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Volumn 107, Issue 7, 2006, Pages 2759-2765

Lack of F8 mRNA: A novel mechanism leading to hemophilia A

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; MESSENGER RNA;

EID: 33645533252     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2005-09-3702     Document Type: Article
Times cited : (25)

References (23)
  • 1
    • 0031804517 scopus 로고    scopus 로고
    • The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4
    • Kemball-Cook G, Tuddenham EG, Wacey AI. The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4. Nucleic Acids Res. 1998;26:216-219.
    • (1998) Nucleic Acids Res , vol.26 , pp. 216-219
    • Kemball-Cook, G.1    Tuddenham, E.G.2    Wacey, A.I.3
  • 2
    • 0027520025 scopus 로고
    • Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
    • Lakich D, Kazazian HH Jr, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet. 1993;5:236-241.
    • (1993) Nat Genet , vol.5 , pp. 236-241
    • Lakich, D.1    Kazazian Jr., H.H.2    Antonarakis, S.E.3    Gitschier, J.4
  • 3
    • 0029830215 scopus 로고    scopus 로고
    • Two chimaeric transcription units result from an inversion breaking intron 1 of the factor VIII gene and a region reportedly affected by reciprocal translocations in T-cell leukaemia
    • Brinke A, Tagliavacca L, Naylor J, Green P, Giangrande P, Giannelli F. Two chimaeric transcription units result from an inversion breaking intron 1 of the factor VIII gene and a region reportedly affected by reciprocal translocations in T-cell leukaemia. Hum Mol Genet. 1996;5:1945-1951.
    • (1996) Hum Mol Genet , vol.5 , pp. 1945-1951
    • Brinke, A.1    Tagliavacca, L.2    Naylor, J.3    Green, P.4    Giangrande, P.5    Giannelli, F.6
  • 4
    • 0036331974 scopus 로고    scopus 로고
    • 11 Haemophilia A patients without mutations in the factor VIII encoding gene
    • Klopp N, Oldenburg J, Uen C, Schneppenheim R, Graw J. 11 haemophilia A patients without mutations in the factor VIII encoding gene. Thromb Haemost. 2002;88:357-360.
    • (2002) Thromb Haemost , vol.88 , pp. 357-360
    • Klopp, N.1    Oldenburg, J.2    Uen, C.3    Schneppenheim, R.4    Graw, J.5
  • 5
    • 19544372311 scopus 로고    scopus 로고
    • Detailed RNA analysis in haemophilia A patients with previously undetectable mutations
    • El-Maarri O, Herbiniaux U, Graw J, et al. Detailed RNA analysis in haemophilia A patients with previously undetectable mutations. J Thromb Haemost. 2005;3:332-339.
    • (2005) J Thromb Haemost , vol.3 , pp. 332-339
    • El-Maarri, O.1    Herbiniaux, U.2    Graw, J.3
  • 6
    • 0031977990 scopus 로고    scopus 로고
    • Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene
    • Freson K, Peerlinck K, Aguirre T, et al. Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene. Hum Mutat. 1998;11:470-479.
    • (1998) Hum Mutat , vol.11 , pp. 470-479
    • Freson, K.1    Peerlinck, K.2    Aguirre, T.3
  • 7
    • 0041719983 scopus 로고    scopus 로고
    • A rapid, quantitative, non-radioactive bisulfite-SNuPE-IP RP HPLC assay for methylation analysis at specific CpG sites
    • El-Maarri O, Herbiniaux U, Walter J, Oldenburg J. A rapid, quantitative, non-radioactive bisulfite-SNuPE-IP RP HPLC assay for methylation analysis at specific CpG sites. Nucleic Acids Res. 2002;30:e25.
    • (2002) Nucleic Acids Res , vol.30
    • El-Maarri, O.1    Herbiniaux, U.2    Walter, J.3    Oldenburg, J.4
  • 8
    • 0026678490 scopus 로고
    • Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
    • Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet. 1992;51:1229-1239.
    • (1992) Am J Hum Genet , vol.51 , pp. 1229-1239
    • Allen, R.C.1    Zoghbi, H.Y.2    Moseley, A.B.3    Rosenblatt, H.M.4    Belmont, J.W.5
  • 9
    • 33645524085 scopus 로고    scopus 로고
    • Quantitative DNA-methylation analysis by the bisulfite conversion method
    • Weissensteiner T, Griffin HG, Griffin A, eds. London, United Kingdom: CRC Press
    • El-Maarri O, Kuepper M, Oldenburg J, Walter J. Quantitative DNA-methylation analysis by the bisulfite conversion method. In: Weissensteiner T, Griffin HG, Griffin A, eds. PCR Technology: Current Innovations. 2nd ed. Vol 2. London, United Kingdom: CRC Press; 2004:175-185.
    • (2004) PCR Technology: Current Innovations. 2nd Ed. , vol.2 , pp. 175-185
