SPINK1

Summary

Gene Symbol: SPINK1
Description: serine peptidase inhibitor, Kazal type 1
Alias: PCTT, PSTI, Spink3, TATI, TCP, serine protease inhibitor Kazal-type 1, pancreatic secretory trypsin inhibitor, serine protease inhibitor, Kazal type 1, tumor-associated trypsin inhibitor
Species: human
Products:     SPINK1

Top Publications

  1. Huhtala M, Pesonen K, Kalkkinen N, Stenman U. Purification and characterization of a tumor-associated trypsin inhibitor from the urine of a patient with ovarian cancer. J Biol Chem. 1982;257:13713-6 pubmed
    ..The 21 residues determined were found to be identical with the corresponding ones of human pancreatic trypsin inhibitor. The purified peptide also inhibited bovine trypsin effectively. ..
  2. Tukiainen E, Kylanpaa M, 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 pubmed
    Mutations in the secretory trypsin inhibitor (SPINK1) gene have been found to be associated with hereditary and chronic pancreatitis. There are no previous reports on SPINK1 mutations in patients with acute pancreatitis (AP)...
  3. Tomlins S, Rhodes D, Yu J, Varambally S, Mehra R, Perner S, et al. The role of SPINK1 in ETS rearrangement-negative prostate cancers. Cancer Cell. 2008;13:519-28 pubmed publisher
    ..Here we used an outlier meta-analysis (meta-COPA) to identify SPINK1 outlier expression exclusively in a subset of ETS rearrangement-negative cancers ( approximately 10% of total ..
  4. Solakidi S, Dessypris A, Stathopoulos G, Androulakis G, Sekeris C. Tumour-associated trypsin inhibitor, carcinoembryonic antigen and acute-phase reactant proteins CRP and alpha1-antitrypsin in patients with gastrointestinal malignancies. Clin Biochem. 2004;37:56-60 pubmed
    Elevated serum tumour-associated trypsin inhibitor (TATI) levels have been observed in association with malignancy or inflammation. The aim of our study was to evaluate the role of TATI in gastric and colorectal cancer...
  5. Kaneko K, Nagasaki Y, Furukawa T, Mizutamari H, Sato A, Masamune A, et al. Analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene mutations in Japanese patients with chronic pancreatitis. J Hum Genet. 2001;46:293-7 pubmed
    ..Recently, the N34S alteration of the pancreatic secretory trypsin inhibitor (PSTI) gene has been suggested to be closely associated with the pathogenesis of hereditary and/or ..
  6. Gouyer V, Fontaine D, Dumont P, De Wever O, Fontayne Devaud H, Leteurtre E, et al. Autocrine induction of invasion and metastasis by tumor-associated trypsin inhibitor in human colon cancer cells. Oncogene. 2008;27:4024-33 pubmed publisher
    ..cells, HT-29 5M21 (CM-5M21), expressing a spontaneous invasive phenotype, tumor-associated trypsin inhibitor (TATI) was identified and characterized by proteomics, cDNA microarray approaches and functional analyses...
  7. Kereszturi E, Kiraly O, Sahin Toth M. Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis. Gut. 2009;58:545-9 pubmed publisher
    Two common haplotypes of the serine protease inhibitor Kazal type 1 (SPINK1) gene have been shown to increase the risk for chronic pancreatitis. A haplotype comprising the c.101A>G (p...
  8. Kume K, Masamune A, Mizutamari H, Kaneko K, Kikuta K, Satoh M, et al. Mutations in the serine protease inhibitor Kazal Type 1 (SPINK1) gene in Japanese patients with pancreatitis. Pancreatology. 2005;5:354-60 pubmed
    Recent studies have shown an association between the N34S mutation in the serine protease inhibitor Kazal type 1 (SPINK1) gene and chronic pancreatitis (CP)...
  9. Gasiorowska A, Talar Wojnarowska R, Czupryniak L, Smolarz B, Romanowicz Makowska H, Kulig A, et al. 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. Dig Dis Sci. 2011;56:894-901 pubmed publisher
    ..The aim of the study was to determine the frequency of PRSS1 and SPINK1 mutations in patients with chronic alcoholic (ACP) and idiopathic pancreatitis (ICP) as well as to investigate ..

