202 related articles for article (PubMed ID: 34961992)
21. 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]
22. Diamond Blackfan anemia: A paradigm for a ribosome-based disease.
Ellis SR; Massey AT
Med Hypotheses; 2006; 66(3):643-8. PubMed ID: 16239073
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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]
25. 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]
26. Acquired ribosomopathies in leukemia and solid tumors.
Vlachos A
Hematology Am Soc Hematol Educ Program; 2017 Dec; 2017(1):716-719. PubMed ID: 29222326
[TBL] [Abstract][Full Text] [Related]
27. Ribosomopathies: how a common root can cause a tree of pathologies.
Danilova N; Gazda HT
Dis Model Mech; 2015 Sep; 8(9):1013-26. PubMed ID: 26398160
[TBL] [Abstract][Full Text] [Related]
28. Ribosomal protein deficiency causes Tp53-independent erythropoiesis failure in zebrafish.
Yadav GV; Chakraborty A; Uechi T; Kenmochi N
Int J Biochem Cell Biol; 2014 Apr; 49():1-7. PubMed ID: 24417973
[TBL] [Abstract][Full Text] [Related]
29. The landscape of pediatric Diamond-Blackfan anemia in Switzerland: genotype and phenotype characteristics.
Vogel N; Schmugge M; Renella R; Waespe N; Hengartner H;
Eur J Pediatr; 2021 Dec; 180(12):3581-3585. PubMed ID: 34110484
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.
Wang R; Yoshida K; Toki T; Sawada T; Uechi T; Okuno Y; Sato-Otsubo A; Kudo K; Kamimaki I; Kanezaki R; Shiraishi Y; Chiba K; Tanaka H; Terui K; Sato T; Iribe Y; Ohga S; Kuramitsu M; Hamaguchi I; Ohara A; Hara J; Goi K; Matsubara K; Koike K; Ishiguro A; Okamoto Y; Watanabe K; Kanno H; Kojima S; Miyano S; Kenmochi N; Ogawa S; Ito E
Br J Haematol; 2015 Mar; 168(6):854-64. PubMed ID: 25424902
[TBL] [Abstract][Full Text] [Related]
32. Utility of Whole Exome Sequencing in the Early Diagnosis of Atypical Diamond-Blackfan Anemia.
Al-Mulla A; Austin F; Helou M
J Pediatr Hematol Oncol; 2023 Apr; 45(3):159-161. PubMed ID: 36706306
[TBL] [Abstract][Full Text] [Related]
33. Diamond Blackfan anemia: ribosomal proteins going rogue.
Ellis SR; Gleizes PE
Semin Hematol; 2011 Apr; 48(2):89-96. PubMed ID: 21435505
[TBL] [Abstract][Full Text] [Related]
34. [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]
35. The Use of B-Cell Polysome Profiling to Validate Novel RPL5 (uL18) and RPL26 (uL24) Variants in Diamond-Blackfan Anemia.
Ludlow A; George N; Glassford M; Udenberg K; Hannibal MC; Schwalm C; Scott K; Rothstein TL; Singh SA
J Pediatr Hematol Oncol; 2021 Apr; 43(3):e336-e340. PubMed ID: 33122585
[TBL] [Abstract][Full Text] [Related]
36. Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients.
Garçon L; Ge J; Manjunath SH; Mills JA; Apicella M; Parikh S; Sullivan LM; Podsakoff GM; Gadue P; French DL; Mason PJ; Bessler M; Weiss MJ
Blood; 2013 Aug; 122(6):912-21. PubMed ID: 23744582
[TBL] [Abstract][Full Text] [Related]
37. Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits.
Flygare J; Aspesi A; Bailey JC; Miyake K; Caffrey JM; Karlsson S; Ellis SR
Blood; 2007 Feb; 109(3):980-6. PubMed ID: 16990592
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. 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]
40. Missense mutation in RPS7 causes Diamond-Blackfan anemia via alteration of erythrocyte metabolism, protein translation and induction of ribosomal stress.
Kubickova A; Maceckova Z; Vojta P; Ondra M; Volejnikova J; Koralkova P; Jungova A; Jahoda O; Mojzikova R; Hadacova I; Cermak J; Horvathova M; Pospisilova D; Hajduch M
Blood Cells Mol Dis; 2022 Nov; 97():102690. PubMed ID: 35871033
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]