Trypsin-1
The PRSS1 encodes trypsinogen which is secreted by the pancreas and activated in the small intestine. Mutations cause autosomal dominant hereditary pancreatitis.
Genetests:
Related Diseases:
References:
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None (1967) Hereditary chronic relapsing pancreatitis. A clue to pancreatitis in general?
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2. |
Szmola R et al. (2010) Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations.
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3. |
Chauvin A et al. (2009) Elucidation of the complex structure and origin of the human trypsinogen locus triplication.
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4. |
Kereszturi E et al. (2009) Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism.
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5. |
Felderbauer P et al. (2008) A novel A121T mutation in human cationic trypsinogen associated with hereditary pancreatitis: functional data indicating a loss-of-function mutation influencing the R122 trypsin cleavage site.
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6. |
Masson E et al. (2008) Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation.
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7. |
Le Maréchal C et al. (2006) Hereditary pancreatitis caused by triplication of the trypsinogen locus.
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8. |
Teich N et al. (2006) Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.
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9. |
Teich N et al. (2005) Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl.
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10. |
Teich N et al. (2004) Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2).
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11. |
Chen JM et al. (2003) "Loss of function" mutations in the cationic trypsinogen gene (PRSS1) may act as a protective factor against pancreatitis.
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12. |
Simon P et al. (2002) Spontaneous and sporadic trypsinogen mutations in idiopathic pancreatitis.
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13. |
Teich N et al. (2002) Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants.
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14. |
Chen JM et al. (2001) Molecular pathology and evolutionary and physiological implications of pancreatitis-associated cationic trypsinogen mutations.
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15. |
Sahin-Tóth M et al. (2000) Gain-of-function mutations associated with hereditary pancreatitis enhance autoactivation of human cationic trypsinogen.
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16. |
Chen JM et al. (2000) A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis.
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17. |
Chen JM et al. (2000) Molecular basis of hereditary pancreatitis.
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18. |
Audrézet MP et al. (2002) Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis.
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19. |
Rowen L et al. (1996) The complete 685-kilobase DNA sequence of the human beta T cell receptor locus.
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20. |
Whitcomb DC et al. (1996) Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.
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21. |
Gorry MC et al. (1997) Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis.
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22. |
Férec C et al. (1999) Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis.
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23. |
Tani T et al. (1990) Nucleotide sequence of the human pancreatic trypsinogen III cDNA.
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24. |
Emi M et al. (1986) Cloning, characterization and nucleotide sequences of two cDNAs encoding human pancreatic trypsinogens.
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25. |
Honey NK et al. (1984) Chromosomal assignments of human genes for serine proteases trypsin, chymotrypsin B, and elastase.
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26. |
Honey NK et al. (1984) Chromosomal assignments of genes for trypsin, chymotrypsin B, and elastase in mouse.
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27. |
Rinderknecht H et al. (1984) Mesotrypsin: a new inhibitor-resistant protease from a zymogen in human pancreatic tissue and fluid.
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28. |
MacDonald RJ et al. (1982) Two similar but nonallelic rat pancreatic trypsinogens. Nucleotide sequences of the cloned cDNAs.
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29. |
Scheele G et al. (1981) Characterization of human exocrine pancreatic proteins by two-dimensional isoelectric focusing/sodium dodecyl sulfate gel electrophoresis.
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30. |
Wiegand U et al. (1993) Cloning of the cDNA encoding human brain trypsinogen and characterization of its product.
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31. |
Sahin-Tóth M et al. (1999) Trypsinogen stabilization by mutation Arg117-->His: a unifying pathomechanism for hereditary pancreatitis?
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32. |
Chen JM et al. (2000) Origin and implication of the hereditary pancreatitis-associated N21I mutation in the cationic trypsinogen gene.
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33. |
NCBI article
NCBI 5644
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34. |
OMIM.ORG article
Omim 276000
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35. |
Orphanet article
Orphanet ID 118080
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36. |
Wikipedia article
Wikipedia EN (Trypsin_1)
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Update: Aug. 14, 2020