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 *

209 related articles for article (PubMed ID: 31550237)

  • 1. Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.
    Piro-Mégy C; Sarzi E; Tarrés-Solé A; Péquignot M; Hensen F; Quilès M; Manes G; Chakraborty A; Sénéchal A; Bocquet B; Cazevieille C; Roubertie A; Müller A; Charif M; Goudenège D; Lenaers G; Wilhelm H; Kellner U; Weisschuh N; Wissinger B; Zanlonghi X; Hamel C; Spelbrink JN; Sola M; Delettre C
    J Clin Invest; 2020 Jan; 130(1):143-156. PubMed ID: 31550237
    [TBL] [Abstract][Full Text] [Related]  

  • 2. SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
    Del Dotto V; Ullah F; Di Meo I; Magini P; Gusic M; Maresca A; Caporali L; Palombo F; Tagliavini F; Baugh EH; Macao B; Szilagyi Z; Peron C; Gustafson MA; Khan K; La Morgia C; Barboni P; Carbonelli M; Valentino ML; Liguori R; Shashi V; Sullivan J; Nagaraj S; El-Dairi M; Iannaccone A; Cutcutache I; Bertini E; Carrozzo R; Emma F; Diomedi-Camassei F; Zanna C; Armstrong M; Page M; Stong N; Boesch S; Kopajtich R; Wortmann S; Sperl W; Davis EE; Copeland WC; Seri M; Falkenberg M; Prokisch H; Katsanis N; Tiranti V; Pippucci T; Carelli V
    J Clin Invest; 2020 Jan; 130(1):108-125. PubMed ID: 31550240
    [TBL] [Abstract][Full Text] [Related]  

  • 3. OPA1 and disease-causing mutants perturb mitochondrial nucleoid distribution.
    Macuada J; Molina-Riquelme I; Vidal G; Pérez-Bravo N; Vásquez-Trincado C; Aedo G; Lagos D; Yu-Wai-Man P; Horvath R; Rudge TJ; Cartes-Saavedra B; Eisner V
    Cell Death Dis; 2024 Nov; 15(11):870. PubMed ID: 39616197
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.
    Liao C; Ashley N; Diot A; Morten K; Phadwal K; Williams A; Fearnley I; Rosser L; Lowndes J; Fratter C; Ferguson DJ; Vay L; Quaghebeur G; Moroni I; Bianchi S; Lamperti C; Downes SM; Sitarz KS; Flannery PJ; Carver J; Dombi E; East D; Laura M; Reilly MM; Mortiboys H; Prevo R; Campanella M; Daniels MJ; Zeviani M; Yu-Wai-Man P; Simon AK; Votruba M; Poulton J
    Neurology; 2017 Jan; 88(2):131-142. PubMed ID: 27974645
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations.
    Amiott EA; Lott P; Soto J; Kang PB; McCaffery JM; DiMauro S; Abel ED; Flanigan KM; Lawson VH; Shaw JM
    Exp Neurol; 2008 May; 211(1):115-27. PubMed ID: 18316077
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The dysregulation of mitochondrial homeostasis-related genes could be involved in the decrease of mtDNA copy number in systemic lupus erythematosus patients.
    De Benedittis G; Latini A; Morgante C; Perricone C; Ceccarelli F; Novelli G; Novelli L; Ciccacci C; Borgiani P
    Immunol Res; 2024 Dec; 72(6):1384-1392. PubMed ID: 39230799
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Respiratory Chain Complex I Deficiency in Leber Hereditary Optic Neuropathy: Insights from Ophthalmologic and Molecular Investigations in Tunisia.
    Chkioua L; Amri Y; Sahli C; Nasri T; Miladi MO; Massoud T; Laradi S; Ghorbel M; Ben Abdennebi H
    BMC Genomics; 2024 Nov; 25(1):1133. PubMed ID: 39578757
    [TBL] [Abstract][Full Text] [Related]  

