Bone marrow transplantation without myeloablative conditioning in a mouse model for Diamond-Blackfan Anemia corrects the disease phenotype. Dahl M, Warsi S, Liu Y, Debnath S, Billing M, Siva K, Flygare J, Karlsson S. Exp Hematol. 2021 Jun 11:S0301-472X(21)00203-4. doi: 10.1016/j.exphem.2021.06.002. Online ahead of print. PMID: 34126174

The landscape of pediatric Diamond-Blackfan anemia in Switzerland: genotype and phenotype characteristics. Vogel N, Schmugge M, Renella R, Waespe N, Hengartner H; Swiss Paediatric Oncology Group (SPOG) Hematology Working Group. Eur J Pediatr. 2021 Jun 10. doi: 10.1007/s00431-021-04146-4. Online ahead of print. PMID: 34110484

Colorectal cancer screening and surveillance strategy for patients with Diamond Blackfan anemia: Preliminary recommendations from the Diamond Blackfan Anemia Registry. Lipton JM, Molmenti CLS, Hussain M, Desai P, Florento M, Atsidaftos E, Vlachos A. Pediatr Blood Cancer. 2021 Jun 5:e28984. doi: 10.1002/pbc.28984. Online ahead of print. PMID: 34089224

Computational Studies of the Structural Basis of Human RPS19 Mutations Associated With Diamond-Blackfan Anemia. An K, Zhou JB, Xiong Y, Han W, Wang T, Ye ZQ, Wu YD. Front Genet. 2021 May 24;12:650897. doi: 10.3389/fgene.2021.650897. eCollection 2021. PMID: 34108988 

Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A. Gianferante MD, Wlodarski MW, Atsidaftos E, Da Costa L, Delaporta P, Farrar JE, Goldman FD, Hussain M, Kattamis A, Leblanc T, Lipton JM, Niemeyer CM, Pospisilova D, Quarello P, Ramenghi U, Sankaran VG, Vlachos A, Volejnikova J, Alter BP, Savage SA, Giri N. Haematologica. 2021 May 1;106(5):1303-1310. doi: 10.3324/haematol.2020.246629. PMID: 32241839  

Diamond-Blackfan Anemia: 2 Cases With a Twist. Kossiva L, Markande A, Vagianou F, Delaporta P, Kattamis A. J Pediatr Hematol Oncol. 2021 May 1;43(4):e539-e542. doi: 10.1097/MPH.0000000000001767. PMID: 32118814

Zebrafish, an In Vivo Platform to Screen Drugs and Proteins for Biomedical Use. Lee HC, Lin CY, Tsai HJ. Pharmaceuticals (Basel). 2021 May 24;14(6):500. doi: 10.3390/ph14060500.PMID: 34073947  

Diamond-Blackfan Anemia: A Case Report and Review of the Literature. Dorn KM, Burns KD, Trout MAR, Ward DI, Wagner KJ, Meyer LR, Baack ML, Rodel RL.Neonatology. 2021 May 18:1-5. doi: 10.1159/000516030. Online ahead of print. PMID: 34004602

Diagnosing Diamond-Blackfan anaemia: ‘Vorsprung durch Technik’. Hills RK. Br J Haematol. 2021. PMID: 33997960 No abstract available. 

Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia. van Dooijeweert B, et al. Br J Haematol. 2021. PMID: 33997957

Unique Combination of Diamond-Blackfan Anemia and Lynch Syndrome in Adult Female: A Case Report. Tsukanov AS, Pikunov DY, Shubin VP, Barinov AA, Kashnikov VN, Shelygin YA, Kaprin AD, Filonenko EV, Sidorov DV, Maschan AA, Novichkova GA, Yasko LA, Raykina EV, Rumyantsev AG. Front Oncol. 2021 Apr 16;11:652696. doi: 10.3389/fonc.2021.652696. eCollection 2021. PMID: 33937060  

Shock in the Setting of Diamond-Blackfan Anemia Relapse. Haddaden M, Husami S, Alom M, Pang Y, Imam Z, Keena D. Case Rep Cardiol. 2021 Apr 6;2021:6623119. doi: 10.1155/2021/6623119. eCollection 2021. PMID: 33927902  

Whole exome sequencing of a breast tumor in a patient with Diamond Blackfan anemia. Narla A, Ruddy KJ, Ebert BL, Mar B. Blood Cells Mol Dis. 2021 Jul;89:102566. doi: 10.1016/j.bcmd.2021.102566. Epub 2021 Apr 1. PMID: 33862369 No abstract available. 

Correction: 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):1218-1219. doi: 10.1038/s41409-020-01076-x. PMID: 33057144 No abstract available.

