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Volumn 42, Issue 8, 2007, Pages 1000-1005

Screening for human cationic trypsinogen (PRSS1) and trypsinogen inhibitor gene (SPINK1) mutations in a Finnish family with hereditary pancreatitis

Author keywords

Hereditary pancreatitis; N34S; PRSS1; R122H; SPINK1

Indexed keywords

ELASTASE; GLUCOSE;

EID: 34447116404     PISSN: 00365521     EISSN: 15027708     Source Type: Journal    
DOI: 10.1080/00365520701206738     Document Type: Article
Times cited : (7)

References (31)
  • 1
    • 76949133404 scopus 로고
    • Pedigree of a family with hereditary chronic relapsing pancreatitis
    • Comfort MW, Steinberg AG. Pedigree of a family with hereditary chronic relapsing pancreatitis. Gastroenterology 1952;21:54-63.
    • (1952) Gastroenterology , vol.21 , pp. 54-63
    • Comfort, M.W.1    Steinberg, A.G.2
  • 2
    • 23844463595 scopus 로고    scopus 로고
    • Genetics of pancreatitis
    • Keim V. Genetics of pancreatitis. Scand J Surg 2005;94:103-7.
    • (2005) Scand J Surg , vol.94 , pp. 103-107
    • Keim, V.1
  • 4
    • 0030446265 scopus 로고    scopus 로고
    • Linkage studies in a large kindred with hereditary pancreatitis confirms mapping of the gene to a 16-cM region on 7q
    • Pandya A, Blanton SH, Landa B, Javaheri R, Melvin E, Nance WE, et al. Linkage studies in a large kindred with hereditary pancreatitis confirms mapping of the gene to a 16-cM region on 7q. Genomics 1996;38:227-30.
    • (1996) Genomics , vol.38 , pp. 227-230
    • Pandya, A.1    Blanton, S.H.2    Landa, B.3    Javaheri, R.4    Melvin, E.5    Nance, W.E.6
  • 6
    • 0030813082 scopus 로고    scopus 로고
    • Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis
    • Gorry MC, Gabbaizedeh D, Furey W, Gates LKJr, Preston RA, Aston CE, et al. Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. Gastroenterology 1997;113:1063-8.
    • (1997) Gastroenterology , vol.113 , pp. 1063-1068
    • Gorry, M.C.1    Gabbaizedeh, D.2    Furey, W.3    LKJr, G.4    Preston, R.A.5    Aston, C.E.6
  • 7
    • 1442353284 scopus 로고    scopus 로고
    • Hereditary pancreatitis: Clinical characteristics and diagnostic criteria in Japan
    • Otsui M, Nishimori I, Hayakawa T, Hirota M, Ogawa M, Shimosegawa T. Hereditary pancreatitis: clinical characteristics and diagnostic criteria in Japan. Pancreas 2004;28:200-6.
    • (2004) Pancreas , vol.28 , pp. 200-206
    • Otsui, M.1    Nishimori, I.2    Hayakawa, T.3    Hirota, M.4    Ogawa, M.5    Shimosegawa, T.6
  • 8
    • 0032993541 scopus 로고    scopus 로고
    • A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis
    • Witt H, Luck W, Becker M. A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis. Gastroenterology 1999;117:7-10.
    • (1999) Gastroenterology , vol.117 , pp. 7-10
    • Witt, H.1    Luck, W.2    Becker, M.3
  • 10
    • 0036151004 scopus 로고    scopus 로고
    • Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal hereditary pancreatitis
    • Pfützer R, Myers E, Applebaum-Shapiro S, Finch R, Ellis I, Neoptolemos J, et al. Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal hereditary pancreatitis. Gut 2002;50:271-2.
    • (2002) Gut , vol.50 , pp. 271-272
    • Pfützer, R.1    Myers, E.2    Applebaum-Shapiro, S.3    Finch, R.4    Ellis, I.5    Neoptolemos, J.6
  • 11
    • 0033866202 scopus 로고    scopus 로고
    • Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin
    • Teich N, Ockenga J, Hoffmeister A, Manns M, Mossner J, Keim V. Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin. Gastroenterology 2000;199:461-5.
    • (2000) Gastroenterology , vol.199 , pp. 461-465
    • Teich, N.1    Ockenga, J.2    Hoffmeister, A.3    Manns, M.4    Mossner, J.5    Keim, V.6
  • 12
    • 0035093636 scopus 로고    scopus 로고
