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 *

325 related articles for article (PubMed ID: 23474817)

  • 21. Friedreich's Ataxia: from the (GAA)n repeat mediated silencing to new promising molecules for therapy.
    Marmolino D; Acquaviva F
    Cerebellum; 2009 Sep; 8(3):245-59. PubMed ID: 19165552
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Generation and characterization of iPSC lines from Friedreich's ataxia patient (FRDA) with GAA.TTC repeat expansion in the Frataxin (FXN) gene's first intron (IGIBi016-A) and a non-FRDA healthy control individual (IGIBi017-A).
    Ahmad I; Kamai A; Zahra S; Kapoor H; Kumar Srivastava A; Faruq M
    Stem Cell Res; 2024 Jun; 77():103382. PubMed ID: 38484450
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study.
    Libri V; Yandim C; Athanasopoulos S; Loyse N; Natisvili T; Law PP; Chan PK; Mohammad T; Mauri M; Tam KT; Leiper J; Piper S; Ramesh A; Parkinson MH; Huson L; Giunti P; Festenstein R
    Lancet; 2014 Aug; 384(9942):504-13. PubMed ID: 24794816
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Excision of the expanded GAA repeats corrects cardiomyopathy phenotypes of iPSC-derived Friedreich's ataxia cardiomyocytes.
    Li J; Rozwadowska N; Clark A; Fil D; Napierala JS; Napierala M
    Stem Cell Res; 2019 Oct; 40():101529. PubMed ID: 31446150
    [TBL] [Abstract][Full Text] [Related]  

  • 25. MutLα heterodimers modify the molecular phenotype of Friedreich ataxia.
    Ezzatizadeh V; Sandi C; Sandi M; Anjomani-Virmouni S; Al-Mahdawi S; Pook MA
    PLoS One; 2014; 9(6):e100523. PubMed ID: 24971578
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Complete FXN deletion in a patient with Friedreich's ataxia.
    van den Ouweland AM; van Minkelen R; Bolman GM; Wouters CH; Becht-Noordermeer C; Deelen WH; Deelen-Manders JM; Ippel EP; Saris J; Halley DJ
    Genet Test Mol Biomarkers; 2012 Sep; 16(9):1015-8. PubMed ID: 22691228
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Generation of two human induced pluripotent stem cell lines, IGIBi012-A and IGIBi013-A from Friedreich's ataxia (FRDA) patients with homozygous GAA repeat expansion in FXN gene.
    Ahmad I; Kapoor H; Srivastava AK; Faruq M
    Stem Cell Res; 2024 Apr; 76():103340. PubMed ID: 38367363
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Somatic instability of the expanded GAA repeats in Friedreich's ataxia.
    Long A; Napierala JS; Polak U; Hauser L; Koeppen AH; Lynch DR; Napierala M
    PLoS One; 2017; 12(12):e0189990. PubMed ID: 29261783
    [TBL] [Abstract][Full Text] [Related]  

  • 29. HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model.
    Rai M; Soragni E; Jenssen K; Burnett R; Herman D; Coppola G; Geschwind DH; Gottesfeld JM; Pandolfo M
    PLoS One; 2008 Apr; 3(4):e1958. PubMed ID: 18463734
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Reversal of epigenetic promoter silencing in Friedreich ataxia by a class I histone deacetylase inhibitor.
    Chutake YK; Lam CC; Costello WN; Anderson MP; Bidichandani SI
    Nucleic Acids Res; 2016 Jun; 44(11):5095-104. PubMed ID: 26896803
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Mechanism of Action of 2-Aminobenzamide HDAC Inhibitors in Reversing Gene Silencing in Friedreich's Ataxia.
    Soragni E; Chou CJ; Rusche JR; Gottesfeld JM
    Front Neurol; 2015; 6():44. PubMed ID: 25798128
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia.
    Fil D; Chacko BK; Conley R; Ouyang X; Zhang J; Darley-Usmar VM; Zuberi AR; Lutz CM; Napierala M; Napierala JS
    Dis Model Mech; 2020 Jul; 13(7):. PubMed ID: 32586831
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation.
    Punga T; Bühler M
    EMBO Mol Med; 2010 Apr; 2(4):120-9. PubMed ID: 20373285
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Molecular Mechanisms and Therapeutics for the GAA·TTC Expansion Disease Friedreich Ataxia.
    Gottesfeld JM
    Neurotherapeutics; 2019 Oct; 16(4):1032-1049. PubMed ID: 31317428
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Neurobehavioral deficits of mice expressing a low level of G127V mutant frataxin.
    Fil D; Conley RL; Zuberi AR; Lutz CM; Gemelli T; Napierala M; Napierala JS
    Neurobiol Dis; 2023 Feb; 177():105996. PubMed ID: 36638893
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients.
    De Castro M; García-Planells J; Monrós E; Cañizares J; Vázquez-Manrique R; Vílchez JJ; Urtasun M; Lucas M; Navarro G; Izquierdo G; Moltó MD; Palau F
    Hum Genet; 2000 Jan; 106(1):86-92. PubMed ID: 10982187
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus.
    Al-Mahdawi S; Sandi C; Mouro Pinto R; Pook MA
    PLoS One; 2013; 8(9):e74956. PubMed ID: 24023969
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Generation of transgene-free iPSC lines from three patients with Friedreich's ataxia (FRDA) carrying GAA triplet expansions in the first intron of FXN gene.
    Kelekçi S; Uğurlu-Çimen D; Demir AB; Özçimen B; Burak Yıldız A; Batuhan Karakuş M; Börklü Yücel E; Önder TT
    Stem Cell Res; 2021 Jul; 54():102438. PubMed ID: 34214898
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich ataxia.
    Anjomani Virmouni S; Sandi C; Al-Mahdawi S; Pook MA
    PLoS One; 2014; 9(9):e107416. PubMed ID: 25198290
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies.
    Bayot A; Reichman S; Lebon S; Csaba Z; Aubry L; Sterkers G; Husson I; Rak M; Rustin P
    Hum Mol Genet; 2013 Jul; 22(14):2894-904. PubMed ID: 23552101
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 17.