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.PMID: 19061985 [PubMed – indexed for MEDLINE]

Diamond-Blackfan anemia: a ribosomal puzzle.
Dianzani I, Loreni F. Haematologica. 2008 Nov;93(11):1601-4. No abstract available. PMID: 18978295 [PubMed – in process]

Multiplex ligation-dependent probe amplification (MLPA) enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency.
Quarello P, Garelli E, Brusco A, Carando A, Pappi P, Barberis M, Coletti V, Campagnoli MF, Dianzani I, Ramenghi U. Haematologica. 2008 Oct 2. [Epub ahead of print] No abstract available. PMID: 18835835 [PubMed – as supplied by publisher]

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 Sep 24. [Epub ahead of print] PMID: 18815190 [PubMed – as supplied by publisher]

A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia.
Boria I, Quarello P, Avondo F, Garelli E, Aspesi A, Carando A, Campagnoli MF, Dianzani I, Ramenghi U. Hum Mutat. 2008 Sep 9;29(11):E263-E270. [Epub ahead of print] PMID: 18781615 [PubMed – as supplied by publisher]

Congenital erythroid and myeloid hypoplasia terminating myelodysplastic syndrome.
Nishio N, Yagasaki H, Takahashi Y, Muramatsu H, Hama A, Xu Y, Villalobos IB, Kojima S. J Pediatr Hematol Oncol. 2008 Sep;30(9):692-5. PMID: 18776763 [PubMed – indexed for MEDLINE]

Study of the effects of proteasome inhibitors on ribosomal protein S19 mutants, identified in patients with Diamond-Blackfan anemia.
Crétien A, Hurtaud C, Moniz H, Proust A, Marie I, Wagner-Ballon O, Choesmel V, Gleizes PE, Leblanc T, Delaunay J, Tchernia G, Mohandas N, Da Costa L. Haematologica. 2008 Sep 2. [Epub ahead of print] PMID: 18768533 [PubMed – as supplied by publisher]

Diamond-Blackfan anemia: a new facet.
Shimamura A. Blood. 2008 Sep 1;112(5):1552-3. No abstract available. PMID: 18725571 [PubMed]

Gene therapy of Diamond Blackfan anemia CD34(+) cells leads to improved erythroid development and engraftment following transplantation.
Flygare J, Olsson K, Richter J, Karlsson S. Exp Hematol. 2008 Nov;36(11):1434-41. Epub 2008 Aug 19. PMID: 18715690 [PubMed – in process]

The role of human ribosomal proteins in the maturation of rRNA and ribosome production.
Robledo S, Idol RA, Crimmins DL, Ladenson JH, Mason PJ, Bessler M. RNA. 2008 Sep;14(9):1918-29. Epub 2008 Aug 12. PMID: 18697920 [PubMed – indexed for MEDLINE]

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.
Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM; Participants of Sixth Annual Daniella Maria Arturi International Consensus Conference. Br J Haematol. 2008 Sep;142(6):859-76. Epub 2008 Jul 30. PMID: 18671700 [PubMed – in process]

Dark skin mutations shed light on inherited anemia.
Mason PJ, Bessler M. Nat Genet. 2008 Aug;40(8):931-2. No abstract available. PMID: 18665127 [PubMed – indexed for MEDLINE]

Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia.
Uechi T, Nakajima Y, Chakraborty A, Torihara H, Higa S, Kenmochi N. Hum Mol Genet. 2008 Oct 15;17(20):3204-11. Epub 2008 Jul 24. PMID: 18653748 [PubMed – in process]

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia.
Farrar JE, Nater M, Caywood E, McDevitt MA, Kowalski J, Takemoto CM, Talbot CC Jr, Meltzer P, Esposito D, Beggs AH, Schneider HE, Grabowska A, Ball SE, Niewiadomska E, Sieff CA, Vlachos A, Atsidaftos E, Ellis SR, Lipton JM, Gazda HT, Arceci RJ. Blood. 2008 Sep 1;112(5):1582-92. Epub 2008 Jun 5. PMID: 18535205 [PubMed – indexed for MEDLINE]

Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family.
Danilova N, Sakamoto KM, Lin S. Blood. 2008 May 30. [Epub ahead of print] PMID: 18515656 [PubMed – as supplied by publisher]

