PRSS1

Summary

Gene Symbol: PRSS1
Description: protease, serine 1
Alias: TRP1, TRY1, TRY4, TRYP1, trypsin-1, TCR V beta 4.1, beta-trypsin, cationic trypsinogen, digestive zymogen, nonfunctional trypsin 1, trypsinogen 1, trypsinogen A
Species: human

Top Publications

  1. doi Urinary matrix metalloproteinase -8, -9, -14 and their regulators (TRY-1, TRY-2, TATI) in patients with diabetic nephropathy
    Anneli Lauhio
    Helsinki University Central Hospital, Department of Medicine, Division of Infectious Diseases, Helsinki, Finland
    Ann Med 40:312-20. 2008
  2. ncbi Crystal structure of human trypsin 1: unexpected phosphorylation of Tyr151
    C Gaboriaud
    Laboratoire de Cristallographie et Cristallogenese des Proteines, Institut de Biologie Structurale Jean Pierre Ebel CEA CNRS, Grenoble, France
    J Mol Biol 259:995-1010. 1996
  3. ncbi Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene
    D C Whitcomb
    Dept of Medicine, University of Pittsburgh School of Medicine, Pennsylvania 15261, USA
    Nat Genet 14:141-5. 1996
  4. ncbi Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis
    M C Gorry
    Department of Medicine, University of Pittsburgh, Pennsylvania, USA
    Gastroenterology 113:1063-8. 1997
  5. ncbi A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis
    H Witt
    Institute of Laboratory Medicine and Pathobiochemistry, Charite Virchow Hospital, Humboldt University, Berlin, Germany
    Gastroenterology 117:7-10. 1999
  6. ncbi Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis
    H Witt
    Department of Pediatrics, Charite, Campus Virchow Klinikum, Humboldt University, Berlin, Germany
    Nat Genet 25:213-6. 2000
  7. ncbi Tropical calcific pancreatitis: strong association with SPINK1 trypsin inhibitor mutations
    Eesh Bhatia
    Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Gastroenterology 123:1020-5. 2002
  8. ncbi 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
    Francesco Perri
    Division of Gastroenterology, Casa Sollievo della Sofferenza Hospital, IRCCS, 71013 San Giovanni Rotondo 1, Italy
    Eur J Hum Genet 11:687-92. 2003
  9. ncbi CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients
    Andrea L Ferreira Bernardino
    Human Genome Research Center, University of Sao Paulo, Sao Paulo, Brazil
    JOP 4:169-77. 2003
  10. ncbi Clinical and genetic characteristics of hereditary pancreatitis in Europe
    Nathan Howes
    Department of Surgery, University of Liverpool, United Kingdom
    Clin Gastroenterol Hepatol 2:252-61. 2004

Research Grants

  1. Miklos Sahin-Toth; Fiscal Year: 2016
  2. Ashok K Saluja; Fiscal Year: 2015
  3. Models of Type 1 and Type II Hereditary Pancreatitis
    CHARLES ULRICH; Fiscal Year: 2002
  4. Role of Intra-Pancreatic Trypsinogen Activation in Alcoholic Pancreatitis
    Rajinder K Dawra; Fiscal Year: 2013
  5. Genetic Epidemiology of Young-Onset Pancreatic Cancer
    Robert R McWilliams; Fiscal Year: 2010
  6. Michael Steer; Fiscal Year: 2015
  7. KAREN TARASZKA HASTINGS; Fiscal Year: 2015
  8. Brooke Anderson-White; Fiscal Year: 2014
  9. Lu Lu; Fiscal Year: 2014
  10. Targeting HSP70 in autoimmune vitiligo
    ISABELLE CAROLINE LE POOLE; Fiscal Year: 2012

Detail Information

Publications217 found, 100 shown here

  1. doi Urinary matrix metalloproteinase -8, -9, -14 and their regulators (TRY-1, TRY-2, TATI) in patients with diabetic nephropathy
    Anneli Lauhio
    Helsinki University Central Hospital, Department of Medicine, Division of Infectious Diseases, Helsinki, Finland
    Ann Med 40:312-20. 2008
    ..Our findings suggest that a trypsin-MMP cascade is involved in the pathogenesis of DNP, which may offer new possibilities for diagnosis and treatment of DNP with MMP inhibitors...
  2. ncbi Crystal structure of human trypsin 1: unexpected phosphorylation of Tyr151
    C Gaboriaud
    Laboratoire de Cristallographie et Cristallogenese des Proteines, Institut de Biologie Structurale Jean Pierre Ebel CEA CNRS, Grenoble, France
    J Mol Biol 259:995-1010. 1996
    The X-ray structure of human trypsin 1 has been determined in the presence of diisopropyl-phosphofluoridate by the molecular replacement method and refined at a resolution of 2.2 A to an R-factor of 18%...
  3. ncbi Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene
    D C Whitcomb
    Dept of Medicine, University of Pittsburgh School of Medicine, Pennsylvania 15261, USA
    Nat Genet 14:141-5. 1996
    ..We now report that an Arg-His substitution at residue 117 of the cationic trypsinogen gene is associated with the HP phenotype...
  4. ncbi Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis
    M C Gorry
    Department of Medicine, University of Pittsburgh, Pennsylvania, USA
    Gastroenterology 113:1063-8. 1997
    We recently identified a single R117H mutation in the cationic trypsinogen gene in several kindreds with an inherited form of acute and chronic pancreatitis (HP1), providing strong evidence that trypsin plays a central role in premature ..
  5. ncbi A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis
    H Witt
    Institute of Laboratory Medicine and Pathobiochemistry, Charite Virchow Hospital, Humboldt University, Berlin, Germany
    Gastroenterology 117:7-10. 1999
    ..Recently, two mutations of the cationic trypsinogen gene were found in families with hereditary pancreatitis...
  6. ncbi Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis
    H Witt
    Department of Pediatrics, Charite, Campus Virchow Klinikum, Humboldt University, Berlin, Germany
    Nat Genet 25:213-6. 2000
    ..Several studies have demonstrated mutations in the cationic trypsinogen gene (PRSS1) in patients with hereditary or idiopathic CP...
  7. ncbi Tropical calcific pancreatitis: strong association with SPINK1 trypsin inhibitor mutations
    Eesh Bhatia
    Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Gastroenterology 123:1020-5. 2002
    ..In the present study we report on mutations in the serine protease inhibitor, Kazal type 1 (SPINK1) gene in north Indian patients with TCP...
  8. ncbi 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
    Francesco Perri
    Division of Gastroenterology, Casa Sollievo della Sofferenza Hospital, IRCCS, 71013 San Giovanni Rotondo 1, Italy
    Eur J Hum Genet 11:687-92. 2003
    Susceptibility to alcoholic chronic pancreatitis (ACP) could be genetically determined. Mutations in cationic trypsinogen (PRSS1), cystic fibrosis transmembrane conductance regulator (CFTR), and serine protease inhibitor, Kazal type 1 (..
