BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

179 related articles for article (PubMed ID: 21107780)

  • 21. 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]  

  • 22. 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]  

  • 23. A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping.
    Ji JQ; Dimmock D; Tang LY; Descartes M; Gomez R; Rutledge SL; Schmitt ES; Wong LJ
    Mitochondrion; 2010 Mar; 10(2):188-91. PubMed ID: 19900589
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA.
    Taanman JW; Kateeb I; Muntau AC; Jaksch M; Cohen N; Mandel H
    Ann Neurol; 2002 Aug; 52(2):237-9. PubMed ID: 12210798
    [TBL] [Abstract][Full Text] [Related]  

  • 25. The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes from DGUOK-deficient rats.
    Vanden Avond MA; Meng H; Beatka MJ; Helbling DC; Prom MJ; Sutton JL; Slick RA; Dimmock DP; Pertusati F; Serpi M; Pileggi E; Crutcher P; Thomas S; Lawlor MW
    J Inherit Metab Dis; 2021 Mar; 44(2):492-501. PubMed ID: 33368311
    [TBL] [Abstract][Full Text] [Related]  

  • 26. New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.
    Mancuso M; Ferraris S; Pancrudo J; Feigenbaum A; Raiman J; Christodoulou J; Thorburn DR; DiMauro S
    Arch Neurol; 2005 May; 62(5):745-7. PubMed ID: 15883261
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. 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]  

  • 29. A Combined Model of Human iPSC-Derived Liver Organoids and Hepatocytes Reveals Ferroptosis in DGUOK Mutant mtDNA Depletion Syndrome.
    Guo J; Duan L; He X; Li S; Wu Y; Xiang G; Bao F; Yang L; Shi H; Gao M; Zheng L; Hu H; Liu X
    Adv Sci (Weinh); 2021 May; 8(10):2004680. PubMed ID: 34026460
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome].
    Deng M; Lin WX; Guo L; Zhang ZH; Song YZ
    Zhongguo Dang Dai Er Ke Za Zhi; 2016 Jun; 18(6):545-50. PubMed ID: 27324545
    [TBL] [Abstract][Full Text] [Related]  

  • 31. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.
    El-Hattab AW; Li FY; Schmitt E; Zhang S; Craigen WJ; Wong LJ
    Mol Genet Metab; 2010 Mar; 99(3):300-8. PubMed ID: 20074988
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [DGUOK-related mitochondrial DNA depletion syndrome: a case report and literature review].
    Lin GZ; Qiu JW; Deng M; Lin WX; Guo L; Song YZ
    Zhongguo Dang Dai Er Ke Za Zhi; 2020 Mar; 22(3):274-279. PubMed ID: 32204766
    [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. Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria.
    Fellman V; Rapola J; Pihko H; Varilo T; Raivio KO
    Lancet; 1998 Feb; 351(9101):490-3. PubMed ID: 9482441
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension.
    Vilarinho S; Sari S; Yilmaz G; Stiegler AL; Boggon TJ; Jain D; Akyol G; Dalgic B; Günel M; Lifton RP
    Hepatology; 2016 Jun; 63(6):1977-86. PubMed ID: 26874653
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Rare causes of hereditary iron overload.
    Ponka P
    Semin Hematol; 2002 Oct; 39(4):249-62. PubMed ID: 12382200
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Mild iron overload in patients carrying the HFE S65C gene mutation: a retrospective study in patients with suspected iron overload and healthy controls.
    Holmström P; Marmur J; Eggertsen G; Gåfvels M; Stål P
    Gut; 2002 Nov; 51(5):723-30. PubMed ID: 12377814
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Considerations for liver transplantation in deoxyguanosine kinase deficiency: A case series and review of the literature.
    Duong JT; Pacheco MC; Hsu E; Blondet N
    Pediatr Transplant; 2024 Feb; 28(1):e14670. PubMed ID: 38149456
    [TBL] [Abstract][Full Text] [Related]  

  • 40. [Analysis of 6 cases with hepatocerebral mitochondrial DNA depletion syndrome and literature review].
    Zhao MX; Wang JS; Gong JY
    Zhonghua Er Ke Za Zhi; 2022 May; 60(5):457-461. PubMed ID: 35488641
    [No Abstract]   [Full Text] [Related]  

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