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Volumn 94, Issue 6, 2010, Pages 2122-2127

Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens

Author keywords

CBAVD; CF; CFTR; Congenital bilateral absence of the vas deferens; cystic fibrosis; EDNRA; modifier gene; TGF

Indexed keywords

ENDOTHELIN RECEPTOR; ENDOTHELIN RECEPTOR TYPE A; GENOMIC DNA; TRANSFORMING GROWTH FACTOR BETA1; TRANSMEMBRANE CONDUCTANCE REGULATOR; UNCLASSIFIED DRUG;

EID: 78049277842     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2009.11.044     Document Type: Article
Times cited : (20)

References (47)
  • 1
    • 47049115524 scopus 로고    scopus 로고
    • Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report
    • P.M. Farrell, B.J. Rosenstein, T.B. White, F.J. Accurso, C. Castellani, and G.R. Cutting Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report J Pediat 153 2008 S4 14
    • (2008) J Pediat , vol.153 , pp. 4-14
    • Farrell, P.M.1    Rosenstein, B.J.2    White, T.B.3    Accurso, F.J.4    Castellani, C.5    Cutting, G.R.6
  • 6
    • 78049270162 scopus 로고
    • Cystic fibrosis mutation database the hospital for sick children
    • Genetics and Genomics Biology Toronto
    • Cystic Fibrosis Mutation Database The Hospital for Sick Children 1989 Genetics and Genomics Biology Toronto Available at http://www.genet.sickkids.on. ca/cftr/app Accessed on August 25, 2008
    • (1989) The Hospital for Sick Children
  • 7
    • 33745204656 scopus 로고    scopus 로고
    • Atypical CF and CF related diseases
    • E. Kerem Atypical CF and CF related diseases Paediat Respiratory Rev 7 Suppl 1 2006 S144 S146
    • (2006) Paediat Respiratory Rev , vol.7 , Issue.SUPPL. 1
    • Kerem, E.1
  • 8
    • 0036117693 scopus 로고    scopus 로고
    • June 3, 2000. Classification of cystic fibrosis and related disorders
    • Report of a joint WHO/ICF(M)A/ECFTN meeting S, Sweden
    • Report of a joint WHO/ICF(M)A/ECFTN meeting S, Sweden June 3, 2000. Classification of cystic fibrosis and related disorders J Cyst Fibros 1 2002 5 8
    • (2002) J Cyst Fibros , vol.1 , pp. 5-8
  • 9
    • 43549114493 scopus 로고    scopus 로고
    • Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
    • C. Castellani, H. Cuppens, M. Macek Jr., J.J. Cassiman, E. Kerem, and P. Durie Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice J Cyst Fibros 7 2008 179 196
    • (2008) J Cyst Fibros , vol.7 , pp. 179-196
    • Castellani, C.1    Cuppens, H.2    MacEk, Jr.M.3    Cassiman, J.J.4    Kerem, E.5    Durie, P.6
  • 10
    • 0026562867 scopus 로고
    • Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis
    • A. Anguiano, R.D. Oates, J.A. Amos, M. Dean, B. Gerrard, and C. Stewart Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis JAMA 267 1992 1794 1797
    • (1992) JAMA , vol.267 , pp. 1794-1797
    • Anguiano, A.1    Oates, R.D.2    Amos, J.A.3    Dean, M.4    Gerrard, B.5    Stewart, C.6
  • 11
    • 0033803792 scopus 로고    scopus 로고
    • Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens
    • T. Casals, L. Bassas, S. Egozcue, M.D. Ramos, J. Gimenez, and A. Segura Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens Hum Reprod 15 2000 1476 1483
    • (2000) Hum Reprod , vol.15 , pp. 1476-1483
    • Casals, T.1    Bassas, L.2    Egozcue, S.3    Ramos, M.D.4    Gimenez, J.5    Segura, A.6
  • 12
    • 34247140174 scopus 로고    scopus 로고
    • Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens
    • A. Grangeia, R. Sa, F. Carvalho, J. Martin, E. Girodon, and J. Silva Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens Genet Med 9 2007 163 172
    • (2007) Genet Med , vol.9 , pp. 163-172
    • Grangeia, A.1    Sa, R.2    Carvalho, F.3    Martin, J.4    Girodon, E.5    Silva, J.6
  • 13
    • 34250180679 scopus 로고    scopus 로고
    • Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling
    • I. Ratbi, M. Legendre, F. Niel, J. Martin, J.C. Soufir, and V. Izard Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling Hum Reprod 22 2007 1285 1291
    • (2007) Hum Reprod , vol.22 , pp. 1285-1291
    • Ratbi, I.1    Legendre, M.2    Niel, F.3    Martin, J.4    Soufir, J.C.5    Izard, V.6
  • 15
    • 5644250620 scopus 로고    scopus 로고
    • CFTR mutations and polymorphisms in male infertility
    • H. Cuppens, and J.J. Cassiman CFTR mutations and polymorphisms in male infertility Intern J Androl 27 2004 251 256
    • (2004) Intern J Androl , vol.27 , pp. 251-256
    • Cuppens, H.1    Cassiman, J.J.2
  • 18
    • 11344275763 scopus 로고    scopus 로고
    • A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD)
    • A. Disset, C. Michot, A. Harris, E. Buratti, M. Claustres, and S. Tuffery-Giraud A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD) Hum Mutation 25 2005 72 81
    • (2005) Hum Mutation , vol.25 , pp. 72-81
    • Disset, A.1    Michot, C.2    Harris, A.3    Buratti, E.4    Claustres, M.5    Tuffery-Giraud, S.6
  • 19
    • 0030687683 scopus 로고    scopus 로고
    • Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens
    • DOI 10.1093/hmg/6.12.2099
    • V. Mak, K.A. Jarvi, J. Zielenski, P. Durie, and L.C. Tsui Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens Hum Mol Genet 6 1997 2099 2107 (Pubitemid 27477952)
    • (1997) Human Molecular Genetics , vol.6 , Issue.12 , pp. 2099-2107
    • Mak, V.1    Jarvi, K.A.2    Zielenski, J.3    Durie, P.4    Tsui, L.-C.5
  • 22
    • 11944253497 scopus 로고    scopus 로고
    • Molecular pathology of the CFTR locus in male infertility
    • M. Claustres Molecular pathology of the CFTR locus in male infertility Reprod Biomed Online 10 2005 14 41
    • (2005) Reprod Biomed Online , vol.10 , pp. 14-41
    • Claustres, M.1
  • 24
    • 0031667368 scopus 로고    scopus 로고
    • Association of a polymorphism of the transforming growth factor-beta1 gene with genetic susceptibility to osteoporosis in postmenopausal Japanese women
    • Y. Yamada, A. Miyauchi, J. Goto, Y. Takagi, H. Okuizumi, and M. Kanematsu Association of a polymorphism of the transforming growth factor-beta1 gene with genetic susceptibility to osteoporosis in postmenopausal Japanese women J Bone Miner Res 13 1998 1569 1576
    • (1998) J Bone Miner Res , vol.13 , pp. 1569-1576
    • Yamada, Y.1    Miyauchi, A.2    Goto, J.3    Takagi, Y.4    Okuizumi, H.5    Kanematsu, M.6
  • 25
    • 0034724167 scopus 로고    scopus 로고
    • Transforming growth factor-beta 1 hyperexpression in African-American hypertensives: A novel mediator of hypertension and/or target organ damage
    • M. Suthanthiran, B. Li, J.O. Song, R. Ding, V.K. Sharma, and J.E. Schwartz Transforming growth factor-beta 1 hyperexpression in African-American hypertensives: a novel mediator of hypertension and/or target organ damage Proc Natl Acad Sci U S A 97 2000 3479 3484
