BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

513 related articles for article (PubMed ID: 24959063)

  • 1. Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.
    Benaglio P; San Jose PF; Avila-Fernandez A; Ascari G; Harper S; Manes G; Ayuso C; Hamel C; Berson EL; Rivolta C
    Mol Vis; 2014; 20():843-51. PubMed ID: 24959063
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Hypoxia-regulated components of the U4/U6.U5 tri-small nuclear riboprotein complex: possible role in autosomal dominant retinitis pigmentosa.
    Schmidt-Kastner R; Yamamoto H; Hamasaki D; Yamamoto H; Parel JM; Schmitz C; Dorey CK; Blanks JC; Preising MN
    Mol Vis; 2008 Jan; 14():125-35. PubMed ID: 18334927
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.
    Zhao C; Bellur DL; Lu S; Zhao F; Grassi MA; Bowne SJ; Sullivan LS; Daiger SP; Chen LJ; Pang CP; Zhao K; Staley JP; Larsson C
    Am J Hum Genet; 2009 Nov; 85(5):617-27. PubMed ID: 19878916
    [TBL] [Abstract][Full Text] [Related]  

  • 4. PRPF4 mutations cause autosomal dominant retinitis pigmentosa.
    Chen X; Liu Y; Sheng X; Tam PO; Zhao K; Chen X; Rong W; Liu Y; Liu X; Pan X; Chen LJ; Zhao Q; Vollrath D; Pang CP; Zhao C
    Hum Mol Genet; 2014 Jun; 23(11):2926-39. PubMed ID: 24419317
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.
    Martínez-Gimeno M; Gamundi MJ; Hernan I; Maseras M; Millá E; Ayuso C; García-Sandoval B; Beneyto M; Vilela C; Baiget M; Antiñolo G; Carballo M
    Invest Ophthalmol Vis Sci; 2003 May; 44(5):2171-7. PubMed ID: 12714658
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing.
    Makarova OV; Makarov EM; Liu S; Vornlocher HP; Lührmann R
    EMBO J; 2002 Mar; 21(5):1148-57. PubMed ID: 11867543
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa.
    Linder B; Hirmer A; Gal A; Rüther K; Bolz HJ; Winkler C; Laggerbauer B; Fischer U
    PLoS One; 2014; 9(11):e111754. PubMed ID: 25383878
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Modeling of autosomal-dominant retinitis pigmentosa in Caenorhabditis elegans uncovers a nexus between global impaired functioning of certain splicing factors and cell type-specific apoptosis.
    Rubio-Peña K; Fontrodona L; Aristizábal-Corrales D; Torres S; Cornes E; García-Rodríguez FJ; Serrat X; González-Knowles D; Foissac S; Porta-De-La-Riva M; Cerón J
    RNA; 2015 Dec; 21(12):2119-31. PubMed ID: 26490224
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Association of PAP-1 and Prp3p, the products of causative genes of dominant retinitis pigmentosa, in the tri-snRNP complex.
    Maita H; Kitaura H; Ariga H; Iguchi-Ariga SM
    Exp Cell Res; 2005 Jan; 302(1):61-8. PubMed ID: 15541726
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa.
    Gamundi MJ; Hernan I; Muntanyola M; Maseras M; López-Romero P; Alvarez R; Dopazo A; Borrego S; Carballo M
    Hum Mutat; 2008 Jun; 29(6):869-78. PubMed ID: 18412284
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa.
    Pan X; Chen X; Liu X; Gao X; Kang X; Xu Q; Chen X; Zhao K; Zhang X; Chu Q; Wang X; Zhao C
    Mol Vis; 2014; 20():770-9. PubMed ID: 24940031
    [TBL] [Abstract][Full Text] [Related]  

  • 12. PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.
    Tanackovic G; Ransijn A; Thibault P; Abou Elela S; Klinck R; Berson EL; Chabot B; Rivolta C
    Hum Mol Genet; 2011 Jun; 20(11):2116-30. PubMed ID: 21378395
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.
    Chakarova CF; Hims MM; Bolz H; Abu-Safieh L; Patel RJ; Papaioannou MG; Inglehearn CF; Keen TJ; Willis C; Moore AT; Rosenberg T; Webster AR; Bird AC; Gal A; Hunt D; Vithana EN; Bhattacharya SS
    Hum Mol Genet; 2002 Jan; 11(1):87-92. PubMed ID: 11773002
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.
    Borràs E; de Sousa Dias M; Hernan I; Pascual B; Mañé B; Gamundi MJ; Delás B; Carballo M
    Clin Genet; 2013 Nov; 84(5):441-52. PubMed ID: 23534816
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
    Sullivan LS; Bowne SJ; Birch DG; Hughbanks-Wheaton D; Heckenlively JR; Lewis RA; Garcia CA; Ruiz RS; Blanton SH; Northrup H; Gire AI; Seaman R; Duzkale H; Spellicy CJ; Zhu J; Shankar SP; Daiger SP
    Invest Ophthalmol Vis Sci; 2006 Jul; 47(7):3052-64. PubMed ID: 16799052
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.
    Waseem NH; Vaclavik V; Webster A; Jenkins SA; Bird AC; Bhattacharya SS
    Invest Ophthalmol Vis Sci; 2007 Mar; 48(3):1330-4. PubMed ID: 17325180
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.
    Van Cauwenbergh C; Coppieters F; Roels D; De Jaegere S; Flipts H; De Zaeytijd J; Walraedt S; Claes C; Fransen E; Van Camp G; Depasse F; Casteels I; de Ravel T; Leroy BP; De Baere E
    PLoS One; 2017; 12(1):e0170038. PubMed ID: 28076437
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.
    de Sousa Dias M; Hernan I; Pascual B; Borràs E; Mañé B; Gamundi MJ; Carballo M
    Mol Vis; 2013; 19():654-64. PubMed ID: 23559859
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Assembly of the U5 snRNP component PRPF8 is controlled by the HSP90/R2TP chaperones.
    Malinová A; Cvačková Z; Matějů D; Hořejší Z; Abéza C; Vandermoere F; Bertrand E; Staněk D; Verheggen C
    J Cell Biol; 2017 Jun; 216(6):1579-1596. PubMed ID: 28515276
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa.
    Zhong Z; Yan M; Sun W; Wu Z; Han L; Zhou Z; Zheng F; Chen J
    Sci Rep; 2016 Nov; 6():37840. PubMed ID: 27886254
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 26.