Varaico: Literature-Extracted Genetic Variants

Gene:PRSS1
Variant:p.D21A
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PRSS1

NM_002769.5:p.D21A

Associated Papers

Pathologically relevant trypsinogen activation in pancreatitis.

Geisz-Fremy A

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2026

Frequency of de novo PRSS1 pathogenic variants in a French cohort of idiopathic pancreatitis.

Masson E et al.

Gut, 2025

A Case Report on Protease Serine 1 (PRSS1)-Related Acute Pancreatitis.

Vijayakumar V et al.

Cureus, 2025

Genetics and Genomics of Chronic Pancreatitis with a Focus on Disease Biology and Molecular Pathogenesis.

Khan E et al.

Global Medical Genetics, 2023

Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN study group.

Masson E et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2023

Expanding ACMG variant classification guidelines into a general framework.

Masson E et al.

Human Genomics, 2022

Hereditary Pancreatitis-25 Years of an Evolving Paradigm: Frank Brooks Memorial Lecture 2021.

Sahin-Tóth M

Pancreas, 2022

Evolutionary expansion of polyaspartate motif in the activation peptide of mouse cationic trypsinogen limits autoactivation and protects against pancreatitis.

Orekhova A et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2021

Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update.

Wertheim-Tysarowska K et al.

Genes, 2021

Engineering mouse cationic trypsinogen for rapid and selective activation by cathepsin B.

Demcsák A et al.

Scientific Reports, 2019

Genetics, Cell Biology, and Pathophysiology of Pancreatitis.

Mayerle J et al.

Gastroenterology, 2019

Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations.

Giefer MJ et al.

The Journal of Pediatrics, 2017

Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway.

Hegyi E et al.

Digestive Diseases and Sciences, 2017

Genetic and electrophysiological characteristics of recurrent acute pancreatitis.

Werlin S et al.

Journal of Pediatric Gastroenterology and Nutrition, 2015

Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis.

Németh BC et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2014

A rare PRSS1 mutation in a Turkish family with hereditary chronic pancreatitis.

Yilmaz B et al.

The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology, 2012

The tetra-aspartate motif in the activation peptide of human cationic trypsinogen is essential for autoactivation control but not for enteropeptidase recognition.

Nemoda Z et al.

The Journal of Biological Chemistry, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."