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248 related items for PubMed ID: 7713314

  • 1. Diabetes mellitus carrying a mutation in the mitochondrial tRNA(Leu(UUR)) gene.
    Kishimoto M, Hashiramoto M, Araki S, Ishida Y, Kazumi T, Kanda E, Kasuga M.
    Diabetologia; 1995 Feb; 38(2):193-200. PubMed ID: 7713314
    [Abstract] [Full Text] [Related]

  • 2. Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.
    van den Ouweland JM, Lemkes HH, Trembath RC, Ross R, Velho G, Cohen D, Froguel P, Maassen JA.
    Diabetes; 1994 Jun; 43(6):746-51. PubMed ID: 7910800
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Adult-onset diabetes mellitus and neurosensory hearing loss in maternal relatives of MELAS patients in a family with the tRNA(Leu(UUR)) mutation.
    Remes AM, Majamaa K, Herva R, Hassinen IE.
    Neurology; 1993 May; 43(5):1015-20. PubMed ID: 8492919
    [Abstract] [Full Text] [Related]

  • 7. Organ distribution of mutant mitochondrial tRNA(leu(UUR)) gene in a MELAS patient.
    Hamazaki S, Koshiba M, Sugiyama T.
    Acta Pathol Jpn; 1993 Apr; 43(4):187-91. PubMed ID: 8493868
    [Abstract] [Full Text] [Related]

  • 8. Screening of patients with maternally transmitted diabetes for mitochondrial gene mutations in the tRNA[Leu(UUR)] region.
    Tsukuda K, Suzuki Y, Kameoka K, Osawa N, Goto Y, Katagiri H, Asano T, Yazaki Y, Oka Y.
    Diabet Med; 1997 Dec; 14(12):1032-7. PubMed ID: 9455930
    [Abstract] [Full Text] [Related]

  • 9. Muscle histopathology in diabetes mellitus associated with mitochondrial tRNA(Leu(UUR)) mutation at position 3243.
    Suzuki Y, Goto Y, Taniyama M, Nonaka I, Murakami N, Hosokawa K, Asahina T, Atsumi Y, Matsuoka K.
    J Neurol Sci; 1997 Jan; 145(1):49-53. PubMed ID: 9073028
    [Abstract] [Full Text] [Related]

  • 10. A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
    Goto Y, Tsugane K, Tanabe Y, Nonaka I, Horai S.
    Biochem Biophys Res Commun; 1994 Aug 15; 202(3):1624-30. PubMed ID: 7520241
    [Abstract] [Full Text] [Related]

  • 11. The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes.
    Chomyn A, Enriquez JA, Micol V, Fernandez-Silva P, Attardi G.
    J Biol Chem; 2000 Jun 23; 275(25):19198-209. PubMed ID: 10858457
    [Abstract] [Full Text] [Related]

  • 12. Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
    Yasukawa T, Suzuki T, Ueda T, Ohta S, Watanabe K.
    J Biol Chem; 2000 Feb 11; 275(6):4251-7. PubMed ID: 10660592
    [Abstract] [Full Text] [Related]

  • 13. Mitochondrial diabetes mellitus: prevalence and clinical characterization of diabetes due to mitochondrial tRNA(Leu(UUR)) gene mutation in Japanese patients.
    Katagiri H, Asano T, Ishihara H, Inukai K, Anai M, Yamanouchi T, Tsukuda K, Kikuchi M, Kitaoka H, Ohsawa N.
    Diabetologia; 1994 May 11; 37(5):504-10. PubMed ID: 8056189
    [Abstract] [Full Text] [Related]

  • 14. Mitochondrial gene variation in type 2 diabetes mellitus: detection of a novel mutation associated with maternally inherited diabetes in a Chinese family.
    Ma L, Wang H, Chen J, Jin W, Liu L, Ban B, Shen J, Hua Z, Chai J.
    Chin Med J (Engl); 2000 Feb 11; 113(2):111-6. PubMed ID: 11775531
    [Abstract] [Full Text] [Related]

  • 15. 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 11; 1(5):368-71. PubMed ID: 1284550
    [Abstract] [Full Text] [Related]

  • 16. MELAS phenotype associated with m.3302A>G mutation in mitochondrial tRNA(Leu(UUR)) gene.
    Goto M, Komaki H, Saito T, Saito Y, Nakagawa E, Sugai K, Sasaki M, Nishino I, Goto Y.
    Brain Dev; 2014 Feb 11; 36(2):180-2. PubMed ID: 23582502
    [Abstract] [Full Text] [Related]

  • 17. Diminished insulin secretory response to glucose but normal insulin and glucagon secretory responses to arginine in a family with maternally inherited diabetes and deafness caused by mitochondrial tRNA(LEU(UUR)) gene mutation.
    Brändle M, Lehmann R, Maly FE, Schmid C, Spinas GA.
    Diabetes Care; 2001 Jul 11; 24(7):1253-8. PubMed ID: 11423511
    [Abstract] [Full Text] [Related]

  • 18. Evaluation of the importance of maternal history of diabetes and of mitochondrial variation in the development of NIDDM.
    McCarthy M, Cassell P, Tran T, Mathias L, 't Hart LM, Maassen JA, Snehalatha C, Ramachandran A, Viswanathan M, Hitman GA.
    Diabet Med; 1996 May 11; 13(5):420-8. PubMed ID: 8737023
    [Abstract] [Full Text] [Related]

  • 19. MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family.
    Huang CC, Chen RS, Chen CM, Wang HS, Lee CC, Pang CY, Hsu HS, Lee HC, Wei YH.
    J Neurol Neurosurg Psychiatry; 1994 May 11; 57(5):586-9. PubMed ID: 8201329
    [Abstract] [Full Text] [Related]

  • 20. Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes.
    Li R, Guan MX.
    Mol Cell Biol; 2010 May 11; 30(9):2147-54. PubMed ID: 20194621
    [Abstract] [Full Text] [Related]

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