The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity-Reference-Cited by-同舟云学术

The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity

Published:2021-01 Issue: Volume:296 Page:100661
ISSN:0021-9258
Container-title:Journal of Biological Chemistry
language:en
Short-container-title:Journal of Biological Chemistry

Author:

Gravdal Anny,Xiao Xunjun^ORCID,Cnop Miriam,El Jellas Khadija^ORCID,Johansson Stefan,Njølstad Pål R.,Lowe Mark E.^ORCID,Johansson Bente B.,Molven Anders^ORCID,Fjeld Karianne

Funder

National Institutes of Health

Norges forskningsråd

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference41 articles.

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5. The role of the carboxyl ester lipase (CEL) gene in pancreatic disease;Johansson;Pancreatology,2018

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1. Rare forms of monogenic diabetes in non-European individuals. First reports of CEL and RFX6 mutations from the Indian subcontinent;Acta Diabetologica;2024-08-27

2. Common single-base insertions in the VNTR of the carboxyl ester lipase (CEL) gene are benign and also likely to arise somatically in the exocrine pancreas;Human Molecular Genetics;2024-03-14

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4. Evaluation of Genetic Variants Associated with the Risk of Thiopurine-Related Pancreatitis: A Case Control Study from ENEIDA Registry;Digestive Diseases;2024

5. Clinical and genetic characteristics of CEL-MODY (MODY8): a literature review and screening in Chinese individuals diagnosed with early-onset type 2 diabetes;Endocrine;2023-09-19