Literature DB >> 28011893

Misfolding cationic trypsinogen variant p.L104P causes hereditary pancreatitis.

Balázs Csaba Németh1, Árpád V Patai2, Miklós Sahin-Tóth3, Péter Hegyi4,5.   

Abstract

Entities:  

Keywords:  CHRONIC PANCREATITIS; GENETICS; PANCREATITIS; TRYPSINOGEN

Mesh：

Substances：

Year:  2016        PMID： 28011893      PMCID： PMC5481506          DOI： 10.1136/gutjnl-2016-313451

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


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  2 in total

1.  Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.

Authors:  Andrea Schnúr; Sebastian Beer; Heiko Witt; Péter Hegyi; Miklós Sahin-Tóth
Journal:  Gut       Date:  2013-03-01       Impact factor: 23.059

2.  Pathogenic cellular role of the p.L104P human cationic trypsinogen variant in chronic pancreatitis.

Authors:  Anita Balázs; Péter Hegyi; Miklós Sahin-Tóth
Journal:  Am J Physiol Gastrointest Liver Physiol       Date:  2016-01-28       Impact factor: 4.052
  2 in total
  9 in total

1.  No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort.

Authors:  Hao Wu; Dai-Zhan Zhou; Dorottya Berki; Andrea Geisz; Wen-Bin Zou; Xiao-Tian Sun; Liang-Hao Hu; Zhen-Hua Zhao; An-Jing Zhao; Lin He; David N Cooper; Claude Férec; Jian-Min Chen; Zhao-Shen Li; Miklós Sahin-Tóth; Zhuan Liao
Journal:  Hum Mutat       Date:  2017-05-30       Impact factor: 4.878

2.  A novel p.Ser282Pro CPA1 variant is associated with autosomal dominant hereditary pancreatitis.

Authors:  Aleksandra A Kujko; Dorottya M Berki; Grzegorz Oracz; Karolina Wejnarska; Justyna Antoniuk; Katarzyna Wertheim-Tysarowska; Elwira Kołodziejczyk; Jerzy Bal; Miklós Sahin-Tóth; Agnieszka M Rygiel
Journal:  Gut       Date:  2017-03-03       Impact factor: 23.059

3.  Human CPA1 mutation causes digestive enzyme misfolding and chronic pancreatitis in mice.

Authors:  Eszter Hegyi; Miklós Sahin-Tóth
Journal:  Gut       Date:  2018-07-25       Impact factor: 23.059

4.  Novel p.K374E variant of CPA1 causes misfolding-induced hereditary pancreatitis with autosomal dominant inheritance.

Authors:  Balázs Csaba Németh; Anna Orekhova; Wenying Zhang; Shannon A Nortman; Tyler Thompson; Péter Hegyi; Maisam Abu-El-Haija
Journal:  Gut       Date:  2019-04-20       Impact factor: 31.793

Review 5.  Genetic risk in chronic pancreatitis: the misfolding-dependent pathway.

Authors:  Miklós Sahin-Tóth
Journal:  Curr Opin Gastroenterol       Date:  2017-09       Impact factor: 3.287

Review 6.  Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway.

Authors:  Eszter Hegyi; Miklós Sahin-Tóth
Journal:  Dig Dis Sci       Date:  2017-05-23       Impact factor: 3.199

7.  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

8.  PRSS1 mutation: a possible pathomechanism of pancreatic carcinogenesis and pancreatic cancer.

Authors:  Qicai Liu; Ling Guo; Sheng Zhang; Jingwen Wang; Xinhua Lin; Feng Gao
Journal:  Mol Med       Date:  2019-09-14       Impact factor: 6.354

Review 9.  Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update.

Authors:  Katarzyna Wertheim-Tysarowska; Grzegorz Oracz; Agnieszka Magdalena Rygiel
Journal:  Genes (Basel)       Date:  2021-05-20       Impact factor: 4.096
  9 in total

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