Genetic Information-Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes. Hamilton JG, Hutson SP, Frohnmayer AE, Han PK, Peters JA, Carr AG, Alter BP. J Genet Couns. 2014 Dec 27. [Epub ahead of print] PMID: 25540896

Ribosomopathies: mechanisms of disease. Nakhoul H, Ke J, Zhou X, Liao W, Zeng SX, Lu H. Clin Med Insights Blood Disord. 2014 Aug 14;7:7-16. doi: 10.4137/CMBD.S16952. eCollection 2014. Review. PMID: 25512719

Ribosomal stress activates eEF2K-eEF2 pathway causing translation elongation inhibition and recruitment of terminal oligopyrimidine (TOP) mRNAs on polysomes. Gismondi A, Caldarola S, Lisi G, Juli G, Chellini L, Iadevaia V, Proud CG, Loreni F. Nucleic Acids Res. 2014 Nov 10;42(20):12668-80. doi: 10.1093/nar/gku996. Epub 2014 Oct 20. PMID: 25332393

Telomere length in inherited bone marrow failure syndromes. Alter BP, Giri N, Savage SA, Rosenberg PS. Haematologica. 2015 Jan;100(1):49-54. doi: 10.3324/haematol.2014.114389. Epub 2014 Oct 10. PMID: 2530461

TNF-mediated inflammation represses GATA1 and activates p38 MAP kinase in RPS19-deficient hematopoietic progenitors. Bibikova E, Youn MY, Danilova N, Ono-Uruga Y, Konto-Ghiorghi Y, Ochoa R, Narla A, Glader B, Lin S, Sakamoto KM. Blood. 2014 Dec 11;124(25):3791-8. doi: 10.1182/blood-2014-06-584656. Epub 2014 Sep 30. PMID: 25270909

Mapping iron in human heart tissue with synchrotron x-ray fluorescence microscopy and cardiovascular magnetic resonance. House MJ, Fleming AJ, de Jonge MD, Paterson D, Howard DL, Carpenter JP, Pennell DJ, St Pierre TG. J Cardiovasc Magn Reson. 2014 Sep 27;16:80. doi: 10.1186/s12968-014-0080-2. PMID: 25270330

Meeting the emerging public health needs of persons with blood disorders. Parker CS, Tsai J, Siddiqi AE, Atrash HK, Richardson LC. Am J Prev Med. 2014 Nov;47(5):658-63. doi: 10.1016/j.amepre. 2014.07.008. Epub 2014 Sep 19. PMID: 25245797

Marrow failure: a window into ribosome biology. Ruggero D, Shimamura A. Blood. 2014 Oct 30;124(18):2784-92. doi: 10.1182/blood-2014-04-526301. Epub 2014 Sep 18. Review.  PMID: 25237201

RAP-011, an activin receptor ligand trap, increases hemoglobin concentration in hepcidin transgenic mice. Langdon JM, Barkataki S, Berger AE, Cheadle C, Xue QL, Sung V, Roy CN. Am J Hematol. 2015 Jan;90(1):8-14. doi: 10.1002/ajh.23856. Epub 2014 Oct 25. PMID: 25236856

Pancreatic iron and fat assessment by MRI-R2* in patients with iron overload diseases. Pfeifer CD, Schoennagel BP, Grosse R, Wang ZJ, Graessner J, Nielsen P, Adam G, Fischer R, Yamamura J. J Magn Reson Imaging. 2014 Sep 19. doi: 10.1002/jmri.24752. [Epub ahead of print] PMID: 25236606

Gene therapy cures the anemia and lethal bone marrow failure in a mouse model of RPS19-deficient Diamond-Blackfan anemia. Jaako P, Debnath S, Olsson K, Modlich U, Rothe M, Schambach A, Flygare J, Karlsson S. Haematologica. 2014 Dec;99(12):1792-8. doi: 10.3324/haematol.2014.111195. Epub 2014 Sep 12. PMID: 25216681

Current insights into inherited bone marrow failure syndromes. Chung NG, Kim M. Korean J Pediatr. 2014 Aug;57(8):337-44. doi: 10.3345/kjp.2014.57.8.337. Epub 2014 Aug 25. Review. PMID: 25210520

