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Volumn 19, Issue 10, 2011, Pages 1066-1073

Assessing the pathological relevance of SPINK1 promoter variants

Author keywords

chronic pancreatitis; promoter variants; reporter gene assay; SPINK1

Indexed keywords

DEOXYRIBONUCLEASE I;

EID: 80053052068     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.79     Document Type: Article
Times cited : (18)

References (34)
  • 3
    • 0034039578 scopus 로고    scopus 로고
    • Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis
    • DOI 10.1038/76088
    • Witt H, Luck W, Hennies HC, et al. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet 2000; 25: 213-216. (Pubitemid 30394996)
    • (2000) Nature Genetics , vol.25 , Issue.2 , pp. 213-216
    • Witt, H.1    Luck, W.2    Hennies, H.C.3    Classen, M.4    Kage, A.5    Lass, U.6    Landt, O.7    Becker, M.8
  • 4
    • 37549072225 scopus 로고    scopus 로고
    • Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis
    • Rosendahl J, Witt H, Szmola R, et al. Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis. Nat Genet 2008; 40: 78-82.
    • (2008) Nat Genet , vol.40 , pp. 78-82
    • Rosendahl, J.1    Witt, H.2    Szmola, R.3
  • 5
    • 38949132672 scopus 로고    scopus 로고
    • Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis
    • Masson E, Chen JM, Scotet V, Le Maréchal C, Férec C: Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis. Hum Genet 2008; 123: 83-91.
    • (2008) Hum Genet , vol.123 , pp. 83-91
    • Masson, E.1    Chen, J.M.2    Scotet, V.3    Le Maréchal, C.4    Férec, C.5
  • 6
    • 70350225542 scopus 로고    scopus 로고
    • Chronic pancreatitis: Genetics and pathogenesis
    • Chen JM, Fé rec C: Chronic pancreatitis: genetics and pathogenesis. Annu Rev Genomics Hum Genet 2009; 10: 63-87.
    • (2009) Annu Rev Genomics Hum Genet , vol.10 , pp. 63-87
    • Chen, J.M.1    Férec, C.2
  • 7
    • 1442329633 scopus 로고    scopus 로고
    • Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis
    • LeMaréchal C, Chen JM, Le Gall C, et al. Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis. Hum Mutat 2004; 23: 205.
    • (2004) Hum Mutat , vol.23 , pp. 205
    • Lemaréchal, C.1    Chen, J.M.2    Le Gall, C.3
  • 9
    • 33750397845 scopus 로고    scopus 로고
    • Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene
    • DOI 10.1038/sj.ejhg.5201684, PII 5201684
    • Masson E, Le Maréchal C, Chen JM, Frebourg T, Lerebours E, Férec C: Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene. Eur J Hum Genet 2006; 14: 1204-1208. (Pubitemid 44642586)
    • (2006) European Journal of Human Genetics , vol.14 , Issue.11 , pp. 1204-1208
    • Masson, E.1    Le Marechal, C.2    Chen, J.-M.3    Frebourg, T.4    Lerebours, E.5    Ferec, C.6
  • 11
    • 63849134622 scopus 로고    scopus 로고
    • Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis
    • Kereszturi E, Kirá ly O, Sahin-Tóth M: Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis. Gut 2009; 58: 545-549.
    • (2009) Gut , vol.58 , pp. 545-549
    • Kereszturi, E.K.1
  • 12
    • 63849216708 scopus 로고    scopus 로고
    • The true culprit within the SPINK1 p.N34S-containing haplotype is still at large
    • Chen JM, Fé rec C: The true culprit within the SPINK1 p.N34S-containing haplotype is still at large. Gut 2009; 58: 478-480.
    • (2009) Gut , vol.58 , pp. 478-480
    • Chen, J.M.1    Férec, C.2
  • 13
    • 34247256373 scopus 로고    scopus 로고
    • Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis
    • Király O, Boulling A, Witt H, et al. Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis. Hum Mutat 2007;28:469-476.
    • (2007) Hum Mutat , vol.28 , pp. 469-476
    • Király, O.B.1
  • 14
    • 34548186235 scopus 로고    scopus 로고
    • Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene
    • DOI 10.1038/sj.ejhg.5201873, PII 5201873
    • Boulling A, Le Maréchal C, Trouvé P, Raguéne's O, Chen JM, Férec C: Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene. Eur J Hum Genet 2007; 15: 936-942. (Pubitemid 47308469)
    • (2007) European Journal of Human Genetics , vol.15 , Issue.9 , pp. 936-942
