Oxidative DNA Damage, Inflammatory Signature, and Altered Erythrocytes Properties in Diamond-Blackfan Anemia. Kapralova K, Jahoda O, Koralkova P, Gursky J, Lanikova L, Pospisilova D, Divoky V, Horvathova M. Int J Mol Sci. 2020 Dec 17;21(24):9652. doi: 10.3390/ijms21249652. PMID: 33348919  

Special pre- and posttransplant considerations in inherited bone marrow failure and hematopoietic malignancy predisposition syndromes. Bonfim C. Hematology Am Soc Hematol Educ Program. 2020 Dec 4;2020(1):107-114. doi: 10.1182/hematology. 2020000095. PMID: 33275667 

Pediatric bone marrow failure: Clinical, hematological and targeted next generation sequencing data. Chhabra P, Bhatia P, Singh M, Bansal D, Jain R, Varma N, Trehan A. Blood Cells Mol Dis. 2021 Mar;87:102510. doi: 10.1016/j.bcmd.2020.102510. Epub 2020 Nov 5. PMID: 33197791

The Use of B-Cell Polysome Profiling to Validate Novel RPL5 (uL18) and RPL26 (uL24) Variants in Diamond-Blackfan Anemia. Ludlow A, George N, Glassford M, Udenberg K, Hannibal MC, Schwalm C, Scott K, Rothstein TL, Singh SA. J Pediatr Hematol Oncol. 2021 Apr 1;43(3):e336-e340. doi: 10.1097/MPH.0000000000001980. PMID: 33122585 

Allogeneic Hematopoietic Stem Cell Transplant Offer Good Outcomes in Pediatric Aplastic Anemia: Experience From Developing World. Sachdev M, Bansal M, Chakraborty S, Jain S, Bhargava R, Dua V. J Pediatr Hematol Oncol. 2020 Oct 28. doi: 10.1097/MPH.0000000000001981. Online ahead of print. PMID: 33122581 

Calmodulin inhibitors improve erythropoiesis in Diamond-Blackfan anemia. Taylor AM, Macari ER, Chan IT, Blair MC, Doulatov S, Vo LT, Raiser DM, Siva K, Basak A, Pirouz M, Shah AN, McGrath K, Humphries JM, Stillman E, Alter BP, Calo E, Gregory RI, Sankaran VG, Flygare J, Ebert BL, Zhou Y, Daley GQ, Zon LI. Sci Transl Med. 2020 Oct 21;12(566):eabb5831. doi: 10.1126/scitranslmed.abb5831.PMID: 33087503  

How Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies. Venturi G, Montanaro L. Cells. 2020 Oct 15;9(10):2300. doi: 10.3390/cells9102300. PMID: 33076379 Free PMC article. Review. 

Massive iron overload and acute-on-chronic liver failure in a patient with Diamond-Blackfan anaemia: a case report. Assis-Mendonça GR, Cunha-Silva M, Fernandes MF, Torres LD, de Almeida Verissimo MP, Okano MTN, Mazo DF, Lalli CA, Sevá-Pereira T, Stelini RF, da Costa LBE. BMC Gastroenterol. 2020 Oct 12;20(1):332. doi: 10.1186/s12876-020-01468-9. PMID: 33045993 Free PMC article. 

L-leucine improves anemia and growth in patients with transfusion-dependent Diamond-Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond-Blackfan Anemia Registry. Vlachos A, Atsidaftos E, Lababidi ML, Muir E, Rogers ZR, Alhushki W, Bernstein J, Glader B, Gruner B, Hartung H, Knoll C, Loew T, Nalepa G, Narla A, Panigrahi AR, Sieff CA, Walkovich K, Farrar JE, Lipton JM. Pediatr Blood Cancer. 2020 Dec;67(12):e28748. doi: 10.1002/pbc.28748. Epub 2020 Oct 6. PMID: 33025707 Clinical Trial. 