Mechanisms of plasma non-transferrin bound iron generation: insights from comparing transfused diamond blackfan anaemia with sickle cell and thalassaemia patients. Porter JB, Walter PB, Neumayr LD, Evans P, Bansal S, Garbowski M, Weyhmiller MG, Harmatz PR, Wood JC, Miller JL, Byrnes C, Weiss G, Seifert M, Grosse R, Grabowski D, Schmidt A, Fischer R, Nielsen P, Niemeyer C, Vichinsky E. Br J Haematol. 2014 Dec;167(5):692-6. doi: 10.1111/bjh.13081. Epub 2014 Sep 11. PMID: 25209728

Systematic transcriptome analysis of the zebrafish model of diamond-blackfan anemia induced by RPS24 deficiency. Song B, Zhang Q, Zhang Z, Wan Y, Jia Q, Wang X, Zhu X, Leung AY, Cheng T, Fang X, Yuan W, Jia H. BMC Genomics. 2014 Sep 4;15:759. doi: 10.1186/1471-2164-15-759. PMID: 25189322

A RanGTP-independent mechanism allows ribosomal protein nuclear import for ribosome assembly. Schütz S, Fischer U, Altvater M, Nerurkar P, Peña C, Gerber M, Chang Y, Caesar S, Schubert OT, Schlenstedt G, Panse VG. Elife. 2014 Aug 21;3:e03473. doi: 10.7554/eLife.03473. PMID: 25144938

Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients withDiamond 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

L-Leucine improves the anaemia in models of Diamond Blackfan anaemia and the 5q- syndrome in a TP53-independent way. Narla A, Payne EM, Abayasekara N, Hurst SN, Raiser DM, Look AT, Berliner N, Ebert BL, Khanna-Gupta A. Br J Haematol. 2014 Nov;167(4):524-8. doi: 10.1111/bjh.13069. Epub 2014 Aug 7. PMID: 25098371

Analysis of the interactome of ribosomal protein S19 mutants. Caterino M, Aspesi A, Pavesi E, Imperlini E, Pagnozzi D, Ingenito L, Santoro C, Dianzani I, Ruoppolo M.Proteomics. 2014 Oct;14(20):2286-96. doi: 10.1002/pmic.201300513. Epub 2014 Sep 18. PMID: 25069755

Successful haematopoietic stem cell transplantation in 44 children from healthy siblings conceived after preimplantation HLA matching. Kahraman S, Beyazyurek C, Yesilipek MA, Ozturk G, Ertem M, Anak S, Kansoy S, Aksoylar S, Kuşkonmaz B, Oniz H, Slavin S, Karakas Z, Tac HA, Gulum N, Ekmekci GC. Reprod Biomed Online. 2014 Sep;29(3):340-51. doi: 10.1016/j.rbmo.2014.05.010. Epub 2014 Jun 12. PMID: 25066893

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. PMID: 25058426

Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis. Farrar JE, Quarello P, Fisher R, O’Brien KA, Aspesi A, Parrella S, Henson AL, Seidel NE, Atsidaftos E, Prakash S, Bari S, Garelli E, Arceci RJ, Dianzani I, Ramenghi U, Vlachos A, Lipton JM, Bodine DM, Ellis SR. Am J Hematol. 2014 Oct;89(10):985-91. doi: 10.1002/ajh.23807. Epub 2014 Aug 4. PMID: 25042156

Pearson syndrome in a Diamond-Blackfan anemia cohort. Alter BP. Blood. 2014 Jul 17;124(3):312-3. doi: 10.1182/blood-2014-04-571687. PMID: 25035146

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

Nom1 mediates pancreas development by regulating ribosome biogenesis in zebrafish. Qin W, Chen Z, Zhang Y, Yan R, Yan G, Li S, Zhong H, Lin S. PLoS One. 2014 Jun 26;9(6):e100796. doi: 10.1371/journal.pone.0100796. eCollection 2014.PMID: 24967912

