Literature DB >> 16227369

Association of a new cationic trypsinogen gene mutation (V39A) with chronic pancreatitis in an Italian family.

C Arduino, P Salacone, B Pasini, A Brusco, P Salmin, E Bacillo, A Robecchi, L Cestino, S Cirillo, D Regge, N Cappello, E Gaia.   

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Year:  2005        PMID： 16227369      PMCID： PMC1774735          DOI： 10.1136/gut.2004.062992

Source DB:  PubMed          Journal:  Gut        ISSN： 0017-5749            Impact factor:   23.059


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  8 in total

1.  Mutations in exons 2 and 3 of the cationic trypsinogen gene in Japanese families with hereditary pancreatitis.

Authors:  I Nishimori; M Kamakura; K Fujikawa-Adachi; M Morita; S Onishi; K Yokoyama; I Makino; H Ishida; M Yamamoto; S Watanabe; M Ogawa
Journal:  Gut       Date:  1999-02       Impact factor: 23.059

2.  Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.

Authors:  D C Whitcomb; M C Gorry; R A Preston; W Furey; M J Sossenheimer; C D Ulrich; S P Martin; L K Gates; S T Amann; P P Toskes; R Liddle; K McGrath; G Uomo; J C Post; G D Ehrlich
Journal:  Nat Genet       Date:  1996-10       Impact factor: 38.330

3.  The First International Symposium on Hereditary Pancreatitis.

Authors:  D C Whitcomb
Journal:  Pancreas       Date:  1999-01       Impact factor: 3.327

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

Authors:  M C Gorry; D Gabbaizedeh; W Furey; L K Gates; R A Preston; C E Aston; Y Zhang; C Ulrich; G D Ehrlich; D C Whitcomb
Journal:  Gastroenterology       Date:  1997-10       Impact factor: 22.682

5.  The molecular evolution of the vertebrate trypsinogens.

Authors:  J C Roach; K Wang; L Gan; L Hood
Journal:  J Mol Evol       Date:  1997-12       Impact factor: 2.395

6.  SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis.

Authors:  R H Pfützer; M M Barmada; A P Brunskill; R Finch; P S Hart; J Neoptolemos; W F Furey; D C Whitcomb
Journal:  Gastroenterology       Date:  2000-09       Impact factor: 22.682

7.  Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.

Authors:  J A Cohn; K J Friedman; P G Noone; M R Knowles; L M Silverman; P S Jowell
Journal:  N Engl J Med       Date:  1998-09-03       Impact factor: 91.245

8.  Clinical and genetic characteristics of hereditary pancreatitis in Europe.

Authors:  Nathan Howes; Markus M Lerch; William Greenhalf; Deborah D Stocken; Ian Ellis; Peter Simon; Kaspar Truninger; Rudi Ammann; Giorgio Cavallini; Richard M Charnley; Generoso Uomo; Miriam Delhaye; Julius Spicak; Brendan Drumm; Jan Jansen; Roger Mountford; David C Whitcomb; John P Neoptolemos
Journal:  Clin Gastroenterol Hepatol       Date:  2004-03       Impact factor: 11.382
  8 in total
  4 in total

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

Authors:  András Szabó; Miklós Sahin-Tóth
Journal:  J Biol Chem       Date:  2012-04-26       Impact factor: 5.157

Review 2.  Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.

Authors:  Niels Teich; Jonas Rosendahl; Miklós Tóth; Joachim Mössner; Miklós Sahin-Tóth
Journal:  Hum Mutat       Date:  2006-08       Impact factor: 4.878

Review 3.  Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis.

Authors:  Balázs Csaba Németh; Miklós Sahin-Tóth
Journal:  Am J Physiol Gastrointest Liver Physiol       Date:  2014-01-23       Impact factor: 4.052

4.  Expanding ACMG variant classification guidelines into a general framework.

Authors:  Emmanuelle Masson; Wen-Bin Zou; Emmanuelle Génin; David N Cooper; Gerald Le Gac; Yann Fichou; Na Pu; Vinciane Rebours; Claude Férec; Zhuan Liao; Jian-Min Chen
Journal:  Hum Genomics       Date:  2022-08-16       Impact factor: 6.481
  4 in total

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