Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.
about
Hereditary pancreatitis: current perspectivesLong-range Electrostatic Complementarity Governs Substrate Recognition by Human Chymotrypsin C, a Key Regulator of Digestive Enzyme ActivationA 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.Risk factors for pancreatic cancer: underlying mechanisms and potential targets.Genetic and phenotypic heterogeneity in tropical calcific pancreatitisEndoplasmic reticulum stress promotes amyloid-beta peptides production in RGC-5 cells.The Common Chymotrypsinogen C (CTRC) Variant G60G (C.180T) Increases Risk of Chronic Pancreatitis But Not Recurrent Acute Pancreatitis in a North American Population.Mesotrypsin Signature Mutation in a Chymotrypsin C (CTRC) Variant Associated with Chronic Pancreatitis.Variants in pancreatic carboxypeptidase genes CPA2 and CPB1 are not associated with chronic pancreatitis.CTRC gene polymorphism (p.G60=; c.180 C > T) in acute pancreatitis.Pathogenic cellular role of the p.L104P human cationic trypsinogen variant in chronic pancreatitisFunctional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.Genetic risk factors for pancreatic disorders.PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic PancreatitisVariants in CPA1 are strongly associated with early onset chronic pancreatitis.Insights into the genetic risk factors for the development of pancreatic disease.Association of CTRC and SPINK1 gene variants with recurrent hospitalizations for pancreatitis or acute abdominal pain in lipoprotein lipase deficiencyThe role of protein synthesis and digestive enzymes in acinar cell injury.Paediatric pancreatitis.New insights into the pathways initiating and driving pancreatitis.Genetic risk in chronic pancreatitis: the misfolding-dependent pathwayRobust autoactivation, chymotrypsin C independence and diminished secretion define a subset of hereditary pancreatitis-associated cationic trypsinogen mutants.A Carboxyl Ester Lipase (CEL) Mutant Causes Chronic Pancreatitis by Forming Intracellular Aggregates That Activate Apoptosis.No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort.Genetic Polymorphisms: A Novel Perspective on Acute Pancreatitis.Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitis.Chronic pancreatitis.Mutations in the pancreatic secretory enzymes CPA1 and CPB1 are associated with pancreatic cancer.
P2860
Q26739600-757BB48C-860F-4B66-A967-3B0DF6FA9997Q27676497-6B9E7D9D-5FBC-4B80-833E-9DE946C87400Q30000783-D18C2C64-16F8-429A-9A4C-8E8BEF04D491Q33843764-36BBD813-B2AA-4A7B-BE73-9FF27A14D896Q34400723-F02AEDB6-F4F2-475C-A4B4-0712C2220C50Q34667122-0122F9D3-5DEA-4AD7-B55D-F65735AA89B3Q35319462-913F50D3-8287-42A2-AADF-CD24D03E0EF4Q35565390-F9A6DD6B-CF14-4781-8B6C-4C5C54BB22AEQ35837145-92CB9D76-B1DC-462C-AF61-DD58DD0C4027Q36174524-523C13BA-9697-464D-AA5D-C2895D28D545Q36251687-47C4C54B-B1DF-4347-9399-F2247117C986Q36775826-1BA88623-5964-4BAE-98BF-C449FF8510C2Q36927073-8A42793C-09F6-4979-9E2A-46C51C8FFCF0Q36933359-601FDCFB-0ECC-48CF-B97D-931F9F83FEFBQ37231509-BCBBF6A7-BDD0-4DCD-84A1-226B6B3ED97FQ37540036-2A31935C-D86D-41BC-9FE9-A709D3073FF9Q37638790-97612C8F-29BF-4ABC-9B89-9E4FCE398385Q37725572-963BACDF-76ED-41EF-B410-D40A167F5487Q38090903-DD510915-5FA7-41AE-BD2B-C040A10D9615Q38548458-FD8EADF6-402F-42DC-A317-633B4A9ACE8DQ38900762-DC3BA743-3FA5-4FCB-9E70-2A58275E1CBAQ39398523-0345D744-D5A1-496C-9641-187E36E5427EQ42145402-4A358E36-3E7B-46D4-8649-A1BCBDD4B289Q42725781-AC6FDB84-9CA3-46E8-AD4C-FB270C875274Q48153726-75B41C5B-A520-4037-850C-094F32A3C3E4Q48247460-41DC3D30-E788-4BD2-9243-2028ACF574AFQ48271163-46104376-C82E-41C4-BFF3-66B0F022CDCEQ52519464-57D3AFE9-15BF-4CB9-B564-1A6E220F274CQ52579674-FD99B204-5317-423A-AA20-2A5D66C6E679
P2860
Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
Comprehensive functional analy ...... ciated with pancreatitis risk.
@en
type
label
Comprehensive functional analy ...... ciated with pancreatitis risk.
@en
prefLabel
Comprehensive functional analy ...... ciated with pancreatitis risk.
@en
P2093
P2860
P1433
P1476
Comprehensive functional analy ...... ciated with pancreatitis risk.
@en
P2093
András Szabó
Giriraj Ratan Chandak
Heiko Witt
Jiayi Zhou
Miklós Sahin-Tóth
Sebastian Beer
Steven Keiles
P2860
P304
P356
10.1136/GUTJNL-2012-303090
P407
P577
2012-09-01T00:00:00Z