Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.
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Hereditary pancreatitis: current perspectivesA conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patientsGenetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway.Endoplasmic reticulum stress is chronically activated in chronic pancreatitisIs Total Pancreatectomy with Islet Autotransplantation A Reasonable Choice for Pediatric Pancreatitis?Pathogenic cellular role of the p.L104P human cationic trypsinogen variant in chronic pancreatitisPRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic PancreatitisHuman cationic trypsinogen (PRSS1) variants and chronic pancreatitis.Paediatric pancreatitis.Endoplasmic reticulum stress is activated in acute pancreatitis.An Evaluation of Factors Associated With Pathogenic PRSS1, SPINK1, CTFR, and/or CTRC Genetic Variants in Patients With Idiopathic Pancreatitis.Genetic risk in chronic pancreatitis: the misfolding-dependent pathwayGenome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis.Robust autoactivation, chymotrypsin C independence and diminished secretion define a subset of hereditary pancreatitis-associated cationic trypsinogen mutants.PRSS1 c.623G>C (p.G208A) variant is associated with pancreatitis in Japan.Misfolding cationic trypsinogen variant p.L104P causes hereditary pancreatitis.No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort.Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitis.Chronic pancreatitis.The PRSS1 c.623G>C (p.G208A) mutation is the most common PRSS1 mutation in Korean children with hereditary pancreatitis.Human cationic trypsinogen but not serine peptidase inhibitor, Kazal type 1 variants increase the risk of type 1 autoimmune pancreatitis.
P2860
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P2860
Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.
@en
type
label
Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.
@en
prefLabel
Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.
@en
P2093
P2860
P1433
P1476
Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis
@en
P2093
Andrea Schnúr
Heiko Witt
Péter Hegyi
Sebastian Beer
P2860
P304
P356
10.1136/GUTJNL-2012-304331
P407
P577
2013-03-01T00:00:00Z