ArticleThe Journal of clinical investigation2019
Elastase 3B mutation links to familial pancreatitis with diabetes and pancreatic adenocarcinoma.
Article in The Journal of clinical investigation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 36 citations in OpenAlex.
- Inflammation-Induced Claudin-2 Up-Regulation Limits Pancreatitis Development by Enhancing Pancreatic Ductal Transport.Gastroenterology · 2026Article
- Chromatin accessibility landscapes define stromal cell identities across tissues.Communications biology · 2026Article
- Pathologically relevant trypsinogen activation in pancreatitis.American journal of physiology. Gastrointestinal and liver physiology · 2026Review
- MetaPaCS: A Novel Meta-Learning Framework for Pancreatic Cancer Subtype Identification.bioRxiv : the preprint server for biology · 2026Article
- Identification of plasma extracellular vesicle protein biomarkers in diabetic retinopathy progression.Scientific reports · 2025Article
- Leonurine Alleviates DSS-Induced Colitis in Mice by Regulating Pancreatic Secretion Pathway and Gut Microbiota.Journal of immunology research · 2025Article
- Surgical and Endoscopic Intervention for Chronic Pancreatitis in Children: The Kings College Hospital Experience.Children (Basel, Switzerland) · 2024Review
- Excess pancreatic elastase alters acinar-β cell communication by impairing the mechano-signaling and the PAR2 pathways.Cell metabolism · 2023Article
- LncRNA Regulation Mechanism in Hepatic Alveolar Echinococcosis with Nanosecond Pulse.Acta parasitologica · 2023Article
- A genomic data archive from the Network for Pancreatic Organ donors with Diabetes.Scientific data · 2023Article
- CELA3B immunostaining is a highly specific marker for acinar cell carcinoma of the pancreas.PloS one · 2023Article
- Stress and human health in diabetes: A report from the 19Journal of clinical and translational science · 2023Article
- Loss-of-function variant in chymotrypsin like elastase 3B (CELA3B) is associated with non-alcoholic chronic pancreatitis.Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] · 2022Article
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Authors and funding
13 authors at 1 institution in 2 countries.
Funding
Abstract
While improvements in genetic analysis have greatly enhanced our understanding of the mechanisms behind pancreatitis, it continues to afflict many families for whom the hereditary factors remain unknown. Recent evaluation of a patient with a strong family history of pancreatitis sparked us to reexamine a large kindred originally reported over 50 years ago with an autosomal dominant inheritance pattern of chronic pancreatitis, diabetes and pancreatic adenocarcinoma. Whole exome sequencing analysis identified a rare missense mutation in the gene encoding pancreas-specific protease Elastase 3B (CELA3B) that cosegregates with disease. Studies of the mutant protein in vitro, in cell lines and in CRISPR-Cas9 engineered mice indicate that this mutation causes translational upregulation of CELA3B, which upon secretion and activation by trypsin leads to uncontrolled proteolysis and recurrent pancreatitis. Although lesions in several other pancreatitic proteases have been previously linked to hereditary pancreatitis, this is the first known instance of a mutation in CELA3B and a defect in translational control contributing to this disease.
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