BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

154 related articles for article (PubMed ID: 1684568)

  • 1. A specific point mutation in the mitochondrial genome of Caucasians with MELAS.
    Enter C; Müller-Höcker J; Zierz S; Kurlemann G; Pongratz D; Förster C; Obermaier-Kusser B; Gerbitz KD
    Hum Genet; 1991 Dec; 88(2):233-6. PubMed ID: 1684568
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.
    Moraes CT; Ricci E; Bonilla E; DiMauro S; Schon EA
    Am J Hum Genet; 1992 May; 50(5):934-49. PubMed ID: 1315123
    [TBL] [Abstract][Full Text] [Related]  

  • 3. MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts.
    Chomyn A; Martinuzzi A; Yoneda M; Daga A; Hurko O; Johns D; Lai ST; Nonaka I; Angelini C; Attardi G
    Proc Natl Acad Sci U S A; 1992 May; 89(10):4221-5. PubMed ID: 1584755
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).
    Goto Y; Nonaka I; Horai S
    Biochim Biophys Acta; 1991 Oct; 1097(3):238-40. PubMed ID: 1932147
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.
    King MP; Koga Y; Davidson M; Schon EA
    Mol Cell Biol; 1992 Feb; 12(2):480-90. PubMed ID: 1732728
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).
    Kobayashi Y; Momoi MY; Tominaga K; Shimoizumi H; Nihei K; Yanagisawa M; Kagawa Y; Ohta S
    Am J Hum Genet; 1991 Sep; 49(3):590-9. PubMed ID: 1715668
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNA(Leu(UUR))].
    Obermaier-Kusser B; Paetzke-Brunner I; Enter C; Müller-Höcker J; Zierz S; Ruitenbeek W; Gerbitz KD
    FEBS Lett; 1991 Jul; 286(1-2):67-70. PubMed ID: 1713858
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mitochondrial encephalomyopathies with the mutation of the mitochondrial tRNA(Leu(UUR)) gene.
    Inui K; Fukushima H; Tsukamoto H; Taniike M; Midorikawa M; Tanaka J; Nishigaki T; Okada S
    J Pediatr; 1992 Jan; 120(1):62-6. PubMed ID: 1370535
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).
    Kobayashi Y; Momoi MY; Tominaga K; Momoi T; Nihei K; Yanagisawa M; Kagawa Y; Ohta S
    Biochem Biophys Res Commun; 1990 Dec; 173(3):816-22. PubMed ID: 2268345
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development.
    Bouchet C; Steffann J; Corcos J; Monnot S; Paquis V; Rötig A; Lebon S; Levy P; Royer G; Giurgea I; Gigarel N; Benachi A; Dumez Y; Munnich A; Bonnefont JP
    J Med Genet; 2006 Oct; 43(10):788-92. PubMed ID: 16690729
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I.
    Lertrit P; Noer AS; Jean-Francois MJ; Kapsa R; Dennett X; Thyagarajan D; Lethlean K; Byrne E; Marzuki S
    Am J Hum Genet; 1992 Sep; 51(3):457-68. PubMed ID: 1323207
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes.
    Zupanc ML; Moraes CT; Shanske S; Langman CB; Ciafaloni E; DiMauro S
    Ann Neurol; 1991 Jun; 29(6):680-3. PubMed ID: 1892371
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 63(1):71-6. PubMed ID: 10645055
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNA(Leu) (UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies.
    Jean-Francois MJ; Lertrit P; Berkovic SF; Crimmins D; Morris J; Marzuki S; Byrne E
    Aust N Z J Med; 1994 Apr; 24(2):188-93. PubMed ID: 8042948
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function.
    Hayashi J; Ohta S; Takai D; Miyabayashi S; Sakuta R; Goto Y; Nonaka I
    Biochem Biophys Res Commun; 1993 Dec; 197(3):1049-55. PubMed ID: 8280119
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 202(3):1624-30. PubMed ID: 7520241
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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
    [TBL] [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; 57(5):586-9. PubMed ID: 8201329
    [TBL] [Abstract][Full Text] [Related]  

  • 20. High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families.
    Cevoli S; Pallotti F; La Morgia C; Valentino ML; Pierangeli G; Cortelli P; Baruzzi A; Montagna P; Carelli V
    Cephalalgia; 2010 Aug; 30(8):919-27. PubMed ID: 20656703
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.