메뉴 건너뛰기




Volumn 39, Issue 7, 2012, Pages 7429-7433

Detection of exon skipping events in BRCA1 RNA using MLPA kit P002

Author keywords

BRCA1; Breast cancer; Multiplex ligation probe amplification (MLPA); RNA; RNA splicing

Indexed keywords

BRCA1 PROTEIN; COMPLEMENTARY DNA; DEOXYRIBONUCLEASE I; PUROMYCIN; RNA;

EID: 84864290149     PISSN: 03014851     EISSN: 15734978     Source Type: Journal    
DOI: 10.1007/s11033-012-1575-2     Document Type: Article
Times cited : (1)

References (17)
  • 1
    • 0036207384 scopus 로고    scopus 로고
    • Listening to silence and understanding nonsense: Exonic mutations that affect splicing
    • DOI 10.1038/nrg775
    • Cartegni L, Chew SL, Krainer AR (2002) Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 3(4):285-298 (Pubitemid 34279797)
    • (2002) Nature Reviews Genetics , vol.3 , Issue.4 , pp. 285-298
    • Cartegni, L.1    Chew, S.L.2    Krainer, A.R.3
  • 2
    • 0035510173 scopus 로고    scopus 로고
    • A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees
    • Harland M, Mistry S, Bishop DT, Newton Bishop JA (2001) A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees. Hum Mol Genet 10(23):2679-2686. doi:10.1093/hmg/10.23.2679 (Pubitemid 33133409)
    • (2001) Human Molecular Genetics , vol.10 , Issue.23 , pp. 2679-2686
    • Harland, M.1    Mistry, S.2    Bishop, D.T.3    Newton Bishop, J.A.4
  • 3
    • 77950450545 scopus 로고    scopus 로고
    • The deep intronic c.903?469TC mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria
    • doi:10.1002/humu.21206
    • Homolova K, Zavadakova P, Doktor TK, Schroeder LD, Kozich V, Andresen BS (2010) The deep intronic c.903?469TC mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria. Hum Mutat 31(4):437-444. doi:10.1002/humu.21206
    • (2010) Hum Mutat , vol.31 , Issue.4 , pp. 437-444
    • Homolova, K.1    Zavadakova, P.2    Doktor, T.K.3    Schroeder, L.D.4    Kozich, V.5    Andresen, B.S.6
  • 7
    • 80052598724 scopus 로고    scopus 로고
    • Characterisation of unclassified variants in the brca1/2 genes with a putative effect on splicing
    • doi:10.1007/s10549-011-1599-7
    • Brandão RD, van Roozendaal K, Tserpelis D, García EG, Blok MJ (2011) Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing. Breast Cancer Res Treat 129(3):971-982. doi:10.1007/s10549-011-1599-7
    • (2011) Breast Cancer Res Treat , vol.129 , Issue.3 , pp. 971-982
    • Brandão, R.D.1    Van Roozendaal, K.2    Tserpelis, D.3    García, E.G.4    Blok, M.J.5
  • 8
    • 50949105626 scopus 로고    scopus 로고
    • A general definition and nomenclature for alternative splicing events
    • doi:10.1371/journal.pcbi.1000147
    • Sammeth M, Foissac S, Guigó R (2008) A general definition and nomenclature for alternative splicing events. PLoS Comput Biol 4 (8). doi:10.1371/journal.pcbi.1000147
    • (2008) PLoS Comput Biol , vol.4 , pp. 8
    • Sammeth, M.1    Foissac, S.2    Guigó, R.3
  • 9
    • 42949155147 scopus 로고    scopus 로고
    • Integrated DNA, cDNA and protein studies in Becker muscular dystrophy show high exception to the reading frame rule
    • DOI 10.1002/humu.20722
    • Kesari A, Pirra LN, Bremadesam L, McIntyre O, Gordon E, Dubrovsky AL, Viswanathan V, Hoffman EP (2008) Integrated DNA, c DNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule. Hum Mutat 29(5):728-737. doi:10.1002/humu.20722 (Pubitemid 351614598)
    • (2008) Human Mutation , vol.29 , Issue.5 , pp. 728-737
    • Kesari, A.1    Pirra, L.N.2    Bremadesam, L.3    McIntyre, O.4    Gordon, E.5    Dubrovsky, A.L.6    Viswanathan, V.7    Hoffman, E.P.8
  • 12
    • 0028884942 scopus 로고
    • A regulatory mechanism that detects premature nonsense codons in t-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro
    • doi:10.1074/jbc.270.48.28995
    • Carter MS, Doskow J, Morris P, Li S, Nhim RP, Sandstedt S, Wilkinson MF (1995) A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro. J Biol Chem 270(48):28995-29003. doi:10.1074/jbc.270.48.28995
    • (1995) J Biol Chem , vol.270 , Issue.48 , pp. 28995-29003
    • Carter, M.S.1    Doskow, J.2    Morris, P.3    Li, S.4    Nhim, R.P.5    Sandstedt, S.6    Wilkinson, M.F.7
  • 13
    • 84856430572 scopus 로고    scopus 로고
    • Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria
    • doi: 10.1111/j.1399-0004.2011.01628.x
    • Barbaro M, Kotajärvi M, Harper P, Floderus Y (2011) Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria. Clin Genet:no-no. doi: 10.1111/j.1399-0004.2011.01628.x
    • (2011) Clin Genet:no-no
    • Barbaro, M.1    Kotajärvi, M.2    Harper, P.3    Floderus, Y.4
  • 14
    • 29144480573 scopus 로고    scopus 로고
    • Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and α-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification
    • DOI 10.1136/jmg.2005.033597
    • Harteveld CL, Voskamp A, Phylipsen M, Akkermans N, den Dunnen JT, White SJ, Giordano PC (2005) Nine unknown rearrangements in 16p13.3 and 11p15.4 causing a and b-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J Med Genet 42(12):922-931. doi: 10.1136/jmg.2005.033597 (Pubitemid 41811314)
    • (2005) Journal of Medical Genetics , vol.42 , Issue.12 , pp. 922-931
    • Harteveld, C.L.1    Voskamp, A.2    Phylipsen, M.3    Akkermans, N.4    Den Dunnen, J.T.5    White, S.J.6    Giordano, P.C.7
  • 17
    • 75349100601 scopus 로고    scopus 로고
    • Targeted next-gen eration sequencing of a cancer transcriptome enhances detection of sequence variants and novel fusion transcripts
    • Levin J, Berger M, Adiconis X, Rogov P, Melnikov A, Fennell T, Nusbaum C, Garraway L, Gnirke A (2009) Targeted next-gen eration sequencing of a cancer transcriptome enhances detection of sequence variants and novel fusion transcripts. Genome Biol 10(10):R115
    • (2009) Genome Biol , vol.10 , Issue.10
    • Levin, J.1    Berger, M.2    Adiconis, X.3    Rogov, P.4    Melnikov, A.5    Fennell, T.6    Nusbaum, C.7    Garraway, L.8    Gnirke, A.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.