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Volumn 28, Issue 4, 2007, Pages 541-547

Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens

Author keywords

CBAVD; CFTR; IVS8 5T; Male infertility

Indexed keywords

3' UNTRANSLATED REGION; ALLELE; ARTICLE; AZOOSPERMIA; CFTR GENE; CONGENITAL BILATERAL ABSENCE OF THE VAS DEFERENS; CONTROLLED STUDY; EXON; GENE; GENE ACTIVATION; GENE DELETION; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; HUMAN; INTRON; IRAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RNA SPLICING;

EID: 34447311925     PISSN: 01963635     EISSN: None     Source Type: Journal    
DOI: 10.2164/jandrol.106.002337     Document Type: Article
Times cited : (29)

References (29)
  • 1
    • 0037765332 scopus 로고    scopus 로고
    • CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens
    • Anzai C, Morokawa N, Okada H, Kamidono S, Eto Y, Yoshimura K. CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens. J Cyst Fibros. 2003;2:14-18.
    • (2003) J Cyst Fibros , vol.2 , pp. 14-18
    • Anzai, C.1    Morokawa, N.2    Okada, H.3    Kamidono, S.4    Eto, Y.5    Yoshimura, K.6
  • 2
    • 0027295745 scopus 로고
    • A suggested nomenclature for designating mutations
    • Beaudet AL, Tsui LC. A suggested nomenclature for designating mutations. Hum Mutat. 1993;2:245-248.
    • (1993) Hum Mutat , vol.2 , pp. 245-248
    • Beaudet, A.L.1    Tsui, L.C.2
  • 3
    • 0035965309 scopus 로고    scopus 로고
    • Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43. a novel splicing regulator of CFTR exon 9
    • Buratti E, Baralle FE. Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43. a novel splicing regulator of CFTR exon 9. J Biol Chem. 2001;276: 36337-36343.
    • (2001) J Biol Chem , vol.276 , pp. 36337-36343
    • Buratti, E.1    Baralle, F.E.2
  • 4
    • 0033033312 scopus 로고    scopus 로고
    • Variable levels of normal RNA in different fetal organs carrying a cystic fibrosis transmembrane conductance regulator splicing mutation
    • Chiba-Falek O, Parad RB, Kerem E, Kerem B. Variable levels of normal RNA in different fetal organs carrying a cystic fibrosis transmembrane conductance regulator splicing mutation. Am J Respir Crit Care Med. 1999;159:1998-2002.
    • (1999) Am J Respir Crit Care Med , vol.159 , pp. 1998-2002
    • Chiba-Falek, O.1    Parad, R.B.2    Kerem, E.3    Kerem, B.4
  • 6
    • 0027502580 scopus 로고
    • Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
    • Chu CS, Trapnell BC, Curristin S, Cutting GR, Crystal RG. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet. 1993;3:151-156.
    • (1993) Nat Genet , vol.3 , pp. 151-156
    • Chu, C.S.1    Trapnell, B.C.2    Curristin, S.3    Cutting, G.R.4    Crystal, R.G.5
  • 7
    • 0025906695 scopus 로고
    • Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium
    • Chu CS, Trapnell BC, Murtagh JJ, Moss J, Dalemans W, Jallat S, Mercenier A, Pavirani A, Lecocq JP, Cutting GR. Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium. EMBO J. 1991;10:1355-1363.
    • (1991) EMBO J , vol.10 , pp. 1355-1363
    • Chu, C.S.1    Trapnell, B.C.2    Murtagh, J.J.3    Moss, J.4    Dalemans, W.5    Jallat, S.6    Mercenier, A.7    Pavirani, A.8    Lecocq, J.P.9    Cutting, G.R.10
  • 8
    • 0033860259 scopus 로고    scopus 로고
    • Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
    • Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, et al. (2000). Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Hum Mutat. 2000;16:143-156.