    • Boulling, A.1    Le Marechal, C.2    Trouve, P.3    Raguenes, O.4    Chen, J.-M.5    Ferec, C.6
  • 15
    • 34948901262 scopus 로고    scopus 로고
    • Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation
    • Kirá ly O, Wartmann T, Sahin-Tóth M: Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation. Gut 2007; 56: 1433-1438.
    • (2007) Gut , vol.56 , pp. 1433-1438
    • Király, O.W.1
  • 16
  • 17
    • 67650462326 scopus 로고    scopus 로고
    • Gene promoter analysis in molecular diagnostics: Do or dont?
    • de Vooght KM, van Solinge WW: Gene promoter analysis in molecular diagnostics: do or dont? Expert Rev Mol Diagn 2009; 9: 403-405.
    • (2009) Expert Rev Mol Diagn , vol.9 , pp. 403-405
    • De Vooght, K.M.1    Van Solinge, W.W.2
  • 18
    • 77950204271 scopus 로고    scopus 로고
    • Genetic analysis of the glycoprotein 2 gene in patients with chronic pancreatitis
    • Masson E, Paliwal S, Bhaskar S, et al. Genetic analysis of the glycoprotein 2 gene in patients with chronic pancreatitis. Pancreas 2010; 39: 353-358.
    • (2010) Pancreas , vol.39 , pp. 353-358
    • Masson, E.1    Paliwal, S.2    Bhaskar, S.3
  • 19
    • 77649248308 scopus 로고    scopus 로고
    • Mutational analysis of the gene encoding the zymogen granule membrane glycoprotein 2 (GP2) in patients with chronic pancreatitis
    • Witt H, Rosendahl J, te Morsche RH, et al. Mutational analysis of the gene encoding the zymogen granule membrane glycoprotein 2 (GP2) in patients with chronic pancreatitis. Pancreas 2010; 39: 188-192.
    • (2010) Pancreas , vol.39 , pp. 188-192
    • Witt, H.1    Rosendahl, J.2    Te Morsche, R.H.3
  • 20
    • 0034111551 scopus 로고    scopus 로고
    • Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis
    • Chen JM, Mercier B, Audrézet MP, Férec C: Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis. J Med Genet 2000; 37: 67-69. (Pubitemid 30245883)
    • (2000) Journal of Medical Genetics , vol.37 , Issue.1 , pp. 67-69
    • Chen, J.-M.1    Mercier, B.2    Audrezet, M.-P.3    Ferec, C.4
  • 21
    • 0036096103 scopus 로고    scopus 로고
    • Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis [5]
    • Chandak GR, Idris MM, Reddy DN, Bhaskar S, Sriram PV, Singh L: Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis. J Med Genet 2002; 39: 347-351. (Pubitemid 34526356)
    • (2002) Journal of Medical Genetics , vol.39 , Issue.5 , pp. 347-351
    • Chandak, G.R.1    Idris, M.M.2    Reddy, D.N.3    Bhaskar, S.4    Sriram, P.V.J.5    Singh, L.6
  • 22
    • 76349087366 scopus 로고    scopus 로고
    • The c.1275A4G putative chronic pancreatitis-associated synonymous polymorphism in the glycoprotein 2 (GP2) gene decreases exon 9 inclusion
    • Boulling A, Le Gac G, Dujardin G, Chen JM, Férec C: The c.1275A4G putative chronic pancreatitis-associated synonymous polymorphism in the glycoprotein 2 (GP2) gene decreases exon 9 inclusion. Mol Genet Metab 2010; 99: 319-324.
    • (2010) Mol Genet Metab , vol.99 , pp. 319-324
    • Boulling, A.1    Le Gac, G.2    Dujardin, G.3    Chen, J.M.4    Férec, C.5
  • 23
    • 0032533547 scopus 로고    scopus 로고
    • Two HNF-1 binding sites govern the glucose repression of the human sucrase-isomaltase promoter
    • Rodolosse A, Carriere V, Rousset M, Lacasa M: Two HNF-1 binding sites govern the glucose repression of the human sucrase-isomaltase promoter. Biochem J 1998; 336 (part 1): 115-123. (Pubitemid 28532568)
    • (1998) Biochemical Journal , vol.336 , Issue.1 , pp. 115-123
    • Rodolosse, A.1    Carriere, V.2    Rousset, M.3    Lacasa, M.4
  • 24
    • 0024411240 scopus 로고
    • Identification of a cell-specific DNA-binding activity that interacts with a transcriptional activator of genes expressed in the acinar pancreas
    • Cockell M, Stevenson BJ, Strubin M, Hagenbuchle O, Wellauer PK: Identification of a cell-specific DNA-binding activity that interacts with a transcriptional activator of genes expressed in the acinar pancreas. Mol Cell Biol 1989; 9: 2464-2476. (Pubitemid 19148126)
    • (1989) Molecular and Cellular Biology , vol.9 , Issue.6 , pp. 2464-2476