  9. ncbi CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients
    Andrea L Ferreira Bernardino
    Human Genome Research Center, University of Sao Paulo, Sao Paulo, Brazil
    JOP 4:169-77. 2003
    Mutations in cystic fibrosis transmembrane conductance regulator (CFTR), in cationic trypsinogen (PRSS1) and in serine protease inhibitor Kazal type 1 (SPINK1) genes have been associated with chronic pancreatitis (alcohol related, ..
  10. ncbi Clinical and genetic characteristics of hereditary pancreatitis in Europe
    Nathan Howes
    Department of Surgery, University of Liverpool, United Kingdom
    Clin Gastroenterol Hepatol 2:252-61. 2004
    Hereditary pancreatitis is an autosomal dominant disease that is mostly caused by cationic trypsinogen (PRSS1) gene mutations. The aim was to determine phenotype-genotype correlations of families in Europe.
  11. pmc Human cationic trypsinogen is sulfated on Tyr154
    Miklos Sahin-Toth
    Department of Molecular and Cell Biology, Boston University, Goldman School of Dental Medicine, Boston, MA, USA
    FEBS J 273:5044-50. 2006
    ..Furthermore, incorporation of [(35)S]SO(4) into human cationic trypsinogen transiently expressed by human embryonic kidney 239T cells was demonstrated...
  12. ncbi Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis
    Emmanuelle Masson
    Institut National de la Sante et de la Recherche Medicale INSERM, U613, Brest, France
    Clin Gastroenterol Hepatol 6:82-8. 2008
    ..reported that the triplication of a approximately 605 kilobase segment containing the PRSS1 (encoding cationic trypsinogen) and PRSS2 (encoding anionic trypsinogen) genes causes hereditary pancreatitis...
  13. doi The natural history of hereditary pancreatitis: a national series
    V Rebours
    Pôle des Maladies de l Appareil Digestif, Service de Gastroentérologie Pancréatologie, APHP, Hopital Beaujon, Clichy Cedex, France
    Gut 58:97-103. 2009
    ..The prevalence and natural history of hereditary pancreatitis (HP) remain poorly documented. The aims of this study were to assess genetic, epidemiological, clinical and morphological characteristics of HP in an extensive national survey...
  14. doi High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitis
    Yeoun Joo Lee
    Department of Pediatrics, Asan Medical Center Children s Hospital, University of Ulsan College of Medicine, Seoul, Korea
    J Pediatr Gastroenterol Nutr 52:478-81. 2011
    We evaluated the frequencies and clinical consequences of mutations in the genes encoding cationic trypsinogen, serine protease 1 (PRSS1), and serine protease inhibitor Kazal type 1 (SPINK1) in children with acute recurrent pancreatitis (..
  15. doi CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?
    Jonas Rosendahl
    Department for Paediatrics and Else Kröner Fresenius Zentrum EKFZ, Technical University Munich TUM, Gregor Mendel Str 2, 85350 Freising, Germany
    Gut 62:582-92. 2013
    ..In chronic pancreatitis (CP), alterations in several genes have so far been described, but only small cohorts have been extensively investigated for all predisposing genes...
  16. doi Screening of R122H and N29I mutations in the PRSS1 gene and N34S mutation in the SPINK1 gene in Mexican pediatric patients with acute and recurrent pancreatitis
    Carmen A Sánchez-Ramírez
    Centro Universitario de Investigaciones Biomédicas y Facultad de Medicina, Universidad de Colima, Colima, Mexico
    Pancreas 41:707-11. 2012
    The study's objective was to assess the association between the PRSS1 R122H and N29I and the SPINK1 N34S mutations and acute pancreatitis (AP) and recurrent pancreatitis in Mexican pediatric patients.
  17. pmc Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis
    C Ferec
    Centre de Biogenetique, University Hospital ETSBO, Brest, France
    J Med Genet 36:228-32. 1999
    ..Our findings confirm the implication of the cationic trypsinogen gene in HP and highlight allelic diversity associated with this phenotype...
  18. ncbi Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation
    N Teich
    Medizinische Klinik II, Universitat Leipzig, Leipzig, Germany
    Gastroenterology 119:461-5. 2000
    Mutations of the cationic trypsinogen have been described in hereditary pancreatitis. We report a new trypsinogen mutation in the activation peptide of the proenzyme in a family with chronic pancreatitis.
  19. ncbi Mutations of the cationic trypsinogen gene in hereditary and non-hereditary pancreatitis
    D A O'Reilly
    Department of Surgery, Derriford Hospital and University of Plymouth, UK
    Digestion 64:54-60. 2001
    Mutations in the cationic trypsinogen gene have been detected in patients with hereditary pancreatitis (HP)...
  20. ncbi Identification of a novel pancreatitis-associated missense mutation, R116C, in the human cationic trypsinogen gene (PRSS1)
    C Le Marechal
    INSERM EMI 01 15, Génétique Moléculaire et Génétique Epidémiologique, Établissement Français du sang Bretagne, Universite de Bretagne Occidentale, Centre Hospitalier Universitaire, 46 rue Félix Le Dantec, 29275 Brest, France
    Mol Genet Metab 74:342-4. 2001
    Over the past 5 years, several gain-of-function missense mutations in the human cationic trypsinogen gene (PRSS1, OMIM 276000) have been associated with hereditary and/or sporadic pancreatitis...
  21. ncbi Hereditary pancreatitis caused by a novel PRSS1 mutation (Arg-122 --> Cys) that alters autoactivation and autodegradation of cationic trypsinogen
    Peter Simon
    Medizinische Klinik B, Westfalische Wilhelms Universitat, D 48129 Munster, Germany
    J Biol Chem 277:5404-10. 2002
    Hereditary pancreatitis has been found to be associated with germline mutations in the cationic trypsinogen (PRSS1) gene. Here we report a family with hereditary pancreatitis that carries a novel PRSS1 mutation (R122C)...
  22. pmc Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography
    C Le Marechal
    Inserm EMI 0115, Génétique Moléculaire et Génétique Epidémiologique, Établissement Français du sang Bretagne, Universite de Bretagne Occidentale, Centre Hospitalier Universitaire, Brest, France
    BMC Genet 2:19. 2001
    R122, the primary autolysis site of the human cationic trypsinogen (PRSS1), constitutes an important "self-destruct" or "fail-safe" defensive mechanism against premature trypsin activation within the pancreas...
  23. pmc Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis
    R Pfutzer
    Department of Medicine, University of Pittsburgh, Pittsburgh, PA 15101, USA
    Gut 50:271-2. 2002
    Hereditary pancreatitis (HP) is usually caused by mutations in the cationic trypsinogen (PRSS1) gene, especially R122H or N29I. We sequenced the PRSS1 gene in the proband of families without these common mutations...
  24. ncbi Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants
    Niels Teich
    Medizinische Klinik und Poliklinik II, Universitatsklinikum Leipzig, Germany
    Am J Gastroenterol 97:341-6. 2002
    Mutations of the cationic trypsinogen (CT) and the serine protease inhibitor, Kazal type 1 (SPINK 1) are associated with chronic pancreatitis...
