BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

194 related articles for article (PubMed ID: 15639197)

  • 1. Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes.
    Wang L; Limongelli A; Vila MR; Carrara F; Zeviani M; Eriksson S
    Mol Genet Metab; 2005 Jan; 84(1):75-82. PubMed ID: 15639197
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.
    Mancuso M; Filosto M; Bonilla E; Hirano M; Shanske S; Vu TH; DiMauro S
    Arch Neurol; 2003 Jul; 60(7):1007-9. PubMed ID: 12873860
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.
    Saada A; Shaag A; Mandel H; Nevo Y; Eriksson S; Elpeleg O
    Nat Genet; 2001 Nov; 29(3):342-4. PubMed ID: 11687801
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.
    Mancuso M; Salviati L; Sacconi S; Otaegui D; Camaño P; Marina A; Bacman S; Moraes CT; Carlo JR; Garcia M; Garcia-Alvarez M; Monzon L; Naini AB; Hirano M; Bonilla E; Taratuto AL; DiMauro S; Vu TH
    Neurology; 2002 Oct; 59(8):1197-202. PubMed ID: 12391347
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Deoxyribonucleoside kinases in mitochondrial DNA depletion.
    Saada-Reisch A
    Nucleosides Nucleotides Nucleic Acids; 2004 Oct; 23(8-9):1205-15. PubMed ID: 15571232
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
    Götz A; Isohanni P; Pihko H; Paetau A; Herva R; Saarenpää-Heikkilä O; Valanne L; Marjavaara S; Suomalainen A
    Brain; 2008 Nov; 131(Pt 11):2841-50. PubMed ID: 18819985
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutations.
    Roos S; Lindgren U; Ehrstedt C; Moslemi AR; Oldfors A
    Neuromuscul Disord; 2014 Aug; 24(8):713-20. PubMed ID: 24953930
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy.
    Wang L; Saada A; Eriksson S
    J Biol Chem; 2003 Feb; 278(9):6963-8. PubMed ID: 12493767
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Altered gene transcription profiles in fibroblasts harboring either TK2 or DGUOK mutations indicate compensatory mechanisms.
    Villarroya J; de Bolós C; Meseguer A; Hirano M; Vilà MR
    Exp Cell Res; 2009 May; 315(8):1429-38. PubMed ID: 19265691
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A defect in the thymidine kinase 2 gene causing isolated mitochondrial myopathy without mtDNA depletion.
    Leshinsky-Silver E; Michelson M; Cohen S; Ginsberg M; Sadeh M; Barash V; Lerman-Sagie T; Lev D
    Eur J Paediatr Neurol; 2008 Jul; 12(4):309-13. PubMed ID: 17951082
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum.
    Béhin A; Jardel C; Claeys KG; Fagart J; Louha M; Romero NB; Laforêt P; Eymard B; Lombès A
    Neurology; 2012 Feb; 78(9):644-8. PubMed ID: 22345218
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mitochondrial deoxyguanosine kinase mutations and mitochondrial DNA depletion syndrome.
    Wang L; Eriksson S
    FEBS Lett; 2003 Nov; 554(3):319-22. PubMed ID: 14623087
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion.
    Lesko N; Naess K; Wibom R; Solaroli N; Nennesmo I; von Döbeln U; Karlsson A; Larsson NG
    Neuromuscul Disord; 2010 Mar; 20(3):198-203. PubMed ID: 20083405
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Late-onset thymidine kinase 2 deficiency: a review of 18 cases.
    Domínguez-González C; Hernández-Laín A; Rivas E; Hernández-Voth A; Sayas Catalán J; Fernández-Torrón R; Fuiza-Luces C; García García J; Morís G; Olivé M; Miralles F; Díaz-Manera J; Caballero C; Méndez-Ferrer B; Martí R; García Arumi E; Badosa MC; Esteban J; Jimenez-Mallebrera C; Encinar AB; Arenas J; Hirano M; Martin MÁ; Paradas C
    Orphanet J Rare Dis; 2019 May; 14(1):100. PubMed ID: 31060578
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion.
    Zhang S; Li FY; Bass HN; Pursley A; Schmitt ES; Brown BL; Brundage EK; Mardach R; Wong LJ
    Mol Genet Metab; 2010 Jan; 99(1):53-7. PubMed ID: 19815440
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.
    Elpeleg O; Mandel H; Saada A
    J Mol Med (Berl); 2002 Jul; 80(7):389-96. PubMed ID: 12110944
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene.
    Martí R; Nascimento A; Colomer J; Lara MC; López-Gallardo E; Ruiz-Pesini E; Montoya J; Andreu AL; Briones P; Pineda M
    Pediatr Res; 2010 Aug; 68(2):151-4. PubMed ID: 20421844
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.
    Chanprasert S; Wang J; Weng SW; Enns GM; Boué DR; Wong BL; Mendell JR; Perry DA; Sahenk Z; Craigen WJ; Alcala FJ; Pascual JM; Melancon S; Zhang VW; Scaglia F; Wong LJ
    Mol Genet Metab; 2013; 110(1-2):153-61. PubMed ID: 23932787
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Selective muscle fiber loss and molecular compensation in mitochondrial myopathy due to TK2 deficiency.
    Vilà MR; Villarroya J; García-Arumí E; Castellote A; Meseguer A; Hirano M; Roig M
    J Neurol Sci; 2008 Apr; 267(1-2):137-41. PubMed ID: 18021809
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutations.
    Collins J; Bove KE; Dimmock D; Morehart P; Wong LJ; Wong B
    Neuromuscul Disord; 2009 Nov; 19(11):784-7. PubMed ID: 19736010
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.