  • 8. CHCHD10 mutations induce tissue-specific mitochondrial DNA deletions with a distinct signature.
    Shammas MK; Nie Y; Gilsrud A; Huang X; Narendra DP; Chinnery PF
    Hum Mol Genet; 2023 Dec; 33(1):91-101. PubMed ID: 37815936
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genomic and Bioinformatics Analysis of Familial Partial Lipodystrophy Type 3 Identified in a Patient with Novel PPARγ Mutation and Robust Response to Pioglitazone.
    Hummadi A; Yafei S; Mutawwam DA; Abutaleb R; Solan Y; Khawaji A; Alhagawy AJ; Algohani T; Khardali M; Hakami M; Daghriri A; Hezam W; Kariri N
    Int J Mol Sci; 2024 Nov; 25(22):. PubMed ID: 39596129
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.
    Gupta R; Kanai M; Durham TJ; Tsuo K; McCoy JG; Kotrys AV; Zhou W; Chinnery PF; Karczewski KJ; Calvo SE; Neale BM; Mootha VK
    Nature; 2023 Aug; 620(7975):839-848. PubMed ID: 37587338
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Enabling Systemic Identification and Functionality Profiling for Cdc42 Homeostatic Modulators.
    Malasala S; Azimian F; Chen YH; Twiss JL; Boykin C; Akhtar SN; Lu Q
    bioRxiv; 2024 Jan; ():. PubMed ID: 38260445
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
    Melchionda L; Haack TB; Hardy S; Abbink TE; Fernandez-Vizarra E; Lamantea E; Marchet S; Morandi L; Moggio M; Carrozzo R; Torraco A; Diodato D; Strom TM; Meitinger T; Tekturk P; Yapici Z; Al-Murshedi F; Stevens R; Rodenburg RJ; Lamperti C; Ardissone A; Moroni I; Uziel G; Prokisch H; Taylor RW; Bertini E; van der Knaap MS; Ghezzi D; Zeviani M
    Am J Hum Genet; 2014 Sep; 95(3):315-25. PubMed ID: 25175347
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
    Németh AH; Kwasniewska AC; Lise S; Parolin Schnekenberg R; Becker EB; Bera KD; Shanks ME; Gregory L; Buck D; Zameel Cader M; Talbot K; de Silva R; Fletcher N; Hastings R; Jayawant S; Morrison PJ; Worth P; Taylor M; Tolmie J; O'Regan M; ; Valentine R; Packham E; Evans J; Seller A; Ragoussis J
    Brain; 2013 Oct; 136(Pt 10):3106-18. PubMed ID: 24030952
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Impact of residual disease as a prognostic factor for survival in women with advanced epithelial ovarian cancer after primary surgery.
    Bryant A; Hiu S; Kunonga PT; Gajjar K; Craig D; Vale L; Winter-Roach BA; Elattar A; Naik R
    Cochrane Database Syst Rev; 2022 Sep; 9(9):CD015048. PubMed ID: 36161421
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.
    Gustafson MA; McCormick EM; Perera L; Longley MJ; Bai R; Kong J; Dulik M; Shen L; Goldstein AC; McCormack SE; Laskin BL; Leroy BP; Ortiz-Gonzalez XR; Ellington MG; Copeland WC; Falk MJ
    PLoS One; 2019; 14(9):e0221829. PubMed ID: 31479473
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Dynamic Field Theory of Executive Function: Identifying Early Neurocognitive Markers.
    McCraw A; Sullivan J; Lowery K; Eddings R; Heim HR; Buss AT
    Monogr Soc Res Child Dev; 2024 Dec; 89(3):7-109. PubMed ID: 39628288
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Graph Convolutional Network for AD and MCI Diagnosis Utilizing Peripheral DNA Methylation: Réseau de neurones en graphes pour le diagnostic de la MA et du TCL à l'aide de la méthylation de l'ADN périphérique.
    Qian Y; Tang X; Shen R; Lu Y; Ding J; Qian X; Zhang C
    Can J Psychiatry; 2024 Dec; 69(12):869-879. PubMed ID: 39584743
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals.
    Fuse N; Kimura M; Shimizu A; Koshiba S; Hamanaka T; Nakamura M; Ishida N; Sakai H; Ikeda Y; Mori K; Endo A; Nagasaki M; Katsuoka F; Yasuda J; Matsubara Y; Nakazawa T; Yamamoto M
    Jpn J Ophthalmol; 2024 Nov; 68(6):688-701. PubMed ID: 39158757
    [TBL] [Abstract][Full Text] [Related]  

  • 19. PURA syndrome-causing mutations impair PUR-domain integrity and affect P-body association.
    Proske M; Janowski R; Bacher S; Kang HS; Monecke T; Koehler T; Hutten S; Tretter J; Crois A; Molitor L; Varela-Rial A; Fino R; Donati E; De Fabritiis G; Dormann D; Sattler M; Niessing D
    Elife; 2024 Apr; 13():. PubMed ID: 38655849
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 11.