  25. ncbi Evolution of trypsinogen activation peptides
    Jian Min Chen
    Institut National de la Sante et de la Recherche Medicale, Génétique Moléculaire et Génétique Epidémiologique, Universite de Bretagne Occidentale, Établissement Français du sang Bretagne, Brest, France
    Mol Biol Evol 20:1767-77. 2003
    ..D22G and K23R) were simultaneously analyzed, for the first time, in the context of recombinant human cationic trypsinogen. A dramatic increase in autoactivation of cationic trypsinogen was observed in all three mutants, with D22G ..
  26. ncbi Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2)
    Niels Teich
    Medizinische Klinik und Poliklinik II, Universitat Leipzig, Leipzig, Germany
    Hum Mutat 23:22-31. 2004
    ..To date, 19 genetic variants have been identified in the cationic trypsinogen gene (PRSS1) of patients with hereditary, familial, or sporadic chronic pancreatitis...
  27. pmc Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis
    G R Chandak
    Genome Research Group, Centre for Cellular and Molecular Biology, Hyderabad, India
    Gut 53:723-8. 2004
    Mutations in the cationic trypsinogen (protease, serine, 1 (trypsin 1); PRSS1) gene are causally associated with recurrent acute and chronic pancreatitis...
  28. ncbi Analysis of CFTR, SPINK1, PRSS1 and AAT mutations in children with acute or chronic pancreatitis
    Agnieszka Sobczynska-Tomaszewska
    Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
    J Pediatr Gastroenterol Nutr 43:299-306. 2006
    Defects of PRSS1, SPINK1, CFTR and AAT are considered causative or predisposing to pancreatitis...
  29. ncbi Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis
    Steven Keiles
    Ambry Genetics, Aliso Viejo, CA 92656, USA
    Pancreas 33:221-7. 2006
    ..It is well documented that mutations in the cationic trypsinogen (PRSS1) gene can cause hereditary pancreatitis...
  30. ncbi Novel mutation and polymorphism of PRSS1 gene in the Chinese patients with hereditary pancreatitis and chronic pancreatitis
    Qi Cai Liu
    Department of Laboratory Medicine, First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, China
    Chin Med J (Engl) 121:108-11. 2008
    Mutations in the cationic trypsinogen gene (PRSS1) have been detected in patients with hereditary pancreatitis (HP). This study investigated the prevalence of the R122H (c.365 G > A), A121T (c.361 G > A) and D162D (c...
  31. doi Genetic mutations in a Spanish population with chronic pancreatitis
    Josefina Mora
    Department of Clinical Chemistry, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Pancreatology 9:644-51. 2009
    Mutations in the PRSS1 and the SPINK1 genes have variably been associated with alcohol-related, idiopathic and hereditary chronic pancreatitis (CP)...
  32. doi The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families
    Christopher J Grocock
    School of Cancer Studies, University of Liverpool, UCD Building, Daulby Street, Liverpool, UK
    Gut 59:357-63. 2010
    To characterise the phenotypes associated with the p.A16V mutation of PRSS1.
  33. ncbi Tumor-derived trypsin enhances proliferation of intrahepatic cholangiocarcinoma cells by activating protease-activated receptor-2
    Shin ichi Nakanuma
    Department of Gastroenterologic Surgery, Kanazawa University Graduate School of Medical Science, Kanazawa 920 8641, Japan
    Int J Oncol 36:793-800. 2010
    ..In addition, stroma fibroblasts expressed PAR-2 in 52% of ICC specimens. These results suggest that trypsinogen-1 contributes to the growth of ICC cells and also tumor-associated fibroblasts...
  34. pmc The prevalence of cationic trypsinogen (PRSS1) and serine protease inhibitor, Kazal type 1 (SPINK1) gene mutations in Polish patients with alcoholic and idiopathic chronic pancreatitis
    Anita Gasiorowska
    Department of Digestive Tract Diseases, Medical University of Lodz, Kopcinskiego 22, 90 153, Lodz, Poland
    Dig Dis Sci 56:894-901. 2011
    ..Mutations of the PRSS1 and SPINK 1 have been mostly implicated in hereditary and idiopathic CP, but their presence in other types of this ..
  35. ncbi Mutational screening of the cationic trypsinogen gene in a large cohort of subjects with idiopathic chronic pancreatitis
    J M Chen
    Centre de Biogenetique, Universite de Bretagne Occidentale, Centre Hospitalier Universitaire and Etablissement Français Du Sang Bretagne, Brest, France
    Clin Genet 59:189-93. 2001
    Several missense mutations, including R122H, N29I, K23R, A16V and D22G, in the cationic trypsinogen gene (PRSS1), have been associated with certain forms of hereditary pancreatitis (HP)...
  36. ncbi Molecular pathology and evolutionary and physiological implications of pancreatitis-associated cationic trypsinogen mutations
    J M Chen
    INSERM EMI 01 15, Génétique Moléculaire et Génétique Epidémiologique, Établissement Français du sang Bretagne, Universite de Bretagne Occidentale, Centre Hospitalier Universitaire, 46 rue Félix Le Dantec, 29275 Brest, France
    Hum Genet 109:245-52. 2001
    Since the identification in 1996 of a "gain of function" missense mutation, R122H, in the cationic trypsinogen gene (PRSS1) as a cause of hereditary pancreatitis, continued screening of this gene in both hereditary and sporadic ..
  37. ncbi Molecular basis of hereditary pancreatitis
    J M Chen
    Centre de Biogenetique, University Hospital, EFS Bretagne, Brest, France
    Eur J Hum Genet 8:473-9. 2000
    ..Two heterozygous missense mutations, R122H (R117H) and N29I (N21I), in the cationic trypsinogen gene have been clearly associated with HP...
  38. pmc 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
    J M Chen
    J Med Genet 37:E36. 2000
  39. ncbi Expression of trypsinogen-1, trypsinogen-2, and tumor-associated trypsin inhibitor in ovarian cancer: prognostic study on tissue and serum
    Annukka Paju
    Department of Clinical Chemistry, Helsinki University Central Hospital, Helsinki, Finland
    Clin Cancer Res 10:4761-8. 2004
    ....
  40. ncbi Keratin 8 mutations are not associated with familial, sporadic and alcoholic pancreatitis in a population from the United States
    Alexander Schneider
    Department of Medicine, Division of Gastroenterology, University of Pittsburgh, Pittsburgh, PA, USA
    Pancreatology 6:103-8. 2006
    ..We determined whether mutations in the keratin 8 gene are associated with familial, sporadic and alcoholic recurrent acute or chronic pancreatitis in a population from the United States...
  41. ncbi Marked increase of trypsin(ogen) in serum of linitis plastica (gastric cancer, borrmann 4) patients
    Y Ichikawa
    Second Department of Surgery, Yokohoma City University School of Medicine, Yokohama, Japan
    Clin Cancer Res 6:1385-8. 2000
    ..Therefore, serum concentration of trypsin(ogen) might be a good marker of gastric cancer of linitis plastica...
