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Items: 1 to 20 of 106

1.

Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes.

Watkins-Chow DE, Cooke J, Pidsley R, Edwards A, Slotkin R, Leeds KE, Mullen R, Baxter LL, Campbell TG, Salzer MC, Biondini L, Gibney G, Phan Dinh Tuy F, Chelly J, Morris HD, Riegler J, Lythgoe MF, Arkell RM, Loreni F, Flint J, Pavan WJ, Keays DA.

PLoS Genet. 2013;9(1):e1003094. doi: 10.1371/journal.pgen.1003094. Epub 2013 Jan 31. Erratum in: PLoS Genet. 2015 Nov;11(11):e1005682.

2.

Diamond Blackfan anemia: A paradigm for a ribosome-based disease.

Ellis SR, Massey AT.

Med Hypotheses. 2006;66(3):643-8. Epub 2005 Oct 18.

PMID:
16239073
3.

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.

4.

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
5.

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.

6.

Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome.

Moore JB 4th, Farrar JE, Arceci RJ, Liu JM, Ellis SR.

Haematologica. 2010 Jan;95(1):57-64. doi: 10.3324/haematol.2009.012450. Epub 2009 Aug 27.

7.

[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
8.

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.

9.

Ribosomopathies: how a common root can cause a tree of pathologies.

Danilova N, Gazda HT.

Dis Model Mech. 2015 Sep;8(9):1013-26. doi: 10.1242/dmm.020529. Review.

10.

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. doi: 10.1016/j.biocel.2014.01.006. Epub 2014 Jan 11. Erratum in: Int J Biochem Cell Biol. 2014 Oct;55:350.

PMID:
24417973
11.

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.

PMID:
25946618
12.

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. doi: 10.1002/humu.21383.

13.

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.

14.

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
15.

[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
16.

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.

17.

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.

18.

Nucleolar stress in Diamond Blackfan anemia pathophysiology.

Ellis SR.

Biochim Biophys Acta. 2014 Jun;1842(6):765-8. doi: 10.1016/j.bbadis.2013.12.013. Epub 2014 Jan 8. Review.

19.

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.

20.

Diamond Blackfan anemia: ribosomal proteins going rogue.

Ellis SR, Gleizes PE.

Semin Hematol. 2011 Apr;48(2):89-96. doi: 10.1053/j.seminhematol.2011.02.005. Review.

PMID:
21435505
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