메뉴 건너뛰기




Volumn 14, Issue 12, 2008, Pages 1925-1930

Comparative analysis of common CFTR polymorphisms poly-T, TG-repeats and M470V in a healthy Chinese population

Author keywords

Cystic fibrosis transmembrane conductance regulator gene; Gene polymorphism; M470V; Poly T; TG repeats

Indexed keywords

POLYTHYMIDYLIC ACID; PROTEIN HPH 1; RESTRICTION ENDONUCLEASE; TRANSMEMBRANE CONDUCTANCE REGULATOR; UNCLASSIFIED DRUG;

EID: 42149174289     PISSN: 10079327     EISSN: None     Source Type: Journal    
DOI: 10.3748/wjg.14.1925     Document Type: Article
Times cited : (15)

References (32)
  • 2
    • 0032912589 scopus 로고    scopus 로고
    • Structure and function of the CFTR chloride channel
    • Sheppard DN, Welsh MJ. Structure and function of the CFTR chloride channel. Physiol Rev 1999; 79: S23-S45
    • (1999) Physiol Rev , vol.79
    • Sheppard, D.N.1    Welsh, M.J.2
  • 3
    • 0028906612 scopus 로고
    • The two nucleotide-binding domains of cystic fibrosis transmembrane conductance regulator (CFTR) have distinct functions in controlling channel activity
    • Carson MR, Travis SM, Welsh MJ. The two nucleotide-binding domains of cystic fibrosis transmembrane conductance regulator (CFTR) have distinct functions in controlling channel activity. J Biol Chem 1995; 270: 1711-1717
    • (1995) J Biol Chem , vol.270 , pp. 1711-1717
    • Carson, M.R.1    Travis, S.M.2    Welsh, M.J.3
  • 4
    • 0024988766 scopus 로고
    • Abnormal distribution of CF delta F508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens
    • Dumur V, Gervais R, Rigot JM, Lafitte JJ, Manouvrier S, Biserte J, Mazeman E, Roussel P. Abnormal distribution of CF delta F508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens. Lancet 1990; 336: 512
    • (1990) Lancet , vol.336 , pp. 512
    • Dumur, V.1    Gervais, R.2    Rigot, J.M.3    Lafitte, J.J.4    Manouvrier, S.5    Biserte, J.6    Mazeman, E.7    Roussel, P.8
  • 6
    • 0028958565 scopus 로고
    • Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis
    • Pignatti PF, Bombieri C, Mango C, Benetazzo M, Luisetti M. Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis. Hum Mol Genet 1995; 4: 635-639
    • (1995) Hum Mol Genet , vol.4 , pp. 635-639
    • Pignatti, P.F.1    Bombieri, C.2    Mango, C.3    Benetazzo, M.4    Luisetti, M.5
  • 8
    • 84876268257 scopus 로고    scopus 로고
    • Database. http://www.genet.sickkids.on.ca/cgi-bin/WebObjects/ MUTATION
    • Database
  • 11
    • 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
  • 13
    • 0035070082 scopus 로고    scopus 로고
    • CFTR gene mutations - including three novel nucleotide substitutions - and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease
    • Tzetis M, Efthymiadou A, Strofalis S, Psychou P, Dimakou A, Pouliou E, Doudounakis S, Kanavakis E. CFTR gene mutations - including three novel nucleotide substitutions - and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease. Hum Genet 2001; 108: 216-221
    • (2001) Hum Genet , vol.108 , pp. 216-221
    • Tzetis, M.1    Efthymiadou, A.2    Strofalis, S.3    Psychou, P.4    Dimakou, A.5    Pouliou, E.6    Doudounakis, S.7    Kanavakis, E.8
  • 18
    • 0031960072 scopus 로고    scopus 로고
    • Cystic fibrosis mutation screening in CBAVD patients and men with obstructive azoospermia or severe oligozoospermia
    • Kanavakis E, Tzetis M, Antoniadi T, Pistofidis G, Milligos S, Kattamis C. Cystic fibrosis mutation screening in CBAVD patients and men with obstructive azoospermia or severe oligozoospermia. Mol Hum Reprod 1998; 4: 333-337
    • (1998) Mol Hum Reprod , vol.4 , pp. 333-337
