Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk

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Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1136/GUTJNL-2012-303090
P932PMC publication ID3660471
P698PubMed publication ID22942235

P50authorHeiko WittQ90796906
P2093author name stringAndrás Szabó
Jiayi Zhou
Miklós Sahin-Tóth
Giriraj Ratan Chandak
Steven Keiles
Sebastian Beer
P2860cites workComprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variantsQ39334642
CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?Q46039599
Multifactorial genesis of pancreatitis in primary hyperparathyroidism: evidence for "protective" (PRSS2) and "destructive" (CTRC) genetic factorsQ84564015
Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitisQ24645261
Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanismQ24650338
Chymotrypsin C (caldecrin) promotes degradation of human cationic trypsin: identity with Rinderknecht's enzyme YQ24675338
Chymotrypsin C mutations in chronic pancreatitisQ27693296
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
Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitisQ34732835
Tropical calcific pancreatitis and its association with CTRC and SPINK1 (p.N34S) variantsQ34978483
Association of novel chymotrypsin C gene variations and haplotypes in patients with chronic pancreatitis in Chinese in Taiwan.Q34978689
Increased activation of hereditary pancreatitis-associated human cationic trypsinogen mutants in presence of chymotrypsin CQ36016998
Glucocorticoids increase amylase mRNA levels, secretory organelles, and secretion in pancreatic acinar AR42J cellsQ36212907
Chronic pancreatitis: genetics and pathogenesisQ37488219
Genetic aspects of pancreatitisQ37670869
Genetics of pancreatitis: a guide for cliniciansQ37869759
Asparagine-linked glycosylation of human chymotrypsin C is required for folding and secretion but not for enzyme activityQ38963298
P433issue11
P407language of work or nameEnglishQ1860
P304page(s)1616-1624
P577publication date2012-09-01
P1433published inGutQ5621669
P1476titleComprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk
P478volume62

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cites work (P2860)
Q42725781A Carboxyl Ester Lipase (CEL) Mutant Causes Chronic Pancreatitis by Forming Intracellular Aggregates That Activate Apoptosis
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
Q37725572Association of CTRC and SPINK1 gene variants with recurrent hospitalizations for pancreatitis or acute abdominal pain in lipoprotein lipase deficiency
Q36251687CTRC gene polymorphism (p.G60=; c.180 C > T) in acute pancreatitis
Q86874923Characterization of two deletions of the CTRC locus
Q52519464Chronic pancreatitis.
Q48271163Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitis
Q35319462Endoplasmic reticulum stress promotes amyloid-beta peptides production in RGC-5 cells
Q36927073Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.
Q48247460Genetic Polymorphisms: A Novel Perspective on Acute Pancreatitis.
Q33843764Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway
Q34667122Genetic and phenotypic heterogeneity in tropical calcific pancreatitis
Q36933359Genetic risk factors for pancreatic disorders
Q39398523Genetic risk in chronic pancreatitis: the misfolding-dependent pathway
Q26739600Hereditary pancreatitis: current perspectives
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
Q89517074Inactivation of mesotrypsin by chymotrypsin C prevents trypsin inhibitor degradation
Q37638790Insights into the genetic risk factors for the development of pancreatic disease
Q27676497Long-range Electrostatic Complementarity Governs Substrate Recognition by Human Chymotrypsin C, a Key Regulator of Digestive Enzyme Activation
Q97548636Loss of chymotrypsin-like protease (CTRL) alters intrapancreatic protease activation but not pancreatitis severity in mice
Q35837145Mesotrypsin Signature Mutation in a Chymotrypsin C (CTRC) Variant Associated with Chronic Pancreatitis.
Q52579674Mutations in the pancreatic secretory enzymes CPA1 and CPB1 are associated with pancreatic cancer.
Q38900762New insights into the pathways initiating and driving pancreatitis.
Q48153726No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort
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
Q57154534Recurrent Acute Pancreatitis: Current Concepts in the Diagnosis and Management
Q34400723Risk factors for pancreatic cancer: underlying mechanisms and potential targets
Q42145402Robust autoactivation, chymotrypsin C independence and diminished secretion define a subset of hereditary pancreatitis-associated cationic trypsinogen mutants.
Q35565390The Common Chymotrypsinogen C (CTRC) Variant G60G (C.180T) Increases Risk of Chronic Pancreatitis But Not Recurrent Acute Pancreatitis in a North American Population.
Q38090903The role of protein synthesis and digestive enzymes in acinar cell injury
Q37540036Variants in CPA1 are strongly associated with early onset chronic pancreatitis
Q36174524Variants in pancreatic carboxypeptidase genes CPA2 and CPB1 are not associated with chronic pancreatitis

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