The Role of α1-Microglobulin (A1M) in Erythropoiesis and Erythrocyte Homeostasis-Therapeutic Opportunities in Hemolytic Conditions. Kristiansson A, Gram M, Flygare J, Hansson SR, Åkerström B, Storry JR. Int J Mol Sci. 2020 Sep 30;21(19):7234. doi: 10.3390/ijms21197234. PMID: 33008134 Free PMC article. Review. 

Real-World Experience Measurement of Liver Iron Concentration by R2 vs. R2 Star MRI in Hemoglobinopathies. Abou Zahr R, Burkhardt BEU, Ehsan L, Potersnak A, Greil G, Dillenbeck J, Rogers Z, Hussain T. Diagnostics (Basel). 2020 Sep 29;10(10):768. doi: 10.3390/diagnostics10100768. PMID: 33003498 Free PMC article.

A Review of Diamond-Blackfan Anemia: Current Evidence on Involved Genes and Treatment Modalities. Tyagi A, Gupta A, Dutta A, Potluri P, Batti B. Cureus. 2020 Aug 25;12(8):e10019. doi: 10.7759/cureus.10019. PMID: 32983714 Free PMC article. Review. 

Reduced-intensity conditioning is effective for hematopoietic stem cell transplantation in young pediatric patients with Diamond-Blackfan anemia. Koyamaishi S, Kamio T, Kobayashi A, Sato T, Kudo K, Sasaki S, Kanezaki R, Hasegawa D, Muramatsu H, Takahashi Y, Sasahara Y, Hiramatsu H, Kakuda H, Tanaka M, Ishimura M, Nishi M, Ishiguro A, Yabe H, Sarashina T, Yamamoto M, Yuza Y, Hyakuna N, Yoshida K, Kanno H, Ohga S, Ohara A, Kojima S, Miyano S, Ogawa S, Toki T, Terui K, Ito E. Bone Marrow Transplant. 2021 May;56(5):1013-1020. doi: 10.1038/s41409-020-01056-1. Epub 2020 Sep 18. PMID: 32948829 

Ribosomopathies: New Therapeutic Perspectives. Orgebin E, Lamoureux F, Isidor B, Charrier C, Ory B, Lézot F, Baud’huin M. Cells. 2020 Sep 11;9(9):2080. doi: 10.3390/cells9092080. PMID: 32932838 Free PMC article. Review.  

Dental considerations in a paediatric patient with Diamond-Blackfan anaemia. Azam I, Rahul M, Tewari N, Bansal K. BMJ Case Rep. 2020 Sep 14;13(9):e237992. doi: 10.1136/bcr-2020-237992. PMID: 32928813 

Metformin-induced suppression of Nemo-like kinase improves erythropoiesis in preclinical models of Diamond-Blackfan anemia through induction of miR-26a. Wilkes MC, Siva K, Varetti G, Mercado J, Wentworth EP, Perez CA, Saxena M, Kam S, Kapur S, Chen J, Narla A, Glader B, Lin S, Serrano M, Flygare J, Sakamoto KM. Exp Hematol. 2020 Nov;91:65-77. doi: 10.1016/j.exphem.2020.09.187. Epub 2020 Sep 12. PMID: 32926965  

Outcomes in pediatrics patients diagnosed with bone marrow failure disorders treated in a tertiary care center. Medina Valencia D, Estacio M, Clarete A, Timarán S, Manzi E, Beltrán-Gómez E, Franco AA. Rev Chil Pediatr. 2020 Aug;91(4):545-552. doi: 10.32641/rchped.vi91i4.1579. Epub 2020 Sep 11. PMID: 33399731 English, Spanish. 

Recommendations for Pregnancy in Rare Inherited Anemias. Taher AT, Iolascon A, Matar CF, Bou-Fakhredin R, de Franceschi L, Cappellini MD, Barcellini W, Russo R, Andolfo I, Tyan P, Gulbis B, Aydinok Y, Anagnou NP, Bencaiova GA, Tamary H, Martinez PA, Forni G, Vindigni R. Hemasphere. 2020 Aug 12;4(4):e446. doi: 10.1097/ HS9.0000000000000446. eCollection 2020 Aug. PMID: 32885142 