Haploinsufficiency of RPS14 in 5q- syndrome is associated with deregulation of ribosomal- and translation-related genes.
Pellagatti A, Hellström-Lindberg E, Giagounidis A, Perry J, Malcovati L, Della Porta MG, Jädersten M, Killick S, Fidler C, Cazzola M, Wainscoat JS, Boultwood J. Br J Haematol. 2008 Jul;142(1):57-64. Epub 2008 May 8. PMID: 18477045 [PubMed – in process]

RPS19 mutations in patients with Diamond-Blackfan anemia.
Campagnoli MF, Ramenghi U, Armiraglio M, Quarello P, Garelli E, Carando A, Avondo F, Pavesi E, Fribourg S, Gleizes PE, Loreni F, Dianzani I. Hum Mutat. 2008 Jul;29(7):911-20. Review. PMID: 18412286 [PubMed – indexed for MEDLINE]

Ribosomal dysfunction and inherited marrow failure.
Ganapathi KA, Shimamura A. Br J Haematol. 2008 May;141(3):376-87. Review. PMID: 18410571 [PubMed – indexed for MEDLINE]

Obsessive compulsive disorder comorbidity in DBA.
Pallanti S, Masetti S, Bernardi S, Innocenti A, Markella M, Hollander E. Clin Pract Epidemol Ment Health. 2008 Mar 10;4:6. PMID: 18331650 [PubMed – in process]

Anemia in children.
Muramatsu H, Kojima S. Nippon Rinsho. 2008 Mar;66(3):544-7. Review. Japanese. PMID: 18326324 [PubMed – indexed for MEDLINE]

Anesthetic management in a child with Diamond-Blackfan anemia.
Katircioglu K, Ozturk Kavrut N, Ozkalkanli MY, Savaci S. Paediatr Anaesth. 2008 Jun;18(6):574-5. Epub 2008 Feb 28. No abstract available. PMID: 18312511 [PubMed – indexed for MEDLINE]

Diamond Blackfan anemia: a disorder of red blood cell development.
Ellis SR, Lipton JM. Curr Top Dev Biol. 2008;82:217-41. Review. PMID: 18282522 [PubMed – indexed for MEDLINE]

A heme export protein is required for red blood cell differentiation and iron homeostasis.
Keel SB, Doty RT, Yang Z, Quigley JG, Chen J, Knoblaugh S, Kingsley PD, De Domenico I, Vaughn MB, Kaplan J, Palis J, Abkowitz JL. Science. 2008 Feb 8;319(5864):825-8. PMID: 18258918 [PubMed – indexed for MEDLINE]

Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder.
Choesmel V, Fribourg S, Aguissa-Touré AH, Pinaud N, Legrand P, Gazda HT, Gleizes PE. Hum Mol Genet. 2008 May 1;17(9):1253-63. Epub 2008 Jan 29. PMID: 18230666 [PubMed – indexed for MEDLINE]

Deficient RPS19 protein production induces cell cycle arrest in erythroid progenitor cells.
Kuramitsu M, Hamaguchi I, Takuo M, Masumi A, Momose H, Takizawa K, Mochizuki M, Naito S, Yamaguchi K. Br J Haematol. 2008 Feb;140(3):348-59. PMID: 18217898 [PubMed – indexed for MEDLINE]

Identification of RPS14 as a 5q- syndrome gene by RNA interference screen.
Ebert BL, Pretz J, Bosco J, Chang CY, Tamayo P, Galili N, Raza A, Root DE, Attar E, Ellis SR, Golub TR. Nature. 2008 Jan 17;451(7176):335-9. PMID: 18202658 [PubMed – indexed for MEDLINE]

Inherited aplastic anaemias/bone marrow failure syndromes.
Dokal I, Vulliamy T. Blood Rev. 2008 May;22(3):141-53. Epub 2007 Dec 31. Review. PMID: 18164793 [PubMed – indexed for MEDLINE]

Relative response of patients with myelodysplastic syndromes and other transfusion-dependent anaemias to deferasirox (ICL670): a 1-yr prospective study.
Porter J, Galanello R, Saglio G, Neufeld EJ, Vichinsky E, Cappellini MD, Olivieri N, Piga A, Cunningham MJ, Soulières D, Gattermann N, Tchernia G, Maertens J, Giardina P, Kwiatkowski J, Quarta G, Jeng M, Forni GL, Stadler M, Cario H, Debusscher L, Della Porta M, Cazzola M, Greenberg P, Alimena G, Rabault B, Gathmann I, Ford JM, Alberti D, Rose C. Eur J Haematol. 2008 Feb;80(2):168-76. Epub 2007 Nov 17. PMID: 18028431 [PubMed – indexed for MEDLINE]