BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

179 related articles for article (PubMed ID: 30428046)

  • 21. Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts.
    Taanman JW; Muddle JR; Muntau AC
    Hum Mol Genet; 2003 Aug; 12(15):1839-45. PubMed ID: 12874104
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.
    Navarro-Sastre A; Tort F; Garcia-Villoria J; Pons MR; Nascimento A; Colomer J; Campistol J; Yoldi ME; López-Gallardo E; Montoya J; Unceta M; Martinez MJ; Briones P; Ribes A
    Mol Genet Metab; 2012 Nov; 107(3):409-15. PubMed ID: 22980518
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Depletion of mitochondrial DNA by down-regulation of deoxyguanosine kinase expression in non-proliferating HeLa cells.
    Franco M; Johansson M; Karlsson A
    Exp Cell Res; 2007 Jul; 313(12):2687-94. PubMed ID: 17490647
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.
    Slama A; Giurgea I; Debrey D; Bridoux D; de Lonlay P; Levy P; Chretien D; Brivet M; Legrand A; Rustin P; Munnich A; Rötig A
    Mol Genet Metab; 2005 Dec; 86(4):462-5. PubMed ID: 16263314
    [TBL] [Abstract][Full Text] [Related]  

  • 25. The zebrafish orthologue of the human hepatocerebral disease gene
    Martorano L; Peron M; Laquatra C; Lidron E; Facchinello N; Meneghetti G; Tiso N; Rasola A; Ghezzi D; Argenton F
    Dis Model Mech; 2019 Mar; 12(3):. PubMed ID: 30833296
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency.
    Dimmock DP; Dunn JK; Feigenbaum A; Rupar A; Horvath R; Freisinger P; Mousson de Camaret B; Wong LJ; Scaglia F
    Liver Transpl; 2008 Oct; 14(10):1480-5. PubMed ID: 18825706
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.
    Al-Hussaini A; Faqeih E; El-Hattab AW; Alfadhel M; Asery A; Alsaleem B; Bakhsh E; Ali A; Alasmari A; Lone K; Nahari A; Eyaid W; Al Balwi M; Craig K; Butterworth A; He L; Taylor RW
    J Pediatr; 2014 Mar; 164(3):553-9.e1-2. PubMed ID: 24321534
    [TBL] [Abstract][Full Text] [Related]  

  • 28. The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series.
    Doğulu N; Tuna Kırsaçlıoğlu C; Köse E; Ünlüsoy Aksu A; Kuloğlu Z; Kansu A; Eminoğlu FT
    J Pediatr Endocrinol Metab; 2021 Oct; 34(10):1341-1347. PubMed ID: 34167177
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
    Uusimaa J; Evans J; Smith C; Butterworth A; Craig K; Ashley N; Liao C; Carver J; Diot A; Macleod L; Hargreaves I; Al-Hussaini A; Faqeih E; Asery A; Al Balwi M; Eyaid W; Al-Sunaid A; Kelly D; van Mourik I; Ball S; Jarvis J; Mulay A; Hadzic N; Samyn M; Baker A; Rahman S; Stewart H; Morris AA; Seller A; Fratter C; Taylor RW; Poulton J
    Eur J Hum Genet; 2014 Feb; 22(2):184-91. PubMed ID: 23714749
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Reference Intervals of Mitochondrial DNA Copy Number in Peripheral Blood for Chinese Minors and Adults.
    Xia CY; Liu Y; Yang HR; Yang HY; Liu JX; Ma YN; Qi Y
    Chin Med J (Engl); 2017 Oct; 130(20):2435-2440. PubMed ID: 29052564
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
    Ronchi D; Garone C; Bordoni A; Gutierrez Rios P; Calvo SE; Ripolone M; Ranieri M; Rizzuti M; Villa L; Magri F; Corti S; Bresolin N; Mootha VK; Moggio M; DiMauro S; Comi GP; Sciacco M
    Brain; 2012 Nov; 135(Pt 11):3404-15. PubMed ID: 23043144
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.
    Pronicka E; Węglewska-Jurkiewicz A; Taybert J; Pronicki M; Szymańska-Dębińska T; Karkucińska-Więckowska A; Jakóbkiewicz-Banecka J; Kowalski P; Piekutowska-Abramczuk D; Pajdowska M; Socha P; Sykut-Cegielska J; Węgrzyn G
    J Appl Genet; 2011 Feb; 52(1):61-6. PubMed ID: 21107780
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Defects in mitochondrial DNA replication and human disease.
    Copeland WC
    Crit Rev Biochem Mol Biol; 2012; 47(1):64-74. PubMed ID: 22176657
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Deoxyguanosine kinase deficiency: a report of four patients.
    Ünal Ö; Hişmi B; Kılıç M; Gülşen HH; Coşkun T; Sivri SH; Dursun A; Yüce A; Tokatlı A
    J Pediatr Endocrinol Metab; 2017 May; 30(6):697-702. PubMed ID: 28493820
    [TBL] [Abstract][Full Text] [Related]  

  • 37. The implications of mitochondrial DNA copy number regulation during embryogenesis.
    Carling PJ; Cree LM; Chinnery PF
    Mitochondrion; 2011 Sep; 11(5):686-92. PubMed ID: 21635974
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.
    Kiliç M; Sivri HS; Dursun A; Tokatli A; De Meirleir L; Seneca S; Akçören Z; Yiğit S; Topaloğlu H; Coşkun T
    Turk J Pediatr; 2011; 53(1):79-82. PubMed ID: 21534344
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Neonatal liver failure due to deoxyguanosine kinase deficiency.
    Nobre S; Grazina M; Silva F; Pinto C; Gonçalves I; Diogo L
    BMJ Case Rep; 2012 Apr; 2012():. PubMed ID: 22602837
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Zidovudine induces downregulation of mitochondrial deoxynucleoside kinases: implications for mitochondrial toxicity of antiviral nucleoside analogs.
    Sun R; Eriksson S; Wang L
    Antimicrob Agents Chemother; 2014 Nov; 58(11):6758-66. PubMed ID: 25182642
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.