Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 162

1.

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. Epub 2006 Nov 2.

2.

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 1;17(9):1253-63. doi: 10.1093/hmg/ddn015. Epub 2008 Jan 29.

PMID:
18230666
3.

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 Jr, 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 1;112(5):1582-92. doi: 10.1182/blood-2008-02-140012. Epub 2008 Jun 5.

4.

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.

PMID:
17647292
5.

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 1;109(3):1275-83. Epub 2006 Oct 19.

6.

Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis.

Rey MA, Duffy SP, Brown JK, Kennedy JA, Dick JE, Dror Y, Tailor CS.

Haematologica. 2008 Nov;93(11):1617-26. doi: 10.3324/haematol.13359. Epub 2008 Sep 24.

7.

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. doi: 10.3324/haematol.13023. Epub 2008 Sep 2.

8.

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 1;109(3):980-6. Epub 2006 Sep 21.

9.

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. doi: 10.1016/j.tracli.2010.06.001. Epub 2010 Jul 23.

10.

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 24;5:e1352. doi: 10.1038/cddis.2014.318.

11.

A novel mutation of ribosomal protein S10 gene in a Japanese patient with diamond-Blackfan anemia.

Yazaki M, Kamei M, Ito Y, Konno Y, Wang R, Toki T, Ito E.

J Pediatr Hematol Oncol. 2012 May;34(4):293-5. doi: 10.1097/MPH.0b013e31824a20ab.

PMID:
22510774
12.

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. doi: 10.1002/humu.20752. Review.

PMID:
18412286
13.

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 15;16(14):1720-7. Epub 2007 May 20.

PMID:
17517689
14.

[Molecular mechanisms underlying the pathology of Diamond-Blackfan anemia].

Toki T, Ito E.

Rinsho Ketsueki. 2015 Jul;56(7):867-76. doi: 10.11406/rinketsu.56.867. Japanese.

PMID:
26251151
15.

Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia.

Cmejla R, Cmejlova J, Handrkova H, Petrak J, Petrtylova K, Mihal V, Stary J, Cerna Z, Jabali Y, Pospisilova D.

Hum Mutat. 2009 Mar;30(3):321-7. doi: 10.1002/humu.20874.

PMID:
19191325
16.

Reduced gene expression of clustered ribosomal proteins in Diamond-Blackfan anemia patients without RPS19 gene mutations.

Koga Y, Ohga S, Nomura A, Takada H, Hara T.

J Pediatr Hematol Oncol. 2006 Jun;28(6):355-61.

PMID:
16794503
17.

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 28;46:e88. doi: 10.1038/emm.2013.159.

18.

Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia.

Gazda HT, Kho AT, Sanoudou D, Zaucha JM, Kohane IS, Sieff CA, Beggs AH.

Stem Cells. 2006 Sep;24(9):2034-44. Epub 2006 Jun 1.

19.

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. doi: 10.3324/haematol.2009.011783. Epub 2009 Sep 22.

20.

Critical Diamond-Blackfan anemia due to ribosomal protein S19 missense mutation.

Ozono S, Mitsuo M, Noguchi M, Nakagawa S, Ueda K, Inada H, Ohga S, Ito E.

Pediatr Int. 2016 Sep;58(9):930-3. doi: 10.1111/ped.13018. Epub 2016 Sep 6.

PMID:
27601194

Supplemental Content

Support Center