More Information

Publications64

  1. Midha S, Khajuria R, Shastri S, Kabra M, Garg P. Idiopathic chronic pancreatitis in India: phenotypic characterisation and strong genetic susceptibility due to SPINK1 and CFTR gene mutations. Gut. 2010;59:800-7 pubmed publisher
    ..Consecutive patients with CP. Detailed mutational analysis was done for the cationic trypsinogen, SPINK1 and CFTR genes with single-strand conformational polymorphism or restricted fragment length polymorphism, and ..
  2. Chandak G, Idris M, Reddy D, Bhaskar S, Sriram P, 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;39:347-51 pubmed
  3. Gomez Lira M, Bonamini D, Castellani C, Unis L, Cavallini G, Assael B, et al. Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients. Eur J Hum Genet. 2003;11:543-6 pubmed
    ..Mutations in the serine protease inhibitor Kazal 1 (SPINK1) have been described in some idiopathic chronic patients and it has been suggested that mutations in this gene ..
  4. Aoun E, Muddana V, Papachristou G, Whitcomb D. SPINK1 N34S is strongly associated with recurrent acute pancreatitis but is not a risk factor for the first or sentinel acute pancreatitis event. Am J Gastroenterol. 2010;105:446-51 pubmed publisher
    b>Serine protease inhibitor Kazal type 1 (SPINK1) gene mutations have been associated with chronic pancreatitis of different etiologies; however, little is known about their role in the pathogenesis of acute pancreatitis (AP)...
  5. Horii A, Kobayashi T, Tomita N, Yamamoto T, Fukushige S, Murotsu T, et al. Primary structure of human pancreatic secretory trypsin inhibitor (PSTI) gene. Biochem Biophys Res Commun. 1987;149:635-41 pubmed
    The human pancreatic secretory trypsin inhibitor (PSTI) gene was isolated from a human gene library. Restriction endonuclease mapping and DNA sequencing analysis revealed that this gene is approximately 7...
  6. Lu X, Lamontagne J, Lu F, Block T. Tumor-associated protein SPIK/TATI suppresses serine protease dependent cell apoptosis. Apoptosis. 2008;13:483-94 pubmed publisher
    ..Here, we show that over-expression of a cellular protein called serine protease inhibitor Kazal (SPIK/TATI/PSTI) results in a significant decrease in cell susceptibility to SPDCA, suggesting that SPIK is an apoptosis ..
  7. Masson E, Le Maréchal C, Chen J, Frebourg T, Lerebours E, Ferec C. Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene. Eur J Hum Genet. 2006;14:1204-8 pubmed
    Mutations and polymorphisms in the SPINK1 gene, which encodes trypsin's physiological inhibitor, pancreatic secretory trypsin inhibitor, have been found to be associated with chronic pancreatitis...
  8. Le Marechal C, Chen J, Le Gall C, Plessis G, Chipponi J, Chuzhanova N, 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 pubmed
    Mutations in the serine protease inhibitor Kazal type 1 gene (SPINK1) encoding pancreatic secretory trypsin inhibitor (PSTI) have recently been found to be associated with chronic pancreatitis...
  9. Matsubayashi H, Fukushima N, Sato N, Brune K, Canto M, Yeo C, et al. Polymorphisms of SPINK1 N34S and CFTR in patients with sporadic and familial pancreatic cancer. Cancer Biol Ther. 2003;2:652-5 pubmed
    ..Inheritance of polymorphisms in SPINK1 and CFTR are associated with an increased risk of developing pancreatitis...
  10. Bernardino A, Guarita D, Mott C, Pedroso M, Machado M, Laudanna A, et al. CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients. JOP. 2003;4:169-77 pubmed
    ..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, idiopathic and ..
  11. Chen J, Mercier B, Audrezet M, Ferec C. Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis. J Med Genet. 2000;37:67-9 pubmed
  12. Schneider A, Pfutzer R, Barmada M, Slivka A, Martin J, Whitcomb D. Limited contribution of the SPINK1 N34S mutation to the risk and severity of alcoholic chronic pancreatitis: a report from the United States. Dig Dis Sci. 2003;48:1110-5 pubmed
    Mutations in the SPINK1 gene (e.g. N34S) have been reported in patients with idiopathic, familial, tropical, and alcoholic pancreatitis...