    • Mutational screening of the cationic trypsinogen gene in a large cohort of subjects with idiopathic chronic pancreatitis
    • Chen JM, Piepoli Bis A, Le Bodic L, Ruszniewski P, Robaszkiewics M, Deprez PH, et al. Mutational screening of the cationic trypsinogen gene in a large cohort of subjects with idiopathic chronic pancreatitis. Clin Genet 2001;59:189-93.
    • (2001) Clin Genet , vol.59 , pp. 189-193
    • Chen, J.M.1    Piepoli Bis, A.2    Le Bodic, L.3    Ruszniewski, P.4    Robaszkiewics, M.5    Deprez, P.H.6
  • 13
    • 0026772323 scopus 로고
    • Acute necrotizing pancreatitis in the opossum: Earliest morphological changes involve acinar cells
    • Lerch MM, Saluja AK, Dawra R, Ramarao P, Saluja M, Steer ML. Acute necrotizing pancreatitis in the opossum: earliest morphological changes involve acinar cells. Gastroenterology 1992;103:205-13.
    • (1992) Gastroenterology , vol.103 , pp. 205-213
    • Lerch, M.M.1    Saluja, A.K.2    Dawra, R.3    Ramarao, P.4    Saluja, M.5    Steer, M.L.6
  • 14
    • 0034039578 scopus 로고    scopus 로고
    • Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis
    • Witt H, Luck W, Hennies HC, Classen M, Kage A, Lass U, et al. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet 2000;25:213-6.
    • (2000) Nat Genet , vol.25 , pp. 213-216
    • Witt, H.1    Luck, W.2    Hennies, H.C.3    Classen, M.4    Kage, A.5    Lass, U.6
  • 16
    • 2342433551 scopus 로고    scopus 로고
    • Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis
    • Chandak GR, Idris MM, Reddy DN, Mani KR, Bhaskar S, Rao GV, et al. Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis. Gut 2004;53:723-8.
    • (2004) Gut , vol.53 , pp. 723-728
    • Chandak, G.R.1    Idris, M.M.2    Reddy, D.N.3    Mani, K.R.4    Bhaskar, S.5    Rao, G.V.6
  • 17
    • 0036789203 scopus 로고    scopus 로고
    • Tropical calcific pancreatitis: Strong association with SPINK trypsin inhibitor mutations
    • Bhatia E, Choudhuri G, Sikora SS, Landt O, Kage A, Becker M, et al. Tropical calcific pancreatitis: strong association with SPINK trypsin inhibitor mutations. Gastroenterology 2002;123:1020-5.
    • (2002) Gastroenterology , vol.123 , pp. 1020-1025
    • Bhatia, E.1    Choudhuri, G.2    Sikora, S.S.3    Landt, O.4    Kage, A.5    Becker, M.6
  • 18
    • 0036113792 scopus 로고    scopus 로고
    • Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis
    • Drenth JP, te Morsche R, Jansen JB. Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis. Gut 2002;50:687-92.
    • (2002) Gut , vol.50 , pp. 687-692
    • Drenth, J.P.1    te Morsche, R.2    Jansen, J.B.3
  • 19
    • 15444375210 scopus 로고    scopus 로고
    • Pancreatic secretory trypsin inhibitor (SPINK1) gene mutations in patients with acute pancreatitis
    • Tukiainen E, Kylänpää ML, Kemppainen E, Nevanlinna H, Paju A, Repo H, et al. Pancreatic secretory trypsin inhibitor (SPINK1) gene mutations in patients with acute pancreatitis. Pancreas 2005;30:239-42.
    • (2005) Pancreas , vol.30 , pp. 239-242
    • Tukiainen, E.1    Kylänpää, M.L.2    Kemppainen, E.3    Nevanlinna, H.4    Paju, A.5    Repo, H.6
  • 20
    • 0035816020 scopus 로고    scopus 로고
    • Mutation in the SPINK1 trypsin inhibitor gene, alcohol use, and chronic pancreatitis
    • Witt H, Luck W, Becker M, Bohmig M, Kage A, Truninger K, et al. Mutation in the SPINK1 trypsin inhibitor gene, alcohol use, and chronic pancreatitis. JAMA 2001;285:2716-7.
    • (2001) JAMA , vol.285 , pp. 2716-2717
    • Witt, H.1    Luck, W.2    Becker, M.3    Bohmig, M.4    Kage, A.5    Truninger, K.6
  • 21
    • 0036102601 scopus 로고    scopus 로고
    • The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease
    • Threadgold J, Greenhalf W, Ellis I, Howes N, Lerch MM, Simon P, et al. The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease. Gut 2002;50:675-81.