    • (2000) Hum Mutat , vol.2000 , Issue.16 , pp. 143-156
    • Claustres, M.1    Guittard, C.2    Bozon, D.3    Chevalier, F.4    Verlingue, C.5
  • 9
    • 0028281799 scopus 로고
    • Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens
    • Culard JF, Desgeorges M, Costa P, Laussel M, Razakatzara G, Navratil H, Demaille J, Claustres M. Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens. Hum Genet. 1994;93:467-470.
    • (1994) Hum Genet , vol.93 , pp. 467-470
    • Culard, J.F.1    Desgeorges, M.2    Costa, P.3    Laussel, M.4    Razakatzara, G.5    Navratil, H.6    Demaille, J.7    Claustres, M.8
  • 12
    • 0003452177 scopus 로고    scopus 로고
    • Available at: .on.ca/cftr/. Accessed March 2, 2007
    • Cystic Fibrosis Mutation Database. Available at: http://www.genet. sickkids.on.ca/cftr/. Accessed March 2, 2007.
    • Cystic Fibrosis Mutation Database
  • 13
    • 2442519310 scopus 로고    scopus 로고
    • Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens
    • Dayangac D, Erdem H, Yilmaz E, Sahin A, Sohn C, Ozguc M, Dork T. Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens. Hum Reprod. 2004;19: 1094-1100.
    • (2004) Hum Reprod , vol.19 , pp. 1094-1100
    • Dayangac, D.1    Erdem, H.2    Yilmaz, E.3    Sahin, A.4    Sohn, C.5    Ozguc, M.6    Dork, T.7
  • 14
    • 0027249601 scopus 로고
    • Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels
    • Delaney SJ, Rich DP, Thomson SA, Hargrave MR, Lovelock PK, Welsh MJ, Wainwright BJ. Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels. Nat Genet. 1993;4:426-431.
    • (1993) Nat Genet , vol.4 , pp. 426-431
    • Delaney, S.J.1    Rich, D.P.2    Thomson, S.A.3    Hargrave, M.R.4    Lovelock, P.K.5    Welsh, M.J.6    Wainwright, B.J.7
  • 16
    • 13544251608 scopus 로고    scopus 로고
    • A novel missense mutation P1290S at exon-20 of the CFTR gene in a Portuguese patient with congenital bilateral absence of the vas deferens
    • Grangeia A, Carvalho F, Fernandes S, Silva J, Sousa M, Barros A. A novel missense mutation P1290S at exon-20 of the CFTR gene in a Portuguese patient with congenital bilateral absence of the vas deferens. Fertil Steril. 2005;83:448-451.
    • (2005) Fertil Steril , vol.83 , pp. 448-451
    • Grangeia, A.1    Carvalho, F.2    Fernandes, S.3    Silva, J.4    Sousa, M.5    Barros, A.6
  • 17
    • 9144235448 scopus 로고    scopus 로고
    • Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign
    • Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, et al. (2004). Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet. 2004;74:176-179.
    • (2004) Am J Hum Genet , vol.2004 , Issue.74 , pp. 176-179
    • Groman, J.D.1    Hefferon, T.W.2    Casals, T.3    Bassas, L.4    Estivill, X.5
  • 20
    • 0032772838 scopus 로고    scopus 로고
    • Two buffer PAGE system-based SSCP/HD analysis: A general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease
    • Liechti-Gallati S, Schneider V, Neeser D, Kraemer R. Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease. Eur J Hum Genet. 1999;7:590-598.
    • (1999) Eur J Hum Genet , vol.7 , pp. 590-598
    • Liechti-Gallati, S.1    Schneider, V.2    Neeser, D.3    Kraemer, R.4
  • 21
    • 0032756818 scopus 로고    scopus 로고
    • Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9
    • Niksic M, Romano M, Buratti E, Pagani F, Baralle FE. Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9. Hum Mol Genet. 1999;8:2339-2349.