    • Kanavakis, E.1    Tzetis, M.2    Antoniadi, T.3    Pistofidis, G.4    Milligos, S.5    Kattamis, C.6
  • 19
    • 0036048717 scopus 로고    scopus 로고
    • Mutations and polymorphisms in CFTR genes in infertile men with oligospermia or azoospermia
    • Kusic J, Radojkovic D, Maletic V, Brankovic S, Savic A. Mutations and polymorphisms in CFTR genes in infertile men with oligospermia or azoospermia. Srp Arh Celok Lek 2002; 130: 1-6
    • (2002) Srp Arh Celok Lek , vol.130 , pp. 1-6
    • Kusic, J.1    Radojkovic, D.2    Maletic, V.3    Brankovic, S.4    Savic, A.5
  • 20
    • 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
  • 24
    • 0033740316 scopus 로고    scopus 로고
    • Polymorphism of cystic fibrosis gene in Japanese patients with chronic pancreatitis
    • Kimura S, Okabayashi Y, Inushima K, Yutsudo Y, Kasuga M. Polymorphism of cystic fibrosis gene in Japanese patients with chronic pancreatitis. Dig Dis Sci 2000; 45: 2007-2012
    • (2000) Dig Dis Sci , vol.45 , pp. 2007-2012
    • Kimura, S.1    Okabayashi, Y.2    Inushima, K.3    Yutsudo, Y.4    Kasuga, M.5
  • 25
    • 0032759617 scopus 로고    scopus 로고
    • Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: Cystic fibrosis mutations are not involved in healthy men with reduced sperm quality
    • Pallares-Ruiz N, Carles S, Des Georges M, Guittard C, Arnal F, Humeau C, Claustres M. Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality. Hum Reprod 1999; 14: 3035-3040
    • (1999) Hum Reprod , vol.14 , pp. 3035-3040
    • Pallares-Ruiz, N.1    Carles, S.2    Des Georges, M.3    Guittard, C.4    Arnal, F.5    Humeau, C.6    Claustres, M.7
  • 26
    • 9144235448 scopus 로고    scopus 로고
    • Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, Pignatti PF, Kanavakis E, Tzetis M, Schwartz M, Novelli G, D'Apice MR, Sobczynska-Tomaszewska A, Bal J, Stuhrmann M, Macek M Jr, Claustres M, Cutting GR. 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
    • Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, Pignatti PF, Kanavakis E, Tzetis M, Schwartz M, Novelli G, D'Apice MR, Sobczynska-Tomaszewska A, Bal J, Stuhrmann M, Macek M Jr, Claustres M, Cutting GR. 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
  • 29
    • 0028140183 scopus 로고
    • Exon 9 of the CFTR gene: Splice site haplotypes and cystic fibrosis mutations
    • Dork T, Fislage R, Neumann T, Wulf B, Tummler B. Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations. Hum Genet 1994; 93: 67-73
    • (1994) Hum Genet , vol.93 , pp. 67-73
    • Dork, T.1    Fislage, R.2    Neumann, T.3    Wulf, B.4    Tummler, B.5
  • 30
    • 0029758296 scopus 로고    scopus 로고
    • CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France
    • Claustres M, Desgeorges M, Moine P, Morrai N, Estivill X. CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France. Hum Genet 1996; 98: 336-344
    • (1996) Hum Genet , vol.98 , pp. 336-344
    • Claustres, M.1    Desgeorges, M.2    Moine, P.3    Morrai, N.4    Estivill, X.5
  • 31
    • 0034640496 scopus 로고    scopus 로고
    • Suppressive interactions between mutations located in the two nucleotide binding domains of CFTR
    • Wei L, Vankeerberghen A, Jaspers M, Cassiman J, Nilius B, Cuppens H. Suppressive interactions between mutations located in the two nucleotide binding domains of CFTR. FEBS Lett 2000; 473: 149-153
    • (2000) FEBS Lett , vol.473 , pp. 149-153
    • Wei, L.1    Vankeerberghen, A.2    Jaspers, M.3    Cassiman, J.4    Nilius, B.5    Cuppens, H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.