p53 activation during ribosome biogenesis regulates normal erythroid differentiation. Le Goff S, Boussaid I, Floquet C, Raimbault A, Hatin I, Andrieu-Soler C, Salma M, Leduc M, Gautier EF, Guyot B, d’Allard D, Montel-Lehry N, Ducamp S, Houvert A, Guillonneau F, Giraudier S, Cramer-Bordé E, Morlé F, Diaz JJ, Hermine O, Taylor N, Kinet S, Verdier F, Padua RA, Mohandas N, Gleizes PE, Soler E, Mayeux P, Fontenay M. Blood. 2021 Jan 7;137(1):89-102. doi: 10.1182/blood.2019003439. PMID: 32818241 

Over 60 Years of Experimental Hematology (without a License). Lodish HF. Exp Hematol. 2020 Sep;89:1-12. doi: 10.1016/j.exphem.2020.08.005. Epub 2020 Aug 13. PMID: 32798645 

Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia. Bhar S, Zhou F, Reineke LC, Morris DK, Khincha PP, Giri N, Mirabello L, Bergstrom K, Lemon LD, Williams CL, Toh Y, Elghetany MT, Lloyd RE, Alter BP, Savage SA, Bertuch AA. Hum Mutat. 2020 Nov;41(11):1918-1930. doi: 10.1002/humu.24092. Epub 2020 Aug 30. PMID: 32790018 

Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele. Akram T, Fatima A, Klar J, Hoeber J, Zakaria M, Tariq M, Baig SM, Schuster J, Dahl N. Int J Hematol. 2020 Dec;112(6):894-899. doi: 10.1007/s12185-020-02950-6. Epub 2020 Aug 9. PMID: 32772263 

Molecular Biology of Osteosarcoma. Czarnecka AM, Synoradzki K, Firlej W, Bartnik E, Sobczuk P, Fiedorowicz M, Grieb P, Rutkowski P. Cancers (Basel). 2020 Jul 31;12(8):2130. doi: 10.3390/cancers12082130. PMID: 32751922 Free PMC article. Review.

Diamond-Blackfan anemia with mutation in RPS19: A case report and an overview of published pieces of literature. Jahan D, Al Hasan MM, Haque M. J Pharm Bioallied Sci. 2020 Apr-Jun;12(2):163-170. doi: 10.4103/jpbs.JPBS_234_19. Epub 2020 Apr 10. PMID: 32742115  

Clonal hematopoiesis in the inherited bone marrow failure syndromes. Tsai FD, Lindsley RC. Blood. 2020 Oct 1;136(14):1615-1622. doi: 10.1182/blood.2019000990. PMID: 32736377  

DiamondBlackfan anemia. Da Costa L, Leblanc T, Mohandas N. Blood. 2020 Sep 10;136(11):1262-1273. doi: 10.1182/blood.2019000947. PMID: 32702755 Review. 

Introduction to a review series on inherited anemias. Cazzola M. Blood. 2020 Sep 10;136(11):1215-1216. doi: 10.1182/blood.2019004083. PMID: 32702753 No abstract available. 

Bone Marrow Failure. Moore CA, Krishnan K. 2020 Jul 13. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan–. PMID: 29083589   

Outcome of colorectal cancer in Diamond-Blackfan syndrome with a ribosomal protein S19 mutation. Kimura K, Shimazu K, Toki T, Misawa M, Fukuda K, Yoshida T, Taguchi D, Fukuda S, Iijima K, Takahashi N, Ito E, Nanjyo H, Shibata H. Clin J Gastroenterol. 2020 Dec;13(6):1173-1177. doi: 10.1007/s12328-020-01176-7. Epub 2020 Jul 8. PMID: 32643123 

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance. Schnappauf O, Zhou Q, Moura NS, Ombrello AK, Michael DG, Deuitch N, Barron K, Stone DL, Hoffmann P, Hershfield M, Applegate C, Bjornsson HT, Beck DB, Witmer PD, Sobreira N, Wohler E, Chiorini JA, Center TAG, Dalgard CL, Center NIS, Kastner DL, Aksentijevich I. J Clin Immunol. 2020 Aug;40(6):917-926. doi: 10.1007/s10875-020-00817-3. Epub 2020 Jul 8. PMID: 32638197  

Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes. Bezzerri V, Api M, Allegri M, Fabrizzi B, Corey SJ, Cipolli M. Int J Mol Sci. 2020 Jun 30;21(13):4672. doi: 10.3390/ijms21134672. PMID: 32630050  

Moxibustion with deferasirox results in safe, accelerated, and sustained cardiac iron chelation for a young Diamond Blackfan Anemia patient: An integrative case report. Marie EF. Explore (NY). 2021 May-Jun;17(3):239-246. doi:10.1016/ j.explore.2020.05.011.  Epub 2020 May 23. PMID: 32622815

Diamond Blackfan anemia is mediated by hyperactive Nemo-like kinase. Wilkes MC, Siva K, Chen J, Varetti G, Youn MY, Chae H, Ek F, Olsson R, Lundbäck T, Dever DP, Nishimura T, Narla A, Glader B, Nakauchi H, Porteus MH, Repellin CE, Gazda HT, Lin S, Serrano M, Flygare J, Sakamoto KM. Nat Commun. 2020 Jul 3;11(1):3344. doi: 10.1038/s41467-020-17100-z. PMID: 32620751  

Hereditary Predisposition to Hematopoietic Neoplasms: When Bloodline Matters for Blood Cancers. Mangaonkar AA, Patnaik MM. Mayo Clin Proc. 2020 Jul;95(7):1482-1498. doi: 10.1016/j.mayocp.2019.12.013. Epub 2020 Jun 19. PMID: 32571604  

Hematopoietic cell transplantation for Diamond Blackfan anemia: A report from the Pediatric Group of the Brazilian Bone Marrow Transplantation Society. Darrigo LG Junior, Loth G, Kuwahara C, Vieira A, Colturato V, Rodrigues AL, Arcuri L, Fernandes J, Macedo A, Tavares R, Gomes A, Ribeiro L, Seber A, Zecchin V, de Souza M, Calixto R, Pasquini R, Flowers M, Rocha V, Bonfim C. Eur J Haematol. 2020 Oct;105(4):426-433. doi: 10.1111/ejh.13463. Epub 2020 Jul 2. PMID: 32525237

Favorable outcomes of hematopoietic stem cell transplantation in children and adolescents with Diamond-Blackfan anemia. Strahm B, Loewecke F, Niemeyer CM, Albert M, Ansari M, Bader P, Bertrand Y, Burkhardt B, Da Costa LM, Ferster A, Fischer A, Güngör T, Gruhn B, Hainmann I, Kapp F, Lang P, Müller I, Schulz A, Szvetnik A, Wlodarski M, Noellke P, Leblanc T, Dalle JH. Blood Adv. 2020 Apr 28;4(8):1760-1769. doi: 10.1182/bloodadvances.2019001210. PMID: 32343795 

Protecting vulnerable patients with inherited anaemias from unnecessary death during the COVID-19 pandemic. Roy NBA, Telfer P, Eleftheriou P, de la Fuente J, Drasar E, Shah F, Roberts D, Atoyebi W, Trompeter S, Layton DM, Lugthart S, Stuart-Smith S, Chakravorty S, Wright J, Porter J, Inusa B, Howard J; National Haemoglobinopathy Panel. Br J Haematol. 2020 May;189(4):635-639. doi: 10.1111/bjh.16687. Epub 2020 May 10. PMID: 32330288 

Eltrombopag for patients with moderate aplastic anemia or uni-lineage cytopenias. Fan X, Desmond R, Winkler T, Young DJ, Dumitriu B, Townsley DM, Gutierrez-Rodrigues F, Lotter J, Valdez J, Sellers SE, Barranta ME, Shalhoub RN, Wu CO, Albitar M, Calvo KR, Young NS, Dunbar CE. Blood Adv. 2020 Apr 28;4(8):1700-1710. doi: 10.1182/bloodadvances.2020001657. PMID: 32330244  

