Literature DB >> 31005883

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

Balázs Csaba Németh1,2, Anna Orekhova3, Wenying Zhang4,5, Shannon A Nortman5, Tyler Thompson6, Péter Hegyi2,7, Maisam Abu-El-Haija4,6.   

Abstract

Entities:  

Keywords:  pancreas; pancreatic enzymes; pancreatitis

Mesh：

Substances：

Year:  2019        PMID： 31005883      PMCID： PMC8596457          DOI： 10.1136/gutjnl-2019-318751

Source DB:  PubMed          Journal:  Gut        ISSN： 0017-5749            Impact factor:   31.793


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  9 in total

1.  Variants in CPA1 are strongly associated with early onset chronic pancreatitis.

Authors:  Heiko Witt; Sebastian Beer; Jonas Rosendahl; Jian-Min Chen; Giriraj Ratan Chandak; Atsushi Masamune; Melinda Bence; Richárd Szmola; Grzegorz Oracz; Milan Macek; Eesh Bhatia; Sandra Steigenberger; Denise Lasher; Florence Bühler; Catherine Delaporte; Johanna Tebbing; Maren Ludwig; Claudia Pilsak; Karolin Saum; Peter Bugert; Emmanuelle Masson; Sumit Paliwal; Seema Bhaskar; Agnieszka Sobczynska-Tomaszewska; Daniel Bak; Ivan Balascak; Gourdas Choudhuri; D Nageshwar Reddy; G Venkat Rao; Varghese Thomas; Kiyoshi Kume; Eriko Nakano; Yoichi Kakuta; Tooru Shimosegawa; Lukasz Durko; András Szabó; Andrea Schnúr; Péter Hegyi; Zoltán Rakonczay; Roland Pfützer; Alexander Schneider; David Alexander Groneberg; Markus Braun; Hartmut Schmidt; Ulrike Witt; Helmut Friess; Hana Algül; Olfert Landt; Markus Schuelke; Renate Krüger; Bertram Wiedenmann; Frank Schmidt; Klaus-Peter Zimmer; Peter Kovacs; Michael Stumvoll; Matthias Blüher; Thomas Müller; Andreas Janecke; Niels Teich; Robert Grützmann; Hans-Ulrich Schulz; Joachim Mössner; Volker Keim; Matthias Löhr; Claude Férec; Miklós Sahin-Tóth
Journal:  Nat Genet       Date:  2013-08-18       Impact factor: 38.330

Review 2.  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

3.  Most unambiguous loss-of-function CPA1 mutations are unlikely to predispose to chronic pancreatitis.

Authors:  Jin-Huan Lin; Arnaud Boulling; Emmanuelle Masson; David N Cooper; Zhao-Shen Li; Claude Férec; Zhuan Liao; Jian-Min Chen
Journal:  Gut       Date:  2019-03-12       Impact factor: 23.059

4.  Unfolding the mystery of digestive enzyme misfolding in chronic pancreatitis.

Authors:  Jonas Rosendahl
Journal:  Gut       Date:  2018-08-03       Impact factor: 23.059

5.  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

6.  Misfolding cationic trypsinogen variant p.L104P causes hereditary pancreatitis.

Authors:  Balázs Csaba Németh; Árpád V Patai; Miklós Sahin-Tóth; Péter Hegyi
Journal:  Gut       Date:  2016-12-23       Impact factor: 23.059

7.  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

8.  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

Review 9.  Genetic risk in chronic pancreatitis: the misfolding-dependent pathway.

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

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