메뉴 건너뛰기




Volumn 6, Issue 10, 2011, Pages

Mucin variable number tandem repeat polymorphisms and severity of cystic fibrosis lung disease: Significant association with MUC5AC

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MUC5AC PROTEIN, HUMAN; MUCIN 5AC;

EID: 80053604911     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0025452     Document Type: Article
Times cited : (43)

References (36)
  • 1
    • 43549093774 scopus 로고    scopus 로고
    • Structure and function of the polymeric mucins in airways mucus
    • Thornton DJ, Rousseau K, McGuckin MA, (2008) Structure and function of the polymeric mucins in airways mucus. Annu Rev Physiol 70: 459-486.
    • (2008) Annu Rev Physiol , vol.70 , pp. 459-486
    • Thornton, D.J.1    Rousseau, K.2    McGuckin, M.A.3
  • 2
    • 33644620356 scopus 로고    scopus 로고
    • Respiratory tract mucin genes and mucin glycoproteins in health and disease
    • Rose MC, Voynow JA, (2006) Respiratory tract mucin genes and mucin glycoproteins in health and disease. Physiol Rev 86: 245-278.
    • (2006) Physiol Rev , vol.86 , pp. 245-278
    • Rose, M.C.1    Voynow, J.A.2
  • 4
    • 0028106680 scopus 로고
    • Molecular cloning of human intestinal mucin (MUC2) cDNA. Identification of the amino terminus and overall sequence similarity to prepro-von Willebrand factor
    • Gum JR Jr, Hicks JW, Toribara NW, Siddiki B, Kim YS, (1994) Molecular cloning of human intestinal mucin (MUC2) cDNA. Identification of the amino terminus and overall sequence similarity to prepro-von Willebrand factor. J Biol Chem 269: 2440-2446.
    • (1994) J Biol Chem , vol.269 , pp. 2440-2446
    • Gum Jr., J.R.1    Hicks, J.W.2    Toribara, N.W.3    Siddiki, B.4    Kim, Y.S.5
  • 5
    • 0036194724 scopus 로고    scopus 로고
    • Mucus clearance as a primary innate defense mechanism for mammalian airways ("Perspective")
    • Knowles MR, Boucher RC, (2002) Mucus clearance as a primary innate defense mechanism for mammalian airways ("Perspective"). J Clin Invest 109: 571-577.
    • (2002) J Clin Invest , vol.109 , pp. 571-577
    • Knowles, M.R.1    Boucher, R.C.2
  • 8
    • 79957588506 scopus 로고    scopus 로고
    • Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2
    • Wright FA, Strug LJ, Doshi VK, Commander CW, Blackman SM, et al. (2011) Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. Nat Genet 43 (6): 539-546.
    • (2011) Nat Genet , vol.43 , Issue.6 , pp. 539-546
    • Wright, F.A.1    Strug, L.J.2    Doshi, V.K.3    Commander, C.W.4    Blackman, S.M.5
  • 9
    • 78650404224 scopus 로고    scopus 로고
    • Modifier genes in Mendelian disorders: the example of cystic fibrosis
    • Cutting GR, (2010) Modifier genes in Mendelian disorders: the example of cystic fibrosis. Ann N Y Acad Sci 1214: 57-69.
    • (2010) Ann N Y Acad Sci , vol.1214 , pp. 57-69
    • Cutting, G.R.1
  • 10
    • 24644509417 scopus 로고    scopus 로고
    • Polymorphism of the MUC1 mucin gene is associated with susceptibility to lung adenocarcinoma and poor prognosis
    • Mitsuta K, Yokoyama A, Kondo K, Nakajima M, Arita K, et al. (2005) Polymorphism of the MUC1 mucin gene is associated with susceptibility to lung adenocarcinoma and poor prognosis. Oncol Rep 14: 185-189.