Integrated analyses of translatome and proteome identify the rules of translation selectivity in RPS14-deficient cells. Boussaid I, Le Goff S, Floquet C, Gautier EF, Raimbault A, Viailly PJ, Al Dulaimi D, Burroni B, Dusanter-Fourt I, Hatin I, Mayeux P, Cosson B, Fontenay M. Haematologica. 2021 Mar 1;106(3):746-758. doi: 10.3324/haematol.2019.239970. PMID: 32327500 

Rpl5-Inducible Mouse Model for Studying Diamond-Blackfan Anemia. Kazerounian S, Yuan D, Alexander MS, Beggs AH, Gazda HT. Discoveries (Craiova). 2019 Sep 30;7(3):e96. doi: 10.15190/d.2019.9. PMID: 32309614  

Diamond-Blackfan anaemia: understanding an old disease. Kattamis A. Br J Haematol. 2020 Jul;190(1):14-15. doi: 10.1111/bjh.16546. Epub 2020 Mar 2. PMID: 32118286 No abstract available. 

Nucleolar Organization and Functions in Health and Disease. Stochaj U, Weber SC. Cells. 2020 Feb 25;9(3):526. doi: 10.3390/cells9030526. PMID: 32106410  

A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? Quarello P, Garelli E, Carando A, Cillario R, Brusco A, Giorgio E, Ferrante D, Corti P, Zecca M, Luciani M, Pierri F, Putti MC, Cantarini ME, Farruggia P, Barone A, Cesaro S, Russo G, Fagioli F, Dianzani I, Ramenghi U; AIEOP working group on Diamond Blackfan Anaemia. Br J Haematol. 2020 Jul;190(1):93-104. doi: 10.1111/bjh.16508. Epub 2020 Feb 21. PMID: 32080838  

The nuclear gene rpl18 regulates erythroid maturation via JAK2-STAT3 signaling in zebrafish model of Diamond-Blackfan anemia. Chen C, Lu M, Lin S, Qin W. Cell Death Dis. 2020 Feb 19;11(2):135. doi: 10.1038/s41419-020-2331-5. PMID: 32075953 

Improvement of native pulmonary alveolar proteinosis after contralateral single living-donor lobar lung transplantation: A case report. Kobayashi K, Ohkouchi S, Sasahara Y, Ebina M, Nakata K, Saito R, Akiba M, Sado T, Oishi H, Watanabe T, Kurosawa H, Okada Y. Pediatr Transplant. 2020 Mar;24(2):e13659. doi: 10.1111/petr.13659. Epub 2020 Jan 27. PMID: 31985141

Steroid resistance in Diamond Blackfan anemia associates with p57Kip2 dysregulation in erythroid progenitors. Ashley RJ, Yan H, Wang N, Hale J, Dulmovits BM, Papoin J, Olive ME, Udeshi ND, Carr SA, Vlachos A, Lipton JM, Da Costa L, Hillyer C, Kinet S, Taylor N, Mohandas N, Narla A, Blanc L. J Clin Invest. 2020 Apr 1;130(4):2097-2110. doi: 10.1172/JCI132284. PMID: 31961825 

Hypoxia influences polysome distribution of human ribosomal protein S12 and alternative splicing of ribosomal protein mRNAs. Brumwell A, Fell L, Obress L, Uniacke J. RNA. 2020 Mar;26(3):361-371. doi: 10.1261/rna.070318.119. Epub 2020 Jan 7. PMID: 31911497 

Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism. Lezzerini M, Penzo M, O’Donohue MF, Marques Dos Santos Vieira C, Saby M, Elfrink HL, Diets IJ, Hesse AM, Couté Y, Gastou M, Nin-Velez A, Nikkels PGJ, Olson AN, Zonneveld-Huijssoon E, Jongmans MCJ, Zhang G, van Weeghel M, Houtkooper RH, Wlodarski MW, Kuiper RP, Bierings MB, van der Werff Ten Bosch J, Leblanc T, Montanaro L, Dinman JD, Da Costa L, Gleizes PE, MacInnes AW. Nucleic Acids Res. 2020 Jan 24;48(2):770-787. doi: 10.1093/nar/gkz1042. PMID: 31799629