ArticleWorld journal of gastroenterology2013
PRSS1_p.Leu81Met mutation results in autoimmune pancreatitis.
Article in World journal of gastroenterology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 25 citations in OpenAlex.
- Emerging roles of ADAM6 and PRSS1 as novel diagnostic/prognostic biomarkers for acute lymphoblastic and myeloid leukemia in adults.BMC cancer · 2025Article
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- V-Set Immunoglobulin Domain-Containing Protein 4 as a Novel Serum Biomarker of Lupus Nephritis and Renal Pathology Activity.Arthritis & rheumatology (Hoboken, N.J.) · 2023Article
- Identification of potential pathogenic genes for severe aplastic anemia by whole-exome sequencing.Journal of clinical laboratory analysis · 2022Article
- Impact of diet and genes on murine autoimmune pancreatitis.Journal of cellular and molecular medicine · 2020Article
- Article
- Article
- Autoimmune Pancreatitis in Children: Characteristic Features, Diagnosis, and Management.The American journal of gastroenterology · 2017Review
- CALCB splice region pathogenic variants leading to plasma cell neurotropic enrichment in type 1 autoimmune pancreatitis.Cell death & disease · 2017Article
- A high-throughput sequence analysis of Japanese patients revealed 11 candidate genes associated with type 1 autoimmune pancreatitis susceptibility.Biochemistry and biophysics reports · 2016Article
- A non-invasive screening technique for type 1 autoimmune pancreatitis.Wideochirurgia i inne techniki maloinwazyjne = Videosurgery and other miniinvasive techniques · 2014Article
- High serum trypsin levels and the -409 T/T genotype of PRSS1 gene are susceptible to neonatal sepsis.Inflammation · 2014Article
- Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis.American journal of physiology. Gastrointestinal and liver physiology · 2014Review
- Multiple gene mutations in patients with type 2 autoimmune pancreatitis and its clinical features.Central-European journal of immunology · 2014Article
- Framework for interpretation of trypsin-antitrypsin imbalance and genetic heterogeneity in pancreatitis.Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology AssociationReview
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo describe protease serine 1 (PRSS1) gene mutations in patients with autoimmune pancreatitis (AIP) and the clinical features of AIP.
methodsFourteen patients with AIP, 56 with other chronic pancreatitis, 254 with pancreatic cancer and 120 normal controls were studied. The mutations and polymorphisms of four genes involved with pancreatitis or pancreatic cancer, PRSS1, SPINK1, CFTR and MEN1, were sequenced. The pathogenic mechanism of AIP was investigated by comparing the wild-type expression system with the p.81Leu→Met mutant expression system.
resultsTwo novel mutations (p.81Leu→Met and p.91Ala→Ala) were found in PRSS1 gene from four patients with AIP. PRSS1_p.81Leu→Met mutation led to a trypsin display reduction (76.2%) combined with phenyl agarose (Ca(2+) induced failure). Moreover, the ratio of trypsin/amylase in patients with AIP was higher than in the patients with pancreatic cancer and other pancreatitis. A large number of lymphocytes and plasma cells were found in the bile ducts accompanied by hyperplasia of myofibroblasts.
conclusionAutoimmune pancreatitis may be related to PRSS1 gene mutations.
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