Literature DB >> 11073545

A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis.

J M Chen, O Raguenes, C Ferec, P H Deprez, C Verellen-Dumoulin.   

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Year:  2000        PMID： 11073545      PMCID： PMC1734483          DOI： 10.1136/jmg.37.11.e36

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  10 in total

1.  Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations.

Authors:  Richárd Szmola; Miklós Sahin-Tóth
Journal:  J Med Genet       Date:  2010-05       Impact factor: 6.318

2.  Strong purifying selection against gene conversions in the trypsin genes of primates.

Authors:  Nicholas Petronella; Guy Drouin
Journal:  Hum Genet       Date:  2012-06-30       Impact factor: 4.132

3.  Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis.

Authors:  Maiken T Joergensen; Andrea Geisz; Klaus Brusgaard; Ove B Schaffalitzky de Muckadell; Péter Hegyi; Anne-Marie Gerdes; Miklós Sahin-Tóth
Journal:  Pancreas       Date:  2011-05       Impact factor: 3.327

Review 4.  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

5.  [Clinical implications of genetic risk factors of chronic pancreatitis].

Authors:  N Teich; V Keim; J Mössner
Journal:  Internist (Berl)       Date:  2005-02       Impact factor: 0.743

Review 6.  Genetics of acute and chronic pancreatitis: An update.

Authors:  Vv Ravi Kanth; D Nageshwar Reddy
Journal:  World J Gastrointest Pathophysiol       Date:  2014-11-15

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

Authors:  Niels Teich; Zsófia Nemoda; Henrik Köhler; Wolfram Heinritz; Joachim Mössner; Volker Keim; Miklós Sahin-Tóth
Journal:  Hum Mutat       Date:  2005-04       Impact factor: 4.878

8.  Gene conversion between cationic trypsinogen (PRSS1) and the pseudogene trypsinogen 6 (PRSS3P2) in patients with chronic pancreatitis.

Authors:  Agnieszka Magdalena Rygiel; Sebastian Beer; Peter Simon; Katarzyna Wertheim-Tysarowska; Grzegorz Oracz; Torsten Kucharzik; Andrzej Tysarowski; Katarzyna Niepokój; Jarosław Kierkus; Marta Jurek; Paweł Gawliński; Jarosław Poznański; Jerzy Bal; Markus M Lerch; Miklós Sahin-Tóth; Frank Ulrich Weiss
Journal:  Hum Mutat       Date:  2015-03       Impact factor: 4.878

9.  Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis.

Authors:  G R Chandak; M M Idris; D N Reddy; K R Mani; S Bhaskar; G V Rao; L Singh
Journal:  Gut       Date:  2004-05       Impact factor: 23.059

10.  Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography.

Authors:  C Le Maréchal; J M Chen; I Quéré; O Raguénès; C Férec; J Auroux
Journal:  BMC Genet       Date:  2001-11-19       Impact factor: 2.797
  10 in total

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