R116C mutation of cationic trypsinogen in a Turkish family with recurrent pancreatitis illustrates genetic microheterogeneity of hereditary pancreatitis

Digestion

Volumn 64, Issue 4, 2001, Pages 226-232

  Tautermann, G ^a   Ruebsamen, H ^b   Beck, M ^b   Dertinger, S ^a   Drexel, H ^a   Lohse, P ^b  

^a Landeskrankenhaus Feldkirch   (Austria)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

Autosomal dominant genetic disorder; Chronic pancreatic disease; Gain of function mutation; Pancreas; Pathophysiology, pancreatic disease; Zymogen inactivation

Indexed keywords

TRYPSINOGEN;

ACINAR CELL; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHRONIC PANCREATITIS; CONTROLLED STUDY; DISEASE TRANSMISSION; DNA DETERMINATION; DNA SEQUENCE; EXON; FEMALE; GENE MUTATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HUMAN CELL; IDIOPATHIC DISEASE; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RECURRENT INFECTION; SEQUENCE ANALYSIS; TURKEY (REPUBLIC);

ADULT; ARGININE; CHRONIC DISEASE; CYSTEINE; EXONS; GERMANY; HUMANS; MALE; PANCREATITIS; POINT MUTATION; POLYMERASE CHAIN REACTION; RECURRENCE; SEQUENCE ANALYSIS, DNA; TRYPSINOGEN; TURKEY;

EID: 0035714189     PISSN: 00122823     EISSN: None     Source Type: Journal    
DOI: 10.1159/000048866     Document Type: Article

References (35)

1. Hereditary pancreatitis: New insights into acute and chronic pancreatitis
2. Hereditary pancreatitis: Gene defects and their implications
3. Hereditary pancreatitis and mutations of the cationic trypsinogen gene
4. Genetic predisposition to acute and chronic pancreatitis
5. Risk factors for cancer in hereditary pancreatitis
6. Pedigree of a family with hereditary chronic relapsing pancreatitis
7. Familial chronic pancreatitis in identical twins: Case report and review of the literature
8. Clinical characteristics of hereditary pancreatitis in a large family, based on high-risk haplotype
9. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene
10. Mutations of the cationic trypsinogen in hereditary pancreatitis
11. Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis
12. Mutations in exons 2 and 3 of the cationic trypsinogen gene in Japanese families with hereditary pancreatitis
13. Mutations of the cationic trypsinogen gene in patients with hereditary pancreatitis
14. A gene for hereditary pancreatitis maps to chromosome 7q35
15. The hereditary pancreatitis gene maps to long arm of chromosome 7
16. The complete 685-kilobase DNA sequence of the human beta T cell receptor locus
17. Cloning, characterization and nucleotide sequences of two cDNAs encoding human pancreatic trypsinogens
18. Nucleotide sequence of the human pancreatic trypsinogen III cDNA
19. Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis
20. A signal peptide cleavage mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis
21. Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation
22. Mutational screening of the cationic trypsinogen gene in a large cohort of subjects with idiopathic chronic pancreatitis
23. Chronic pancreatitis
24. Hereditäre Pankreatitis
25. Mutations of the cationic trypsinogen gene in patients with chronic pancreatitis
26. Protein inhibitors of proteinases
27. Molecular cloning and nucleotide sequence of human pancreatic secretory trypsin inhibitor (PSTI) cDNA
28. Activation of pancreatic zymogens: Normal activation, premature intrapancreatic activation, protective mechanisms against inappropriate activation
29. Limited proteolyses in pancreatic chymotrypsinogens and trypsinogens
30. Pancreatic secretory enzymes
31. The structure and function of pancreatic enzymes
32. Modeling studies of the change in conformation required for cleavage of limited proteolytic sites
33. Gain-of-function mutations associated with hereditary pancreatitis enhance autoactivation of human cationic trypsinogen
34. Prediction of chain flexibility in proteins