BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

181 related articles for article (PubMed ID: 17073823)

  • 21. 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]  

  • 22. The Deoxynucleoside Triphosphate Triphosphohydrolase Activity of SAMHD1 Protein Contributes to the Mitochondrial DNA Depletion Associated with Genetic Deficiency of Deoxyguanosine Kinase.
    Franzolin E; Salata C; Bianchi V; Rampazzo C
    J Biol Chem; 2015 Oct; 290(43):25986-96. PubMed ID: 26342080
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy.
    Buchaklian AH; Helbling D; Ware SM; Dimmock DP
    Mol Genet Metab; 2012 Sep; 107(1-2):92-4. PubMed ID: 22622127
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria.
    Tadiboyina VT; Rupar A; Atkison P; Feigenbaum A; Kronick J; Wang J; Hegele RA
    Am J Med Genet A; 2005 Jun; 135(3):289-91. PubMed ID: 15887277
    [TBL] [Abstract][Full Text] [Related]  

  • 25. The mitochondrial deoxyguanosine kinase is required for cancer cell stemness in lung adenocarcinoma.
    Lin S; Huang C; Sun J; Bollt O; Wang X; Martine E; Kang J; Taylor MD; Fang B; Singh PK; Koomen J; Hao J; Yang S
    EMBO Mol Med; 2019 Dec; 11(12):e10849. PubMed ID: 31633874
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency.
    Labarthe F; Dobbelaere D; Devisme L; De Muret A; Jardel C; Taanman JW; Gottrand F; Lombès A
    J Hepatol; 2005 Aug; 43(2):333-41. PubMed ID: 15964659
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Mitochondrial deoxyguanosine kinase is required for female fertility in mice.
    Gao Y; Dong R; Yan J; Chen H; Sang L; Yao X; Fan D; Wang X; Zuo X; Zhang X; Yang S; Wu Z; Sun J
    Acta Biochim Biophys Sin (Shanghai); 2024 Mar; 56(3):427-439. PubMed ID: 38327186
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. 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]  

  • 31. 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]  

  • 32. Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency.
    Saada A
    Mol Genet Metab; 2008 Nov; 95(3):169-73. PubMed ID: 18723380
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
    Haudry C; de Lonlay P; Malan V; Bole-Feysot C; Assouline Z; Pruvost S; Brassier A; Bonnefont JP; Munnich A; Rötig A; Lebre AS
    Mol Genet Metab; 2012 Dec; 107(4):700-4. PubMed ID: 23141463
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. 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]  

  • 36. 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]  

  • 37. Severe mtDNA depletion and dependency on catabolic lipid metabolism in DGUOK knockout mice.
    Zhou X; Curbo S; Zhao Q; Krishnan S; Kuiper R; Karlsson A
    Hum Mol Genet; 2019 Sep; 28(17):2874-2884. PubMed ID: 31127938
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes.
    Mancuso M; Filosto M; Tsujino S; Lamperti C; Shanske S; Coquet M; Desnuelle C; DiMauro S
    Arch Neurol; 2003 Oct; 60(10):1445-7. PubMed ID: 14568816
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.
    Fang W; Song P; Xie X; Wang J; Lu Y; Li G; Abuduxikuer K
    Oncotarget; 2017 Oct; 8(48):84309-84319. PubMed ID: 29137425
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
    Tyynismaa H; Sun R; Ahola-Erkkilä S; Almusa H; Pöyhönen R; Korpela M; Honkaniemi J; Isohanni P; Paetau A; Wang L; Suomalainen A
    Hum Mol Genet; 2012 Jan; 21(1):66-75. PubMed ID: 21937588
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.