  42. ncbi [Chronic pancreatitis--pancreas cancer: influence of genetic factors]
    V Keim
    Medizinische Klinik und Poliklinik II, Universitatsklinikum Leipzig AoR
    Praxis (Bern 1994) 94:811-7. 2005
    ..In those with a familial chronic pancreatitis mutations of the cationic trypsinogen were identified and the variants N29I and R122H lead to an autosomal dominant disease...
  43. doi Proteinase-activated receptor-2 mediates the expression of integrin alpha5 and beta1 in Helicobacter pylori-infected gastric epithelial AGS cells
    Ji Hye Seo
    Department of Pharmacology, Brain Korea 21 Project for Medical Science, Seoul, Korea
    Digestion 80:40-9. 2009
    ..pylori in a Korean isolate (HP99) induces the expression of PAR2, which mediates the expression of integrin alpha(5) and beta(1) and thus cell adhesion to fibronectin in gastric epithelial AGS cells...
  44. ncbi Genetic aspects of chronic pancreatitis: insights into aetiopathogenesis and clinical implications
    K Truninger
    Department of Medicine II, University of Freiburg, Freiburg, Germany
    Swiss Med Wkly 131:565-74. 2001
    ..Thus, gain-of-function in the cationic trypsinogen resulting in an enhanced autoactivation, or loss-of-function mutations in SPINK1 leading to decreased ..
  45. ncbi [Hereditary pancreatitis]
    Sung Koo Lee
    Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
    Korean J Gastroenterol 46:358-67. 2005
    ..are caused by one of two common mutations, R122H in the third exon or N29I in the second exon of the cationic trypsinogen gene (protease serine 1, PRSS1). R122H mutation is the most common PRSS1 mutation...
  46. pmc Hereditary pancreatitis
    Richard M Charnley
    Freeman Hospital, Newcastle upon Tyne, NE7 7DN, UK
    World J Gastroenterol 9:1-4. 2003
    ..The majority of patients with hereditary pancreatitis express one of two mutations (R122H or N29I) in the cationic trypsinogen gene (PRSS1 gene)...
  47. pmc Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls
    F U Weiss
    Department of Gastroenterology, Endocrinology and Nutrition, Ernst Moritz Arndt Universitat Greifswald, Germany
    Gut 54:1456-60. 2005
    ..The authors examine whether mild or severe CFTR mutations, homozygous or compound heterozygous CFTR mutations, or even simple cystic fibrosis carrier status alone increases the risk of developing pancreatitis...
  48. doi Chemically selective displacers for high-resolution protein separations in ion-exchange systems: effect of displacer-protein interactions
    Jia Liu
    Department of Chemical and Biological Engineering, Rensselaer Polytechnic Institute, Ricketts Building, 110 8th Street, Troy, New York 12180, USA
    Anal Chem 80:3357-64. 2008
    ..Experiments were conducted with a mixture containing ribonuclease A and alpha-chymo-trypsinogen A which exhibited very similar retention behavior under linear gradient conditions...
  49. doi Long-term nicotine exposure causes increased concentrations of trypsinogens and amylase in pancreatic extracts in the rat
    Bjorn Lindkvist
    Department of Clinical Sciences, Malmo University Hospital, Lund University, Malmo, Sweden
    Pancreas 37:288-94. 2008
    ..To develop radioimmunoassays (RIAs) for rat trypsinogens 1 and 2 and to investigate the effect of nicotine exposure on concentration and production of pancreatic zymogens in the rat...
  50. ncbi Mutations of the serine protease inhibitor, Kazal type 1 gene, in patients with idiopathic chronic pancreatitis
    Kaspar Truninger
    Department of Medicine II, University of Freiburg, Germany
    Am J Gastroenterol 97:1133-7. 2002
    ..The pathogenesis of chronic pancreatitis (CP) is poorly understood. Genetic studies revealed mutations in the cationic trypsinogen gene and an increased frequency of cystic fibrosis gene mutations in patients with CP...
  51. ncbi Mass spectrometric detection of tyrosine sulfation in human pancreatic trypsinogens, but not in tumor-associated trypsinogen
    Outi Itkonen
    Department of Clinical Chemistry, Helsinki University Central Hospital, Finland
    FEBS J 275:289-301. 2008
    ..We conclude that the previously known differences in charge, substrate specificity and inhibitor binding between pancreatic and tumor-associated trypsinogens are probably caused by sulfation of Tyr154 in pancreatic trypsinogens...
  52. ncbi Human anionic trypsinogen: properties of autocatalytic activation and degradation and implications in pancreatic diseases
    Zoltán Kukor
    Department of Molecular and Cell Biology, Goldman School of Dental Medicine, Boston University, USA
    Eur J Biochem 270:2047-58. 2003
    ..exhibited a significantly increased (10-20-fold) propensity for autocatalytic degradation, relative to cationic trypsinogen and trypsin...
  53. ncbi The course of genetically determined chronic pancreatitis
    Volker Keim
    Medizinische Klinik II, Universitatsklinikum Leipzig, Germany
    JOP 4:146-54. 2003
    The clinical course of chronic pancreatitis in patients with mutations of cationic trypsinogen and the trypsin inhibitor SPINK1 has not yet been characterized.
  54. pmc A 93 year old man with the PRSS1 R122H mutation, low SPINK1 expression, and no pancreatitis: insights into phenotypic non-penetrance
    A Khalid
    Division of Gastroenterology, Hepatology, and Nutrition, M2, C Wing, University of Pittsburgh Medical Center, Pittsburgh, PA 15213, USA
    Gut 55:728-31. 2006
    The cationic trypsinogen (PRSS1) R122H mutation causes autosomal dominant hereditary pancreatitis (HP) with multiple attacks of acute pancreatitis, but the penetrance, frequency, and severity of attacks are highly variable...
  55. ncbi Enhanced detection of cholangiocarcinoma with serum trypsinogen-2 in patients with severe bile duct strictures
    Marko Lempinen
    Clinic of Surgery, Department of Transplantation and Liver Surgery, Helsinki University Hospital, P O Box 263, FIN 00029, Helsinki, Finland
    J Hepatol 47:677-83. 2007
    ....
  56. doi Copy number variations in chronic pancreatitis
    J M Chen
    Institut National de la Sante et de la Recherche Medicale INSERM, U613, Brest, France
    Cytogenet Genome Res 123:102-7. 2008
    ..R122H, in the cationic trypsinogen gene (PRSS1) was identified...
  57. pmc Expression and characterization of trypsinogen produced in the human male genital tract
    A Paju
    Departments of Clinical Chemistry and Pathology, Helsinki University Central Hospital, Helsinki, Finland
    Am J Pathol 157:2011-21. 2000
    ..These results suggest that trypsinogen isoenzymes found in seminal fluid are produced locally in the male genital tract and that they may play a physiological role in the semen...
