[HTML][HTML] ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents

SAW Greeley, M Polak, PR Njølstad, F Barbetti… - Pediatric …, 2022 - ncbi.nlm.nih.gov
ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of
monogenic diabetes in children and adolescents - PMC Back to Top Skip to main content NIH …

From glucose sensing to exocytosis: takes from maturity onset diabetes of the young

S Samadli, Q Zhou, B Zheng, W Gu… - Frontiers in …, 2023 - frontiersin.org
Monogenic diabetes gave us simplified models of complex molecular processes occurring
within β-cells, which allowed to explore the roles of numerous proteins from single protein …

Clinical and genetic characteristics of CEL-MODY (MODY8): a literature review and screening in Chinese individuals diagnosed with early-onset type 2 diabetes

S Sun, S Gong, M Li, X Wang, F Wang, X Cai, W Liu… - Endocrine, 2024 - Springer
Objective CEL-related maturity-onset diabetes of the young (CEL-MODY, MODY8) is a
special type of monogenetic diabetes caused by mutations in the carboxyl-ester lipase …

Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases

K El Jellas, P Dušátková, IS Haldorsen… - The Journal of …, 2022 - academic.oup.com
Context Maturity onset diabetes of the young, type 8 (MODY8) is associated with mutations
in the CEL gene, which encodes the digestive enzyme carboxyl ester lipase. Several …

[HTML][HTML] The genetic risk factor CEL-HYB1 causes proteotoxicity and chronic pancreatitis in mice

K Fjeld, A Gravdal, RS Brekke, J Alam, SJ Wilhelm… - Pancreatology, 2022 - Elsevier
Background & aims The CEL gene encodes the digestive enzyme carboxyl ester lipase.
CEL-HYB1, a hybrid allele of CEL and its adjacent pseudogene CELP, is a genetic variant …

[HTML][HTML] The CEL-HYB1 hybrid allele promotes digestive enzyme misfolding and pancreatitis in mice

XT Mao, WB Zou, Y Cao, YC Wang, SJ Deng… - Cellular and Molecular …, 2022 - Elsevier
Background & Aims A hybrid allele that originated from homologous recombination between
CEL and its pseudogene (CELP), CEL-HYB1 increases the risk of chronic pancreatitis (CP) …

Identification and characterization of novel carboxyl ester lipase gene variants in patients with different subtypes of diabetes

H Wu, M Shu, C Liu, W Zhao, Q Li, Y Song… - BMJ Open Diabetes …, 2023 - drc.bmj.com
Introduction Mutations of CEL gene were first reported to cause a new type of maturity-onset
diabetes of the young (MODY) denoted as MODY8 and then were also found in patients with …

[HTML][HTML] Missense PNLIP mutations impeding pancreatic lipase secretion cause protein misfolding and endoplasmic reticulum stress

V Toldi, N Kassay, A Szabó - Pancreatology, 2021 - Elsevier
Abstract Background/Objective Mutation-induced misfolding of digestive enzymes has been
shown to cause chronic pancreatitis. Recently, heterozygous pancreatic lipase (PNLIP) …

Detecting tandem repeat variants in coding regions using code-adVNTR

J Park, M Bakhtiari, B Popp, M Wiesener, V Bafna - Iscience, 2022 - cell.com
The human genome contains more than one million tandem repeats (TRs), DNA sequences
containing multiple approximate copies of a motif repeated contiguously. TRs account for …

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

RS Brekke, A Gravdal, K El Jellas… - Human Molecular …, 2024 - academic.oup.com
The CEL gene encodes carboxyl ester lipase, a pancreatic digestive enzyme. CEL is
extremely polymorphic due to a variable number tandem repeat (VNTR) located in the last …