BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

237 related articles for article (PubMed ID: 27613247)

  • 1. Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT-ND1 gene associated with LHON syndrome.
    Carreño-Gago L; Gamez J; Cámara Y; Alvarez de la Campa E; Aller-Alvarez JS; Moncho D; Salvado M; Galan A; de la Cruz X; Pinós T; García-Arumí E
    Biochim Biophys Acta Mol Basis Dis; 2017 Jan; 1863(1):182-187. PubMed ID: 27613247
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy.
    Ji Y; Zhang J; Yu J; Wang Y; Lu Y; Liang M; Li Q; Jin X; Wei Y; Meng F; Gao Y; Cang X; Tong Y; Liu X; Zhang M; Jiang P; Zhu T; Mo JQ; Huang T; Jiang P; Guan MX
    Hum Mol Genet; 2019 May; 28(9):1515-1529. PubMed ID: 30597069
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mitochondrial ND1 Variants in 1281 Chinese Subjects With Leber's Hereditary Optic Neuropathy.
    Ji Y; Liang M; Zhang J; Zhu L; Zhang Z; Fu R; Liu X; Zhang M; Fu Q; Zhao F; Tong Y; Sun Y; Jiang P; Guan MX
    Invest Ophthalmol Vis Sci; 2016 May; 57(6):2377-89. PubMed ID: 27177320
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mitochondrial DNA mutation m.3635G>A may be associated with Leber hereditary optic neuropathy in Chinese.
    Zhang AM; Zou Y; Guo X; Jia X; Zhang Q; Yao YG
    Biochem Biophys Res Commun; 2009 Aug; 386(2):392-5. PubMed ID: 19527690
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary optic Neuropathy (LHON).
    Peron C; Mauceri R; Cabassi T; Segnali A; Maresca A; Iannielli A; Rizzo A; Sciacca FL; Broccoli V; Carelli V; Tiranti V
    Stem Cell Res; 2020 Oct; 48():101939. PubMed ID: 32771908
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Leber's Hereditary Optic Neuropathy is Associated with Compound Primary Mutations of Mitochondrial ND1 m.3635G > A and ND6 m.14502 T > C.
    Jin X; Wang L; Gong Y; Chen B; Wang Y; Chen T; Wei S
    Ophthalmic Genet; 2015; 36(4):291-8. PubMed ID: 24417559
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Leber's Hereditary Optic Neuropathy-Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India.
    Khan NA; Govindaraj P; Soumittra N; Sharma S; Srilekha S; Ambika S; Vanniarajan A; Meena AK; Uppin MS; Sundaram C; Bindu PS; Gayathri N; Taly AB; Thangaraj K
    Invest Ophthalmol Vis Sci; 2017 Aug; 58(10):3923-3930. PubMed ID: 28768321
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Leber's hereditary optic neuropathy: clinical and molecular genetic results in a patient with a point mutation at np T11253C (isoleucine to threonine) in the ND4 gene and spontaneous recovery.
    Leo-Kottler B; Luberichs J; Besch D; Christ-Adler M; Fauser S
    Graefes Arch Clin Exp Ophthalmol; 2002 Sep; 240(9):758-64. PubMed ID: 12271374
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.
    Caporali L; Iommarini L; La Morgia C; Olivieri A; Achilli A; Maresca A; Valentino ML; Capristo M; Tagliavini F; Del Dotto V; Zanna C; Liguori R; Barboni P; Carbonelli M; Cocetta V; Montopoli M; Martinuzzi A; Cenacchi G; De Michele G; Testa F; Nesti A; Simonelli F; Porcelli AM; Torroni A; Carelli V
    PLoS Genet; 2018 Feb; 14(2):e1007210. PubMed ID: 29444077
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families.
    Zhang J; Jiang P; Jin X; Liu X; Zhang M; Xie S; Gao M; Zhang S; Sun YH; Zhu J; Ji Y; Wei QP; Tong Y; Guan MX
    Mitochondrion; 2014 Sep; 18():18-26. PubMed ID: 25194554
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Assocation Between Leber's Hereditary Optic Neuropathy and MT-ND1 3460G>A Mutation-Induced Alterations in Mitochondrial Function, Apoptosis, and Mitophagy.
    Zhang J; Ji Y; Chen J; Xu M; Wang G; Ci X; Lin B; Mo JQ; Zhou X; Guan MX
    Invest Ophthalmol Vis Sci; 2021 Jul; 62(9):38. PubMed ID: 34311469
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA.
    Catarino CB; Ahting U; Gusic M; Iuso A; Repp B; Peters K; Biskup S; von Livonius B; Prokisch H; Klopstock T
    Mitochondrion; 2017 Sep; 36():15-20. PubMed ID: 27721048
    [TBL] [Abstract][Full Text] [Related]  

  • 13. m.3635G>A mutation as a cause of Leber hereditary optic neuropathy.
    Kodroń A; Krawczyński MR; Tońska K; Bartnik E
    J Clin Pathol; 2014 Jul; 67(7):639-41. PubMed ID: 24747208
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy.
    Jiang P; Liang M; Zhang J; Gao Y; He Z; Yu H; Zhao F; Ji Y; Liu X; Zhang M; Fu Q; Tong Y; Sun Y; Zhou X; Huang T; Qu J; Guan MX
    Invest Ophthalmol Vis Sci; 2015 Jul; 56(8):4778-88. PubMed ID: 26218905
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Leber's hereditary optic neuropathy and limbs abnormity claudication may be associated with the mitochondrial ND1 T3866C mutation].
    Liu Y; Zhuang SL; Tong Y; Qu J; Zhou XT; Zhao FX; Zhang JJ; Zhang YM; Zhang Y; Guan MX
    Yi Chuan; 2010 Feb; 32(2):141-7. PubMed ID: 20176558
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy.
    Ji Y; Zhang J; Lu Y; Yi Q; Chen M; Xie S; Mao X; Xiao Y; Meng F; Zhang M; Yang R; Guan MX
    J Biol Chem; 2020 Sep; 295(38):13224-13238. PubMed ID: 32723871
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions.
    La Morgia C; Caporali L; Gandini F; Olivieri A; Toni F; Nassetti S; Brunetto D; Stipa C; Scaduto C; Parmeggiani A; Tonon C; Lodi R; Torroni A; Carelli V
    BMC Neurol; 2014 May; 14():116. PubMed ID: 24884847
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the
    Vandeputte J; Van Heetvelde M; Van Cauwenbergh C; Seneca S; De Baere E; Leroy BP; De Zaeytijd J
    Ophthalmic Genet; 2021 Aug; 42(4):440-445. PubMed ID: 33858285
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy.
    Liang M; Jiang P; Li F; Zhang J; Ji Y; He Y; Xu M; Zhu J; Meng X; Zhao F; Tong Y; Liu X; Sun Y; Zhou X; Mo JQ; Qu J; Guan MX
    Invest Ophthalmol Vis Sci; 2014 Mar; 55(3):1321-31. PubMed ID: 24398099
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.
    Achilli A; Iommarini L; Olivieri A; Pala M; Hooshiar Kashani B; Reynier P; La Morgia C; Valentino ML; Liguori R; Pizza F; Barboni P; Sadun F; De Negri AM; Zeviani M; Dollfus H; Moulignier A; Ducos G; Orssaud C; Bonneau D; Procaccio V; Leo-Kottler B; Fauser S; Wissinger B; Amati-Bonneau P; Torroni A; Carelli V
    PLoS One; 2012; 7(8):e42242. PubMed ID: 22879922
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.