  58. pmc Golden gate shuffling: a one-pot DNA shuffling method based on type IIs restriction enzymes
    Carola Engler
    Icon Genetics GmbH, Biozentrum Halle, Halle, Germany
    PLoS ONE 4:e5553. 2009
    ..example, we have applied this strategy for shuffling of trypsinogen from three parental templates (bovine cationic trypsinogen, bovine anionic trypsinogen and human cationic trypsinogen) each divided in 9 separate modules...
  59. ncbi Heterogeneity in hereditary pancreatitis
    M J Dasouki
    Department of Pediatrics, Vanderbilt University, Nashville, Tennessee 37232, USA
    Am J Med Genet 77:47-53. 1998
    ..Recently, an arginine-histidine (R117H) mutation within the cationic trypsinogen gene was found in 5/5 families studied with HP...
  60. ncbi Genetic counseling for hereditary pancreatitis--the role of molecular genetics testing for the cationic trypsinogen gene, cystic fibrosis and serine protease inhibitor Kazal type 1
    Ian Ellis
    Department of Clinical Genetics, Alder Hey Children s Hospital, Eaton Road, Liverpool, L12 2AP England, UK
    Gastroenterol Clin North Am 33:839-54. 2004
    ..Because of the incomplete pickup of PRSS1 mutations, particularly of a limited mutation panel of R122H and N291 (perhaps with A16V), a diagnosis of HP ..
  61. ncbi Molecular characterization and gene expression of six trypsinogens in the flatfish Senegalese sole (Solea senegalensis Kaup) during larval development and in tissues
    Manuel Manchado
    IFAPA Centro El Toruño, Junta de Andalucia, Camino Tiro de pichón s n, 11500 El Puerto de Santa Maria, Cadiz, Spain
    Comp Biochem Physiol B Biochem Mol Biol 149:334-44. 2008
    ..into three groups: group I or anionic trypsinogens (ssetryp1a, ssetryp1b and ssetryp1c), group II or cationic trypsinogen (ssetryp2) and group III or psychrophilic trypsinogens (ssetryp3 and ssetrypY)...
  62. ncbi Relevance of variants in serum antiproteinases for the course of chronic pancreatitis
    N Teich
    Medizinische Klinik und Poliklinik II, Universitatsklinikum Leipzig, Germany
    Scand J Gastroenterol 37:360-5. 2002
    Mutations of the pancreatic serine protease inhibitor, Kazal type 1 (SPINK1), the cationic trypsinogen (PRSS1) and the cystic fibrosis transmembrane conductance regulator (CFTR) were reported to be genetic risk factors of chronic ..
  63. ncbi A mouse model of hereditary pancreatitis generated by transgenic expression of R122H trypsinogen
    Herbert Archer
    Graduate Program in Molecular and Cellular Biology, Stony Brook University, Stony Brook, New York, USA
    Gastroenterology 131:1844-55. 2006
    Missense mutations in human cationic trypsinogen PRSS1 are frequently detected in patients with hereditary pancreatitis, a rare genetic disease of the pancreas characterized by autodigestive necrosis, chronic inflammation, and fibrosis...
  64. doi Human trypsinogens in the pancreas and in cancer
    Outi Itkonen
    Hospital District of Helsinki and Uusimaa HUSLAB and Department of Clinical Chemistry, University of Helsinki, Helsinki, Finland
    Scand J Clin Lab Invest 70:136-43. 2010
    ..The previously known differences in charge and substrate binding between pancreatic and tumor-associated trypsinogens are suggested to be caused by sulfation of Tyr154 in pancreatic trypsinogens...
  65. ncbi Mutation analysis of the cystic fibrosis and cationic trypsinogen genes in patients with alcohol-related pancreatitis
    K G Monaghan
    Department of Medical Genetics, Henry Ford Hospital, Detroit, Michigan 48202, USA
    Am J Med Genet 94:120-4. 2000
    b>Cationic trypsinogen and cystic fibrosis mutations have been identified in pancreatitis patients, although no study has looked for mutations in both genes in the same patient...
  66. ncbi Mutation analysis of the cationic trypsinogen gene in patients with pancreatic cancer
    J G Hengstler
    Institute of Toxicology, University of Mainz, Germany
    Anticancer Res 20:2967-74. 2000
    Recently, an Arg to His mutation at residue 117 of the cationic trypsinogen gene (Arg117His) has been shown to be associated with hereditary pancreatitis (hp). A serious complication of hp is development of pancreatic cancer...
  67. ncbi Human trypsinogen in colorectal cancer
    S J Williams
    Cancer Metastasis Laboratory, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Int J Cancer 93:67-73. 2001
    ..To evaluate the relative contributions of 2 isoforms of TRY, TRY1 and TRY2, to total TRY mRNA expression, a semi-quantitative multiplex RT-PCR assay was developed...
  68. ncbi Enhanced invasiveness of pancreatic adenocarcinoma cells stably transfected with cationic trypsinogen cDNA
    H Tajima
    Department of Surgery II, Kanazawa University School of Medicine, Kanazawa, Japan
    Int J Cancer 94:699-704. 2001
    Various studies have described increased expression of cationic trypsinogen in malignant tumor cells...
  69. ncbi Interchromosomal segmental duplications explain the unusual structure of PRSS3, the gene for an inhibitor-resistant trypsinogen
    Lee Rowen
    Institute for Systems Biology, Seattle, Washington, USA
    Mol Biol Evol 22:1712-20. 2005
    Homo sapiens possess several trypsinogen or trypsinogen-like genes of which three (PRSS1, PRSS2, and PRSS3) produce functional trypsins in the digestive tract...
  70. ncbi Expression of mutated cationic trypsinogen reduces cellular viability in AR4-2J cells
    Sebastian Gaiser
    Medizinische Klinik und Poliklinik II, Universitatsklinikum Leipzig AoR, Ph Rosenthal Str 27, 04103 Leipzig, Germany
    Biochem Biophys Res Commun 334:721-8. 2005
    Mutations in the human cationic trypsinogen are associated with hereditary pancreatitis. The cDNA coding for human cationic trypsinogen was subcloned into the expression vector pcDNA3...
  71. ncbi Hereditary pancreatitis amlodipine trial: a pilot study of a calcium-channel blocker in hereditary pancreatitis
    Veronique D Morinville
    Department of Medicine, University of Pittsburgh, Pittsburgh, PA, USA
    Pancreas 35:308-12. 2007
    Hereditary pancreatitis (HP) is a form of recurrent acute pancreatitis (AP) mediated by mutations in cationic trypsinogen (PRSS1). Mutations cluster in the calcium-associated regulator regions of PRSS1...
  72. ncbi Motion--genetic testing is useful in the diagnosis of nonhereditary pancreatic conditions: arguments for the motion
    David C Whitcomb
    Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, Pennsylvania, USA
    Can J Gastroenterol 17:47-52. 2003
    Mutations of three major genes are associated with an increased risk of acute and chronic pancreatitis: the cationic trypsinogen (PRSS1) gene, the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and the pancreatic ..