    • El-Maarri, O.1    Kuepper, M.2    Oldenburg, J.3    Walter, J.4
  • 11
  • 12
    • 0034839787 scopus 로고    scopus 로고
    • Tissue distribution of factor VIII gene expression in vivo: A closer look
    • Hollestelle MJ, Thinnes T, Crain K, et al. Tissue distribution of factor VIII gene expression in vivo: a closer look. Thromb Haemost. 2001;86:855-861.
    • (2001) Thromb Haemost , vol.86 , pp. 855-861
    • Hollestelle, M.J.1    Thinnes, T.2    Crain, K.3
  • 13
    • 0026730499 scopus 로고
    • Factor VIII gene explains all cases of haemophilia A
    • Naylor JA, Green PM, Rizza CR, Giannelli F. Factor VIII gene explains all cases of haemophilia A. Lancet. 1992;340:1066-1067.
    • (1992) Lancet , vol.340 , pp. 1066-1067
    • Naylor, J.A.1    Green, P.M.2    Rizza, C.R.3    Giannelli, F.4
  • 14
    • 0027376685 scopus 로고
    • Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions
    • Naylor J, Brinke A, Hassock S, Green PM, Giannelli F. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum Mol Genet. 1993;2:1773-1778.
    • (1993) Hum Mol Genet , vol.2 , pp. 1773-1778
    • Naylor, J.1    Brinke, A.2    Hassock, S.3    Green, P.M.4    Giannelli, F.5
  • 15
    • 0036361021 scopus 로고    scopus 로고
    • Mutation detection in factor VIII cDNA from lymphocytes of hemophilia A patients by solid phase fluorescent chemical cleavage of mismatch
    • Waseem NH, Bagnall R, Green PM, Giannelli F. Mutation detection in factor VIII cDNA from lymphocytes of hemophilia A patients by solid phase fluorescent chemical cleavage of mismatch. Methods Mol Biol. 2002;187:109-123.
    • (2002) Methods Mol Biol , vol.187 , pp. 109-123
    • Waseem, N.H.1    Bagnall, R.2    Green, P.M.3    Giannelli, F.4
  • 16
    • 24644472515 scopus 로고    scopus 로고
    • Antisense transcription in the mammalian transcriptome
    • Katayama S, Tomaru Y, Kasukawa T, et al. Antisense transcription in the mammalian transcriptome. Science. 2005;309:1564-1566.
    • (2005) Science , vol.309 , pp. 1564-1566
    • Katayama, S.1    Tomaru, Y.2    Kasukawa, T.3
  • 17
    • 13944284206 scopus 로고    scopus 로고
    • Monoallic expression of protocadherin genes
    • Chess A. Monoallic expression of protocadherin genes. Nat Genet. 2005;37:120-121.
    • (2005) Nat Genet , vol.37 , pp. 120-121
    • Chess, A.1
  • 18
    • 0037961011 scopus 로고    scopus 로고
    • Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect
    • Fugazzola L, Cerutti N, Mannavola D, et al. Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect. J Clin Endocrinol Metab. 2003;88:3264-3271.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 3264-3271
    • Fugazzola, L.1    Cerutti, N.2    Mannavola, D.3
  • 19
    • 0026557952 scopus 로고
    • A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele
    • Peerlinck K, Eikenboom JC, Ploos Van Amstel HK, et al. A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele. Br J Haematol. 1992; 80:358-363.
    • (1992) Br J Haematol , vol.80 , pp. 358-363
    • Peerlinck, K.1    Eikenboom, J.C.2    Ploos Van Amstel, H.K.3
  • 20
    • 7144256234 scopus 로고    scopus 로고
    • Frequent de novo monoallelic expression of beta-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency
    • Miraglia del Giudice E, Lombardi C, Francese M, et al. Frequent de novo monoallelic expression of beta-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency. Br J Haematol. 1998;101:251-254.
    • (1998) Br J Haematol , vol.101 , pp. 251-254
    • Miraglia Del Giudice, E.1    Lombardi, C.2    Francese, M.3
  • 21
    • 4043128071 scopus 로고    scopus 로고
    • Genetic analysis of genome-wide variation in human gene expression
    • Morley M, Molony CM, Weber TM, et al. Genetic analysis of genome-wide variation in human gene expression. Nature. 2004;430:743-747.
    • (2004) Nature , vol.430 , pp. 743-747
    • Morley, M.1    Molony, C.M.2    Weber, T.M.3
  • 22
  • 23
    • 0037188510 scopus 로고    scopus 로고
    • Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly
    • U S A
    • Lettice LA, Horikoshi T, Heaney SJ, et al. Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Proc Natl Acad Sci U S A. 2002;99:7548-7553.
    • (2002) Proc Natl Acad Sci , vol.99 , pp. 7548-7553
    • Lettice, L.A.1    Horikoshi, T.2    Heaney, S.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.