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Journal Abstract Search

353 related items for PubMed ID: 16765626

  • 1. A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency.
    Fukao T, Sakurai S, Rolland MO, Zabot MT, Schulze A, Yamada K, Kondo N.
    Mol Genet Metab; 2006 Nov; 89(3):280-2. PubMed ID: 16765626
    [Abstract] [Full Text] [Related]

  • 2. Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene.
    Yamada K, Fukao T, Zhang G, Sakurai S, Ruiter JP, Wanders RJ, Kondo N.
    Mol Genet Metab; 2007 Mar; 90(3):291-7. PubMed ID: 17169596
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  • 3. Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations.
    Fukao T, Mitchell GA, Song XQ, Nakamura H, Kassovska-Bratinova S, Orii KE, Wraith JE, Besley G, Wanders RJ, Niezen-Koning KE, Berry GT, Palmieri M, Kondo N.
    Genomics; 2000 Sep 01; 68(2):144-51. PubMed ID: 10964512
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  • 4. A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene.
    Nakamura K, Fukao T, Perez-Cerda C, Luque C, Song XQ, Naiki Y, Kohno Y, Ugarte M, Kondo N.
    Mol Genet Metab; 2001 Feb 01; 72(2):115-21. PubMed ID: 11161837
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  • 5. Molecular basis of two-exon skipping (exons 12 and 13) by c.1248+5g>a in OXCT1 gene: study on intermediates of OXCT1 transcripts in fibroblasts.
    Hori T, Fukao T, Murase K, Sakaguchi N, Harding CO, Kondo N.
    Hum Mutat; 2013 Mar 01; 34(3):473-80. PubMed ID: 23281106
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  • 6. Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings.
    Song XQ, Fukao T, Watanabe H, Shintaku H, Hirayama K, Kassovska-Bratinova S, Kondo N, Mitchell GA.
    Hum Mutat; 1998 Mar 01; 12(2):83-8. PubMed ID: 9671268
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  • 9. In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.
    Habara Y, Takeshima Y, Awano H, Okizuka Y, Zhang Z, Saiki K, Yagi M, Matsuo M.
    J Med Genet; 2009 Aug 01; 46(8):542-7. PubMed ID: 19001018
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  • 10. A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro.
    Thi Tran HT, Takeshima Y, Surono A, Yagi M, Wada H, Matsuo M.
    Mol Genet Metab; 2005 Jul 01; 85(3):213-9. PubMed ID: 15979033
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  • 11. Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy.
    Yagi M, Takeshima Y, Wada H, Nakamura H, Matsuo M.
    Hum Genet; 2003 Feb 01; 112(2):164-70. PubMed ID: 12522557
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  • 14. BRCA1 IVS16+6T-->C is a deleterious mutation that creates an aberrant transcript by activating a cryptic splice donor site.
    Scholl T, Pyne MT, Russo D, Ward BE.
    Am J Med Genet; 1999 Jul 16; 85(2):113-6. PubMed ID: 10406662
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  • 16. An aberrant splicing using a 3' cryptic splice site within the CH1 exon induces truncated mu-chain production.
    Komori T, Sugiyama H.
    Immunology; 1995 May 16; 85(1):166-70. PubMed ID: 7635518
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