    • (2000) Proc Natl Acad Sci U S A , vol.97 , pp. 3479-3484
    • Suthanthiran, M.1    Li, B.2    Song, J.O.3    Ding, R.4    Sharma, V.K.5    Schwartz, J.E.6
  • 26
    • 0038519761 scopus 로고    scopus 로고
    • A transforming growth factorbeta1 signal peptide variant increases secretion in vitro and is associated with increased incidence of invasive breast cancer
    • A.M. Dunning, P.D. Ellis, S. McBride, H.L. Kirschenlohr, C.S. Healey, and P.R. Kemp A transforming growth factorbeta1 signal peptide variant increases secretion in vitro and is associated with increased incidence of invasive breast cancer Cancer Res 63 2003 2610 2615
    • (2003) Cancer Res , vol.63 , pp. 2610-2615
    • Dunning, A.M.1    Ellis, P.D.2    McBride, S.3    Kirschenlohr, H.L.4    Healey, C.S.5    Kemp, P.R.6
  • 27
    • 0032573136 scopus 로고    scopus 로고
    • Genotypic variation in the transforming growth factor-beta1 gene: Association with transforming growth factor-beta1 production, fibrotic lung disease, and graft fibrosis after lung transplantation
    • M.R. Awad, A. El-Gamel, P. Hasleton, D.M. Turner, P.J. Sinnott, and I.V. Hutchinson Genotypic variation in the transforming growth factor-beta1 gene: association with transforming growth factor-beta1 production, fibrotic lung disease, and graft fibrosis after lung transplantation Transplantation 66 1998 1014 1020
    • (1998) Transplantation , vol.66 , pp. 1014-1020
    • Awad, M.R.1    El-Gamel, A.2    Hasleton, P.3    Turner, D.M.4    Sinnott, P.J.5    Hutchinson, I.V.6
  • 28
    • 0034102868 scopus 로고    scopus 로고
    • TGF-beta(1) genotype and accelerated decline in lung function of patients with cystic fibrosis
    • P.D. Arkwright, S. Laurie, M. Super, V. Pravica, M.J. Schwarz, and A.K. Webb TGF-beta(1) genotype and accelerated decline in lung function of patients with cystic fibrosis Thorax 55 2000 459 462
    • (2000) Thorax , vol.55 , pp. 459-462
    • Arkwright, P.D.1    Laurie, S.2    Super, M.3    Pravica, V.4    Schwarz, M.J.5    Webb, A.K.6
  • 29
    • 78049238454 scopus 로고    scopus 로고
    • Variants in the endothelin receptor A gene associate with increased expression levels, increased cell proliferation and more severe pulmonary disease in CF females In: North American Cystic Fibrosis Conference
    • Anaheim, California, USA
    • Darrah R, Thapar V, Smith P, Goddard K, Londono D, Dunn J, et al. Variants in the endothelin receptor A gene associate with increased expression levels, increased cell proliferation and more severe pulmonary disease in CF females In: North American Cystic Fibrosis Conference. Anaheim, California, USA. Pediatric Pulmonology 2007;42:73-428.
    • (2007) Pediatric Pulmonology , vol.42 , pp. 73-428
    • Darrah, R.1    Thapar, V.2    Smith, P.3    Goddard, K.4    Londono, D.5    Dunn, J.6
  • 30
    • 78049280036 scopus 로고    scopus 로고
    • TagSNP evaluation of the endothelin pathway demonstrates genetic association between EDNRA and CF lung disease severity
    • North American Cystic Fibrosis Conference, Anaheim, California, USA
    • McKone EF, O'Connor CM, Rodgers CE, Genatossio A, McNamara S, Gibson RL, et al. TagSNP evaluation of the endothelin pathway demonstrates genetic association between EDNRA and CF lung disease severity. In: North American Cystic Fibrosis Conference. Anaheim, California, USA. Pediatric Pulmonology 2007;42:73-428.
