BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

171 related articles for article (PubMed ID: 24419317)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP.
    Liu S; Rauhut R; Vornlocher HP; Lührmann R
    RNA; 2006 Jul; 12(7):1418-30. PubMed ID: 16723661
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex.
    Gonzalez-Santos JM; Cao H; Duan RC; Hu J
    Hum Mol Genet; 2008 Jan; 17(2):225-39. PubMed ID: 17932117
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 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. Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa.
    Linder B; Dill H; Hirmer A; Brocher J; Lee GP; Mathavan S; Bolz HJ; Winkler C; Laggerbauer B; Fischer U
    Hum Mol Genet; 2011 Jan; 20(2):368-77. PubMed ID: 21051334
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. The human U5 snRNP 52K protein (CD2BP2) interacts with U5-102K (hPrp6), a U4/U6.U5 tri-snRNP bridging protein, but dissociates upon tri-snRNP formation.
    Laggerbauer B; Liu S; Makarov E; Vornlocher HP; Makarova O; Ingelfinger D; Achsel T; Lührmann R
    RNA; 2005 May; 11(5):598-608. PubMed ID: 15840814
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa.
    Hernan I; Gamundi MJ; Borràs E; Maseras M; García-Sandoval B; Blanco-Kelly F; Ayuso C; Carballo M
    Clin Genet; 2012 Nov; 82(5):446-52. PubMed ID: 21981118
    [TBL] [Abstract][Full Text] [Related]  

  • 18. PRPF4 is a novel therapeutic target for the treatment of breast cancer by influencing growth, migration, invasion, and apoptosis of breast cancer cells via p38 MAPK signaling pathway.
    Park S; Han SH; Kim HG; Jeong J; Choi M; Kim HY; Kim MG; Park JK; Han JE; Cho GJ; Kim MO; Ryoo ZY; Choi SK
    Mol Cell Probes; 2019 Oct; 47():101440. PubMed ID: 31445970
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The [U4/U6.U5] tri-snRNP-specific 27K protein is a novel SR protein that can be phosphorylated by the snRNP-associated protein kinase.
    Fetzer S; Lauber J; Will CL; Lührmann R
    RNA; 1997 Apr; 3(4):344-55. PubMed ID: 9085842
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa.
    Martinez-Gimeno M; Maseras M; Baiget M; Beneito M; Antiñolo G; Ayuso C; Carballo M
    Hum Mutat; 2001 Jun; 17(6):520. PubMed ID: 11385710
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.