypic non-penetrance.

Khalid A, Finkelstein S, Thompson B, Kelly L, Hanck C, Godfrey TE, Whitcomb DC.

Gut. 2006 May;55(5):728-31. Epub 2005 Dec 14.

12.

Mutations of the cationic trypsinogen gene in hereditary and non-hereditary pancreatitis.

O'Reilly DA, Yang BM, Creighton JE, Demaine AG, Kingsnorth AN.

Digestion. 2001;64(1):54-60.

PMID:
11549837
13.

Intracellular autoactivation of human cationic trypsinogen mutants causes reduced trypsinogen secretion and acinar cell death.

Kereszturi E, Sahin-Tóth M.

J Biol Chem. 2009 Nov 27;284(48):33392-9. doi: 10.1074/jbc.M109.056812. Epub 2009 Sep 29.

14.

Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis.

Joergensen MT, Geisz A, Brusgaard K, Schaffalitzky de Muckadell OB, Hegyi P, Gerdes AM, Sahin-Tóth M.

Pancreas. 2011 May;40(4):540-6. doi: 10.1097/MPA.0b013e3182152fdf.

15.

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
16.
18.

Presence of cathepsin B in the human pancreatic secretory pathway and its role in trypsinogen activation during hereditary pancreatitis.

Kukor Z, Mayerle J, Krüger B, Tóth M, Steed PM, Halangk W, Lerch MM, Sahin-Tóth M.

J Biol Chem. 2002 Jun 14;277(24):21389-96. Epub 2002 Apr 3.

19.

[Three cases of hereditary pancreatitis in two households in the same family associated with R122H mutation in cationic trypsinogen gene].

Lee TY, Oh HC, Kim MH, Kwon S, Lee SS, Seo DW, Lee SK.

Korean J Gastroenterol. 2007 Jun;49(6):395-9. Korean.

20.

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
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