    • (2005) Oncol Rep , vol.14 , pp. 185-189
    • Mitsuta, K.1    Yokoyama, A.2    Kondo, K.3    Nakajima, M.4    Arita, K.5
  • 11
    • 0036302192 scopus 로고    scopus 로고
    • Altered expression and allelic association of the hypervariable membrane mucin, MUC1, in Helicobacter pylori gastritis
    • Vinall LE, King M, Novelli M, Green CA, Daniels G, et al. (2002) Altered expression and allelic association of the hypervariable membrane mucin, MUC1, in Helicobacter pylori gastritis. Gastroenterology 123: 41-49.
    • (2002) Gastroenterology , vol.123 , pp. 41-49
    • Vinall, L.E.1    King, M.2    Novelli, M.3    Green, C.A.4    Daniels, G.5
  • 15
    • 33744493930 scopus 로고    scopus 로고
    • MUC7 haplotype analysis: results from a longitudinal birth cohort support protective effect of the MUC7*5 allele on respiratory function
    • Rousseau K, Vinall LE, Butterworth SL, Hardy RJ, Holloway J, et al. (2006) MUC7 haplotype analysis: results from a longitudinal birth cohort support protective effect of the MUC7*5 allele on respiratory function. Ann Hum Genet 70: 417-427.
    • (2006) Ann Hum Genet , vol.70 , pp. 417-427
    • Rousseau, K.1    Vinall, L.E.2    Butterworth, S.L.3    Hardy, R.J.4    Holloway, J.5
  • 16
    • 0035884708 scopus 로고    scopus 로고
    • Human mucin gene MUC5AC:organization of its 5′-region and central repetitive region
    • Escande F, Aubert JP, Porchet N, Buisine MP, (2001) Human mucin gene MUC5AC:organization of its 5′-region and central repetitive region. Biochem J15 358 (P3): 763-772.
    • (2001) Biochem J15 , vol.358 , Issue.P3 , pp. 763-772
    • Escande, F.1    Aubert, J.P.2    Porchet, N.3    Buisine, M.P.4
  • 17
    • 18344415032 scopus 로고    scopus 로고
    • Variable number tandem repeat polymorphism of the mucin genes located in the complex on 11p15.5
    • Vinall LE, Hill AS, Pigny P, Pratt WS, Toribara N, et al. (1998) Variable number tandem repeat polymorphism of the mucin genes located in the complex on 11p15.5. Hum Genet 102: 357-366.
    • (1998) Hum Genet , vol.102 , pp. 357-366
    • Vinall, L.E.1    Hill, A.S.2    Pigny, P.3    Pratt, W.S.4    Toribara, N.5
  • 19
    • 80053602917 scopus 로고    scopus 로고
    • Combined Algorithms for Fitting Finite Mixture Distributions
    • Du, J, (2002) Combined Algorithms for Fitting Finite Mixture Distributions. McMaster University.
    • (2002) McMaster University
    • Du, J.1
  • 20
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: a tool set for whole-genome association and population-based linkage analyses
    • Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575.
    • (2007) Am J Hum Genet , vol.81 , pp. 559-575
    • Purcell, S.1    Neale, B.2    Todd-Brown, K.3    Thomas, L.4    Ferreira, M.A.5
  • 21
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: analysis and visualization of LD and haplotype maps
    • Barrett JC, Fry B, Maller J, Daly MJ, (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265.
    • (2005) Bioinformatics , vol.21 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4
  • 22
    • 0036155283 scopus 로고    scopus 로고
    • Score tests for association between traits and haplotypes when linkage phase is ambiguous
    • Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA, (2002) Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet 70: 425-434.
