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Journal Abstract Search

272 related items for PubMed ID: 20488739

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  • 2. Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site.
    Otsuka H, Sasai H, Nakama M, Aoyama Y, Abdelkreem E, Ohnishi H, Konstantopoulou V, Sass JO, Fukao T.
    Mol Med Rep; 2016 Nov; 14(5):4906-4910. PubMed ID: 27748876
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  • 6. A novel single-base substitution (c.1124A>G) that activates a 5-base upstream cryptic splice donor site within exon 11 in the human mitochondrial acetoacetyl-CoA thiolase gene.
    Fukao T, Boneh A, Aoki Y, Kondo N.
    Mol Genet Metab; 2008 Aug; 94(4):417-421. PubMed ID: 18511318
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  • 9. Different clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations.
    Thümmler S, Dupont D, Acquaviva C, Fukao T, de Ricaud D.
    Tohoku J Exp Med; 2010 Jan; 220(1):27-31. PubMed ID: 20046049
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  • 10. Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.
    Fukao T, Yamaguchi S, Orii T, Schutgens RB, Osumi T, Hashimoto T.
    J Clin Invest; 1992 Feb; 89(2):474-9. PubMed ID: 1346617
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  • 11. Intronic antisense Alu elements have a negative splicing effect on the inclusion of adjacent downstream exons.
    Nakama M, Otsuka H, Ago Y, Sasai H, Abdelkreem E, Aoyama Y, Fukao T.
    Gene; 2018 Jul 20; 664():84-89. PubMed ID: 29698748
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  • 12. Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.
    Gaildrat P, Krieger S, Di Giacomo D, Abdat J, Révillion F, Caputo S, Vaur D, Jamard E, Bohers E, Ledemeney D, Peyrat JP, Houdayer C, Rouleau E, Lidereau R, Frébourg T, Hardouin A, Tosi M, Martins A.
    J Med Genet; 2012 Oct 20; 49(10):609-17. PubMed ID: 22962691
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  • 13. Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene.
    Sasai H, Aoyama Y, Otsuka H, Abdelkreem E, Nakama M, Hori T, Ohnishi H, Turner L, Fukao T.
    Mol Genet Genomic Med; 2017 Mar 20; 5(2):177-184. PubMed ID: 28361105
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  • 14. Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.
    Heintz C, Dobrowolski SF, Andersen HS, Demirkol M, Blau N, Andresen BS.
    Mol Genet Metab; 2012 Aug 20; 106(4):403-11. PubMed ID: 22698810
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  • 15. Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.
    Zatkova A, Messiaen L, Vandenbroucke I, Wieser R, Fonatsch C, Krainer AR, Wimmer K.
    Hum Mutat; 2004 Dec 20; 24(6):491-501. PubMed ID: 15523642
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  • 17. Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene.
    Tran VK, Takeshima Y, Zhang Z, Yagi M, Nishiyama A, Habara Y, Matsuo M.
    J Med Genet; 2006 Dec 20; 43(12):924-30. PubMed ID: 16738009
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  • 18. A strong exonic splicing enhancer in dystrophin exon 19 achieve proper splicing without an upstream polypyrimidine tract.
    Habara Y, Doshita M, Hirozawa S, Yokono Y, Yagi M, Takeshima Y, Matsuo M.
    J Biochem; 2008 Mar 20; 143(3):303-10. PubMed ID: 18039686
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  • 19. Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure.
    Fukao T, Nakamura H, Nakamura K, Perez-Cerda C, Baldellou A, Barrionuevo CR, Castello FG, Kohno Y, Ugarte M, Kondo N.
    Mol Genet Metab; 2002 Mar 20; 75(3):235-43. PubMed ID: 11914035
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  • 20. Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency.
    Fukao T, Song XQ, Yamaguchi S, Orii T, Wanders RJ, Poll-The BT, Hashimoto T.
    Hum Mutat; 1995 Mar 20; 5(1):94-6. PubMed ID: 7728155
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