    • (2007) Pediatric Pulmonology , vol.42 , pp. 73-428
    • McKone, E.F.1    O'Connor, C.M.2    Rodgers, C.E.3    Genatossio, A.4    McNamara, S.5    Gibson, R.L.6
  • 31
    • 0029742706 scopus 로고    scopus 로고
    • Transforming growth factor-beta: A general review
    • D.A. Lawrence Transforming growth factor-beta: a general review Europ Cytokine Network 7 1996 363 374
    • (1996) Europ Cytokine Network , vol.7 , pp. 363-374
    • Lawrence, D.A.1
  • 32
    • 0037961650 scopus 로고    scopus 로고
    • New views on the role of endothelin (minireview)
    • A. Goraca New views on the role of endothelin (minireview) Endocrine Reg 36 2002 161 167
    • (2002) Endocrine Reg , vol.36 , pp. 161-167
    • Goraca, A.1
  • 33
    • 45749144284 scopus 로고    scopus 로고
    • Sputum levels of transforming growth factor-beta1 in asthma: Relation to clinical and computed tomography findings
    • M. Yamaguchi, A. Niimi, H. Matsumoto, T. Ueda, M. Takemura, and H. Matsuoka Sputum levels of transforming growth factor-beta1 in asthma: relation to clinical and computed tomography findings J Investig Allergol Clin Immunol 18 2008 202 206
    • (2008) J Investig Allergol Clin Immunol , vol.18 , pp. 202-206
    • Yamaguchi, M.1    Niimi, A.2    Matsumoto, H.3    Ueda, T.4    Takemura, M.5    Matsuoka, H.6
  • 34
    • 0033072844 scopus 로고    scopus 로고
    • Putative mediator role of endothelin-1 in asthma and other lung diseases
    • D.W. Hay Putative mediator role of endothelin-1 in asthma and other lung diseases Clin Exper Pharmacol Physiol 26 1999 168 171
    • (1999) Clin Exper Pharmacol Physiol , vol.26 , pp. 168-171
    • Hay, D.W.1
  • 35
    • 0028222602 scopus 로고
    • Immunohistochemical localization of transforming growth factor-beta 1 in the lungs of patients with systemic sclerosis, cryptogenic fibrosing alveolitis and other lung disorders
    • B. Corrin, D. Butcher, B.J. McAnulty, R.M. Dubois, C.M. Black, and G.J. Laurent Immunohistochemical localization of transforming growth factor-beta 1 in the lungs of patients with systemic sclerosis, cryptogenic fibrosing alveolitis and other lung disorders Histopathology 24 1994 145 150
    • (1994) Histopathology , vol.24 , pp. 145-150
    • Corrin, B.1    Butcher, D.2    McAnulty, B.J.3    Dubois, R.M.4    Black, C.M.5    Laurent, G.J.6
  • 36
    • 0034604110 scopus 로고    scopus 로고
    • Role of transforming growth factor beta in human disease
    • G.C. Blobe, W.P. Schiemann, and H.F. Lodish Role of transforming growth factor beta in human disease N Engl J Med 342 2000 1350 1358
    • (2000) N Engl J Med , vol.342 , pp. 1350-1358
    • Blobe, G.C.1    Schiemann, W.P.2    Lodish, H.F.3
  • 38
    • 34347228684 scopus 로고    scopus 로고
    • Endothelin-1 induces alveolar epithelial-mesenchymal transition through endothelin type A receptor-mediated production of TGF-beta1
    • R. Jain, P.W. Shaul, Z. Borok, and B.C. Willis Endothelin-1 induces alveolar epithelial-mesenchymal transition through endothelin type A receptor-mediated production of TGF-beta1 Am J Respir Cell Mol Biol 37 2007 38 47
    • (2007) Am J Respir Cell Mol Biol , vol.37 , pp. 38-47
    • Jain, R.1    Shaul, P.W.2    Borok, Z.3    Willis, B.C.4
  • 39
    • 78049245195 scopus 로고    scopus 로고
    • Tewantin, Australia Available at Lastaccessed:January11,2010
    • Technelysium Pty Ltd Chromas Lite Freeware. Tewantin, Australia, 2005. Available at: http://www.technelysium.com.au/chromas
