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Items: 1 to 20 of 211

1.

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.

2.

[Analysis of mutations of ribosomal protein genes in 21 cases of Diamond-Blackfan anemia].

Chen YM, Ruan M, Zou Y, Guo Y, Wang SC, Chen XJ, Zhang L, Liu TF, Zhu XF.

Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2012 Dec;20(6):1414-8. Chinese.

PMID:
23257444
3.

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
4.

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
5.

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

Doherty L, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Clinton C, Schneider HE, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Glader B, Arceci RJ, Farrar JE, Atsidaftos E, Lipton JM, Gleizes PE, Gazda HT.

Am J Hum Genet. 2010 Feb 12;86(2):222-8. doi: 10.1016/j.ajhg.2009.12.015. Epub 2010 Jan 28. Erratum in: Am J Hum Genet. 2010 Apr 9;86(4):655.

6.

Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia.

Kuramitsu M, Sato-Otsubo A, Morio T, Takagi M, Toki T, Terui K, Wang R, Kanno H, Ohga S, Ohara A, Kojima S, Kitoh T, Goi K, Kudo K, Matsubayashi T, Mizue N, Ozeki M, Masumi A, Momose H, Takizawa K, Mizukami T, Yamaguchi K, Ogawa S, Ito E, Hamaguchi I.

Blood. 2012 Mar 8;119(10):2376-84. doi: 10.1182/blood-2011-07-368662. Epub 2012 Jan 18.

7.

[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
8.

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. doi: 10.1111/bjh.13229. Epub 2014 Nov 25.

PMID:
25424902
9.

Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.

Smetanina NS, Mersiyanova IV, Kurnikova MA, Ovsyannikova GS, Hachatryan LA, Bobrynina VO, Maschan MA, Novichkova GA, Lipton JM, Maschan AA.

Pediatr Blood Cancer. 2015 Sep;62(9):1597-600. doi: 10.1002/pbc.25534. Epub 2015 May 6.

10.

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.

Landowski M, O'Donohue MF, Buros C, Ghazvinian R, Montel-Lehry N, Vlachos A, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Beggs AH, Gleizes PE, Gazda HT.

Hum Genet. 2013 Nov;132(11):1265-74. doi: 10.1007/s00439-013-1326-z. Epub 2013 Jun 30.

11.

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. doi: 10.1002/pbc.25183. Epub 2014 Aug 17.

PMID:
25132370
12.

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.

13.

Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.

Farrar JE, Dahl N.

Semin Hematol. 2011 Apr;48(2):124-35. doi: 10.1053/j.seminhematol.2011.02.003. Review.

14.

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 22;118(26):6943-51. doi: 10.1182/blood-2011-08-375170. Epub 2011 Nov 1.

15.

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.

16.

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.

17.

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.

Gazda HT, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Schneider H, Darras N, Hasman C, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Zaucha JM, Glader B, Niemeyer C, Meerpohl JJ, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH.

Am J Hum Genet. 2008 Dec;83(6):769-80. doi: 10.1016/j.ajhg.2008.11.004.

18.

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
19.

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.

20.

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.

PMID:
15384984

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