  13. Leinonen K, Tolonen T, Bracken H, Stenman U, Tammela T, Saramäki O, et al. Association of SPINK1 expression and TMPRSS2:ERG fusion with prognosis in endocrine-treated prostate cancer. Clin Cancer Res. 2010;16:2845-51 pubmed publisher
    The aim of the study was to examine whether TMPRSS2:ERG fusion or SPINK1 protein expression is associated with hormone responsiveness of prostate cancer and can thus be used as a biomarker...
  14. Boulling A, Le Maréchal C, Trouvé P, Raguenes O, Chen J, Ferec C. Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene. Eur J Hum Genet. 2007;15:936-42 pubmed
    Variations in the SPINK1 gene (encoding pancreatic secretory trypsin inhibitor (PSTI)) are associated with chronic pancreatitis...
  15. Derikx M, Szmola R, Te Morsche R, Sunderasan S, Chacko A, Drenth J. Tropical calcific pancreatitis and its association with CTRC and SPINK1 (p.N34S) variants. Eur J Gastroenterol Hepatol. 2009;21:889-94 pubmed publisher
    ..The SPINK1 variant p.N34S is strongly associated with TCP, but other genetic factors remain to be defined...
  16. Marchbank T, Weaver G, Nilsen Hamilton M, Playford R. Pancreatic secretory trypsin inhibitor is a major motogenic and protective factor in human breast milk. Am J Physiol Gastrointest Liver Physiol. 2009;296:G697-703 pubmed publisher
    ..We examined whether human colostrum and milk contained pancreatic secretory trypsin inhibitor (PSTI), a peptide of potential relevance for mucosal defense and, using in vitro and in vivo ..
  17. Solakidi S, Tiniakos D, Petraki K, Stathopoulos G, Markaki I, Androulakis G, et al. Co-expression of trypsin and tumour-associated trypsin inhibitor (TATI) in colorectal adenocarcinomas. Histol Histopathol. 2003;18:1181-8 pubmed publisher
    Trypsin and its specific inhibitor, TATI (tumour-associated trypsin inhibitor), are expressed in normal human pancreas and in a variety of tumours...
  18. Shimosegawa T, Kume K, Masamune A. SPINK1 gene mutations and pancreatitis in Japan. J Gastroenterol Hepatol. 2006;21 Suppl 3:S47-51 pubmed
    b>SPINK1 can inhibit up to 20% of trypsin activity, and may constitute one major mechanism to protect the pancreas from autodigestion. In 2000, Witt et al...
  19. O Reilly D, Witt H, Rahman S, Schulz H, Sargen K, Kage A, et al. The SPINK1 N34S variant is associated with acute pancreatitis. Eur J Gastroenterol Hepatol. 2008;20:726-31 pubmed publisher
    ..The aim of this study was to investigate the prevalence of genetic variants of the trypsin inhibitor, SPINK1, in acute pancreatitis...
  20. Pfützer R, Whitcomb D. SPINK1 mutations are associated with multiple phenotypes. Pancreatology. 2001;1:457-60 pubmed
    Mutations in the gene encoding for the pancreatic secretory trypsin inhibitor or serine protease inhibitor, Kazal type I (SPINK1) have been associated with different entities of chronic pancreatitis...
  21. Schneider A, Larusch J, Sun X, Aloe A, Lamb J, Hawes R, et al. Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis. Gastroenterology. 2011;140:162-71 pubmed publisher
    ..We investigated whether sequence variants in the gene encoding the pancreatic secretory trypsin inhibitor SPINK1 further increase the risk of pancreatitis in these patients...
  22. Lempinen M, Paju A, Kemppainen E, Smura T, Kylanpaa M, Nevanlinna H, et al. Mutations N34S and P55S of the SPINK1 gene in patients with chronic pancreatitis or pancreatic cancer and in healthy subjects: a report from Finland. Scand J Gastroenterol. 2005;40:225-30 pubmed
    Mutations in the Kazal type 1 serine protease inhibitor (SPINK1) gene have recently been associated with chronic pancreatitis (CP), an established risk factor for pancreatic cancer...
