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Items: 1 to 20 of 110

1.

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

Sankaran VG, Ghazvinian R, Do R, Thiru P, Vergilio JA, Beggs AH, Sieff CA, Orkin SH, Nathan DG, Lander ES, Gazda HT.

J Clin Invest. 2012 Jul;122(7):2439-43. doi: 10.1172/JCI63597. Epub 2012 Jun 18.

2.

Altered translation of GATA1 in Diamond-Blackfan anemia.

Ludwig LS, Gazda HT, Eng JC, Eichhorn SW, Thiru P, Ghazvinian R, George TI, Gotlib JR, Beggs AH, Sieff CA, Lodish HF, Lander ES, Sankaran VG.

Nat Med. 2014 Jul;20(7):748-53. doi: 10.1038/nm.3557. Epub 2014 Jun 22.

3.

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
4.

What's in a name?

Weiss MJ, Mason PJ, Bessler M.

J Clin Invest. 2012 Jul;122(7):2346-9. doi: 10.1172/JCI63989. Epub 2012 Jun 18.

5.

Molecular convergence in ex vivo models of Diamond-Blackfan anemia.

O'Brien KA, Farrar JE, Vlachos A, Anderson SM, Tsujiura CA, Lichtenberg J, Blanc L, Atsidaftos E, Elkahloun A, An X, Ellis SR, Lipton JM, Bodine DM.

Blood. 2017 Jun 8;129(23):3111-3120. doi: 10.1182/blood-2017-01-760462. Epub 2017 Apr 4.

6.

Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.

Parrella S, Aspesi A, Quarello P, Garelli E, Pavesi E, Carando A, Nardi M, Ellis SR, Ramenghi U, Dianzani I.

Pediatr Blood Cancer. 2014 Jul;61(7):1319-21. doi: 10.1002/pbc.24944. Epub 2014 Jan 22.

7.

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.

8.

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; UW Center for Mendelian Genomics, Pilchman L, Sahraoui R, Stabley DL, Sol-Church K.

Am J Med Genet A. 2014 Sep;164A(9):2240-9. doi: 10.1002/ajmg.a.36633. Epub 2014 Jun 18.

9.

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.

Mirabello L, Macari ER, Jessop L, Ellis SR, Myers T, Giri N, Taylor AM, McGrath KE, Humphries JM, Ballew BJ, Yeager M, Boland JF, He J, Hicks BD, Burdett L, Alter BP, Zon L, Savage SA.

Blood. 2014 Jul 3;124(1):24-32. doi: 10.1182/blood-2013-11-540278. Epub 2014 May 14.

10.

Recurrent GATA1 mutations in Diamond-Blackfan anaemia.

Klar J, Khalfallah A, Arzoo PS, Gazda HT, Dahl N.

Br J Haematol. 2014 Sep;166(6):949-51. doi: 10.1111/bjh.12919. Epub 2014 Apr 28. No abstract available.

PMID:
24766296
11.

Lost in translation: RP and GATA1 mutations in DBA.

Sakamoto KM.

Blood. 2017 Jun 8;129(23):3048-3049. doi: 10.1182/blood-2017-04-778969. No abstract available.

PMID:
28596438
12.

[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
13.

Toward RNA Repair of Diamond Blackfan Anemia Hematopoietic Stem Cells.

D'Allard DL, Liu JM.

Hum Gene Ther. 2016 Oct;27(10):792-801. doi: 10.1089/hum.2016.081. Review.

PMID:
27550323
14.

Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders.

Wakabayashi A, Ulirsch JC, Ludwig LS, Fiorini C, Yasuda M, Choudhuri A, McDonel P, Zon LI, Sankaran VG.

Proc Natl Acad Sci U S A. 2016 Apr 19;113(16):4434-9. doi: 10.1073/pnas.1521754113. Epub 2016 Apr 4.

15.

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.

16.

Reduced translation of GATA1 in Diamond-Blackfan anemia.

Boultwood J, Pellagatti A.

Nat Med. 2014 Jul;20(7):703-4. doi: 10.1038/nm.3630. No abstract available.

PMID:
24999938
17.

GATA factor mutations in hematologic disease.

Crispino JD, Horwitz MS.

Blood. 2017 Apr 13;129(15):2103-2110. doi: 10.1182/blood-2016-09-687889. Epub 2017 Feb 8. Review.

PMID:
28179280
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.

Assessment of hematopoietic failure due to Rpl11 deficiency in a zebrafish model of Diamond-Blackfan anemia by deep sequencing.

Zhang Z, Jia H, Zhang Q, Wan Y, Zhou Y, Jia Q, Zhang W, Yuan W, Cheng T, Zhu X, Fang X.

BMC Genomics. 2013 Dec 17;14:896. doi: 10.1186/1471-2164-14-896.

20.

Diamond Blackfan anemia: a Cheshire cat of hematology.

Farrar JE.

Pediatr Blood Cancer. 2014 Jul;61(7):1154-5. doi: 10.1002/pbc.25014. Epub 2014 Mar 14. No abstract available.

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