Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis
about
A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutationsHereditary pancreatitis: current perspectivesChymotrypsin C mutations in chronic pancreatitis.Mutational screening of the cationic trypsinogen gene in a large cohort of subjects with idiopathic chronic pancreatitisTransgenic expression of pancreatic secretory trypsin inhibitor-1 rescues SPINK3-deficient mice and restores a normal pancreatic phenotypeA 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 patientsAblation of huntingtin in adult neurons is nondeleterious but its depletion in young mice causes acute pancreatitis.Role of CCK/gastrin receptors in gastrointestinal/metabolic diseases and results of human studies using gastrin/CCK receptor agonists/antagonists in these diseases.Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis.Connections between genetics and clinical data: Role of MCP-1, CFTR, and SPINK-1 in the setting of acute, acute recurrent, and chronic pancreatitis.High Prevalence of Serine Protease Inhibitor Kazal Type 1 Gene Variations Detected by Whole Gene Sequencing in Patients with Fibrocalculous Pancreatic Diabetes.Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway.Lack of association between UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms and pancreatic cancer in Italian patients.Genetics of acute and chronic pancreatitis: An update.Mutations of the serine protease inhibitor, Kazal type 1 gene, in patients with idiopathic chronic pancreatitis.Chronic pancreatitis and cystic fibrosis.Genetic risk for alcoholic chronic pancreatitisThe genetic predisposition and its impact on the diabetes mellitus development in patients with alcoholic chronic pancreatitis.Assessing the pathological relevance of SPINK1 promoter variants.The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease.Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis.Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis.Value of genetic testing in the management of pancreatitisIs Post-ERCP Pancreatitis a Genetically Predisposed Complication?SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinentSignal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitisA review of animal models of nonneoplastic pancreatic diseases.Functional significance of SPINK1 promoter variants in chronic pancreatitis.SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes.Detection of oncogenes in chronic pancreatitis.Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients.Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis.Presence of SPINK-1 variant alters the course of chronic pancreatitis.Chronic parotitis: not another SPINKosis.Pancreatitis risk in primary hyperparathyroidism: relation to mutations in the SPINK1 trypsin inhibitor (N34S) and the cystic fibrosis gene.An immunocapture-LC-MS-based assay for serum SPINK1 allows simultaneous quantification and detection of SPINK1 variants.Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.Changing phenotype and disease behaviour of chronic pancreatitis in India: evidence for gene-environment interactions.Bull’s-eye pattern of pancreatic-duct stones on multidetector computed tomography and gene-mutation-associated pancreatitis (GMAP)
P2860
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P2860
Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis
description
2000 nî lūn-bûn
@nan
2000 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Mutational analysis of the hum ...... sporadic chronic pancreatitis
@ast
Mutational analysis of the hum ...... sporadic chronic pancreatitis
@en
Mutational analysis of the hum ...... sporadic chronic pancreatitis
@nl
type
label
Mutational analysis of the hum ...... sporadic chronic pancreatitis
@ast
Mutational analysis of the hum ...... sporadic chronic pancreatitis
@en
Mutational analysis of the hum ...... sporadic chronic pancreatitis
@nl
prefLabel
Mutational analysis of the hum ...... sporadic chronic pancreatitis
@ast
Mutational analysis of the hum ...... sporadic chronic pancreatitis
@en
Mutational analysis of the hum ...... sporadic chronic pancreatitis
@nl
P2093
P3181
P356
P1476
Mutational analysis of the hum ...... sporadic chronic pancreatitis
@en
P2093
P3181
P356
10.1136/JMG.37.1.67
P407
P577
2000-01-01T00:00:00Z