BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

173 related articles for article (PubMed ID: 28812460)

  • 1. Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.
    Martín-Hernández E; García-Silva MT; Quijada-Fraile P; Rodríguez-García ME; Rivera H; Hernández-Laín A; Coca-Robinot D; Fernández-Toral J; Arenas J; Martín MA; Martínez-Azorín F
    Pediatr Dev Pathol; 2017; 20(5):416-420. PubMed ID: 28812460
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in
    Papadimas GK; Vargiami E; Dragoumi P; Van Coster R; Smet J; Seneca S; Papadopoulos C; Kararizou E; Zafeiriou D
    Acta Myol; 2020 Jun; 39(2):94-97. PubMed ID: 32904881
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. TK2 mutation presenting as indolent myopathy.
    Paradas C; Gutiérrez Ríos P; Rivas E; Carbonell P; Hirano M; DiMauro S
    Neurology; 2013 Jan; 80(5):504-6. PubMed ID: 23303857
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion.
    Castro-Gago M; Dacruz-Alvarez D; Pintos-Martínez E; Beiras-Iglesias A; Delmiro A; Arenas J; Martín MÁ; Martínez-Azorín F
    Eur J Paediatr Neurol; 2014 Nov; 18(6):796-800. PubMed ID: 24997086
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.
    Wang J; Kim E; Dai H; Stefans V; Vogel H; Al Jasmi F; Schrier Vergano SA; Castro D; Bernes S; Bhambhani V; Long C; El-Hattab AW; Wong LJ
    Mol Genet Metab; 2018 Jun; 124(2):124-130. PubMed ID: 29735374
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Targeted impairment of thymidine kinase 2 expression in cells induces mitochondrial DNA depletion and reveals molecular mechanisms of compensation of mitochondrial respiratory activity.
    Villarroya J; Lara MC; Dorado B; Garrido M; García-Arumí E; Meseguer A; Hirano M; Vilà MR
    Biochem Biophys Res Commun; 2011 Apr; 407(2):333-8. PubMed ID: 21382338
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Retrospective natural history of thymidine kinase 2 deficiency.
    Garone C; Taylor RW; Nascimento A; Poulton J; Fratter C; Domínguez-González C; Evans JC; Loos M; Isohanni P; Suomalainen A; Ram D; Hughes MI; McFarland R; Barca E; Lopez Gomez C; Jayawant S; Thomas ND; Manzur AY; Kleinsteuber K; Martin MA; Kerr T; Gorman GS; Sommerville EW; Chinnery PF; Hofer M; Karch C; Ralph J; Cámara Y; Madruga-Garrido M; Domínguez-Carral J; Ortez C; Emperador S; Montoya J; Chakrapani A; Kriger JF; Schoenaker R; Levin B; Thompson JLP; Long Y; Rahman S; Donati MA; DiMauro S; Hirano M
    J Med Genet; 2018 Aug; 55(8):515-521. PubMed ID: 29602790
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Clinical and genetic spectrum of mitochondrial DNA depletion syndromes: A report of 6 cases with 4 novel variants.
    AlMenabawy N; Hassaan HM; Ramadan M; Ehsan Abdel Meguid I; Ahmed El Gindy H; Beetz C; Selim L
    Mitochondrion; 2022 Jul; 65():139-144. PubMed ID: 35750291
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.
    Akman HO; Dorado B; López LC; García-Cazorla A; Vilà MR; Tanabe LM; Dauer WT; Bonilla E; Tanji K; Hirano M
    Hum Mol Genet; 2008 Aug; 17(16):2433-40. PubMed ID: 18467430
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Loss of thymidine kinase 2 alters neuronal bioenergetics and leads to neurodegeneration.
    Bartesaghi S; Betts-Henderson J; Cain K; Dinsdale D; Zhou X; Karlsson A; Salomoni P; Nicotera P
    Hum Mol Genet; 2010 May; 19(9):1669-77. PubMed ID: 20123860
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.