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Journal Abstract Search

112 related items for PubMed ID: 12373633

  • 1. Insulin resistance in patients with the mitochondrial tRNA(Leu(UUR)) gene mutation at position 3243.
    Becker R, Laube H, Linn T, Damian MS.
    Exp Clin Endocrinol Diabetes; 2002 Sep; 110(6):291-7. PubMed ID: 12373633
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  • 2. A mitochondrial tRNA(Leu)(UUR) mutation at 3,256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
    Sato W, Hayasaka K, Shoji Y, Takahashi T, Takada G, Saito M, Fukawa O, Wachi E.
    Biochem Mol Biol Int; 1994 Aug; 33(6):1055-61. PubMed ID: 7804130
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  • 3. Pancreatic beta-cell secretory defect associated with mitochondrial point mutation of the tRNA(LEU(UUR)) gene: a study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS).
    Suzuki S, Hinokio Y, Hirai S, Onoda M, Matsumoto M, Ohtomo M, Kawasaki H, Satoh Y, Akai H, Abe K.
    Diabetologia; 1994 Aug; 37(8):818-25. PubMed ID: 7988784
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  • 4. Prevalence of A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene in Japanese patients with diabetes mellitus and end stage renal disease.
    Iwasaki N, Babazono T, Tsuchiya K, Tomonaga O, Suzuki A, Togashi M, Ujihara N, Sakka Y, Yokokawa H, Ogata M, Nihei H, Iwamoto Y.
    J Hum Genet; 2001 Aug; 46(6):330-4. PubMed ID: 11393536
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  • 5. [Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with the A3243G mutation of the tRNALeu(UUR) gene of mtDNA in native American haplogroup B2].
    Delgado-Sánchez R, Zárate-Moysen A, Monsalvo-Reyes A, Herrero MD, Ruiz-Pesini E, López-Pérez M, Montoya J, Montiel-Sosa JF.
    Rev Neurol; 2001 Aug; 44(1):18-22. PubMed ID: 17199225
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  • 8. Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness.
    van den Ouweland JM, Lemkes HH, Ruitenbeek W, Sandkuijl LA, de Vijlder MF, Struyvenberg PA, van de Kamp JJ, Maassen JA.
    Nat Genet; 1992 Aug; 1(5):368-71. PubMed ID: 1284550
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  • 10. Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases.
    Mkaouar-Rebai E, Tlili A, Masmoudi S, Belguith N, Charfeddine I, Mnif M, Triki C, Fakhfakh F.
    Biochem Biophys Res Commun; 2007 Apr 20; 355(4):1031-7. PubMed ID: 17336924
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  • 11. The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy.
    Feigenbaum A, Chitayat D, Robinson B, MacGregor D, Myint T, Arbus G, Nowaczyk MJ.
    Am J Med Genet; 1996 Apr 24; 62(4):404-9. PubMed ID: 8723072
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  • 12. Phenotypic heterogeneity in a Chinese family with mitochondrial disease and A3243G mutation of mitochondrial DNA.
    Thajeb P, Lee HC, Pang CY, Jeng CM, Huang SF, Wei YH.
    Zhonghua Yi Xue Za Zhi (Taipei); 2000 Jan 24; 63(1):71-6. PubMed ID: 10645055
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  • 13. Mitochondrial 3243 BP mutation: a case report.
    Rigoli L, Caruso RA, Zuccarello D, Rigoli M, Barberi I.
    Diabetes Nutr Metab; 2001 Dec 24; 14(6):343-8. PubMed ID: 11853367
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  • 15. The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2.
    Sasarman F, Antonicka H, Shoubridge EA.
    Hum Mol Genet; 2008 Dec 01; 17(23):3697-707. PubMed ID: 18753147
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  • 17. Mitochondrial encephalomyopathy associated with a novel mutation in the mitochondrial tRNA(leu)(UUR) gene (A3243T).
    Shaag A, Saada A, Steinberg A, Navon P, Elpeleg ON.
    Biochem Biophys Res Commun; 1997 Apr 28; 233(3):637-9. PubMed ID: 9168904
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  • 18. A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy.
    Goto Y, Tojo M, Tohyama J, Horai S, Nonaka I.
    Ann Neurol; 1992 Jun 28; 31(6):672-5. PubMed ID: 1514779
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  • 19. [Evolution until death of two members of a family with A3243G mutation and MELAS phenotype versus diabetes mellitus].
    Pérez López-Fraile MI, Barrena R, Montoya J, Marta E.
    Neurologia; 2006 Jun 28; 21(6):327-32. PubMed ID: 16799910
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