Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation.
about
Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitisHereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanismGenetics of pancreatitisChymotrypsin C mutations in chronic pancreatitis.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 patientsMolecular dynamics simulations reveal structural instability of human trypsin inhibitor upon D50E and Y54H mutations.Cigarette smoke-induced pancreatic damage: experimental data.Pancreatitis-associated chymotrypsinogen C (CTRC) mutant elicits endoplasmic reticulum stress in pancreatic acinar cellsGenetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway.PRSS1 and SPINK1 mutations in idiopathic chronic and recurrent acute pancreatitisIntracellular activation of trypsinogen in transgenic mice induces acute but not chronic pancreatitis.Assessing the pathological relevance of SPINK1 promoter variants.Pathogenic cellular role of the p.L104P human cationic trypsinogen variant in chronic pancreatitisMinigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis.Pathogenesis of chronic pancreatitis: a comprehensive update and a look into the future.Genetics of pancreatitis: a guide for clinicians.Role of Intrapancreatic SPINK1/Spink3 Expression in the Development of PancreatitisInvolvement of inflammatory factors in pancreatic carcinogenesis and preventive effects of anti-inflammatory agents.Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype.Genetic risk in chronic pancreatitis: the misfolding-dependent pathwayFunctional significance of SPINK1 promoter variants in chronic pancreatitis.Uses and misuses of progress curve analysis in enzyme kinetics.Exonic variants affecting pre-mRNA splicing add to genetic burden in chronic pancreatitis.SPINK1, ADH2, and ALDH2 gene variants and alcoholic chronic pancreatitis in Japan.Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene Assay.An immunocapture-LC-MS-based assay for serum SPINK1 allows simultaneous quantification and detection of SPINK1 variants.Do genetic variants in the SPINK1 gene affect the level of serum PSTI?Pancreatic Cancer Cell Lines Heterozygous for the SPINK1 p.N34S Haplotype Exhibit Diminished Expression of the Variant Allele.
P2860
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P2860
Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Missense mutations in pancreat ...... lar retention and degradation.
@en
type
label
Missense mutations in pancreat ...... lar retention and degradation.
@en
prefLabel
Missense mutations in pancreat ...... lar retention and degradation.
@en
P2860
P356
P1433
P1476
Missense mutations in pancreat ...... lar retention and degradation.
@en
P2093
Orsolya Király
Thomas Wartmann
P2860
P304
P356
10.1136/GUT.2006.115725
P407
P577
2007-05-24T00:00:00Z