  73. ncbi Genetic analysis of the glutathione s-transferase genes MGST1, GSTM3, GSTT1, and GSTM1 in patients with hereditary pancreatitis
    Alexander Schneider
    Department of Medicine, Division of Gastroenterology, University of Pittsburgh, 571 Scaife Hall, 3550 Terrace Street, Pittsburgh, PA 15213, USA
    J Gastroenterol 39:783-7. 2004
    Specific mutations in the cationic trypsinogen gene ( PRSS1) are disease-causing in patients with hereditary pancreatitis, but the genetic background still remains mysterious in about 40% of patients with the disease...
  74. ncbi Genes, cloned cDNAs, and proteins of human trypsinogens and pancreatitis-associated cationic trypsinogen mutations
    J M Chen
    Centre de Biogenetique, University Hospital, EFS Bretagne, Brest, France
    Pancreas 21:57-62. 2000
    ..They have received renewed attention after the identification of mutations in the cationic trypsinogen gene as being associated with hereditary pancreatitis...
  75. ncbi Analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene mutations in Japanese patients with chronic pancreatitis
    K Kaneko
    Department of Molecular Pathology, Tohoku University School of Medicine, Sendai, Japan
    J Hum Genet 46:293-7. 2001
    ..Several studies have demonstrated that mutations in the cationic trypsinogen (PRSS1) gene and the cystic fibrosis transmembrane conductance regulator (CFTR) gene are causative of the ..
  76. ncbi The pathobiochemistry of hereditary pancreatitis: studies on recombinant human cationic trypsinogen
    M Sahin-Toth
    Department of Physiology, University of California Los Angeles, Calif, USA
    Pancreatology 1:461-5. 2001
    This study attempts to identify the biochemical alterations in human cationic trypsinogen and trypsin caused by the hereditary pancreatitis-associated mutations Arg117-->His and Asn21-->Ile.
  77. ncbi Increased secretion of the pancreatic secretory trypsin inhibitor (PSTI-I, monitor peptide) during development of chronic pancreatitis in the WBN/Kob rat
    R Graf
    Pancreatitis Research Laboratory, Department of Visceral and Transplantation Surgery, University Hospital, Zurich, Switzerland
    Pancreatology 2:108-15. 2002
    Recent genetic investigations into cationic trypsinogen and pancreatic secretory trypsin inhibitor (PSTI) led to the conclusion that mutations in either gene can contribute to the development of (hereditary) chronic pancreatitis...
  78. ncbi Serine protease inhibitor Kazal type 1 mutations and pancreatitis
    Alexander Schneider
    Department of Medicine II Gastroenterology, Hepatology and Infectious Diseases, University Hospital of Heidelberg at Mannheim, Theodor Kutzer Ufer 1 3 D 68135, Mannheim, Germany
    Gastroenterol Clin North Am 33:789-806. 2004
    ..The strong association of mutations in the PRSS1 gene and in the SPINK1 gene with chronic pancreatitis supports the concept of intracellular trypsin activation as ..
  79. ncbi Serine protease inhibitor kazal type 1 mutations and pancreatitis
    Alexander Schneider
    Department of Medicine II Gastroenterology, Hepatology and Infectious Diseases, University Hospital of Heidelberg at Mannheim, Theodor Kutzer Ufer 1 3 D 68135, Mannheim, Germany
    Clin Lab Med 25:61-78. 2005
    ..The strong association of mutations in the PRSS1 gene and in the SPINKI gene with chronic pancreatitis supports the concept of intracellular trypsin activation as ..
  80. doi Pre-diagnostic levels of anionic trypsinogen, cationic trypsinogen, and pancreatic secretory trypsin inhibitor in relation to pancreatic cancer risk
    Dorthe Johansen
    Department of Surgery, Malmo University Hospital, Lund University, Malmo, Sweden
    Pancreatology 10:229-37. 2010
    ..suggested that trypsinogen may enhance tumor progression and that the ratio between anionic trypsinogen and cationic trypsinogen (HAT/HCT) and between the sum of trypsinogens and pancreatic secretory trypsin inhibitor (PSTI) ((HAT + HCT)..
  81. ncbi Evidence against a role of human airway trypsin-like protease--the human analogue of the growth-promoting rat adrenal secretory protease--in adrenal tumourigenesis
    Stefanie Hahner
    Department of Medicine, University of Wuerzburg, Josef Schneider Strasse 2, D 97080 Wuerzburg, Germany
    Eur J Endocrinol 152:143-53. 2005
    ..AsP may therefore play a crucial role in adrenal growth and tumourigenesis. The aim of this study was to further characterize the human homologue of AsP and its possible role in adrenal tumourigenesis...
  82. doi Characterization of cold-adapted Atlantic cod (Gadus morhua) trypsin I--kinetic parameters, autolysis and thermal stability
    Bjarki Stefansson
    Department of Biochemistry, Science Institute University of Iceland, Dunhaga 3, 107 Reykjavik, Iceland
    Comp Biochem Physiol B Biochem Mol Biol 155:186-94. 2010
    ..Unfolding experiments demonstrated that autolysis is a contributing factor in the stability of trypsin I. In addition, the data shows that cod trypsin I is less stable towards thermal unfolding than its mesophilic bovine analogue...
  83. ncbi Development of papillae on colonies of two isopolyauxotrophic strains of Saccharomyces cerevisiae allelic in RAD6 during adenine starvation
    A P Rojas Gil
    Department of Genetics and Microbiology, Faculty of Science, Charles University, Prague, Czech Republic
    Folia Microbiol (Praha) 44:299-305. 1999
    Papilla formation on colonies of two isopolyauxotrophic strains (ade2 his3 leu2 trp1 ura3) allelic in RAD6 was compared in order to find proper conditions for selecting mutants of Saccharomyces cerevisiae with altered starvation-induced ..
  84. ncbi The yeast Rad6 protein: a mediator of homologous recombination across the scaffold attached region at the replication origin ARS1
    M B Markvart
    Department of Molecular Biology, Odense University, Denmark
    Yeast 12:1427-38. 1996
    ..that the ubiquitin-conjugating enzyme Rad6p plays a crucial role in locus-specific replacement recombination in the TRP1-ARS1 region...
  85. pmc A putative zinc finger protein, Saccharomyces cerevisiae Vps18p, affects late Golgi functions required for vacuolar protein sorting and efficient alpha-factor prohormone maturation
    J S Robinson
    Division of Biology, California Institute of Technology, Pasadena 91125
    Mol Cell Biol 11:5813-24. 1991
    ..11:5801-5812, 1991) shows that the two genes are identical. Disruption of the VPS18/PEP3 gene (vps18 delta 1::TRP1) is not lethal but results in the same vacuolar protein sorting and growth defects exhibited by the original ..
  86. pmc Phycomyces blakesleeanus TRP1 gene: organization and functional complementation in Escherichia coli and Saccharomyces cerevisiae
    J L Revuelta
    Department of Molecular Biology, Research Institute of Scripps Clinic, La Jolla, California 92037
    Mol Cell Biol 7:2664-70. 1987
    ..the P. blakesleeanus TRPF and TRPC formed part of a trifunctional polypeptide encoded by a single gene (called TRP1). Transcription of TRP1 in P...