    • (2002) Am J Hum Genet , vol.70 , pp. 425-434
    • Schaid, D.J.1    Rowland, C.M.2    Tines, D.E.3    Jacobson, R.M.4    Poland, G.A.5
  • 23
    • 74249109942 scopus 로고    scopus 로고
    • MUC7 polymorphisms are associated with a decreased risk of a diagnosis of asthma in an African American population
    • Watson AM, Ngor WM, Gordish-Dressman H, Freishtat RJ, Rose MC, (2009) MUC7 polymorphisms are associated with a decreased risk of a diagnosis of asthma in an African American population. J Investig Med 57: 882-886.
    • (2009) J Investig Med , vol.57 , pp. 882-886
    • Watson, A.M.1    Ngor, W.M.2    Gordish-Dressman, H.3    Freishtat, R.J.4    Rose, M.C.5
  • 24
    • 0030048111 scopus 로고    scopus 로고
    • Two additional polymorphisms within the hypervariable MUC1 gene: association of alleles either side of the VNTR region
    • Pratt WS, Islam I, Swallow DM, (1996) Two additional polymorphisms within the hypervariable MUC1 gene: association of alleles either side of the VNTR region. Ann Hum Genet 60 (Pt 1): 21-28.
    • (1996) Ann Hum Genet , vol.60 , Issue.Pt 1 , pp. 21-28
    • Pratt, W.S.1    Islam, I.2    Swallow, D.M.3
  • 25
    • 34447632197 scopus 로고    scopus 로고
    • Allelic association and recombination hotspots in the mucin gene (MUC) complex on chromosome 11p15.5
    • Rousseau K, Byrne C, Griesinger G, Leung A, Chung A, et al. (2007) Allelic association and recombination hotspots in the mucin gene (MUC) complex on chromosome 11p15.5. Ann Hum Genet 71: 561-569.
    • (2007) Ann Hum Genet , vol.71 , pp. 561-569
    • Rousseau, K.1    Byrne, C.2    Griesinger, G.3    Leung, A.4    Chung, A.5
  • 26
    • 0035958851 scopus 로고    scopus 로고
    • Identification and topology of variant sequences within individual repeat domains of the human epithelial tumor mucin MUC1
    • Engelmann K, Baldus SE, Hanisch FG, (2001) Identification and topology of variant sequences within individual repeat domains of the human epithelial tumor mucin MUC1. J Biol Chem 276: 27764-27769.
    • (2001) J Biol Chem , vol.276 , pp. 27764-27769
    • Engelmann, K.1    Baldus, S.E.2    Hanisch, F.G.3
  • 27
    • 0242606882 scopus 로고    scopus 로고
    • Hypervariability of the membrane-associated mucin and cancer marker MUC1
    • Fowler JC, Teixeira AS, Vinall LE, Swallow DM, (2003) Hypervariability of the membrane-associated mucin and cancer marker MUC1. Hum Genet 113: 473-479.
    • (2003) Hum Genet , vol.113 , pp. 473-479
    • Fowler, J.C.1    Teixeira, A.S.2    Vinall, L.E.3    Swallow, D.M.4
  • 29
    • 41549092745 scopus 로고    scopus 로고
    • Aberrant mucin assembly in mice causes endoplasmic reticulum stress and spontaneous inflammation resembling ulcerative colitis
    • doi:10.1371/journal.pmed.0050054
    • Heazlewood CK, Cook MC, Eri R, Price GR, Tauro SB, et al. (2008) Aberrant mucin assembly in mice causes endoplasmic reticulum stress and spontaneous inflammation resembling ulcerative colitis. PLoS Med 5: e54 doi:10.1371/journal.pmed.0050054.
    • (2008) PLoS Med , vol.5
    • Heazlewood, C.K.1    Cook, M.C.2    Eri, R.3    Price, G.R.4    Tauro, S.B.5
  • 30
    • 79957618689 scopus 로고    scopus 로고
    • A novel lung disease phenotype adjusted for mortality attrition for cystic fibrosis genetic modifier studies
    • Taylor C, Commander CW, Collaco JM, Strug LJ, Li W, et al. (2011) A novel lung disease phenotype adjusted for mortality attrition for cystic fibrosis genetic modifier studies. Pediatr Pulmonol 46 (9): 857-869.
