Absence of mesotrypsinogen gene (PRSS3) copy number variations in patients with chronic pancreatitis

被引：8

作者：

Masson, Emmanuelle ^{[1
,2
,3
,4
]}

Le Marechal, Cedric ^{[1
,2
,3
,4
]}

Chen, Jian-Min ^{[1
,2
,3
,4
]}

Ferec, Claude ^{[1
,2
,3
,4
]}

机构：

[1] INSERM, U613, Brest, France

[2] Univ Bretagne Occidentale, Fac Med & Sci Sante, Brest, France

[3] CHU Brest, Hop Morvan, Lab Genet Mol & Histocompatibilite, F-29285 Brest, France

[4] EFS Bretagne, Brest, France

来源：

PANCREAS | 2008年 / 37卷 / 02期

关键词：

D O I：

10.1097/MPA.0b013e3181654b6a

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

引用

页码：227 / 228

页数：2

共 10 条

[1] Loss of function mutations in the cationic trypsinogen gene (PRSS1) may act as a protective factor against pancreatitis [J].

Chen, JM ;

Le Maréchal, C ;

Lucas, D ;

Raguénès, O ;

Férec, C .

MOLECULAR GENETICS AND METABOLISM, 2003, 79 (01) :67-70

[2]

Chen JM, 1999, SCAND J GASTROENTERO, V34, P831

[3]

CHEN JM, 2004, HDB PROTEOLYTIC ENZY, P1489

[4] Hereditary pancreatitis caused by triplication of the trypsinogen locus [J].

Le Marechal, Cedric ;

Masson, Emmanuelle ;

Chen, Jian-Min ;

Morel, Frederic ;

Ruszniewski, Philippe ;

Levy, Philippe ;

Ferec, Claude .

NATURE GENETICS, 2006, 38 (12) :1372-1374

[5] Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis [J].

Masson, E. ;

Le Marechal, C. ;

Chandak, G. R. ;

Lamoril, J. ;

Bezieau, S. ;

Mahurkar, S. ;

Bhaskar, S. ;

Reddy, D. N. ;

Chen, J. -M. ;

Ferec, C. .

CLINICAL GASTROENTEROLOGY AND HEPATOLOGY, 2008, 6 (01) :82-88

[6] Genetic and biochemical characterization of the E32del polymorphism in human mesotrypsinogen [J].

Nemoda, Z ;

Teich, N ;

Hugenberg, C ;

Sahin-Tóth, M .

PANCREATOLOGY, 2005, 5 (2-3) :273-278

[7] Human mesotrypsin exhibits restricted S1′ subsite specificity with a strong preference for small polar side chains [J].

Szepessy, Edit ;

Sahin-Toth, Miklos .

FEBS JOURNAL, 2006, 273 (13) :2942-2954

[8] Interaction between trypsinogen isoforms in genetically determined pancreatitis:: Mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2) [J].

Teich, N ;

Le Maréchal, C ;

Kukor, Z ;

Caca, K ;

Witzigmann, H ;

Chen, JM ;

Tóth, M ;

Mössner, J ;

Keim, V ;

Férec, C ;

Sahin-Tóth, M .

HUMAN MUTATION, 2004, 23 (01) :22-31

[9] Mutations of human cationlic trypsinogen (PRSS1) and chronic pancreatitis [J].

Teich, Niels ;

Rosendahl, Jonas ;

Toth, Miklos ;

Moessner, Joachim ;

Sahin-Toth, Miklos .

HUMAN MUTATION, 2006, 27 (08) :721-730

[10] A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis [J].

Witt, Heiko ;

Sahin-Toth, Miklos ;

Landt, Olfert ;

Chen, Jian-Min ;

Kaehne, Thilo ;

Drenth, Joost P. H. ;

Kukor, Zoltan ;

Szepessy, Edit ;

Halangk, Walter ;

Dahm, Stefan ;

Rohde, Klaus ;

Schulz, Hans-Ulrich ;

Le Marechal, Cedric ;

Akar, Nejat ;

Ammann, Rudolf W. ;

Truninger, Kaspar ;

Bargetzi, Mario ;

Bhatia, Eesh ;

Castellani, Carlo ;

Cavestro, Giulia Martina ;

Cerny, Milos ;

Destro-Bisol, Giovanni ;

Spedini, Gabriella ;

Eiberg, Hans ;

Jansen, Jan B. M. J. ;

Koudova, Monika ;

Rausova, Eva ;

Macek, Milan, Jr. ;

Malats, Nuria ;

Real, Francisco X. ;

Menzel, Hans-Jurgen ;

Moral, Pedro ;

Galavotti, Roberta ;

Pignatti, Pier Franco ;

Rickards, Olga ;

Spicak, Julius ;

Zarnescu, Narcis Octavian ;

Bock, Wolfgang ;

Gress, Thomas M. ;

Friess, Helmut ;

Ockenga, Johann ;

Schmidt, Hartmut ;

Pfutzer, Roland ;

Lohr, Matthias ;

Simon, Peter ;

Weiss, Frank Ulrich ;

Lerch, Markus M. ;

Teich, Niels ;

Keim, Volker ;

Berg, Thomas .

NATURE GENETICS, 2006, 38 (06) :668-673

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