200 related articles for article (PubMed ID: 34961992)
1. 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]
2. Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome.
Moore JB; Farrar JE; Arceci RJ; Liu JM; Ellis SR
Haematologica; 2010 Jan; 95(1):57-64. PubMed ID: 19713223
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.
Mirabello L; Khincha PP; Ellis SR; Giri N; Brodie S; Chandrasekharappa SC; Donovan FX; Zhou W; Hicks BD; Boland JF; Yeager M; Jones K; Zhu B; Wang M; Alter BP; Savage SA
J Med Genet; 2017 Jun; 54(6):417-425. PubMed ID: 28280134
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia.
Farrar JE; Nater M; Caywood E; McDevitt MA; Kowalski J; Takemoto CM; Talbot CC; Meltzer P; Esposito D; Beggs AH; Schneider HE; Grabowska A; Ball SE; Niewiadomska E; Sieff CA; Vlachos A; Atsidaftos E; Ellis SR; Lipton JM; Gazda HT; Arceci RJ
Blood; 2008 Sep; 112(5):1582-92. PubMed ID: 18535205
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. [Diamond-Blackfan anemia reveals the dark side of ribosome biogenesis].
Aguissa-Touré AH; Da Costa L; Leblanc T; Tchernia G; Fribourg S; Gleizes PE
Med Sci (Paris); 2009 Jan; 25(1):69-76. PubMed ID: 19154697
[TBL] [Abstract][Full Text] [Related]
10. Molecular pathogenesis in Diamond-Blackfan anemia.
Ito E; Konno Y; Toki T; Terui K
Int J Hematol; 2010 Oct; 92(3):413-8. PubMed ID: 20882441
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia.
Bhar S; Zhou F; Reineke LC; Morris DK; Khincha PP; Giri N; Mirabello L; Bergstrom K; Lemon LD; Williams CL; Toh Y; Elghetany MT; Lloyd RE; Alter BP; Savage SA; Bertuch AA
Hum Mutat; 2020 Nov; 41(11):1918-1930. PubMed ID: 32790018
[TBL] [Abstract][Full Text] [Related]
13. Nucleolar stress in Diamond Blackfan anemia pathophysiology.
Ellis SR
Biochim Biophys Acta; 2014 Jun; 1842(6):765-8. PubMed ID: 24412987
[TBL] [Abstract][Full Text] [Related]
14. Mutations in RPS19 may affect ribosome function and biogenesis in Diamond Blackfan anemia.
Hiregange DG; Rivalta A; Yonath A; Zimmerman E; Bashan A; Yonath H
FEBS Open Bio; 2022 Jul; 12(7):1419-1434. PubMed ID: 35583751
[TBL] [Abstract][Full Text] [Related]
15. Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?
Da Costa L; Mohandas N; David-NGuyen L; Platon J; Marie I; O'Donohue MF; Leblanc T; Gleizes PE
Blood Cells Mol Dis; 2024 May; 106():102838. PubMed ID: 38413287
[TBL] [Abstract][Full Text] [Related]
16. The Genetic Landscape of Diamond-Blackfan Anemia.
Ulirsch JC; Verboon JM; Kazerounian S; Guo MH; Yuan D; Ludwig LS; Handsaker RE; Abdulhay NJ; Fiorini C; Genovese G; Lim ET; Cheng A; Cummings BB; Chao KR; Beggs AH; Genetti CA; Sieff CA; Newburger PE; Niewiadomska E; Matysiak M; Vlachos A; Lipton JM; Atsidaftos E; Glader B; Narla A; Gleizes PE; O'Donohue MF; Montel-Lehry N; Amor DJ; McCarroll SA; O'Donnell-Luria AH; Gupta N; Gabriel SB; MacArthur DG; Lander ES; Lek M; Da Costa L; Nathan DG; Korostelev AA; Do R; Sankaran VG; Gazda HT
Am J Hum Genet; 2018 Dec; 103(6):930-947. PubMed ID: 30503522
[TBL] [Abstract][Full Text] [Related]
17. The functions of RPS19 and their relationship to Diamond-Blackfan anemia: a review.
Morimoto K; Lin S; Sakamoto K
Mol Genet Metab; 2007 Apr; 90(4):358-62. PubMed ID: 17178250
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy.
Aspesi A; Monteleone V; Betti M; Actis C; Morleo G; Sculco M; Guarrera S; Wlodarski MW; Ramenghi U; Santoro C; Ellis SR; Loreni F; Follenzi A; Dianzani I
Sci Rep; 2017 Sep; 7(1):12010. PubMed ID: 28931864
[TBL] [Abstract][Full Text] [Related]
20. Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.
Carlston CM; Afify ZA; Palumbos JC; Bagley H; Barbagelata C; Wooderchak-Donahue WL; Mao R; Carey JC
Am J Med Genet A; 2017 Oct; 173(10):2622-2627. PubMed ID: 28742285
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
