BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

252 related articles for article (PubMed ID: 31033086)

  • 1. Modified U1 snRNA and antisense oligonucleotides rescue splice mutations in SLC26A4 that cause hereditary hearing loss.
    Lee B; Kim YR; Kim SJ; Goh SH; Kim JH; Oh SK; Baek JI; Kim UK; Lee KY
    Hum Mutat; 2019 Aug; 40(8):1172-1180. PubMed ID: 31033086
    [TBL] [Abstract][Full Text] [Related]  

  • 2. An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects.
    Fernandez Alanis E; Pinotti M; Dal Mas A; Balestra D; Cavallari N; Rogalska ME; Bernardi F; Pagani F
    Hum Mol Genet; 2012 Jun; 21(11):2389-98. PubMed ID: 22362925
    [TBL] [Abstract][Full Text] [Related]  

  • 3. How to Design U1 snRNA Molecules for Splicing Rescue.
    Matos L; Santos JI; Coutinho MF; Alves S
    Methods Mol Biol; 2022; 2434():89-102. PubMed ID: 35213011
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Defining a 5' splice site by functional selection in the presence and absence of U1 snRNA 5' end.
    Lund M; Kjems J
    RNA; 2002 Feb; 8(2):166-79. PubMed ID: 11911363
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Restoration of correct splicing of thalassemic beta-globin pre-mRNA by modified U1 snRNAs.
    Gorman L; Mercatante DR; Kole R
    J Biol Chem; 2000 Nov; 275(46):35914-9. PubMed ID: 10969081
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.
    Martínez-Pizarro A; Dembic M; Pérez B; Andresen BS; Desviat LR
    PLoS Genet; 2018 Apr; 14(4):e1007360. PubMed ID: 29684050
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Stem-loop 4 of U1 snRNA is essential for splicing and interacts with the U2 snRNP-specific SF3A1 protein during spliceosome assembly.
    Sharma S; Wongpalee SP; Vashisht A; Wohlschlegel JA; Black DL
    Genes Dev; 2014 Nov; 28(22):2518-31. PubMed ID: 25403181
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Upregulation of functional Kv11.1a isoform expression by modified U1 small nuclear RNA.
    Gong Q; Stump MR; Zhou Z
    Gene; 2018 Jan; 641():220-225. PubMed ID: 29066300
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Extended base pair complementarity between U1 snRNA and the 5' splice site does not inhibit splicing in higher eukaryotes, but rather increases 5' splice site recognition.
    Freund M; Hicks MJ; Konermann C; Otte M; Hertel KJ; Schaal H
    Nucleic Acids Res; 2005; 33(16):5112-9. PubMed ID: 16155183
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Use of modified U1 small nuclear RNA for rescue from exon 7 skipping caused by 5'-splice site mutation of human cathepsin A gene.
    Yamazaki N; Kanazawa K; Kimura M; Ike H; Shinomiya M; Tanaka S; Shinohara Y; Minakawa N; Itoh K; Takiguchi Y
    Gene; 2018 Nov; 677():41-48. PubMed ID: 30010039
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel SLC26A4 splicing mutation identified in two deaf Chinese twin sisters with enlarged vestibular aqueducts.
    Zhou K; Huang L; Feng M; Li X; Zhao Y; Liu F; Wei J; Qin D; Lu Q; Shi M; Qu S; Tang F
    Mol Genet Genomic Med; 2020 Oct; 8(10):e1447. PubMed ID: 32770655
    [TBL] [Abstract][Full Text] [Related]  

  • 12. High-throughput analysis revealed mutations' diverging effects on
    Souček P; Réblová K; Kramárek M; Radová L; Grymová T; Hujová P; Kováčová T; Lexa M; Grodecká L; Freiberger T
    RNA Biol; 2019 Oct; 16(10):1364-1376. PubMed ID: 31213135
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel U1/U5 interaction indicates proximity between U1 and U5 snRNAs during an early step of mRNA splicing.
    Ast G; Weiner AM
    RNA; 1997 Apr; 3(4):371-81. PubMed ID: 9085844
    [TBL] [Abstract][Full Text] [Related]  

  • 14. TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.
    Susani L; Pangrazio A; Sobacchi C; Taranta A; Mortier G; Savarirayan R; Villa A; Orchard P; Vezzoni P; Albertini A; Frattini A; Pagani F
    Hum Mutat; 2004 Sep; 24(3):225-35. PubMed ID: 15300850
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The sequence complementarity between HIV-1 5' splice site SD4 and U1 snRNA determines the steady-state level of an unstable env pre-mRNA.
    Kammler S; Leurs C; Freund M; Krummheuer J; Seidel K; Tange TO; Lund MK; Kjems J; Scheid A; Schaal H
    RNA; 2001 Mar; 7(3):421-34. PubMed ID: 11333022
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Activation of a cryptic 5' splice site by U1 snRNA.
    Alvarez CJ; Wise JA
    RNA; 2001 Mar; 7(3):342-50. PubMed ID: 11333015
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.
    Suzuki H; Kumar SA; Shuai S; Diaz-Navarro A; Gutierrez-Fernandez A; De Antonellis P; Cavalli FMG; Juraschka K; Farooq H; Shibahara I; Vladoiu MC; Zhang J; Abeysundara N; Przelicki D; Skowron P; Gauer N; Luu B; Daniels C; Wu X; Forget A; Momin A; Wang J; Dong W; Kim SK; Grajkowska WA; Jouvet A; Fèvre-Montange M; Garrè ML; Nageswara Rao AA; Giannini C; Kros JM; French PJ; Jabado N; Ng HK; Poon WS; Eberhart CG; Pollack IF; Olson JM; Weiss WA; Kumabe T; López-Aguilar E; Lach B; Massimino M; Van Meir EG; Rubin JB; Vibhakar R; Chambless LB; Kijima N; Klekner A; Bognár L; Chan JA; Faria CC; Ragoussis J; Pfister SM; Goldenberg A; Wechsler-Reya RJ; Bailey SD; Garzia L; Morrissy AS; Marra MA; Huang X; Malkin D; Ayrault O; Ramaswamy V; Puente XS; Calarco JA; Stein L; Taylor MD
    Nature; 2019 Oct; 574(7780):707-711. PubMed ID: 31664194
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?
    Ohno K; Brengman JM; Felice KJ; Cornblath DR; Engel AG
    Am J Hum Genet; 1999 Sep; 65(3):635-44. PubMed ID: 10441569
    [TBL] [Abstract][Full Text] [Related]  

  • 19. SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct.
    Chao JR; Chattaraj P; Munjal T; Honda K; King KA; Zalewski CK; Chien WW; Brewer CC; Griffith AJ
    BMC Med Genet; 2019 Jul; 20(1):118. PubMed ID: 31266487
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel approach to describe a U1 snRNA binding site.
    Freund M; Asang C; Kammler S; Konermann C; Krummheuer J; Hipp M; Meyer I; Gierling W; Theiss S; Preuss T; Schindler D; Kjems J; Schaal H
    Nucleic Acids Res; 2003 Dec; 31(23):6963-75. PubMed ID: 14627829
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.