  87. ncbi Human ocular melanocytes and retinal pigment epithelial cells differ in their melanogenic properties in vivo and in vitro
    L Smith-Thomas
    University Department of Medicine, Northern General Hospital, Sheffield, UK
    Curr Eye Res 15:1079-91. 1996
    ..The aim of this study was to examine aspects of the pigmentary properties of both cell types in vitro and ex vivo to learn more of the function of these cells...
  88. pmc Distinct protein sorting and localization to premelanosomes, melanosomes, and lysosomes in pigmented melanocytic cells
    G Raposo
    Curie Institute, Research Section, Paris, 7505 France
    J Cell Biol 152:809-24. 2001
    ..Melanosome resident proteins Pmel17 and TRP1 localized to separate vesicular structures that were distinct from those enriched in lysosomal proteins...
  89. ncbi Trypsinogen-1, -2 and tumour-associated trypsin-inhibitor in bile and biliary tract tissues from patients with biliary tract diseases and pancreatic carcinomas
    J Hedstrom
    Department of Clinical Chemistry, University of Helsinki, Finland
    Scand J Clin Lab Invest 61:111-8. 2001
    ..At least part of the trypsinogen-2 and TATI found in bile appears to be derived from the biliary epithelium itself...
  90. ncbi Association of trypsin expression with tumour progression and matrilysin expression in human colorectal cancer
    Hiroyuki Yamamoto
    First Department of Internal Medicine, Sapporo Medical University, South 1, West 16, Chuo Ku, Sapporo 060 8543, Japan
    J Pathol 199:176-84. 2003
    ..Detection of trypsin expression as well as matrilysin is useful for the prediction of recurrence in and poor prognosis of colorectal cancer patients...
  91. ncbi Genetic predisposition to alcoholic chronic pancreatitis
    David C Whitcomb
    Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh, and the VA Pittsburgh Health Care System, Pittsburgh, Pennsylvania, USA
    Pancreas 27:321-6. 2003
    ..However, the major common gene mutations in CFTR, PRSS1, and SPINK1 only slightly increase the risk of alcoholic chronic pancreatitis...
  92. ncbi Recombinant cold-adapted trypsin I from Atlantic cod-expression, purification, and identification
    Gudrun Jonsdottir
    Department of Food Science, University of Iceland, Science Institute, Vatnsmyrarvegi 16, IS 101 Reykjavik, Iceland
    Protein Expr Purif 33:110-22. 2004
    ..The recombinant cod trypsin I was purified to homogeneity on a trypsin-specific benzamidine affinity column. The identity of the recombinant enzyme was demonstrated by electrophoresis and chromatography...
  93. ncbi TESSP-1: a novel serine protease gene expressed in the spermatogonia and spermatocytes of adult mouse testes
    Naoharu Takano
    Division of Biological Sciences, Graduate School of Science, Hokkaido University, Sapporo, Japan
    Mol Reprod Dev 70:1-10. 2005
    ..Tests also showed that the C-terminal hydrophobic region of TESSP-1 was important upon its binding to the membrane by anchoring through glycosylphosphatidylinositol (GPI)...
  94. ncbi Experimentally induced Vogt-Koyanagi-Harada disease in two Akita dogs
    Kunihiko Yamaki
    Department of Ophthalmology, Akita University School of Medicine, 1 1 1 Hondo, Akita 010 8543, Japan
    Exp Eye Res 80:273-80. 2005
    ..VKH)-like disease can be induced in Akita dogs by immunizing them with tyrosinase related protein 1 (TRP1), and compared the alterations induced to those of Akita dogs with a spontaneously occurring disease that resembles ..
  95. ncbi Treatment of familial pancreatic cancer and its precursors
    Ralph H Hruban
    The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins Medical Institutions, 401 North Broadway, Weinberg 2249, Baltimore, MD 21231, USA
    Curr Treat Options Gastroenterol 8:365-75. 2005
    ..These include germline BRCA2, STK11/LKB1, p16/CDKN2A and PRSS1 gene mutations...
  96. ncbi Cathepsin B activates human trypsinogen 1 but not proelastase 2 or procarboxypeptidase B
    Bjorn Lindkvist
    Department of Surgery, Malmo University Hospital, Lund University, Malmo, Sweden
    Pancreatology 6:224-31. 2006
    ..The aim of this study was to investigate cathepsin B and tryptase activation of pancreatic zymogens...
  97. ncbi Characterization of immunoreactive trypsinogen activation peptide in urine in acute pancreatitis
    Ulf Petersson
    Department of Surgery, Malmo University Hospital, Lund University, Malmo, Sweden
    JOP 7:274-82. 2006
    ..Despite the extensive use of this original TAP assay, there is no characterization of the TAP-like immunoreactivity measured...
  98. pmc A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis
    Heiko Witt
    Department of Hepatology and Gastroenterology, Charite University Hospital, Augustenburger Platz 1, 13353 Berlin, Germany
    Nat Genet 38:668-73. 2006
    Chronic pancreatitis is a common inflammatory disease of the pancreas. Mutations in the genes encoding cationic trypsinogen (PRSS1) and the pancreatic secretory trypsin inhibitor (SPINK1) are associated with chronic pancreatitis...
  99. pmc Dissimilarity in the oxidative folding of onconase and ribonuclease A, two structural homologues
    Robert F Gahl
    Baker Laboratory of Chemistry and Chemical Biology, Cornell University, Ithaca, NY 14853 1301, USA
    Protein Eng Des Sel 21:223-31. 2008
    ..This indicates that the lack of a disulfide bond in ONC, analogous to the (65-72) disulfide bond in RNase A which plays an important role in its oxidative regeneration, does not adversely affect the oxidative folding of ONC...
  100. ncbi Antioxidant and antimelanogenic properties of chestnut flower extract
    Kumar Sapkota
    Department of Biotechnology, Chosun University, Gwangju, Republic of Korea
    Biosci Biotechnol Biochem 74:1527-33. 2010
    ..However, the protein levels of the other melanogenic enzymes, tyrosinase-related protein 1 (TRP1) and dopachrome tautomerase (DCT), were not altered significantly...
  101. pmc Whole exome sequencing identifies multiple, complex etiologies in an idiopathic hereditary pancreatitis kindred
    Jessica Larusch
    Department of Medicine, University of Pittsburgh Pittsburgh, PA, USA
    JOP 13:258-62. 2012
    ..While 80% of hereditary pancreatitis has been shown to be due to a single mutation in the trypsinogen gene PRSS1, a number of hereditary pancreatitis families have no identified genetic cause for illness; thus no reliable ..

Research Grants28

  1. Miklos Sahin-Toth; Fiscal Year: 2016
    ..The studied genetic alterations include mutations of the cationic trypsinogen (PRSS1) and pro-carboxypeptidase A1 (CPA1)...
  2. Ashok K Saluja; Fiscal Year: 2015
    ..The exciting findings from our preliminary studies (using our newly developed cationic trypsinogen and cathepsin B knockout mice) aimed at elucidating the role of trypsin in pathogenesis of pancreatitis ..
