The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease

Gut

Volumn 50, Issue 5, 2002, Pages 675-681

  Threadgold, J ^a   Greenhalf, W ^a   Ellis, I ^b   Howes, N ^a   Lerch, M M ^c   Simon, P ^c   Jansen, J ^d   Charnley, R ^e   Laugier, R ^f   Frulloni, L ^g   Olah A ^h   Delhaye, M ⁱ   Ihse, I ^j   Schaffalitzky de Muckadell, O B ^k   Andren Sandberg A ^h   Imrie, C W ^h   Martinek, J ^h   Gress, T M ^h   Mountford, R ^h   Whitcomb, D ^h   Neoptolemos, J P ^a   more..

^a UNIVERSITY OF LIVERPOOL   (United Kingdom)

^b ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^c UNIVERSITY OF MÜNSTER   (Germany)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e FREEMAN HOSPITAL   (United Kingdom)

^f TIMONE HOSPITAL   (France)

^g Policlinico GB Rossi   (Italy)

^h Sebészeti Osztàly ^*

ⁱ ERASME HOSPITAL   (Belgium)

^j LUND UNIVERSITY HOSPITAL   (Sweden)

^k ODENSE UNIVERSITY HOSPITAL   (Denmark)

more..

Author keywords

[No Author keywords available]

Indexed keywords

TRYPSIN INHIBITOR;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHRONIC PANCREATITIS; DISEASE ASSOCIATION; FAMILIAL DISEASE; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENE SEGREGATION; GENETIC PREDISPOSITION; HUMAN; HYDROLYSIS; IDIOPATHIC DISEASE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL;

ADULT; AGE OF ONSET; AGED; CHRONIC DISEASE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PANCREATITIS; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROGNOSIS; REGISTRIES; TRYPSIN INHIBITOR, KAZAL PANCREATIC;

EID: 0036102601     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.50.5.675     Document Type: Article

References (36)

1. Hereditary pancreatitis
2. Hereditary pancreatitis: New insights into acute and chronic pancreatitis
3. Chronic pancreatitis
4. Hereditary pancreatitis and familial pancreatic cancer
5. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene
6. Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis
7. Mutations in the cationic trypsinogen gene and evidence for heterogeneity in hereditary pancreatitis
8. Role of asn-21 in zymogen activation and implications in hereditary pancreatitis
9. Trypsinogen stabilization by mutation Arg1176His: A unifying pathomechanism for hereditary pancreatitis?
10. High-affinity Ca(2+) binding inhibits autoactivation of rat trypsinogen
11. A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis
12. Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis
13. Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation
14. Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis
15. The different courses of early- and late-onset idiopathic and alcoholic chronic pancreatitis
16. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis
17. Primary structure of human pancreatic secretory trypsin inhibitor (SPINK1) gene
18. The primary structure of the human pancreatic secretory trypsin inhibitor. Amino acid sequence of the reduced S-aminoethylated protein
19. Pancreatic secretory enzymes
20. Mutational analysis of the human pancreatic secretory trypsin inhibitor (SPINK1) gene in hereditary and sporadic chronic pancreatitis
21. SPINK1/SPINK1 polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis
22. SPINK1 mutations in chronic pancreatitis
23. Mutations of the pancreatic secretory trypsin inhibitor (PSTI) gene in idiopathic chronic pancreatitis
24. SPINK1 mutations in chronic pancreatitis
25. Chronic pancreatitis: Diagnosis, classification and new genetic developments
26. A new polymorphism for the R122H mutation in hereditary pancreatitis
27. Chronic pancreatitis
28. Genetic testing for hereditary pancreatitis: Guidelines for indications, counselling, consent and privacy issues
29. Protein inhibitors of proteinases
30. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis
31. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis
32. Polyvariant mutant CFTR genes in patients with chronic pancreatitis
33. Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis
34. Mutation in the SPINK1 trypsin inhibitor gene, alcohol use and chronic pancreatitis
35. SPINK1 mutations are associated with multiple phenotypes
36. Gene mutations in children with chronic pancreatitis