Novel p.K374E variant of CPA1 causes misfolding-induced hereditary pancreatitis with autosomal dominant inheritance-Reference-Cited by-同舟云学术

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

Published:2019-04-20 Issue:4 Volume:69 Page:790-792
ISSN:0017-5749
Container-title:Gut
language:en
Short-container-title:Gut

Author:

Németh Balázs Csaba,Orekhova Anna,Zhang Wenying,Nortman Shannon A,Thompson Tyler,Hegyi Péter,Abu-El-Haija Maisam

Funder

National Institute of Diabetes and Digestive and Kidney Diseases

Economic Development and Innovation Operative Programme Grant of the National Research, Development and Innovation Office

Momentum Grant of the Hungarian Academy of Sciences

Hungarian National Research, Development and Innovation Fund

Publisher

BMJ

Subject

Gastroenterology

Reference9 articles.

1. Reducing the number of surveillance colonoscopies with faecal immunochemical tests

2. Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis

3. Genetic risk in chronic pancreatitis: the misfolding-dependent pathway;Sahin-Tóth;Curr Opin Gastroenterol,2017

4. No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort;Wu;Hum Mutat,2017

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

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3. Reg4 deficiency aggravates pancreatitis by increasing mitochondrial cell death and fibrosis;Cell Death & Disease;2024-05-20

4. Pancreatic Diseases: Genetics and Modeling Using Human Pluripotent Stem Cells;International Journal of Stem Cells;2024-04-26

5. Strengths and limitations of AlphaMissense inCPA1missense variant classification;Gut;2024-03-12

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