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 …
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 …
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 …
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 …
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) …
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 …
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) …
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 …
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 …