These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

123 related articles for article (PubMed ID: 31991853)

  • 1. Camptocormia as a Novel Phenotype in a Heterozygous
    Lehmann Urban D; Motlagh Scholle L; Alt K; Ludolph AC; Rosenbohm A
    Diagnostics (Basel); 2020 Jan; 10(2):. PubMed ID: 31991853
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.
    Walter MC; Czermin B; Muller-Ziermann S; Bulst S; Stewart JD; Hudson G; Schneiderat P; Abicht A; Holinski-Feder E; Lochmüller H; Chinnery PF; Klopstock T; Horvath R
    J Neurol; 2010 Sep; 257(9):1517-23. PubMed ID: 20405137
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment.
    Brañas Casas R; Zuppardo A; Risato G; Dinarello A; Celeghin R; Fontana C; Grelloni E; Gilea AI; Viscomi C; Rasola A; Dalla Valle L; Lodi T; Baruffini E; Facchinello N; Argenton F; Tiso N
    Cell Death Dis; 2024 Apr; 15(4):281. PubMed ID: 38643274
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.
    Varma H; Faust PL; Iglesias AD; Lagana SM; Wou K; Hirano M; DiMauro S; Mansukani MM; Hoff KE; Nagy PL; Copeland WC; Naini AB
    Eur J Med Genet; 2016 Oct; 59(10):540-5. PubMed ID: 27592148
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.
    Hoff KE; DeBalsi KL; Sanchez-Quintero MJ; Longley MJ; Hirano M; Naini AB; Copeland WC
    PLoS One; 2018; 13(8):e0203198. PubMed ID: 30157269
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Polg2 is essential for mammalian embryogenesis and is required for mtDNA maintenance.
    Humble MM; Young MJ; Foley JF; Pandiri AR; Travlos GS; Copeland WC
    Hum Mol Genet; 2013 Mar; 22(5):1017-25. PubMed ID: 23197651
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion.
    Dosekova P; Dubiel A; Karlowicz A; Zietkiewicz S; Rydzanicz M; Habalova V; Pienkowski VM; Skirkova M; Han V; Mosejova A; Gdovinova Z; Kaliszewska M; Tońska K; Szymanski MR; Skorvanek M; Ploski R
    Eur J Med Genet; 2020 Apr; 63(4):103821. PubMed ID: 31778857
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.
    Ferraris S; Clark S; Garelli E; Davidzon G; Moore SA; Kardon RH; Bienstock RJ; Longley MJ; Mancuso M; Gutiérrez Ríos P; Hirano M; Copeland WC; DiMauro S
    Arch Neurol; 2008 Jan; 65(1):125-31. PubMed ID: 18195150
    [TBL] [Abstract][Full Text] [Related]  

  • 9. POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.
    Borsche M; Dulovic-Mahlow M; Baumann H; Tunc S; Lüth T; Schaake S; Özcakir S; Westenberger A; Münchau A; Knappe E; Trinh J; Brüggemann N; Lohmann K
    Cerebellum; 2024 Apr; 23(2):479-488. PubMed ID: 37085601
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.
    Cohen BH; Naviaux RK
    Methods; 2010 Aug; 51(4):364-73. PubMed ID: 20558295
    [TBL] [Abstract][Full Text] [Related]  

  • 11. POLG2 disease variants: analyses reveal a dominant negative heterodimer, altered mitochondrial localization and impaired respiratory capacity.
    Young MJ; Humble MM; DeBalsi KL; Sun KY; Copeland WC
    Hum Mol Genet; 2015 Sep; 24(18):5184-97. PubMed ID: 26123486
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Biochemical analysis of human POLG2 variants associated with mitochondrial disease.
    Young MJ; Longley MJ; Li FY; Kasiviswanathan R; Wong LJ; Copeland WC
    Hum Mol Genet; 2011 Aug; 20(15):3052-66. PubMed ID: 21555342
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Homozygous R627W mutations in POLG cause mitochondrial DNA depletion leading to encephalopathy, seizures and stroke-like episodes.
    Paramasivam A; Venkatapathi C; Sandeep G; Meena AK; Uppin MS; Mohapatra S; Pitceathly RDS; Thangaraj K
    Mitochondrion; 2019 Sep; 48():78-83. PubMed ID: 31425757
    [TBL] [Abstract][Full Text] [Related]  

  • 14. An N-Ethyl-N-Nitrosourea (ENU)-Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice.
    Gorvin CM; Ahmad BN; Stechman MJ; Loh NY; Hough TA; Leo P; Marshall M; Sethi S; Bentley L; Piret SE; Reed A; Jeyabalan J; Christie PT; Wells S; Simon MM; Mallon AM; Schulz H; Huebner N; Brown MA; Cox RD; Brown SD; Thakker RV
    J Bone Miner Res; 2019 Mar; 34(3):497-507. PubMed ID: 30395686
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Structure-specific roles for PolG2-DNA complexes in maintenance and replication of mitochondrial DNA.
    Wojtaszek JL; Hoff KE; Longley MJ; Kaur P; Andres SN; Wang H; Williams RS; Copeland WC
    Nucleic Acids Res; 2023 Oct; 51(18):9716-9732. PubMed ID: 37592734
    [TBL] [Abstract][Full Text] [Related]  

  • 16. POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.
    Di Fonzo A; Bordoni A; Crimi M; Sara G; Del Bo R; Bresolin N; Comi GP
    Hum Mutat; 2003 Dec; 22(6):498-9. PubMed ID: 14635118
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Familial progressive external opthalmoplegia, parkinsonism and polyneuropathy associated with POLG1 mutation].
    Mukai M; Sugaya K; Matsubara S; Cai H; Yabe I; Sasaki H; Nakano I
    Rinsho Shinkeigaku; 2014; 54(5):417-22. PubMed ID: 24943079
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion.
    Felhi R; Sfaihi L; Charif M; Desquiret-Dumas V; Bris C; Goudenège D; Ammar-Keskes L; Hachicha M; Bonneau D; Procaccio V; Reynier P; Amati-Bonneau P; Lenaers G; Fakhfakh F
    Clin Chim Acta; 2019 Jan; 488():104-110. PubMed ID: 30395865
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mitochondrial DNA replication during differentiation of murine embryonic stem cells.
    Facucho-Oliveira JM; Alderson J; Spikings EC; Egginton S; St John JC
    J Cell Sci; 2007 Nov; 120(Pt 22):4025-34. PubMed ID: 17971411
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Polymerase subunit gamma 2 affects porcine oocyte maturation and subsequent embryonic development.
    Lee SK; Zhao MH; Zheng Z; Kwon JW; Liang S; Kim SH; Kim NH; Cui XS
    Theriogenology; 2015 Jan; 83(1):121-30. PubMed ID: 25308052
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.