    • (2011) Pediatr Pulmonol , vol.46 , Issue.9 , pp. 857-869
    • Taylor, C.1    Commander, C.W.2    Collaco, J.M.3    Strug, L.J.4    Li, W.5
  • 31
    • 0036471129 scopus 로고    scopus 로고
    • Heterogeneity of airways mucus: variations in the amounts and glycoforms of the major oligomeric mucins MUC5AC and MUC5B
    • Kirkham S, Sheehan JK, Knight D, Richardson PS, Thornton DJ, (2002) Heterogeneity of airways mucus: variations in the amounts and glycoforms of the major oligomeric mucins MUC5AC and MUC5B. Biochem J 361: 537-546.
    • (2002) Biochem J , vol.361 , pp. 537-546
    • Kirkham, S.1    Sheehan, J.K.2    Knight, D.3    Richardson, P.S.4    Thornton, D.J.5
  • 32
    • 69549128079 scopus 로고    scopus 로고
    • MUC5AC expression is increased in bronchial submucosal glands of stable COPD patients
    • Caramori G, Casolari P, Di Gregorio C, Saetta M, Baraldo S, et al. (2009) MUC5AC expression is increased in bronchial submucosal glands of stable COPD patients. Histopathology 55: 321-331.
    • (2009) Histopathology , vol.55 , pp. 321-331
    • Caramori, G.1    Casolari, P.2    Di Gregorio, C.3    Saetta, M.4    Baraldo, S.5
  • 33
    • 34047180932 scopus 로고    scopus 로고
    • MUC5AC and MUC5B mucins increase in cystic fibrosis airway secretions during pulmonary exacerbation
    • Henke MO, John G, Germann M, Lindemann H, Rubin BK, (2007) MUC5AC and MUC5B mucins increase in cystic fibrosis airway secretions during pulmonary exacerbation. Am J Respir Crit Care Med 175: 816-821.
    • (2007) Am J Respir Crit Care Med , vol.175 , pp. 816-821
    • Henke, M.O.1    John, G.2    Germann, M.3    Lindemann, H.4    Rubin, B.K.5
  • 34
    • 33744748625 scopus 로고    scopus 로고
    • Regulation of mucin genes in chronic inflammatory airway diseases
    • Voynow JA, Gendler SJ, Rose MC, (2006) Regulation of mucin genes in chronic inflammatory airway diseases. Am J Respir Cell Mol Biol 34: 661-665.
    • (2006) Am J Respir Cell Mol Biol , vol.34 , pp. 661-665
    • Voynow, J.A.1    Gendler, S.J.2    Rose, M.C.3
  • 35
    • 79956093663 scopus 로고    scopus 로고
    • Muc5ac: a critical component mediating the rejection of enteric nematodes
    • Hasnain SZ, Evans CM, Roy M, Gallagher AL, Kindrachuk KN, et al. (2011) Muc5ac: a critical component mediating the rejection of enteric nematodes. J Exp Med 208 (5): 893-900.
    • (2011) J Exp Med , vol.208 , Issue.5 , pp. 893-900
    • Hasnain, S.Z.1    Evans, C.M.2    Roy, M.3    Gallagher, A.L.4    Kindrachuk, K.N.5
  • 36
    • 79955146233 scopus 로고    scopus 로고
    • A common MUC5B promoter polymorphism and pulmonary fibrosis
    • Seibold MA, Wise AL, Speer MC, Steele MP, Brown KK, et al. (2011) A common MUC5B promoter polymorphism and pulmonary fibrosis. N Engl J Med 364 (16): 1503-1512.
    • (2011) N Engl J Med , vol.364 , Issue.16 , pp. 1503-1512
    • Seibold, M.A.1    Wise, A.L.2    Speer, M.C.3    Steele, M.P.4    Brown, K.K.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.