  23. Tzetis M, Kaliakatsos M, Fotoulaki M, Papatheodorou A, Doudounakis S, Tsezou A, et al. Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis. Clin Genet. 2007;71:451-7 pubmed
    ..486C/T and c.738C/T were found in nine patients each, three homozygotes for the minor alleles. Two carried SPINK1 gene mutation p.N34S, one being transheterozygote with CFTR mutation p.F1052V...
  24. Schneider A, Suman A, Rossi L, Barmada M, Beglinger C, Parvin S, et al. SPINK1/PSTI mutations are associated with tropical pancreatitis and type II diabetes mellitus in Bangladesh. Gastroenterology. 2002;123:1026-30 pubmed
    ..In a preliminary study, we found serine protease inhibitor, Kazal type 1 (SPINK1) mutations in 6 of 8 patients with fibrocalculous pancreatic diabetes in Bangladesh...
  25. Gaber A, Nodin B, Hotakainen K, Nilsson E, Stenman U, Bjartell A, et al. Increased serum levels of tumour-associated trypsin inhibitor independently predict a poor prognosis in colorectal cancer patients. BMC Cancer. 2010;10:498 pubmed publisher
    ..In a previous study, we found that high tumour tissue expression of tumour-associated trypsin inhibitor (TATI) correlated with liver metastasis and an impaired prognosis in CRC...
  26. Pfützer R, Barmada M, Brunskill A, Finch R, Hart P, Neoptolemos J, et al. SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis. Gastroenterology. 2000;119:615-23 pubmed
    ..Loss of trypsin inhibitor function may have similar effects. We investigated the prevalence of SPINK1 (PSTI) mutations in familial pancreatitis, idiopathic chronic pancreatitis, and controls...
  27. Gaber A, Johansson M, Stenman U, Hotakainen K, Ponten F, Glimelius B, et al. High expression of tumour-associated trypsin inhibitor correlates with liver metastasis and poor prognosis in colorectal cancer. Br J Cancer. 2009;100:1540-8 pubmed publisher
    Increased expression of tumour-associated trypsin inhibitor (TATI) in tumour tissue and/or serum has been associated with poor survival in various cancer forms...
  28. Audrezet M, Chen J, Le Maréchal C, Ruszniewski P, Robaszkiewicz M, Raguenes O, et al. 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 pancreati. Eur J Hum Genet. 2002;10:100-6 pubmed
    ..transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the pancreatic secretory trypsin inhibitor (PSTI) gene, have been found to be associated with chronic pancreatitis (CP)...
  29. Drenth J, te Morsche R, Jansen J. Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis. Gut. 2002;50:687-92 pubmed
    ..As serine protease inhibitor Kazal type 1 (SPINK1) is a potent natural inhibitor of pancreatic trypsin activity, we hypothesised that SPINK1 ..
  30. Ota Y, Masamune A, Inui K, Kume K, Shimosegawa T, Kikuyama M. Phenotypic variability of the homozygous IVS3+2T>C mutation in the serine protease inhibitor Kazal type 1 (SPINK1) gene in patients with chronic pancreatitis. Tohoku J Exp Med. 2010;221:197-201 pubmed
    ..Recent studies have shown an association between mutations in the serine protease inhibitor Kazal type 1 (SPINK1) gene and CP...
  31. Gaia E, Salacone P, Gallo M, Promis G, Brusco A, Bancone C, et al. Germline mutations in CFTR and PSTI genes in chronic pancreatitis patients. Dig Dis Sci. 2002;47:2416-21 pubmed
    ..cystic fibrosis transmembrane conductance regulator (CFTR) and pancreatic secretory trypsinogen inhibitor (PSTI) genes have recently been associated with chronic pancreatitis...
  32. Mora J, Comas L, Ripoll E, Gonçalves P, Queraltó J, González Sastre F, et al. Genetic mutations in a Spanish population with chronic pancreatitis. Pancreatology. 2009;9:644-51 pubmed publisher
    Mutations in the PRSS1 and the SPINK1 genes have variably been associated with alcohol-related, idiopathic and hereditary chronic pancreatitis (CP)...