  3. Models of Type 1 and Type II Hereditary Pancreatitis
    CHARLES ULRICH; Fiscal Year: 2002
    ..An RI 17H mutation in the human cationic trypsinogen gene links with type I hereditary pancreatitis (HP I)...
  4. Role of Intra-Pancreatic Trypsinogen Activation in Alcoholic Pancreatitis
    Rajinder K Dawra; Fiscal Year: 2013
    ..Recently, we have developed knockout mice lacking trypsinogen 7, the mouse cationic trypsinogen. These mice do not show pathological activation of trypsinogen...
  5. Genetic Epidemiology of Young-Onset Pancreatic Cancer
    Robert R McWilliams; Fiscal Year: 2010
    ..Frequency of mutations in BRCA2, CDKN2A (Familial Melanoma), Fanconi Anemia Genes (FANCC and FANCG), CFTR, SPINK1, PRSS1, and polymorphisms of several DNA repair genes will be determined among 500 young-onset cases versus 1000 older-..
  6. Michael Steer; Fiscal Year: 2015
    ..Our central hypotheses is: (a) that autophagy, digestive zymogen activation, and acinar cell injury/death occur sequentially in biliary pancreatitis;(b) that they play ..
  7. KAREN TARASZKA HASTINGS; Fiscal Year: 2015
    ..studies have shown that GILT is required for MHC class II-restricted presentation of tyrosinase-related protein 1 (TRP1), a clinically-relevant autoantigen in vitiligo and melanoma...
  8. Brooke Anderson-White; Fiscal Year: 2014
    ..There is an urgent need for novel malaria therapeutics and the results of this research could lead directly to the development of these drugs. ..
  9. Lu Lu; Fiscal Year: 2014
    ..While mutant alleles of two genes, Tryp1 and Gpnmb, cause the iris disease in D2, the literature strongly suggests that these mutations are not sufficient ..
  10. Targeting HSP70 in autoimmune vitiligo
    ISABELLE CAROLINE LE POOLE; Fiscal Year: 2012
    ..specific aims [1] The role of HSP70 in fine tuning accessibility and processing of model melanosomal target antigen TRP1 by DC will be identified, [2] The depigmentation enhancing activity of HSP70 will be defined in our newly ..
  11. JEFFREY VICTOR RAVETCH; Fiscal Year: 2015
    ..We will investigate this "vaccinal" effect of anti-TRYP1 antibodies in the B16 melanoma model by exploiting the Fc3R conditional knockout strains we have generated...
  12. Protein-Protein Interactions in Melanosome Biogenesis
    Vijayasaradhi Setaluri; Fiscal Year: 2006
    ..In this proposal, we address the roles of melanosomal membrane protein TRP1/gp75, cytosolic PDZ protein GIPC and signaling protein APPL in melanosome biogenesis...
  13. TORSIN GENE FAMILY AND DYSTONIA AND MODIFYING GENES
    Laurie Ozelius; Fiscal Year: 2000
    ..In addition, this gene is related to three other highly homologous human genes (TORB, TRP1, TRP2)...
  14. Determining the Role of Orphan Serine Proteases
    David Goetz; Fiscal Year: 2005
    ..I will design mutations in conserved amino acids of the catalytic domain that can be complemented with corresponding alterations in the NLRs to increase specificity for the labeling reagents. ..
  15. Molecular Epidemiology of Melanoma
    Peter Kanetsky; Fiscal Year: 2006
    ..in melanogenesis, such as the melanocortin 1 receptor (MC1R), tyrosinase (TYR), the tyrosine-related proteins (TRP1, TRP2), and the P gene...
  16. Chromatin Remodeling in UVR Induced Melanogenesis
    IVANA DE LA SERNA; Fiscal Year: 2007
    ..evidence suggests that SWI/SNF enzymes are required for the activation of melanocyte specific genes (tyrosinase, trp1, and trp2) and for genes regulating cell cycle arrest (p21) and apoptosis (Bcl2)...
  17. MOLECULAR GENETICS OF HEREDITARY PANCREATITIS
    David Whitcomb; Fiscal Year: 2008
    ..The HP and familial pancreatitis studies are especially important because of the statistical power of family studies and the ability to detect modifier genes in a uniform background of susceptibility factors. ..
  18. NAPS2 Continuation - Genome-Wide Association Study of Pancreatitis
    David C Whitcomb; Fiscal Year: 2010
    ..Knowledge of the genetic basis of pancreatitis will lead to new treatments, and help remove the stigma that chronic pancreatitis is only a disease of drunkards. ..
  19. 14th Internatinal Symposium on Inherited Diseases
    David Whitcomb; Fiscal Year: 2004
    ..The format, venue, and content are designed to maximize participation, education, translation and implementation of the key elements of the many new findings in the genetics of the pancreas. ..
  20. Role of trypsinogen sulfation in alcoholic pancreatitis
    Miklos Sahin Toth; Fiscal Year: 2006
    ..hypothesis draws support from our recent knowledge that hereditary pancreatitis-associated mutations in the cationic trypsinogen result in atypical trypsinogen molecules, which exhibit faster activation or higher stability...
  21. Activating liver carcinogens in yeast by expressing CYP450 polymorphisms
    Michael Fasullo; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  22. RADIATION INDUCTION OF GENOMIC REARRANGEMENTS IN YEAST
    Michael Fasullo; Fiscal Year: 2004
    ..abstract_text> ..
  23. The Cystic Fibrosis Gene and Chronic Pancreatitis
    Jonathan Cohn; Fiscal Year: 2009
    ..Thus, this project's general goals are to develop methods to identify health y individuals who are highly susceptible to CP and CP, and to work towards developing preventative therapy for these individuals. ..
  24. STRUCTURE-FUNCTION ANALYSIS OF COLIPASE AND LIPASE
    Mark Lowe; Fiscal Year: 2005
    ..The results will ultimately permit us to manipulate these interactions for therapeutic purposes. ..
  25. PANCREATIC LIPASES AND COLIPASE IN LIPOLYSIS AND OBESITY
    Mark Lowe; Fiscal Year: 2007
    ..Taken together the completion of these studies will increase our understanding of fat digestion and the regulation of fat intake. ..
  26. PHENOTYPIC AND PSYCHOSOCIAL STUDY OF THE L1307K MUTATION
    Henry Lynch; Fiscal Year: 2004
    ....
  27. MOLECULAR BASIS OF SECRETORY DIARRHEA
    Jonathan Cohn; Fiscal Year: 2003
    ..Given the pivotal role of CFTR in the pathogenesis of diarrhea and CF this project has excellent prospects of leading to information of practical benefit in the treatment of these conditions. ..
  28. GENETIC ANALYSIS OF ENZYME PROCESSING AND LOCALIZATION
    Elizabeth Jones; Fiscal Year: 2002
    ..Methods will include targeted mutagenesis, suppressor selection and analysis, subcellular fractionation, biochemistry, and immunofluorescence. ..