SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis

Gastroenterology

Volumn 119, Issue 3, 2000, Pages 615-623

  Pfützer, Roland H ^a   Barmada, M Michael ^b   Brunskill, Andrew P J ^b,c   Finch, Robert ^a,b   Hart, P Suzanne ^a,b   Neoptolemos, John ^d   Furey, William F ^b,c   Whitcomb, David C ^a,b,c  

^a UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF PITTSBURGH   (United States)

^c VETERANS AFFAIRS MEDICAL CENTER   (United States)

^d UNIVERSITY OF LIVERPOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

TRYPSINOGEN;

AMINO ACID SEQUENCE; ARTICLE; CHRONIC PANCREATITIS; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC LINKAGE; GENETIC RISK; HUMAN; IDIOPATHIC DISEASE; INCIDENCE; MAJOR CLINICAL STUDY; MALE; MOLECULAR MODEL; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0033857452     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1053/gast.2000.18017     Document Type: Article

References (42)

1. Hereditary pancreatitis
2. Hereditary pancreatitis: New insights into acute and chronic pancreatitis
3. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene
4. Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis
5. A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis
6. Early trypsinogen activation in acute pancreatitis
7. Hereditary pancreatitis-associated mutation asn(21) → ile stabilizes rat trypsinogen in vitro
8. Mutations of the activation peptide of cationic trypsinogen may lead to chronic pancreatitis by facilitated activation of trypsinogen to trypsin
9. A possible zymogen self-destruct mechanism preventing pancreatic autodigestion
10. Two mutations in rat trypsin confer resistance against autolysis
11. Pancreatic secretory enzymes
12. Heterogeneity in hereditary pancreatitis
13. Mutations of the cationic trypsinogen gene in patients with chronic pancreatitis
14. Evidence for further mutations of the cationic trypsinogen in hereditary pancreatitis
15. Screening for a point mutation of cationic trypsinogen in patients with pancreatic disease
16. Molecular pathogenesis of chronic pancreatitis associated with abnormal CFTR genotypes
17. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis
18. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis
19. A new hereditary pancreatitis gene maps to chromosome 12p
20. Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis
21. Recommendations for a nomenclature system for human gene mutations
22. Mutations in the gene encoding the serine protease inhibitor, kazal type I are associated with chronic pancreatitis
23. Genetic testing: Counseling, laboratory and regulatory issues and the EUROPAC protocol for ethical research in multi-center studies of inherited pancreatic diseases
24. Motivations and concerns of patients with access to genetic testing for hereditary pancreatitis
25. PedCheck: A program for identification of genotype incompatibilities in linkage analysis
26. The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recording and fuzzy inheritance
27. Parametric and nonparametric linkage analysis: A unified multipoint approach
28. Basic local alignment search tool
29. PowerBLAST: A new network BLAST application for interactive or automated sequence analysis and annotation
30. Three-dimensional structure of the complex between pancreatic secretory trypsin inhibitor (Kazal type) and trypsinogen at 1.8 A resolution. Structure solution, crystallographic refinement and preliminary structural interpretation
31. Three-dimensional structure of the complexes between bovine chymotrypsinogen A and two recombinant variants of human pancreatic secretory trypsin inhibitor (Kazal-type)
32. Crystal structure of human trypsin 1: Unexpected phosphorylation of Tyr151
33. Improved methods for building protein models in electron density maps and the location of errors in these models
34. Chronic pancreatitis
35. Trypsinogen mutations in chronic pancreatitis
36. The two human trypsinogens. Inhibition spectra of the two human trypsins derived from their purified zymogens
37. Three-dimensional structure of a recombinant variant of human pancreatic secretory trypsin inhibitor (Kazal type)
38. Genetic predispositions to acute and chronic pancreatitis
39. Molecular cloning and nucleotide sequence of human pancreatic secretory trypsin inhibitor (PSTI) cDNA
40. On the cDNA's for two types of rat pancreatic secretory trypsin inhibitor
41. Ribbons 2.0.J