    • (2002) Gut , vol.50 , pp. 675-681
    • Threadgold, J.1    Greenhalf, W.2    Ellis, I.3    Howes, N.4    Lerch, M.M.5    Simon, P.6
  • 22
    • 0035080006 scopus 로고    scopus 로고
    • Expression and penetrance of the hereditary pancreatitis phenotype in monozycotic twins
    • Amann ST, Gates LK, Aston CE, Pandya A, Whitcomb DC. Expression and penetrance of the hereditary pancreatitis phenotype in monozycotic twins. Gut 2001;8:542-7.
    • (2001) Gut , vol.8 , pp. 542-547
    • Amann, S.T.1    Gates, L.K.2    Aston, C.E.3    Pandya, A.4    Whitcomb, D.C.5
  • 23
    • 2442727497 scopus 로고    scopus 로고
    • Screening for mutations of the cationic trypsinogen gene: Are they of relevance in chronic alcoholic pancreatitis
    • Teich N, Mossner J, Keim V. Screening for mutations of the cationic trypsinogen gene: are they of relevance in chronic alcoholic pancreatitis. Gut 1999;44:413-6.
    • (1999) Gut , vol.44 , pp. 413-416
    • Teich, N.1    Mossner, J.2    Keim, V.3
  • 24
    • 0034039578 scopus 로고    scopus 로고
    • Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis
    • Witt H, Luck W, Hennies HC, Classen M, Kage A, Lass U, et al. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet 2000;25:213-6.
    • (2000) Nat Genet , vol.25 , pp. 213-216
    • Witt, H.1    Luck, W.2    Hennies, H.C.3    Classen, M.4    Kage, A.5    Lass, U.6
  • 25
    • 0032869123 scopus 로고    scopus 로고
    • Molecular genetics of the Finnish disease heritage
    • Peltonen L, Jalanko A, Varilo T. Molecular genetics of the Finnish disease heritage. Hum Mol Gen 1999;8:19913-23.
    • (1999) Hum Mol Gen , vol.8 , pp. 19913-19923
    • Peltonen, L.1    Jalanko, A.2    Varilo, T.3
  • 26
    • 0037155148 scopus 로고    scopus 로고
    • Human cationic trypsinogen. Arg(117) is the reactive site of an inhibitory surface loop that controls spontaneous zymogen activation
    • Kukor Z, Toth M, Pal G, Sahin-Toth M. Human cationic trypsinogen. Arg(117) is the reactive site of an inhibitory surface loop that controls spontaneous zymogen activation. J Biol Chem 2002;277:6111-7.
    • (2002) J Biol Chem , vol.277 , pp. 6111-6117
    • Kukor, Z.1    Toth, M.2    Pal, G.3    Sahin-Toth, M.4
  • 27
    • 0034725697 scopus 로고    scopus 로고
    • Human cationic trypsinogen. Role of Asn-21 in zymogen activation and implications in hereditary pancreatitis
    • Sahin-Toth M. Human cationic trypsinogen. Role of Asn-21 in zymogen activation and implications in hereditary pancreatitis. J Biol Chem 2000;275:22750-5.
    • (2000) J Biol Chem , vol.275 , pp. 22750-22755
    • Sahin-Toth, M.1
  • 30
    • 9144233558 scopus 로고    scopus 로고
    • Interaction between trypsinogen isoforms in genetically determined pancreatitis: Mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2)
    • Teich N, Le Marechal C, Kukor Z, Caca K, Witzigmann H, Chen JM, et al. Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2). Hum Mutat 2004;23:22-31.
    • (2004) Hum Mutat , vol.23 , pp. 22-31
    • Teich, N.1    Le Marechal, C.2    Kukor, Z.3    Caca, K.4    Witzigmann, H.5    Chen, J.M.6
  • 31
    • 18544365392 scopus 로고    scopus 로고
    • Hereditary pancreatitis caused by a novel PRSS1 mutation (Arg-122→Cys) that alters autoactivation and autodegradation of cationic trypsinogen
    • Simon P, Weiss FU, Sahin-Toth M, Parry M, Nayler O, Lenfers B, et al. Hereditary pancreatitis caused by a novel PRSS1 mutation (Arg-122→Cys) that alters autoactivation and autodegradation of cationic trypsinogen. J Biol Chem 2002;277:5404-10.
    • (2002) J Biol Chem , vol.277 , pp. 5404-5410
    • Simon, P.1    Weiss, F.U.2    Sahin-Toth, M.3    Parry, M.4    Nayler, O.5    Lenfers, B.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.