    • (2005) Technelysium Pty Ltd Chromas Lite Freeware
  • 40
    • 0027968068 scopus 로고
    • CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice
    • J.D. Thompson, D.G. Higgins, and T.J. Gibson CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice Nucl Acids Res 22 1994 4673 4680
    • (1994) Nucl Acids Res , vol.22 , pp. 4673-4680
    • Thompson, J.D.1    Higgins, D.G.2    Gibson, T.J.3
  • 41
    • 0030609894 scopus 로고    scopus 로고
    • TGFbeta2 knockout mice have multiple developmental defects that are non-overlapping with other TGFbeta knockout phenotypes
    • L.P. Sanford, I. Ormsby, A.C. Gittenberger-de Groot, H. Sariola, R. Friedman, and G.P. Boivin TGFbeta2 knockout mice have multiple developmental defects that are non-overlapping with other TGFbeta knockout phenotypes Development 124 1997 2659 2670
    • (1997) Development , vol.124 , pp. 2659-2670
    • Sanford, L.P.1    Ormsby, I.2    Gittenberger-De Groot, A.C.3    Sariola, H.4    Friedman, R.5    Boivin, G.P.6
  • 42
    • 0037979081 scopus 로고    scopus 로고
    • Heart and liver defects and reduced transforming growth factor beta2 sensitivity in transforming growth factor beta type III receptor-deficient embryos
    • K.L. Stenvers, M.L. Tursky, K.W. Harder, N. Kountouri, S. Amatayakul-Chantler, and D. Grail Heart and liver defects and reduced transforming growth factor beta2 sensitivity in transforming growth factor beta type III receptor-deficient embryos Mol Cell Biol 23 2003 4371 4385
    • (2003) Mol Cell Biol , vol.23 , pp. 4371-4385
    • Stenvers, K.L.1    Tursky, M.L.2    Harder, K.W.3    Kountouri, N.4    Amatayakul-Chantler, S.5    Grail, D.6
  • 44
    • 6944233518 scopus 로고    scopus 로고
    • Endothelin-A receptor-dependent and -independent signaling pathways in establishing mandibular identity
    • L.B. Ruest, X. Xiang, K.C. Lim, G. Levi, and D.E. Clouthier Endothelin-A receptor-dependent and -independent signaling pathways in establishing mandibular identity Development 131 2004 4413 4423
    • (2004) Development , vol.131 , pp. 4413-4423
    • Ruest, L.B.1    Xiang, X.2    Lim, K.C.3    Levi, G.4    Clouthier, D.E.5
  • 45
    • 0042526056 scopus 로고    scopus 로고
    • Involvement of endothelin receptors in normal and pathological development of neural crest cells
    • P. Pla, and L. Larue Involvement of endothelin receptors in normal and pathological development of neural crest cells Intern J Dev Biol 47 2003 315 325
    • (2003) Intern J Dev Biol , vol.47 , pp. 315-325
    • Pla, P.1    Larue, L.2
  • 46
    • 34347348116 scopus 로고    scopus 로고
    • Association of endothelin-beta receptor (EDNRB) gene variants in anorectal malformations
    • S.W. Moore, and M.G. Zaahl Association of endothelin-beta receptor (EDNRB) gene variants in anorectal malformations J Pediat Surg 42 2007 1266 1270
    • (2007) J Pediat Surg , vol.42 , pp. 1266-1270
    • Moore, S.W.1    Zaahl, M.G.2
  • 47
    • 33746027408 scopus 로고    scopus 로고
    • Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development
    • L. Stanchina, V. Baral, F. Robert, V. Pingault, N. Lemort, and V. Pachnis Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development Dev Biol 295 2006 232 249
    • (2006) Dev Biol , vol.295 , pp. 232-249
    • Stanchina, L.1    Baral, V.2    Robert, F.3    Pingault, V.4    Lemort, N.5    Pachnis, V.6


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