    • Cockell, M.1    Stevenson, B.J.2    Strubin, M.3    Hagenbuchle, O.4    Wellauer, P.K.5
  • 25
    • 0018865225 scopus 로고
    • Human cell line (COLO 357) of metastatic pancreatic adenocarcinoma
    • DOI 10.1002/ijc.2910250507
    • Morgan RT, Woods LK, Moore GE, Quinn LA, McGavran L, Gordon SG: Human cell line (COLO 357) of metastatic pancreatic adenocarcinoma. Int J Cancer 1980; 25: 591-598. (Pubitemid 10156843)
    • (1980) International Journal of Cancer , vol.25 , Issue.5 , pp. 591-598
    • Morgan, R.T.1    Woods, L.K.2    Moore, G.E.3
  • 26
    • 33645236232 scopus 로고    scopus 로고
    • PTF1 is an organ-specific and Notch-independent basic helix-loop-helix complex containing the mammalian Suppressor of Hairless (RBP-J) or its paralogue, RBP-L
    • Beres TM, Masui T, Swift GH, Shi L, Henke RM, MacDonald RJ: PTF1 is an organ-specific and Notch-independent basic helix-loop-helix complex containing the mammalian Suppressor of Hairless (RBP-J) or its paralogue, RBP-L. Mol Cell Biol 2006; 26: 117-130.
    • (2006) Mol Cell Biol , vol.26 , pp. 117-130
    • Beres, T.M.1    Masui, T.2    Swift, G.H.3    Shi, L.4    Henke, R.M.5    MacDonald, R.J.6
  • 28
    • 0028246642 scopus 로고
    • Expression of the L-type pyruvate kinase gene and the hepatocyte nuclear factor 4 transcription factor in exocrine and endocrine pancreas
    • Miquerol L, Lopez S, Cartier N, Tulliez M, Raymondjean M, Kahn A: Expression of the L-type pyruvate kinase gene and the hepatocyte nuclear factor 4 transcription factor in exocrine and endocrine pancreas. J Biol Chem 1994; 269: 8944-8951. (Pubitemid 24209210)
    • (1994) Journal of Biological Chemistry , vol.269 , Issue.12 , pp. 8944-8951
    • Miquerol, L.1    Lopez, S.2    Cartier, N.3    Tulliez, M.4    Raymondjean, M.5    Kahn, A.6
  • 29
    • 50249106419 scopus 로고    scopus 로고
    • Transcriptional autoregulation controls pancreatic Ptf1a expression during development and adulthood
    • Masui T, Swift GH, Hale MA, Meredith DM, Johnson JE, Macdonald RJ: Transcriptional autoregulation controls pancreatic Ptf1a expression during development and adulthood. Mol Cell Biol 2008; 28: 5458-5468.
    • (2008) Mol Cell Biol , vol.28 , pp. 5458-5468
    • Masui, T.1    Swift, G.H.2    Hale, M.A.3    Meredith, D.M.4    Johnson, J.E.5    MacDonald, R.J.6
  • 31
    • 0033857452 scopus 로고    scopus 로고
    • SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis
    • Pfutzer RH, Barmada MM, Brunskill AP, et al. SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis. Gastroenterology 2000; 119: 615-623.
    • (2000) Gastroenterology , vol.119 , pp. 615-623
    • Pfutzer, R.H.1    Barmada, M.M.2    Brunskill, A.P.3
  • 32
    • 33749143421 scopus 로고    scopus 로고
    • Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis
    • DOI 10.1097/01.mpa.0000232014.94974.75, PII 0000667620061000000002
    • Keiles S, Kammesheidt A: Identification of CFTR, PRSS1, and SPINK1 mutations in patients with pancreatitis. Pancreas 2006; 33: 221-227. (Pubitemid 44470135)
    • (2006) Pancreas , vol.33 , Issue.3 , pp. 221-227
    • Keiles, S.1    Kammesheidt, A.2
  • 33
    • 33746117691 scopus 로고    scopus 로고
    • [-215G>A;IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding site [12]
    • DOI 10.1136/gut.2006.095752
    • Kume K, Masamune A, Kikuta K, Shimosegawa T: [-215G4A; IVS3+2T4C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding site. Gut 2006; 55: 1214. (Pubitemid 44085702)
    • (2006) Gut , vol.55 , Issue.8 , pp. 1214
    • Kume, K.1    Masomune, A.2    Kikuta, K.3    Shimosegawa, T.4
  • 34
    • 33646258998 scopus 로고    scopus 로고
    • A 93 year old man with the PRSS1 R122H mutation, low SPINK1 expression, and no pancreatitis: Insights into phenotypic nonpenetrance
    • Khalid A, Finkelstein S, Thompson B, et al. A 93 year old man with the PRSS1 R122H mutation, low SPINK1 expression, and no pancreatitis: insights into phenotypic nonpenetrance. Gut 2006; 55: 728-731.
    • (2006) Gut , vol.55 , pp. 728-731
    • Khalid, A.1    Finkelstein, S.2    Thompson, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.