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 *

249 related articles for article (PubMed ID: 21549338)

  • 1. A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa.
    Tanackovic G; Ransijn A; Ayuso C; Harper S; Berson EL; Rivolta C
    Am J Hum Genet; 2011 May; 88(5):643-9. PubMed ID: 21549338
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31.
    Wilkie SE; Vaclavik V; Wu H; Bujakowska K; Chakarova CF; Bhattacharya SS; Warren MJ; Hunt DM
    Mol Vis; 2008 Apr; 14():683-90. PubMed ID: 18431455
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in spliceosomal proteins and retina degeneration.
    Růžičková Š; Staněk D
    RNA Biol; 2017 May; 14(5):544-552. PubMed ID: 27302685
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa.
    Ivings L; Towns KV; Matin MA; Taylor C; Ponchel F; Grainger RJ; Ramesar RS; Mackey DA; Inglehearn CF
    Mol Vis; 2008; 14():2357-66. PubMed ID: 19096719
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Autosomal dominant retinitis pigmentosa-associated gene PRPF8 is essential for hypoxia-induced mitophagy through regulating ULK1 mRNA splicing.
    Xu G; Li T; Chen J; Li C; Zhao H; Yao C; Dong H; Wen K; Wang K; Zhao J; Xia Q; Zhou T; Zhang H; Gao P; Li A; Pan X
    Autophagy; 2018; 14(10):1818-1830. PubMed ID: 30103670
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion.
    Utz VM; Beight CD; Marino MJ; Hagstrom SA; Traboulsi EI
    Ophthalmic Genet; 2013 Dec; 34(4):183-8. PubMed ID: 23343310
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
    McKie AB; McHale JC; Keen TJ; Tarttelin EE; Goliath R; van Lith-Verhoeven JJ; Greenberg J; Ramesar RS; Hoyng CB; Cremers FP; Mackey DA; Bhattacharya SS; Bird AC; Markham AF; Inglehearn CF
    Hum Mol Genet; 2001 Jul; 10(15):1555-62. PubMed ID: 11468273
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. The role of splicing factors in retinitis pigmentosa: links to cilia.
    Maxwell DW; O'Keefe RT; Roy S; Hentges KE
    Biochem Soc Trans; 2021 Jun; 49(3):1221-1231. PubMed ID: 34060618
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 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. Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient-induced pluripotent stem cell-derived retinal pigment epithelium cells.
    Georgiou M; Yang C; Atkinson R; Pan KT; Buskin A; Molina MM; Collin J; Al-Aama J; Goertler F; Ludwig SEJ; Davey T; Lührmann R; Nagaraja-Grellscheid S; Johnson CA; Ali R; Armstrong L; Korolchuk V; Urlaub H; Mozaffari-Jovin S; Lako M
    Clin Transl Med; 2022 Mar; 12(3):e759. PubMed ID: 35297555
    [TBL] [Abstract][Full Text] [Related]  

  • 18. An integrative analysis of colon cancer identifies an essential function for PRPF6 in tumor growth.
    Adler AS; McCleland ML; Yee S; Yaylaoglu M; Hussain S; Cosino E; Quinones G; Modrusan Z; Seshagiri S; Torres E; Chopra VS; Haley B; Zhang Z; Blackwood EM; Singh M; Junttila M; Stephan JP; Liu J; Pau G; Fearon ER; Jiang Z; Firestein R
    Genes Dev; 2014 May; 28(10):1068-84. PubMed ID: 24788092
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Landscape of pathogenic variants in six pre-mRNA processing factor genes for retinitis pigmentosa based on large in-house data sets and database comparisons.
    Wang J; Xiao X; Li S; Jiang H; Sun W; Wang P; Zhang Q
    Acta Ophthalmol; 2022 Nov; 100(7):e1412-e1425. PubMed ID: 35138024
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.