    • (1999) Hum Mol Genet , vol.8 , pp. 2339-2349
    • Niksic, M.1    Romano, M.2    Buratti, E.3    Pagani, F.4    Baralle, F.E.5
  • 22
    • 0033852601 scopus 로고    scopus 로고
    • Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations
    • Nissim-Rafinia M, Chiba-Falek O, Sharon G, Boss A, Kerem B. Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations. Hum Mol Genet. 2000;9:1771-1778.
    • (2000) Hum Mol Genet , vol.9 , pp. 1771-1778
    • Nissim-Rafinia, M.1    Chiba-Falek, O.2    Sharon, G.3    Boss, A.4    Kerem, B.5
  • 23
    • 0034647916 scopus 로고    scopus 로고
    • Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element
    • Pagani F, Buratti E, Stuani C, Romano M, Zuccato E, Niksic M, Giglio L, Faraguna D, Baralle FE. Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element. J Biol Chem. 2000;275:21041-21047.
    • (2000) J Biol Chem , vol.275 , pp. 21041-21047
    • Pagani, F.1    Buratti, E.2    Stuani, C.3    Romano, M.4    Zuccato, E.5    Niksic, M.6    Giglio, L.7    Faraguna, D.8    Baralle, F.E.9
  • 24
    • 33747882181 scopus 로고    scopus 로고
    • Molecular analysis of the IVS8-T splice variant 5T and M470V exon 10 missense polymorphism in Iranian males with congenital bilateral absence of vas deferens
    • Radpour R, Sadighi Gilani MA, Gourabi H, Vosough Dizaj A, Mollamohamadi S. Molecular analysis of the IVS8-T splice variant 5T and M470V exon 10 missense polymorphism in Iranian males with congenital bilateral absence of vas deferens. Mol Hum Reprod. 2006a;12:469-473.
    • (2006) Mol Hum Reprod , vol.12 , pp. 469-473
    • Radpour, R.1    Sadighi Gilani, M.A.2    Gourabi, H.3    Vosough Dizaj, A.4    Mollamohamadi, S.5
  • 25
    • 33750222991 scopus 로고    scopus 로고
    • Two novel missense and one novel nonsense CFTR mutations in Iranian males with congenital bilateral absence of the vas deferens
    • Radpour R, Sadighi Gilani MA, Gourabi H, Vosough Dizaj A, Rezaee M, Mollamohamadi S. Two novel missense and one novel nonsense CFTR mutations in Iranian males with congenital bilateral absence of the vas deferens. Mol Hum Reprod. 2006b;12:717-721.
    • (2006) Mol Hum Reprod , vol.12 , pp. 717-721
    • Radpour, R.1    Sadighi Gilani, M.A.2    Gourabi, H.3    Vosough Dizaj, A.4    Rezaee, M.5    Mollamohamadi, S.6
  • 26
    • 0013235689 scopus 로고    scopus 로고
    • Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina
    • Timmreck LS, Gray MR, Handelin B, Allito B, Rohlfs E, Davis AJ, Gidwani G, Reindollar RH. Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina. Am J Med Genet. 2003;120:72-76.
    • (2003) Am J Med Genet , vol.120 , pp. 72-76
    • Timmreck, L.S.1    Gray, M.R.2    Handelin, B.3    Allito, B.4    Rohlfs, E.5    Davis, A.J.6    Gidwani, G.7    Reindollar, R.H.8
  • 28
    • 1242318768 scopus 로고    scopus 로고
    • Cystic fibrosis transmembrane conductance regulator gene screening and clinical correlation in Taiwanese males with congenital bilateral absence of the vas deferens
    • Wu CC, Hsieh-Li HM, Lin YM, Chiang HS. Cystic fibrosis transmembrane conductance regulator gene screening and clinical correlation in Taiwanese males with congenital bilateral absence of the vas deferens. Hum Reprod. 2004;19:250-253.
    • (2004) Hum Reprod , vol.19 , pp. 250-253
    • Wu, C.C.1    Hsieh-Li, H.M.2    Lin, Y.M.3    Chiang, H.S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.