[HTML][HTML] International Consensus Guidelines for Risk Factors in Chronic Pancreatitis. Recommendations from the working group for the international consensus …

P Hegyi, A Párniczky, MM Lerch, ARG Sheel… - Pancreatology, 2020 - Elsevier
Background Chronic pancreatitis (CP) is a complex inflammatory disease with remarkably
impaired quality of life and permanent damage of the pancreas. This paper is part of the …

Genetic determinants of pancreatitis: relevance in severe hypertriglyceridemia

SMT Hang, RA Hegele… - Current Opinion in …, 2023 - journals.lww.com
Currently, among patients with severe hypertriglyceridemia, the most consistent predictor of
pancreatitis risk is the triglyceride level. Furthermore, pancreatitis risk appears to be …

Preclinical mouse model of a misfolded PNLIP variant develops chronic pancreatitis

G Zhu, SJ Wilhelm, LG George, BM Cassidy, S Zino… - Gut, 2023 - gut.bmj.com
Objective Increasing evidence implicates mutation-induced protein misfolding and
endoplasm reticulum (ER) stress in the pathophysiology of chronic pancreatitis (CP). The …

Novel p. G250A mutation associated with chronic pancreatitis highlights misfolding-prone region in carboxypeptidase A1 (CPA1)

M Sándor, FG Thiel, M Schmid, A Demcsák… - International Journal of …, 2022 - mdpi.com
Inborn mutations in the digestive protease carboxypeptidase A1 (CPA1) gene may be
associated with hereditary and idiopathic chronic pancreatitis (CP). Pathogenic mutations …

SEC16A Variants Predispose to Chronic Pancreatitis by Impairing ER‐to‐Golgi Transport and Inducing ER Stress

MJ Wang, YC Wang, E Masson, YH Wang… - Advanced …, 2024 - Wiley Online Library
Chronic pancreatitis (CP) is a complex disease with genetic and environmental factors at
play. Through trio exome sequencing, a de novo SEC16A frameshift variant in a Chinese …

Functional predictors of pathogenicity of missense CPA1 variants in chronic pancreatitis

M Sándor, M Sahin-Tóth - Gut, 2024 - gut.bmj.com
We read with great interest the recent article by Zhu et al, 1 demonstrating that misfolding of
pancreatic lipase due to an inborn mutation causes chronic pancreatitis (CP). Variants in the …

Reg4 deficiency aggravates pancreatitis by increasing mitochondrial cell death and fibrosis

W Yan, Y Wang, Y Lu, S Peng, B Wu, W Cai… - Cell Death & …, 2024 - nature.com
Regenerating gene family member 4 (Reg4) has been implicated in acute pancreatitis, but
its precise functions and involved mechanisms have remained unclear. Herein, we sought to …

[HTML][HTML] Pancreatic Diseases: Genetics and Modeling Using Human Pluripotent Stem Cells

Y Lee, K Lee - International Journal of Stem Cells, 2024 - synapse.koreamed.org
Pancreas serves endocrine and exocrine functions in the body; thus, their pathology can
cause a broad range of irreparable consequences. Endocrine functions include the …

[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) …

[HTML][HTML] A rare PRSS1 p. S127C mutation is associated with chronic pancreatitis and causes misfolding-induced ER-stress

F Thiel, M Reiser, FU Weiss - Pancreatology, 2022 - Elsevier
Abstract Background/Objectives: Sequence variants in several genes have been identified
as being associated with an increased inherited risk to develop chronic pancreatitis (CP). In …