메뉴 건너뛰기




Volumn 98, Issue 3, 1996, Pages 328-332

Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0029775114     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050217     Document Type: Article
Times cited : (17)

References (23)
  • 1
    • 0026582066 scopus 로고
    • Quantitative expression patterns of multidrug-resistance P-glycoprotein (MDRI) and differentially spliced cystic-fibrosis transmembrane-conductance regulator mRNA transcripts in human epithelia
    • Bremer S, Hoof T, Wilke M, Busche R, Scholte B, Riordan JR, Maas G, Tümmler B (1992) Quantitative expression patterns of multidrug-resistance P-glycoprotein (MDRI) and differentially spliced cystic-fibrosis transmembrane-conductance regulator mRNA transcripts in human epithelia. Eur J Biochem 206: 137-149
    • (1992) Eur J Biochem , vol.206 , pp. 137-149
    • Bremer, S.1    Hoof, T.2    Wilke, M.3    Busche, R.4    Scholte, B.5    Riordan, J.R.6    Maas, G.7    Tümmler, B.8
  • 2
    • 0028299622 scopus 로고
    • Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes
    • Chillen M, Casals T, Giménez J, Ramos MD, Palacio A, Morral N, Estivill X, Nunes V (1994) Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes. Hum Genet 93: 447-451
    • (1994) Hum Genet , vol.93 , pp. 447-451
    • Chillen, M.1    Casals, T.2    Giménez, J.3    Ramos, M.D.4    Palacio, A.5    Morral, N.6    Estivill, X.7    Nunes, V.8
  • 4
    • 0023277545 scopus 로고
    • Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
    • Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162: 156-159
    • (1987) Anal Biochem , vol.162 , pp. 156-159
    • Chomczynski, P.1    Sacchi, N.2
  • 6
    • 0027234275 scopus 로고
    • Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France
    • Claustres M, Laussel M, Desgeorges M, Giansily M, Culard JF, Razakatsara G, Demaille J (1993) Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France. Hum Mol Genet 2: 1209-1213
    • (1993) Hum Mol Genet , vol.2 , pp. 1209-1213
    • Claustres, M.1    Laussel, M.2    Desgeorges, M.3    Giansily, M.4    Culard, J.F.5    Razakatsara, G.6    Demaille, J.7
  • 7
    • 23444445720 scopus 로고
    • Identification of a 6 bp deletion (3195del6) in exon 17A of the cystic fibrosis (CFTR) gene
    • Claustres M, Laussel M, Desgeorges M, Demaille J (1994) Identification of a 6 bp deletion (3195del6) in exon 17A of the cystic fibrosis (CFTR) gene. Hum Mol Genet 3: 371
    • (1994) Hum Mol Genet , vol.3 , pp. 371
    • Claustres, M.1    Laussel, M.2    Desgeorges, M.3    Demaille, J.4
  • 8
    • 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 (1993) Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels. Nat Genet 4: 426-430
    • (1993) Nat Genet , vol.4 , pp. 426-430
    • 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
  • 9
    • 0026894335 scopus 로고
    • Skipping of exon 5 as a consequence of the 711+1 G→T mutation in the CFTR gene
    • Fonknechten N, Chomel JC, Kitzis A, Kahn A, Kaplan JC (1992) Skipping of exon 5 as a consequence of the 711+1 G→T mutation in the CFTR gene. Hum Mol Genet 1: 281-281
    • (1992) Hum Mol Genet , vol.1 , pp. 281-281
    • Fonknechten, N.1    Chomel, J.C.2    Kitzis, A.3    Kahn, A.4    Kaplan, J.C.5
  • 10
    • 0029020724 scopus 로고
    • The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test
    • Gardner RJ, Bobrow M, Roberts RG (1995) The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test. Am J Hum Genet 57: 311-320
    • (1995) Am J Hum Genet , vol.57 , pp. 311-320
    • Gardner, R.J.1    Bobrow, M.2    Roberts, R.G.3
  • 13
    • 0027298524 scopus 로고
    • Abnormal mRNA splicing resulting from three different mutations in the CFTR gene
