BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

358 related articles for article (PubMed ID: 25758173)

  • 1. Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia.
    Li Y; Polak U; Bhalla AD; Rozwadowska N; Butler JS; Lynch DR; Dent SYR; Napierala M
    Mol Ther; 2015 Jun; 23(6):1055-1065. PubMed ID: 25758173
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Alleviating GAA Repeat Induced Transcriptional Silencing of the Friedreich's Ataxia Gene During Somatic Cell Reprogramming.
    Polak U; Li Y; Butler JS; Napierala M
    Stem Cells Dev; 2016 Dec; 25(23):1788-1800. PubMed ID: 27615158
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia.
    Anjomani Virmouni S; Ezzatizadeh V; Sandi C; Sandi M; Al-Mahdawi S; Chutake Y; Pook MA
    Dis Model Mech; 2015 Mar; 8(3):225-35. PubMed ID: 25681319
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds.
    Lufino MM; Silva AM; Németh AH; Alegre-Abarrategui J; Russell AJ; Wade-Martins R
    Hum Mol Genet; 2013 Dec; 22(25):5173-87. PubMed ID: 23943791
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A Comprehensive Transcriptome Analysis Identifies FXN and BDNF as Novel Targets of miRNAs in Friedreich's Ataxia Patients.
    Misiorek JO; Schreiber AM; Urbanek-Trzeciak MO; Jazurek-Ciesiołka M; Hauser LA; Lynch DR; Napierala JS; Napierala M
    Mol Neurobiol; 2020 Jun; 57(6):2639-2653. PubMed ID: 32291635
    [TBL] [Abstract][Full Text] [Related]  

  • 7. GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.
    Al-Mahdawi S; Pinto RM; Varshney D; Lawrence L; Lowrie MB; Hughes S; Webster Z; Blake J; Cooper JM; King R; Pook MA
    Genomics; 2006 Nov; 88(5):580-90. PubMed ID: 16919418
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Friedreich's ataxia and frataxin: molecular genetics, evolution and pathogenesis (Review).
    Palau F
    Int J Mol Med; 2001 Jun; 7(6):581-9. PubMed ID: 11351269
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia.
    Bit-Avragim N; Perrot A; Schöls L; Hardt C; Kreuz FR; Zühlke C; Bubel S; Laccone F; Vogel HP; Dietz R; Osterziel KJ
    J Mol Med (Berl); 2001; 78(11):626-32. PubMed ID: 11269509
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Generation and characterization of two human iPSC lines, IGIBi014-A and IGIBi015-A, from Friedreich's ataxia (FRDA) patients with pathogenic (GAA/TTC)n repeat expansion in first intron of the Frataxin (FXN) gene.
    Ahmad I; Kapoor H; Kumar Srivastava A; Faruq M
    Stem Cell Res; 2024 Feb; 74():103289. PubMed ID: 38141359
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Role of mismatch repair enzymes in GAA·TTC triplet-repeat expansion in Friedreich ataxia induced pluripotent stem cells.
    Du J; Campau E; Soragni E; Ku S; Puckett JW; Dervan PB; Gottesfeld JM
    J Biol Chem; 2012 Aug; 287(35):29861-72. PubMed ID: 22798143
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Base excision repair of chemotherapeutically-induced alkylated DNA damage predominantly causes contractions of expanded GAA repeats associated with Friedreich's ataxia.
    Lai Y; Beaver JM; Lorente K; Melo J; Ramjagsingh S; Agoulnik IU; Zhang Z; Liu Y
    PLoS One; 2014; 9(4):e93464. PubMed ID: 24691413
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models.
    Sandi C; Sandi M; Jassal H; Ezzatizadeh V; Anjomani-Virmouni S; Al-Mahdawi S; Pook MA
    PLoS One; 2014; 9(2):e89488. PubMed ID: 24586819
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia.
    Santoro M; Perna A; La Rosa P; Petrillo S; Piemonte F; Rossi S; Riso V; Nicoletti TF; Modoni A; Pomponi MG; Chiurazzi P; Silvestri G
    Neurogenetics; 2020 Oct; 21(4):279-287. PubMed ID: 32638185
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Stalled DNA Replication Forks at the Endogenous GAA Repeats Drive Repeat Expansion in Friedreich's Ataxia Cells.
    Gerhardt J; Bhalla AD; Butler JS; Puckett JW; Dervan PB; Rosenwaks Z; Napierala M
    Cell Rep; 2016 Aug; 16(5):1218-1227. PubMed ID: 27425605
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus.
    Li Y; Lu Y; Polak U; Lin K; Shen J; Farmer J; Seyer L; Bhalla AD; Rozwadowska N; Lynch DR; Butler JS; Napierala M
    Hum Mol Genet; 2015 Dec; 24(24):6932-43. PubMed ID: 26401053
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 18.