High-throughput transcriptome sequencing identifies candidate genetic modifiers of vulnerability to fetal alcohol spectrum disorders. Garic A, Berres ME, Smith SM. Alcohol Clin Exp Res. 2014 Jul;38(7):1874-82. doi: 10.1111/acer.12457. Epub 2014 Jun 24. PMID: 24962712

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. PMID: 24952648

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. PMID: 24942156

Inherited bone marrow failure syndromes in adolescents and young adults. Wilson DB, Link DC, Mason PJ, Bessler M. Ann Med. 2014 Sep;46(6):353-63. doi: 10.3109/07853890.2014.915579. Epub 2014 Jun 3. Review. PMID: 24888387

Ribosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway. Heijnen HF, van Wijk R, Pereboom TC, Goos YJ, Seinen CW, van Oirschot BA, van Dooren R, Gastou M, Giles RH, van Solinge W, Kuijpers TW, Gazda HT, Bierings MB, Da Costa L, MacInnes AW. PLoS Genet. 2014 May 29;10(5):e1004371. doi: 10.1371/journal.pgen.1004371. eCollection 2014. PMID: 24875531

Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia. Aspesi A, Pavesi E, Robotti E, Crescitelli R, Boria I, Avondo F, Moniz H, Da Costa L, Mohandas N, Roncaglia P, Ramenghi U, Ronchi A, Gustincich S, Merlin S, Marengo E, Ellis SR, Follenzi A, Santoro C, Dianzani I. Gene. 2014 Jul 25;545(2):282-9. doi: 10.1016/j.gene.2014.04.077. Epub 2014 May 15. PMID: 24835311

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. PMID: 24829207

The role of the DNA damage response in zebrafish and cellular models of Diamond Blackfan anemia. Danilova N, Bibikova E, Covey TM, Nathanson D, Dimitrova E, Konto Y, Lindgren A, Glader B, Radu CG, Sakamoto KM, Lin S. Dis Model Mech. 2014 Jul;7(7):895-905. doi: 10.1242/dmm.015495. Epub 2014 May 8. PMID: 24812435

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

Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia. Gagne KE, Ghazvinian R, Yuan D, Zon RL, Storm K, Mazur-Popinska M, Andolina L, Bubala H, Golebiowska S, Higman MA, Kalwak K, Kurre P, Matysiak M, Niewiadomska E, Pels S, Petruzzi MJ, Pobudejska-Pieniazek A, Szczepanski T, Fleming MD, Gazda HT, Agarwal S. Blood. 2014 Jul 17;124(3):437-40. doi: 10.1182/blood-2014-01-545830. Epub 2014 Apr 15. PMID: 24735966

Hepcidin levels in Diamond-Blackfan anemia reflect erythropoietic activity and transfusion dependency. Pospisilova D, Holub D, Zidova Z, Sulovska L, Houda J, Mihal V, Hadacova I, Radova L, Dzubak P, Hajduch M, Divoky V, Horvathova M. Haematologica. 2014 Jul;99(7):e118-21. doi: 10.3324/haematol.2014.104034. Epub 2014 Apr 11. No abstract available. PMID: 24727814

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. PMID:  24675553

Diamond Blackfan anemia: a model for the translational approach to understanding human disease. Vlachos A, Blanc L, Lipton JM. Expert Rev Hematol. 2014 Jun;7(3):359-72. doi: 10.1586/17474086.2014.897923. Epub 2014 Mar 26. Review. PMID: 24665981

Diamond-Blackfan anemia and nutritional deficiency-induced anemia in children. Gelbart D. JAAPA. 2014 Apr;27(4):36-44. doi: 10.1097/01.JAA.0000442702.95598.fc. Review. PMID: 24662257

Transient erythroblastopenia of childhood is an underdiagnosed and self-limiting disease. van den Akker M, Dror Y, Odame I. Acta Paediatr. 2014 Jul;103(7):e288-94. doi: 10.1111/apa.12634. Epub 2014 Apr 29. PMID: 24635829

