Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.

scientific article published on March 2013

Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1136/GUTJNL-2012-304331
P932PMC publication ID3681892
P698PubMed publication ID23455445

P50authorMiklós Sahin-TóthQ38318675
Heiko WittQ90796906
P2093author name stringPéter Hegyi
Sebastian Beer
Andrea Schnúr
P2860cites workHereditary pancreatitis is caused by a mutation in the cationic trypsinogen geneQ24311652
Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutationsQ24620760
Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanismQ24650338
Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitisQ24658116
Chymotrypsin C (caldecrin) promotes degradation of human cationic trypsin: identity with Rinderknecht's enzyme YQ24675338
Mutational screening of the cationic trypsinogen gene in a large cohort of subjects with idiopathic chronic pancreatitisQ28205812
Clinical and genetic characteristics of hereditary pancreatitis in EuropeQ28250117
Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitisQ30528817
New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ?Q33719943
Pancreatitis-associated chymotrypsinogen C (CTRC) mutant elicits endoplasmic reticulum stress in pancreatic acinar cellsQ33764920
High affinity small protein inhibitors of human chymotrypsin C (CTRC) selected by phage display reveal unusual preference for P4' acidic residuesQ33880616
Increased activation of hereditary pancreatitis-associated human cationic trypsinogen mutants in presence of chymotrypsin CQ36016998
Genetic prevalence and characteristics in children with recurrent pancreatitisQ37957666
Chymotrypsin C (caldecrin) stimulates autoactivation of human cationic trypsinogenQ38290039
Expression of human cationic trypsinogen with an authentic N terminus using intein-mediated splicing in aminopeptidase P deficient Escherichia coliQ38605810
Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitisQ39222848
Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis riskQ40906883
Expression of recombinant proteins with uniform N-terminiQ42219434
R116C mutation of cationic trypsinogen in a Turkish family with recurrent pancreatitis illustrates genetic microheterogeneity of hereditary pancreatitisQ43884492
Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variantsQ43897249
The natural history of hereditary pancreatitis: a national seriesQ43900582
Association and differential role of PRSS1 and SPINK1 mutation in early-onset and late-onset idiopathic chronic pancreatitis in Chinese subjects.Q43968341
Novel mutations of PRSS1 gene in patients with pancreatic cancer among Han populationQ44299208
CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?Q46039599
High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitisQ46905124
Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitisQ79144290
Hereditary pancreatitis caused by triplication of the trypsinogen locusQ79314164
P433issue2
P407language of work or nameEnglishQ1860
P304page(s)337-343
P577publication date2013-03-01
P1433published inGutQ5621669
P1476titleFunctional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis
P478volume63

Reverse relations

cites work (P2860)
Q30000783A 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 patients
Q90044620ATF6 regulates the development of chronic pancreatitis by inducing p53-mediated apoptosis
Q39260953An Evaluation of Factors Associated With Pathogenic PRSS1, SPINK1, CTFR, and/or CTRC Genetic Variants in Patients With Idiopathic Pancreatitis
Q86874923Characterization of two deletions of the CTRC locus
Q52519464Chronic pancreatitis.
Q48271163Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitis
Q38802376Endoplasmic reticulum stress is activated in acute pancreatitis
Q34283421Endoplasmic reticulum stress is chronically activated in chronic pancreatitis
Q33843764Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway
Q39398523Genetic risk in chronic pancreatitis: the misfolding-dependent pathway
Q40103441Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis
Q26739600Hereditary pancreatitis: current perspectives
Q37629167Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis
Q55058320Human cationic trypsinogen but not serine peptidase inhibitor, Kazal type 1 variants increase the risk of type 1 autoimmune pancreatitis.
Q57456156INternational Study Group of Pediatric Pancreatitis: In Search for a CuRE Cohort Study: Design and Rationale for INSPPIRE 2 From the Consortium for the Study of Chronic Pancreatitis, Diabetes, and Pancreatic Cancer
Q36219710Is Total Pancreatectomy with Islet Autotransplantation A Reasonable Choice for Pediatric Pancreatitis?
Q48120455Misfolding cationic trypsinogen variant p.L104P causes hereditary pancreatitis
Q48153726No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort
Q45185945PRSS1 c.623G>C (p.G208A) variant is associated with pancreatitis in Japan
Q37231509PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis
Q38548458Paediatric pancreatitis
Q36775826Pathogenic cellular role of the p.L104P human cationic trypsinogen variant in chronic pancreatitis
Q42145402Robust autoactivation, chymotrypsin C independence and diminished secretion define a subset of hereditary pancreatitis-associated cationic trypsinogen mutants.
Q53283990The PRSS1 c.623G>C (p.G208A) mutation is the most common PRSS1 mutation in Korean children with hereditary pancreatitis.

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