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Items: 1 to 20 of 149

1.

Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.

Teich N, Rosendahl J, Tóth M, Mössner J, Sahin-Tóth M.

Hum Mutat. 2006 Aug;27(8):721-30. Review.

2.

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
3.

Hereditary chronic pancreatitis.

Teich N, Mössner J.

Best Pract Res Clin Gastroenterol. 2008;22(1):115-30. doi: 10.1016/j.bpg.2007.10.019. Review.

PMID:
18206817
5.

Hereditary chronic pancreatitis.

Rosendahl J, Bödeker H, Mössner J, Teich N.

Orphanet J Rare Dis. 2007 Jan 4;2:1. Review.

6.

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
7.

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
8.

[Hereditary pancreatitis].

Lee SK.

Korean J Gastroenterol. 2005 Nov;46(5):358-67. Review. Korean.

9.

Cationic trypsinogen mutations and pancreatitis.

Howes N, Greenhalf W, Stocken DD, Neoptolemos JP.

Gastroenterol Clin North Am. 2004 Dec;33(4):767-87. Review.

PMID:
15528017
10.

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.

11.

Multisite mutations of the PRSS1 gene in a Chinese patient with chronic pancreatitis.

Liu QC, Gao F, Cheng ZJ, Ou QS.

Hepatobiliary Pancreat Dis Int. 2008 Jun;7(3):331-2.

12.
13.

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

Teich N, Nemoda Z, Köhler H, Heinritz W, Mössner J, Keim V, Sahin-Tóth M.

Hum Mutat. 2005 Apr;25(4):343-7.

14.

A mouse model of hereditary pancreatitis generated by transgenic expression of R122H trypsinogen.

Archer H, Jura N, Keller J, Jacobson M, Bar-Sagi D.

Gastroenterology. 2006 Dec;131(6):1844-55. Epub 2006 Oct 1.

PMID:
17087933
15.

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
16.

[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.

17.

[From gene to disease; hereditary pancreatitis].

Drenth JP, Jansen JB.

Ned Tijdschr Geneeskd. 2000 Nov 25;144(48):2301-2. Review. Dutch.

PMID:
11143296
18.

Cationic trypsinogen mutations and pancreatitis.

Howes N, Greenhalf W, Stocken DD, Neoptolemos JP.

Clin Lab Med. 2005 Mar;25(1):39-59. Review.

PMID:
15749231
19.

Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis.

Gorry MC, Gabbaizedeh D, Furey W, Gates LK Jr, Preston RA, Aston CE, Zhang Y, Ulrich C, Ehrlich GD, Whitcomb DC.

Gastroenterology. 1997 Oct;113(4):1063-8.

PMID:
9322498
20.

Copy number variations in chronic pancreatitis.

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

Cytogenet Genome Res. 2008;123(1-4):102-7. doi: 10.1159/000184697. Epub 2009 Mar 11. Review.

PMID:
19287144
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