  33. Hassan Z, Mohan V, Ali L, Allotey R, Barakat K, Faruque M, et al. SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent. Am J Hum Genet. 2002;71:964-8 pubmed
    ..Since the N34S variant of the SPINK1 trypsin inhibitor gene has been found to partially account for genetic susceptibility to chronic pancreatitis, we ..
  34. Witt H, Luck W, Hennies H, 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 pubmed
    ..children and adolescents with CP for mutations in the gene encoding the serine protease inhibitor, Kazal type 1 (SPINK1), a pancreatic trypsin inhibitor. We found mutations in 23% of the patients...
  35. Hotakainen K, Bjartell A, Sankila A, Jarvinen R, Paju A, Rintala E, et al. Differential expression of trypsinogen and tumor-associated trypsin inhibitor (TATI) in bladder cancer. Int J Oncol. 2006;28:95-101 pubmed
    Tumor-associated trypsin inhibitor (TATI) is a marker of mucinous ovarian carcinoma, but it is also widely expressed in other malignant tumors and normal human tissues...
  36. Perri F, Piepoli A, Stanziale P, Merla A, Zelante L, Andriulli A. 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. Eur J Hum Genet. 2003;11:687-92 pubmed
    ..PRSS1), cystic fibrosis transmembrane conductance regulator (CFTR), and serine protease inhibitor, Kazal type 1 (SPINK1) genes have been variably associated with both the hereditary and the idiopathic form of chronic pancreatitis (CP)...
  37. Marchbank T, Freeman T, Playford R. Human pancreatic secretory trypsin inhibitor. Distribution, actions and possible role in mucosal integrity and repair. Digestion. 1998;59:167-74 pubmed
    b>Pancreatic secretory trypsin inhibitor is a potent protease inhibitor which was originally identified in the pancreas...
  38. Aoun E, Chang C, Greer J, Papachristou G, Barmada M, Whitcomb D. Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis. PLoS ONE. 2008;3:e2003 pubmed publisher
    ..interactions between recurrent trypsin-mediated pancreatic injury, alcohol-associated pancreatic injury and SPINK1 polymorphisms in chronic pancreatitis (CP) are undefined...
  39. Teich N, Bauer N, Mossner J, Keim V. Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants. Am J Gastroenterol. 2002;97:341-6 pubmed
    ..A restriction digestion was used to analyze the N34S mutation SPINK1. The mutation R122H of the cationic trypsinogen was found in 21 index patients, N291 in six index patients, and ..
  40. Lamontagne J, Pinkerton M, Block T, Lu X. Hepatitis B and hepatitis C virus replication upregulates serine protease inhibitor Kazal, resulting in cellular resistance to serine protease-dependent apoptosis. J Virol. 2010;84:907-17 pubmed publisher
    ..These findings suggest a possibility by which HBV and HCV, two very different viruses, can share a common mechanism in provoking liver disease and cancer. ..
  41. Kiraly O, Wartmann T, Sahin Toth M. Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation. Gut. 2007;56:1433-8 pubmed
    Mutations of the SPINK1 gene encoding pancreatic secretory trypsin inhibitor have been identified in association with chronic pancreatitis...
  42. Truninger K, Witt H, Kock J, Kage A, Seifert B, Ammann R, et al. Mutations of the serine protease inhibitor, Kazal type 1 gene, in patients with idiopathic chronic pancreatitis. Am J Gastroenterol. 2002;97:1133-7 pubmed
    ..Recently, a point mutation (N34S) in the gene encoding the serine protease inhibitor, Kazal type 1 (SPINK1), was found in approximately 20% of patients with CP...
  43. Bhatia E, Choudhuri G, Sikora S, Landt O, Kage A, Becker M, et al. Tropical calcific pancreatitis: strong association with SPINK1 trypsin inhibitor mutations. Gastroenterology. 2002;123:1020-5 pubmed
    ..In the present study we report on mutations in the serine protease inhibitor, Kazal type 1 (SPINK1) gene in north Indian patients with TCP...
  44. Han B, Mehra R, Suleman K, Tomlins S, Wang L, Singhal N, et al. Characterization of ETS gene aberrations in select histologic variants of prostate carcinoma. Mod Pathol. 2009;22:1176-85 pubmed publisher
    ..b>SPINK1, a biomarker expressed exclusively in a subset of ETS negative prostate carcinomas, was expressed in 6% of ETS ..
