PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis

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PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.3343/ALM.2016.36.6.555
P932PMC publication ID5011109
P698PubMed publication ID27578509

P50authorKyung-A LeeQ60375926
Saeam ShinQ85505121
P2093author name stringSun Mi Cho
P2860cites workA haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases.Q51655795
The PRSS1 c.623G>C (p.G208A) mutation is the most common PRSS1 mutation in Korean children with hereditary pancreatitis.Q53283990
Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.Q54593532
Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.Q55067851
Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitisQ57263763
The hereditary pancreatitis gene maps to long arm of chromosome 7Q71625105
A gene for hereditary pancreatitis maps to chromosome 7q35Q71884887
Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitisQ79144290
Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitisQ24645261
Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitisQ24658116
SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitisQ28138406
Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitisQ28145585
Pedigree of a family with hereditary chronic relapsing pancreatitisQ28244501
A 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 patientsQ30000783
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologyQ34465792
Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis.Q34628792
Mesotrypsin Signature Mutation in a Chymotrypsin C (CTRC) Variant Associated with Chronic Pancreatitis.Q35837145
Chronic pancreatitis: challenges and advances in pathogenesis, genetics, diagnosis, and therapy.Q36805212
Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.Q36927073
Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort studyQ37172601
Genetics of pancreatitis: a guide for cliniciansQ37869759
Chymotrypsin C (caldecrin) stimulates autoactivation of human cationic trypsinogenQ38290039
Analysis of PRSS1 and SPINK1 mutations in Korean patients with idiopathic and familial pancreatitisQ38498428
Mutations of the cystic fibrosis gene in patients with chronic pancreatitisQ38502091
Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitisQ39222848
Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variantsQ39334642
Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis riskQ40906883
Mutation in the SPINK1 trypsin inhibitor gene, alcohol use, and chronic pancreatitisQ43626455
Identification of novel missense CTRC variants in Japanese patients with chronic pancreatitisQ45140102
PRSS1 c.623G>C (p.G208A) variant is associated with pancreatitis in JapanQ45185945
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
Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutationQ48074890
P275copyright licenseCreative Commons Attribution-NonCommercial 4.0 InternationalQ34179348
P6216copyright statuscopyrightedQ50423863
P433issue6
P304page(s)555-560
P577publication date2016-11-01
P1433published inAnnals of laboratory medicineQ26853883
P1476titlePRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis
P478volume36

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cites work (P2860)
Q92370211Effect of lentivirus-mediated CFTR overexpression on oxidative stress injury and inflammatory response in the lung tissue of COPD mouse model
Q36324719Genetic Background and Clinical Characters of Pediatric Chronic Pancreatitis: Data and Implications from the East
Q33843764Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway
Q39398523Genetic risk in chronic pancreatitis: the misfolding-dependent pathway
Q58690866SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis
Q64239617Toward a clinical diagnostic pipeline for SPINK1 intronic variants

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