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Literature DB >> 28258133

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

Aleksandra A Kujko¹, Dorottya M Berki², Grzegorz Oracz³, Karolina Wejnarska³, Justyna Antoniuk¹, Katarzyna Wertheim-Tysarowska¹, Elwira Kołodziejczyk³, Jerzy Bal¹, Miklós Sahin-Tóth², Agnieszka M Rygiel¹.

Abstract

Entities: CellLine Chemical Disease Gene Mutation Species

Keywords: CHRONIC PANCREATITIS; GENETICS; PANCREATITIS

Mesh：

Substances：

Year: 2017 PMID： 28258133 PMCID： PMC5933945 DOI： 10.1136/gutjnl-2017-313816

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

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2 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

2. 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

2 in total

8 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. Endoplasmic stress-inducing variants in CPB1 and CPA1 and risk of pancreatic cancer: A case-control study and meta-analysis.

Authors: Makoto Kawamoto; Shiro Kohi; Toshiya Abe; Mohamad Dbouk; Anne Macgregor-Das; Chiho Koi; Ki-Byung Song; Michael Borges; Ryo Sugimine; Daniel Laheru; Ralph H Hruban; Nicholas Roberts; Alison P Klein; Michael Goggins
Journal: Int J Cancer Date: 2021-12-06 Impact factor: 7.396

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

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

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

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

2. Endoplasmic stress-inducing variants in CPB1 and CPA1 and risk of pancreatic cancer: A case-control study and meta-analysis.

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

Review 4. Genetics, Cell Biology, and Pathophysiology of Pancreatitis.

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

Review 6. Genetic risk in chronic pancreatitis: the misfolding-dependent pathway.

7. Misfolding-induced chronic pancreatitis in CPA1 N256K mutant mice is unaffected by global deletion of Ddit3/Chop.

Review 8. Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update.