Loss of coordinated expression between ribosomal and mitochondrial genes revealed by comprehensive characterization of a large family with a rare Mendelian disorder. Panici B, Nakajima H, Carlston CM, Ozadam H, Cenik C, Cenik ES. Genomics. 2021 Apr 20;113(4):1895-1905. doi: 10.1016/j.ygeno.2021.04.020. Online ahead of print. PMID: 33862179 

Pure Red Cell Aplasia. Mangla A, Hamad H. 2021 Apr 6. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan–.PMID: 31751023 

Eltrombopag Improves Erythroid Differentiation in a Human Induced Pluripotent Stem Cell Model of Diamond Blackfan Anemia. Qanash H, Li Y, Smith RH, Linask K, Young-Baird S, Hakami W, Keyvanfar K, Choy JS, Zou J, Larochelle A. Cells. 2021 Mar 26;10(4):734. doi: 10.3390/cells10040734. PMID: 33810313  

Stem Cell Transplantation for Diamond-Blackfan Anemia. A Retrospective Study on Behalf of the Severe Aplastic Anemia Working Party of the European Blood and Marrow Transplantation Group (EBMT). Miano M, Eikema DJ, de la Fuente J, Bosman P, Ghavamzadeh A, Smiers F, Sengeløv H, Yesilipek A, Formankova R, Bader P, Díaz Pérez MÁ, Bertrand Y, Niemeyer C, Diallo S, Ansari M, Bykova TA, Faraci M, Bonanomi S, Gozdzik J, Satti TM, Bodova I, Wölfl M, Rocha VG, Mellgren K, Rascon J, Holter W, Lange A, Meisel R, Beguin Y, Mozo Y, Kriván G, Sirvent A, Bruno B, Dalle JH, Onofrillo D, Giardino S, Risitano AM, de Latour RP, Dufour C. Transplant Cell Ther. 2021 Mar;27(3):274.e1-274.e5. doi: 10.1016/j.jtct.2020.12.024. Epub 2020 Dec 25. PMID: 33781541 

Diamond Blackfan Anemia. Gadhiya K, Budh DP. 2021 Mar 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan– PMID: 31424886   

Successful unrelated cord blood transplantation for DiamondBlackfan anemia. Watakabe M, Ishihara T, Ochi S, Shima M, Nogami K. Pediatr Int. 2021 Mar;63(3):356-358. doi: 10.1111/ped.14429. Epub 2021 Mar 11. PMID: 33704870 

Eukaryotic protein uS19: a component of the decoding site of ribosomes and a player in human diseases. Graifer D, Karpova G. Biochem J. 2021 Mar 12;478(5):997-1008. doi: 10.1042/BCJ20200950. PMID: 33661277

Methylated HNRNPK acts on RPS19 to regulate ALOX15 synthesis in erythropoiesis. Naarmann-de Vries IS, Senatore R, Moritz B, Marx G, Urlaub H, Niessing D, Ostareck DH, Ostareck-Lederer A. Nucleic Acids Res. 2021 Apr 6;49(6):3507-3523. doi: 10.1093/nar/gkab116. PMID: 33660773  

Single-cell analysis of erythropoiesis in Rpl11 haploinsufficient mice reveals insight into the pathogenesis of Diamond-Blackfan anemia. Doty RT, Yan X, Meng C, Lausted C, Tian Q, Abkowitz JL.Exp Hematol. 2021 May;97:66-78.e6.doi:10.1016/j.exphem.2021.02.010.  Epub 2021 Feb 22. PMID: 33631277

Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19. Takafuji S, Mori T, Nishimura N, Yamamoto N, Uemura S, Nozu K, Terui K, Toki T, Ito E, Muramatsu H, Takahashi Y, Matsuo M, Yamamura T, Iijima K. Pediatr Hematol Oncol. 2021 Feb 24:1-16. doi: 10.1080/08880018.2021.1887984. Online ahead of print. PMID: 33622161 

A useful method to diagnose Pearson syndrome mimicking DiamondBlackfan anemia. Nishimura T, Yamada A, Utoyama M, Saito Y, Moritake H. Pediatr Int. 2021 Feb;63(2):223-225. doi: 10.1111/ped.14385. Epub 2021 Feb 15. PMID: 33586850 No abstract available.

Successful gene therapy of Diamond-Blackfan anemia in a mouse model and human CD34+ cord blood hematopoietic stem cells using a clinically applicable lentiviral vector. Liu Y, Dahl M, Debnath S, Rothe M, Smith EM, Grahn THM, Warsi S, Chen J, Flygare J, Schambach A, Karlsson S. Haematologica. 2021 Jan 14. doi:10.3324/haematol.2020.269142.  Online ahead of print. PMID: 33440921

Horner Syndrome: An Unknown Entity After Tunneled Central Venous Catheter Insertion. Chakraborty S, Dua V, Sachdev M, Bansal M, Sinha A. J Pediatr Hematol Oncol. 2021 Jan;43(1):37-38. doi: 10.1097/MPH.0000000000001947. PMID: 32925404 No abstract available.