Information de reference pour ce titreAccession Number: | 01445433-200608000-00001.
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Author: | Teich, Niels 1*; Rosendahl, Jonas 1; Toth, Miklos 2; Mossner, Joachim 1; Sahin-Toth, Miklos 3
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Institution: | (1)Medizinische Klinik und Poliklinik II, Universitat Leipzig, Germany; (2)Department of Medical Chemistry, Pathobiochemistry, and Molecular Biology, Semmelweis University, Budapest, Hungary; (3)Department of Molecular and Cell Biology, Boston University Goldman School of Dental Medicine, Boston, Massachusetts;
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Title: | Mutations of Human Cationic Trypsinogen (PRSS1) and Chronic Pancreatitis.[Miscellaneous Article]
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Source: | Human Mutation. 27(8):721-730, August 2006.
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Abstract: | : Ten years ago, the groundwork for the discovery of the genetic basis of chronic pancreatitis was laid by linkage analyses of large kindreds with autosomal dominant hereditary chronic pancreatitis. Subsequent candidate gene sequencing of the 7q35 chromosome region revealed a strong association of the c.365G>A (p.R122H) mutation of the PRSS1 gene encoding cationic trypsinogen with hereditary pancreatitis. In the following years, further mutations of this gene were discovered in patients with hereditary or idiopathic chronic pancreatitis. In vitro the mutations increase autocatalytic conversion of trypsinogen to active trypsin and thus probably cause premature, intrapancreatic trypsinogen activation in vivo. The clinical presentation is highly variable, but most affected mutation carriers have relatively mild disease. In this review, we summarize the current knowledge on trypsinogen mutations and their role in pancreatic diseases. Hum Mutat 27(8), 721-730, 2006. (C) 2006 Wiley-Liss, Inc.
Copyright (C) 2006 John Wiley & Sons, Inc.
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Author Keywords: | cationic trypsinogen; PRSS1; hereditary pancreatitis; chronic pancreatitis.
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Language: | English.
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Document Type: | MUTATION UPDATE.
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Journal Subset: | Life & Biomedical Sciences. Science.
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ISSN: | 1059-7794
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DOI Number: | https://dx.doi.org/10.1002/humu....- ouverture dans une nouvelle fenêtre
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