    • Hull J, Shackleton S, Harris A (1993) Abnormal mRNA splicing resulting from three different mutations in the CFTR gene. Hum Mol Genet 2: 689-692
    • (1993) Hum Mol Genet , vol.2 , pp. 689-692
    • Hull, J.1    Shackleton, S.2    Harris, A.3
  • 14
    • 0028272099 scopus 로고
    • Analysis of mutations and alternative splicing patterns in the CFTR gene using mRNA derived from nasal epithelial cells
    • Hull J, Shackleton S, Harris A (1994) Analysis of mutations and alternative splicing patterns in the CFTR gene using mRNA derived from nasal epithelial cells. Hum Mol Genet 3: 1141-1146
    • (1994) Hum Mol Genet , vol.3 , pp. 1141-1146
    • Hull, J.1    Shackleton, S.2    Harris, A.3
  • 16
    • 0028339374 scopus 로고
    • Two novel rare frameshift mutations (2423delG in exon 13 and 1215delG in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis
    • Romey MC, Desgeorges M, Laussel M, Durand MF, Demaille J, Claustres M (1994) Two novel rare frameshift mutations (2423delG in exon 13 and 1215delG in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis. Hum Mol Genet 3: 1003-1004
    • (1994) Hum Mol Genet , vol.3 , pp. 1003-1004
    • Romey, M.C.1    Desgeorges, M.2    Laussel, M.3    Durand, M.F.4    Demaille, J.5    Claustres, M.6
  • 17
    • 0026800854 scopus 로고
    • Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts
    • Slomski R, Schloesser M, Berg LP, Wagner M, Kakkar VV, Cooper DN, Reiss J (1992) Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts. Hum Genet 89: 615-619
    • (1992) Hum Genet , vol.89 , pp. 615-619
    • Slomski, R.1    Schloesser, M.2    Berg, L.P.3    Wagner, M.4    Kakkar, V.V.5    Cooper, D.N.6    Reiss, J.7
  • 18
    • 0029144051 scopus 로고
    • Protein truncation test: Analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation
    • Tuffery S, Lenk U, Roberts RG, Coubes C, Demaille J, Claustres M (1995) Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation. Hum Mutat 6: 126-135
    • (1995) Hum Mutat , vol.6 , pp. 126-135
    • Tuffery, S.1    Lenk, U.2    Roberts, R.G.3    Coubes, C.4    Demaille, J.5    Claustres, M.6
  • 19
    • 0027162649 scopus 로고
    • Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis
    • Welsh MJ, Smith AE (1993) Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 73: 1251-1254
    • (1993) Cell , vol.73 , pp. 1251-1254
    • Welsh, M.J.1    Smith, A.E.2
  • 20
    • 0027298830 scopus 로고
    • Alternative splicing in the first nucleotide binding fold of CFTR
    • Will K, Stuhrmann M, Dean M, Schmidtke J (1993) Alternative splicing in the first nucleotide binding fold of CFTR. Hum Mol Genet 2: 231-235
    • (1993) Hum Mol Genet , vol.2 , pp. 231-235
    • Will, K.1    Stuhrmann, M.2    Dean, M.3    Schmidtke, J.4
  • 21
    • 0028932916 scopus 로고
    • Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients
    • Will K, Dörk T, Stuhrmann M, Hardt H von der, Ellemunter H, Tümmler B, Schmidtke J (1995) Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients. Hum Mutat 5: 210-220
    • (1995) Hum Mutat , vol.5 , pp. 210-220
    • Will, K.1    Dörk, T.2    Stuhrmann, M.3    Von der Hardt, H.4    Ellemunter, H.5    Tümmler, B.6    Schmidtke, J.7
  • 23
    • 0027392872 scopus 로고
    • Alternative splicing of intron 23 of the human cystic fibrosis transmembrane conductance regulator coding for a shortened intracytoplasmic C terminus
    • Yoshimura K, Chu CS, Crystal RG (1993) Alternative splicing of intron 23 of the human cystic fibrosis transmembrane conductance regulator coding for a shortened intracytoplasmic C terminus. J Biol Chem 268: 686-690
    • (1993) J Biol Chem , vol.268 , pp. 686-690
    • Yoshimura, K.1    Chu, C.S.2    Crystal, R.G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.