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. PMID: 24634369

Haematopoietic stem cell transplantation for Diamond Blackfan anaemia: a report from the Italian Association of Paediatric Haematology and Oncology Registry. Fagioli F, Quarello P, Zecca M, Lanino E, Corti P, Favre C, Ripaldi M, Ramenghi U, Locatelli F, Prete A. Br J Haematol. 2014 Jun;165(5):673-81. doi: 10.1111/bjh.12787. Epub 2014 Feb 24. PMID: 24611452

A Case of Diamond Blackfan Anemia (DBA) with Mutation in Ribosomal Protein S19. Solomon J, Kamalammal R, Menezes GA, Sait MY, Lohith H, Ramalingam R. J Clin Diagn Res. 2014 Jan;8(1):179-80. doi: 10.7860/JCDR/2014/7018.3899. Epub 2014 Oct 23. PMID: 24596764

p53-Independent cell cycle and erythroid differentiation defects in murine embryonic stem cells haploinsufficient for Diamond Blackfan anemia-proteins: RPS19 versus RPL5. Singh SA, Goldberg TA, Henson AL, Husain-Krautter S, Nihrane A, Blanc L, Ellis SR, Lipton JM, Liu JM. PLoS One. 2014 Feb 18;9(2):e89098. doi: 10.1371/journal.pone.0089098. eCollection 2014. PMID: 24558476

The emerging roles of ribosome biogenesis in craniofacial development. Ross AP, Zarbalis KS. Front Physiol. 2014 Feb 4;5:26. doi: 10.3389/fphys.2014.00026. eCollection 2014. Review. PMID: 24550838

[Turner-like syndrome: a case report]. Velletri MR, Valenzise M, Wasniewska M, Arasi S, Santisi A, Romeo M, Pitrolo E, Santucci S, Corica D, Crisafulli R, Zirilli G. Pediatr Med Chir. 2013 Sep-Oct;35(5):228-30. Italian. PMID: 24516945

Translation of branched-chain aminotransferase-1 transcripts is impaired in cells haploinsufficient for ribosomal protein genes. Pereboom TC, Bondt A, Pallaki P, Klasson TD, Goos YJ, Essers PB, Groot Koerkamp MJ, Gazda HT, Holstege FC, Costa LD, MacInnes AW. Exp Hematol. 2014 May;42(5):394-403.e4. doi: 10.1016/j.exphem.2013.12.010. Epub 2014 Jan 23. PMID: 24463277

Dysferlin and other non-red cell proteins accumulate in the red cell membrane of diamond-blackfan anemia patients. Pesciotta EN, Sriswasdi S, Tang HY, Speicher DW, Mason PJ, Bessler M. PLoS One. 2014 Jan 14;9(1):e85504. doi: 10.1371/journal.pone.0085504. eCollection 2014 Jan 14. PMID: 24454878 [PubMed – in process]

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 Jan 22. doi: 10.1002/pbc.24944. [Epub ahead of print] PMID: 24453067 [PubMed – as supplied by publisher]

Ribosomal protein deficiency causes Tp53-independent erythropoiesis failure in zebrafish. Yadav GV, Chakraborty A, Uechi T, Kenmochi N. Int J Biochem Cell Biol. 2014 Jan 11. pii: S1357-2725(14)00015-6. doi: 10.1016/j.biocel.2014.01.006. [Epub ahead of print] PMID: 24417973 [PubMed – as supplied by publisher]

Nucleolar stress in Diamond Blackfan anemia pathophysiology. Ellis SR. Biochim Biophys Acta. 2014 Jan 8. pii: S0925-4439(14)00002-7. doi: 10.1016/j.bbadis.2013.12.013. [Epub ahead of print] PMID: 24412987 [PubMed – as supplied by publisher]

Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions. Burgess T, Brown NJ, Stark Z, Bruno DL, Oertel R, Chong B, Calabro V, Kornberg A, Sanderson C, Kelly J, Howell KB, Savarirayan R, Hinds R, Greenway A, Slater HR, White SM. Am J Med Genet A. 2014 Jan;164(1):77-86. doi: 10.1002/ajmg.a.36203. Epub 2013 Nov 21. PMID: 24352913 [PubMed – in process]

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. PMID: 24341334 [PubMed – in process]