BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

200 related articles for article (PubMed ID: 29766597)

  • 1. A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.
    Aspesi A; Betti M; Sculco M; Actis C; Olgasi C; Wlodarski MW; Vlachos A; Lipton JM; Ramenghi U; Santoro C; Follenzi A; Ellis SR; Dianzani I
    Hum Mutat; 2018 Aug; 39(8):1102-1111. PubMed ID: 29766597
    [TBL] [Abstract][Full Text] [Related]  

  • 2. RPS19 mutations in patients with Diamond-Blackfan anemia.
    Campagnoli MF; Ramenghi U; Armiraglio M; Quarello P; Garelli E; Carando A; Avondo F; Pavesi E; Fribourg S; Gleizes PE; Loreni F; Dianzani I
    Hum Mutat; 2008 Jul; 29(7):911-20. PubMed ID: 18412286
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia.
    Chatr-Aryamontri A; Angelini M; Garelli E; Tchernia G; Ramenghi U; Dianzani I; Loreni F
    Hum Mutat; 2004 Dec; 24(6):526-33. PubMed ID: 15523650
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A new in-frame deletion in ribosomal protein S19 in a Chinese infant with Diamond-Blackfan anemia.
    Zhang JY; Jia M; Zhao HZ; Luo ZB; Xu WQ; Shen HP; Tang YM
    Blood Cells Mol Dis; 2016 Nov; 62():1-5. PubMed ID: 27732904
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia.
    Chae H; Park J; Lee S; Kim M; Kim Y; Lee JW; Chung NG; Cho B; Jeong DC; Kim J; Kim JR; Park G
    Exp Mol Med; 2014 Mar; 46(3):e88. PubMed ID: 24675553
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Defects of protein production in erythroid cells revealed in a zebrafish Diamond-Blackfan anemia model for mutation in RPS19.
    Zhang Y; Ear J; Yang Z; Morimoto K; Zhang B; Lin S
    Cell Death Dis; 2014 Jul; 5(7):e1352. PubMed ID: 25058426
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Lentiviral Vectors with Cellular Promoters Correct Anemia and Lethal Bone Marrow Failure in a Mouse Model for Diamond-Blackfan Anemia.
    Debnath S; Jaako P; Siva K; Rothe M; Chen J; Dahl M; Gaspar HB; Flygare J; Schambach A; Karlsson S
    Mol Ther; 2017 Aug; 25(8):1805-1814. PubMed ID: 28434866
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 5'UTR variants of ribosomal protein S19 transcript determine translational efficiency: implications for Diamond-Blackfan anemia and tissue variability.
    Badhai J; Schuster J; Gidlöf O; Dahl N
    PLoS One; 2011 Mar; 6(3):e17672. PubMed ID: 21412415
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.
    Angelini M; Cannata S; Mercaldo V; Gibello L; Santoro C; Dianzani I; Loreni F
    Hum Mol Genet; 2007 Jul; 16(14):1720-7. PubMed ID: 17517689
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions.
    Volejnikova J; Vojta P; Urbankova H; Mojzíkova R; Horvathova M; Hochova I; Cermak J; Blatny J; Sukova M; Bubanska E; Feketeova J; Prochazkova D; Horakova J; Hajduch M; Pospisilova D
    Blood Cells Mol Dis; 2020 Mar; 81():102380. PubMed ID: 31855845
    [TBL] [Abstract][Full Text] [Related]  

  • 11. RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.
    Gazda HT; Zhong R; Long L; Niewiadomska E; Lipton JM; Ploszynska A; Zaucha JM; Vlachos A; Atsidaftos E; Viskochil DH; Niemeyer CM; Meerpohl JJ; Rokicka-Milewska R; Pospisilova D; Wiktor-Jedrzejczak W; Nathan DG; Beggs AH; Sieff CA
    Br J Haematol; 2004 Oct; 127(1):105-13. PubMed ID: 15384984
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.
    Errichiello E; Vetro A; Mina T; Wischmeijer A; Berrino E; Carella M; Romagnoli M; Sacchini P; Venesio T; Zecca M; Zuffardi O
    Blood Cells Mol Dis; 2017 May; 64():38-44. PubMed ID: 28376382
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.
    Konno Y; Toki T; Tandai S; Xu G; Wang R; Terui K; Ohga S; Hara T; Hama A; Kojima S; Hasegawa D; Kosaka Y; Yanagisawa R; Koike K; Kanai R; Imai T; Hongo T; Park MJ; Sugita K; Ito E
    Haematologica; 2010 Aug; 95(8):1293-9. PubMed ID: 20378560
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production.
    Idol RA; Robledo S; Du HY; Crimmins DL; Wilson DB; Ladenson JH; Bessler M; Mason PJ
    Blood Cells Mol Dis; 2007; 39(1):35-43. PubMed ID: 17376718
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.
    Quarello P; Garelli E; Carando A; Brusco A; Calabrese R; Dufour C; Longoni D; Misuraca A; Vinti L; Aspesi A; Biondini L; Loreni F; Dianzani I; Ramenghi U
    Haematologica; 2010 Feb; 95(2):206-13. PubMed ID: 19773262
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia.
    Crétien A; Hurtaud C; Moniz H; Proust A; Marie I; Wagner-Ballon O; Choesmel V; Gleizes PE; Leblanc T; Delaunay J; Tchernia G; Mohandas N; Da Costa L
    Haematologica; 2008 Nov; 93(11):1627-34. PubMed ID: 18768533
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.
    Arbiv OA; Cuvelier G; Klaassen RJ; Fernandez CV; Robitaille N; Steele M; Breakey V; Abish S; Wu J; Sinha R; Silva M; Goodyear L; Jardine L; Lipton JH; Corriveau-Bourque C; Brossard J; Michon B; Ghemlas I; Waespe N; Zlateska B; Sung L; Cada M; Dror Y
    Clin Genet; 2018 Feb; 93(2):320-328. PubMed ID: 29044489
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype.
    Lebaron S; O'Donohue MF; Smith SC; Engleman KL; Juusola J; Safina NP; Thiffault I; Saunders CJ; Gleizes PE
    Hum Mutat; 2022 Mar; 43(3):389-402. PubMed ID: 34961992
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia.
    Devlin EE; Dacosta L; Mohandas N; Elliott G; Bodine DM
    Blood; 2010 Oct; 116(15):2826-35. PubMed ID: 20606162
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Proliferation deficiency of multipotent hematopoietic progenitors in ribosomal protein S19 (RPS19)-deficient diamond-Blackfan anemia improves following RPS19 gene transfer.
    Hamaguchi I; Flygare J; Nishiura H; Brun AC; Ooka A; Kiefer T; Ma Z; Dahl N; Richter J; Karlsson S
    Mol Ther; 2003 May; 7(5 Pt 1):613-22. PubMed ID: 12718904
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.