  45. Chandak G, Idris M, Reddy D, Mani K, Bhaskar S, Rao G, 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 pubmed
    ..As a modifier role has been proposed for trypsin inhibitor (serine protease inhibitor, Kazal type I; SPINK1) mutations, the role of SPINK1 mutations in these patients was also analysed...
  46. Threadgold J, Greenhalf W, Ellis I, Howes N, Lerch M, 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 pubmed
    ..Recently, an association between the mutation N34S in the pancreatic secretory trypsin inhibitor (SPINK1 or PSTI) gene and idiopathic chronic pancreatitis (ICP) was reported...
  47. Wiksten J, Lundin J, Nordling S, Kokkola A, Stenman U, Haglund C. High tissue expression of tumour-associated trypsin inhibitor (TATI) associates with a more favourable prognosis in gastric cancer. Histopathology. 2005;46:380-8 pubmed
    The tumour-associated trypsin inhibitor (TATI) is a 6-kDa protease inhibitor with potential inhibitory effects on tissue degradation. In serum, increased levels have been associated with adverse prognosis in different forms of cancer...
  48. Rosendahl J, Landt O, Bernadova J, Kovacs P, Teich N, Bodeker H, et al. CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?. Gut. 2013;62:582-92 pubmed publisher
    ..660 patients with idiopathic or hereditary CP and up to 1758 controls were enrolled. PRSS1, SPINK1 and CTRC were analysed by DNA sequencing, and cystic fibrosis transmembrane conductance regulator (CFTR) by ..
  49. Soon W, Miller L, Black M, Dalmasso C, Chan X, Pang B, et al. Combined genomic and phenotype screening reveals secretory factor SPINK1 as an invasion and survival factor associated with patient prognosis in breast cancer. EMBO Mol Med. 2011;3:451-64 pubmed publisher
    ..We identified Serine protease inhibitor Kazal-type 1 (SPINK1) to be associated with poor survival in estrogen receptor-positive (ER+) cases...
  50. Koskensalo S, Hagstrom J, Louhimo J, Stenman U, Haglund C. Tumour-associated trypsin inhibitor TATI is a prognostic marker in colorectal cancer. Oncology. 2012;82:234-41 pubmed publisher
    The tumour-associated trypsin inhibitor TATI is expressed together with trypsin in many cancer forms, and an elevated serum level associates with poor prognosis...
  51. Keiles S, Kammesheidt A. Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis. Pancreas. 2006;33:221-7 pubmed
    ..Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) and the serine protease inhibitor Kazal type 1 (SPINK1) genes are also associated with pancreatitis...
  52. Masson E, Le Maréchal C, Levy P, Chuzhanova N, Ruszniewski P, Cooper D, et al. Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis. Mol Genet Metab. 2007;92:168-75 pubmed
    ..was established in order to make possible the rapid and efficient mutational analysis of the pancreatic secretory trypsin inhibitor (SPINK1) gene...
  53. Masamune A, Kume K, Shimosegawa T. Differential roles of the SPINK1 gene mutations in alcoholic and nonalcoholic chronic pancreatitis. J Gastroenterol. 2007;42 Suppl 17:135-40 pubmed
    ..We here examined the prevalence of the serine protease inhibitor Kazal type 1 (SPINK1) gene mutations in Japanese patients with CP, and whether the disease course was different ..
  54. Lee K, Ryu J, Yoon W, Lee J, Kim Y, Yoon Y. Mutation analysis of SPINK1 and CFTR gene in Korean patients with alcoholic chronic pancreatitis. Dig Dis Sci. 2005;50:1852-6 pubmed
    ..However, their roles in alcoholic chronic pancreatitis are controversial. We investigated the prevalence of SPINK1 N34S and new CFTR Q1352H mutations in alcoholic chronic pancreatitis in Korea...
  55. Sobczynska Tomaszewska A, Bak D, Oralewska B, Oracz G, Norek A, Czerska K, et al. Analysis of CFTR, SPINK1, PRSS1 and AAT mutations in children with acute or chronic pancreatitis. J Pediatr Gastroenterol Nutr. 2006;43:299-306 pubmed
    Defects of PRSS1, SPINK1, CFTR and AAT are considered causative or predisposing to pancreatitis...