BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

177 related articles for article (PubMed ID: 22723017)

  • 61. Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.
    Wheway G; Douglas A; Baralle D; Guillot E
    Exp Eye Res; 2020 Mar; 192():107950. PubMed ID: 32014492
    [TBL] [Abstract][Full Text] [Related]  

  • 62. Novel 2336-2337delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa.
    Kawamura M; Wada Y; Noda Y; Itabashi T; Ogawa S; Sato H; Tanaka K; Ishibashi T; Tamai M
    Am J Ophthalmol; 2004 Jun; 137(6):1137-9. PubMed ID: 15183808
    [TBL] [Abstract][Full Text] [Related]  

  • 63. Promoter analysis of TFPT (FB1), a molecular partner of TCF3 (E2A) in childhood acute lymphoblastic leukemia.
    Brambillasca F; Mosna G; Ballabio E; Biondi A; Boulukos KE; Privitera E
    Biochem Biophys Res Commun; 2001 Nov; 288(5):1250-7. PubMed ID: 11700047
    [TBL] [Abstract][Full Text] [Related]  

  • 64. Determinants of Disease Penetrance in
    McLenachan S; Zhang D; Grainok J; Zhang X; Huang Z; Chen SC; Zaw K; Lima A; Jennings L; Roshandel D; Moon SY; Heath Jeffery RC; Attia MS; Thompson JA; Lamey TM; McLaren TL; De Roach J; Fletcher S; Chen FK
    Genes (Basel); 2021 Sep; 12(10):. PubMed ID: 34680937
    [TBL] [Abstract][Full Text] [Related]  

  • 65. Efficient transcription of the human angiotensin II type 2 receptor gene requires intronic sequence elements.
    Warnecke C; Willich T; Holzmeister J; Bottari SP; Fleck E; Regitz-Zagrosek V
    Biochem J; 1999 May; 340 ( Pt 1)(Pt 1):17-24. PubMed ID: 10229654
    [TBL] [Abstract][Full Text] [Related]  

  • 66. Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells.
    Yuan L; Kawada M; Havlioglu N; Tang H; Wu JY
    J Neurosci; 2005 Jan; 25(3):748-57. PubMed ID: 15659613
    [TBL] [Abstract][Full Text] [Related]  

  • 67. A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration.
    Lu F; Huang L; Lei C; Sha G; Zheng H; Liu X; Yang J; Shi Y; Lin Y; Gong B; Zhu X; Ma S; Qiao L; Lin H; Cheng J; Yang Z
    PLoS One; 2013; 8(11):e78274. PubMed ID: 24244300
    [TBL] [Abstract][Full Text] [Related]  

  • 68. 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]  

  • 69. E-box regulation of gonadotropin-releasing hormone (GnRH) receptor expression in immortalized gonadotrope cells.
    Resuehr D; Wildemann U; Sikes H; Olcese J
    Mol Cell Endocrinol; 2007 Nov; 278(1-2):36-43. PubMed ID: 17928134
    [TBL] [Abstract][Full Text] [Related]  

  • 70. Polymorphisms in the osteopontin promoter affect its transcriptional activity.
    Giacopelli F; Marciano R; Pistorio A; Catarsi P; Canini S; Karsenty G; Ravazzolo R
    Physiol Genomics; 2004 Dec; 20(1):87-96. PubMed ID: 15479859
    [TBL] [Abstract][Full Text] [Related]  

  • 71. 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]  

  • 72. Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern Sweden.
    Golovleva I; Köhn L; Burstedt M; Daiger S; Sandgren O
    Adv Exp Med Biol; 2010; 664():255-62. PubMed ID: 20238024
    [TBL] [Abstract][Full Text] [Related]  

  • 73. A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
    Xia K; Zheng D; Pan Q; Liu Z; Xi X; Hu Z; Deng H; Liu X; Jiang D; Deng H; Xia J
    Mol Vis; 2004 May; 10():361-5. PubMed ID: 15162096
    [TBL] [Abstract][Full Text] [Related]  

  • 74. Differential promoter activities of functional haplotypes in the 5'-flanking region of human sulfotransferase 1A1.
    Lin ZN; Lin YC; Zhang X; Kadlubar S; Tuo J; Green B; Deng H; Ning B
    J Biochem Mol Toxicol; 2012 Oct; 26(10):422-8. PubMed ID: 23080433
    [TBL] [Abstract][Full Text] [Related]  

  • 75. Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins.
    Valdés-Sánchez L; Calado SM; de la Cerda B; Aramburu A; García-Delgado AB; Massalini S; Montero-Sánchez A; Bhatia V; Rodríguez-Bocanegra E; Diez-Lloret A; Rodríguez-Martínez D; Chakarova C; Bhattacharya SS; Díaz-Corrales FJ
    Mol Med; 2019 Dec; 26(1):1. PubMed ID: 31892304
    [TBL] [Abstract][Full Text] [Related]  

  • 76. Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31.
    Ghazawy S; Springell K; Gauba V; McKibbin MA; Inglehearn CF
    Br J Ophthalmol; 2007 Oct; 91(10):1411-3. PubMed ID: 17895420
    [No Abstract]   [Full Text] [Related]  

  • 77. Span poly-L-arginine nanoparticles are efficient non-viral vectors for PRPF31 gene delivery: An approach of gene therapy to treat retinitis pigmentosa.
    Pensado A; Diaz-Corrales FJ; De la Cerda B; Valdés-Sánchez L; Del Boz AA; Rodriguez-Martinez D; García-Delgado AB; Seijo B; Bhattacharya SS; Sanchez A
    Nanomedicine; 2016 Nov; 12(8):2251-2260. PubMed ID: 27381066
    [TBL] [Abstract][Full Text] [Related]  

  • 78. A study of the nuclear trafficking of the splicing factor protein PRPF31 linked to autosomal dominant retinitis pigmentosa (ADRP).
    Wilkie SE; Morris KJ; Bhattacharya SS; Warren MJ; Hunt DM
    Biochim Biophys Acta; 2006 Mar; 1762(3):304-11. PubMed ID: 16427773
    [TBL] [Abstract][Full Text] [Related]  

  • 79. Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing.
    Xiao X; Cao Y; Zhang Z; Xu Y; Zheng Y; Chen LJ; Pang CP; Chen H
    Invest Ophthalmol Vis Sci; 2017 Dec; 58(14):6342-6350. PubMed ID: 29260190
    [TBL] [Abstract][Full Text] [Related]  

  • 80. 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]  

    [Previous]   [Next]    [New Search]
    of 9.