413 related articles for article (PubMed ID: 20116044)
21. 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]
22. 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]
23. [Diagnostic targets and exosome sequence analysis of Diamond-Blackfan anemia in Japan].
Toki T; Ito E
Rinsho Ketsueki; 2018; 59(7):945-952. PubMed ID: 30078807
[TBL] [Abstract][Full Text] [Related]
24. Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia.
Delaporta P; Sofocleous C; Stiakaki E; Polychronopoulou S; Economou M; Kossiva L; Kostaridou S; Kattamis A
Pediatr Blood Cancer; 2014 Dec; 61(12):2249-55. PubMed ID: 25132370
[TBL] [Abstract][Full Text] [Related]
25. Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient.
Shi X; Huang X; Zhang Y; Cui X
BMC Med Genet; 2019 Jul; 20(1):120. PubMed ID: 31277601
[TBL] [Abstract][Full Text] [Related]
26. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.
Gazda HT; Grabowska A; Merida-Long LB; Latawiec E; Schneider HE; Lipton JM; Vlachos A; Atsidaftos E; Ball SE; Orfali KA; Niewiadomska E; Da Costa L; Tchernia G; Niemeyer C; Meerpohl JJ; Stahl J; Schratt G; Glader B; Backer K; Wong C; Nathan DG; Beggs AH; Sieff CA
Am J Hum Genet; 2006 Dec; 79(6):1110-8. PubMed ID: 17186470
[TBL] [Abstract][Full Text] [Related]
27. Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder.
Choesmel V; Fribourg S; Aguissa-Touré AH; Pinaud N; Legrand P; Gazda HT; Gleizes PE
Hum Mol Genet; 2008 May; 17(9):1253-63. PubMed ID: 18230666
[TBL] [Abstract][Full Text] [Related]
28. Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia.
Badhai J; Fröjmark AS; J Davey E; Schuster J; Dahl N
Biochim Biophys Acta; 2009 Oct; 1792(10):1036-42. PubMed ID: 19689926
[TBL] [Abstract][Full Text] [Related]
29. The role of human ribosomal proteins in the maturation of rRNA and ribosome production.
Robledo S; Idol RA; Crimmins DL; Ladenson JH; Mason PJ; Bessler M
RNA; 2008 Sep; 14(9):1918-29. PubMed ID: 18697920
[TBL] [Abstract][Full Text] [Related]
30. Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.
Avondo F; Roncaglia P; Crescenzio N; Krmac H; Garelli E; Armiraglio M; Castagnoli C; Campagnoli MF; Ramenghi U; Gustincich S; Santoro C; Dianzani I
BMC Genomics; 2009 Sep; 10():442. PubMed ID: 19765279
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. 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]
33. Impaired ribosome biogenesis in Diamond-Blackfan anemia.
Choesmel V; Bacqueville D; Rouquette J; Noaillac-Depeyre J; Fribourg S; Crétien A; Leblanc T; Tchernia G; Da Costa L; Gleizes PE
Blood; 2007 Feb; 109(3):1275-83. PubMed ID: 17053056
[TBL] [Abstract][Full Text] [Related]
34. Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.
Gazda HT; Preti M; Sheen MR; O'Donohue MF; Vlachos A; Davies SM; Kattamis A; Doherty L; Landowski M; Buros C; Ghazvinian R; Sieff CA; Newburger PE; Niewiadomska E; Matysiak M; Glader B; Atsidaftos E; Lipton JM; Gleizes PE; Beggs AH
Hum Mutat; 2012 Jul; 33(7):1037-44. PubMed ID: 22431104
[TBL] [Abstract][Full Text] [Related]
35. Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.
Mirabello L; Macari ER; Jessop L; Ellis SR; Myers T; Giri N; Taylor AM; McGrath KE; Humphries JM; Ballew BJ; Yeager M; Boland JF; He J; Hicks BD; Burdett L; Alter BP; Zon L; Savage SA
Blood; 2014 Jul; 124(1):24-32. PubMed ID: 24829207
[TBL] [Abstract][Full Text] [Related]
36. Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia.
Cmejla R; Cmejlova J; Handrkova H; Petrak J; Pospisilova D
Hum Mutat; 2007 Dec; 28(12):1178-82. PubMed ID: 17647292
[TBL] [Abstract][Full Text] [Related]
37. Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
Gripp KW; Curry C; Olney AH; Sandoval C; Fisher J; Chong JX; ; Pilchman L; Sahraoui R; Stabley DL; Sol-Church K
Am J Med Genet A; 2014 Sep; 164A(9):2240-9. PubMed ID: 24942156
[TBL] [Abstract][Full Text] [Related]
38. The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
Boria I; Garelli E; Gazda HT; Aspesi A; Quarello P; Pavesi E; Ferrante D; Meerpohl JJ; Kartal M; Da Costa L; Proust A; Leblanc T; Simansour M; Dahl N; Fröjmark AS; Pospisilova D; Cmejla R; Beggs AH; Sheen MR; Landowski M; Buros CM; Clinton CM; Dobson LJ; Vlachos A; Atsidaftos E; Lipton JM; Ellis SR; Ramenghi U; Dianzani I
Hum Mutat; 2010 Dec; 31(12):1269-79. PubMed ID: 20960466
[TBL] [Abstract][Full Text] [Related]
39. Ribosomal protein gene deletions in Diamond-Blackfan anemia.
Farrar JE; Vlachos A; Atsidaftos E; Carlson-Donohoe H; Markello TC; Arceci RJ; Ellis SR; Lipton JM; Bodine DM
Blood; 2011 Dec; 118(26):6943-51. PubMed ID: 22045982
[TBL] [Abstract][Full Text] [Related]
40. Diamond-Blackfan anemia, ribosome and erythropoiesis.
Da Costa L; Moniz H; Simansour M; Tchernia G; Mohandas N; Leblanc T
Transfus Clin Biol; 2010 Sep; 17(3):112-9. PubMed ID: 20655265
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]