Human gene mutations. Gene symbol: RPS19. Disease: Diamond-Blackfan anaemia.
Pereira J, Molinés A, Ribeiro ML. Hum Genet. 2007 Sep;122(2):213. No abstract available. PMID: 18386372 [PubMed – indexed for MEDLINE]

Congenital bone marrow failure syndromes. The last 20 years by the example of congenital neutropenia.
Zeidler C, Welte K. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2007 Dec;50(12):1564-8. Review. German. PMID: 18026880 [PubMed – indexed for MEDLINE]

Diagnosis, genetics, and management of inherited bone marrow failure syndromes.
Alter BP. Hematology Am Soc Hematol Educ Program. 2007;2007:29-39. PMID: 18024606 [PubMed – in process]

Ribosomal protein S19 deficiency leads to reduced proliferation and increased apoptosis but does not affect terminal erythroid differentiation in a cell line model of Diamond-Blackfan anemia.
Miyake K, Utsugisawa T, Flygare J, Kiefer T, Hamaguchi I, Richter J, Karlsson S. Stem Cells. 2008 Feb;26(2):323-9. Epub 2007 Oct 25. PMID: 17962699 [PubMed – indexed for MEDLINE]

Successful treatment of Diamond Blackfan anemia with metoclopramide.
Nawel G, Fethi M, Kouki R, Mohamed B. J Pediatr Hematol Oncol. 2007 Oct;29(10):728. No abstract available. PMID: 17921858 [PubMed – indexed for MEDLINE]

Bone marrow examination of inherited diseases in children.
Fenneteau O, Lainey E. Ann Biol Clin (Paris). 2007 Sep-Oct;65(5):483-503. Review. French. PMID: 17913668 [PubMed – indexed for MEDLINE]

Reversal of mirror syndrome after prenatal treatment of Diamond-Blackfan anemia.
Valsky DV, Daum H, Yagel S. Prenat Diagn. 2007 Dec;27(12):1161-4. No abstract available. PMID: 17828794 [PubMed – indexed for MEDLINE]

Erythrocyte disorders in the perinatal period.
Steiner LA, Gallagher PG. Semin Perinatol. 2007 Aug;31(4):254-61. Review. PMID: 17825683 [PubMed – indexed for MEDLINE]

Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19.
Gregory LA, Aguissa-Touré AH, Pinaud N, Legrand P, Gleizes PE, Fribourg S. Nucleic Acids Res. 2007;35(17):5913-21. Epub 2007 Aug 28. PMID: 17726054 [PubMed – indexed for MEDLINE]

Hematopoietic stem cell transplantation for Diamond-Blackfan anemia: a report from the Aplastic Anemia Committee of the Japanese Society of Pediatric Hematology.
Mugishima H, Ohga S, Ohara A, Kojima S, Fujisawa K, Tsukimoto I; for the Aplastic Anemia Committee of the Japanese Society of Pediatric Hematology. Pediatr Transplant. 2007 Sep;11(6):601-7. PMID: 17663681 [PubMed – indexed for MEDLINE]

Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia.
Cmejla R, Cmejlova J, Handrkova H, Petrak J, Pospisilova D. Hum Mutat. 2007 Dec;28(12):1178-82. PMID: 17647292 [PubMed – indexed for MEDLINE]

Hematopoietic growth factors for the treatment of inherited cytopenias.
Zeidler C, Welte K. Semin Hematol. 2007 Jul;44(3):133-7. Review. PMID: 17631177 [PubMed – indexed for MEDLINE]

Ribosomal protein mutations in Diamond-Blackfan anemia: might they operate upstream from protein synthesis?
Pederson T. FASEB J. 2007 Nov;21(13):3442-5. Epub 2007 Jun 22. PMID: 17586729 [PubMed – indexed for MEDLINE]

Successful treatment of a Diamond-Blackfan anemia patient with amino acid leucine.
Pospisilova D, Cmejlova J, Hak J, Adam T, Cmejla R. Haematologica. 2007 May;92(5):e66-7. No abstract available. PMID: 17562599 [PubMed – indexed for MEDLINE]

Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.
Angelini M, Cannata S, Mercaldo V, Gibello L, Santoro C, Dianzani I, Loreni F. Hum Mol Genet. 2007 Jul 15;16(14):1720-7. Epub 2007 May 20. PMID: 17517689 [PubMed – indexed for MEDLINE]

Cleft palate, bilateral external auditory canal atresia, and other midline defects associated with Diamond-Blackfan anemia: case report.
McFarren A, Jayabose S, Fevzi Ozkaynak M, Tugal O, Sandoval C. J Pediatr Hematol Oncol. 2007 May;29(5):338-40. PMID: 17483715 [PubMed – indexed for MEDLINE]

The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA.
Ganapathi KA, Austin KM, Lee CS, Dias A, Malsch MM, Reed R, Shimamura A. Blood. 2007 Sep 1;110(5):1458-65. Epub 2007 May 2. PMID: 17475909 [PubMed – indexed for MEDLINE]

Current diagnosis of inherited bone marrow failure syndromes.
Tamary H, Alter BP. Pediatr Hematol Oncol. 2007 Mar;24(2):87-99. Review. PMID: 17454774 [PubMed – indexed for MEDLINE]

Comparison of megadose methylprednisolone versus conventional dose prednisolone in hematologic disorders.
Yetgin S, Ozsoylu S. J Pediatr Hematol Oncol. 2007 Apr;29(4):253-9. Review. PMID: 17414568 [PubMed – indexed for MEDLINE]

Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production.
Idol RA, Robledo S, Du HY, Crimmins DL, Wilson DB, Ladenson JH, Bessler M, Mason PJ. Blood Cells Mol Dis. 2007 Jul-Aug;39(1):35-43. Epub 2007 Mar 21. PMID: 17376718 [PubMed – indexed for MEDLINE]

RPS19 and JAK2 genes are not silenced by DNA methylation in diamond blackfan anemia.
Jelinek J, Issa JP, He R, Cmejla R, Cmejlova J, Pospisilova D. J Pediatr Hematol Oncol. 2007 Mar;29(3):207-8. No abstract available. PMID: 17356406 [PubMed – indexed for MEDLINE]

Stumpf JL. Am J Health Syst Pharm. 2007 Mar 15;64(6):606-16. Review. PMID: 17353569 [PubMed – indexed for MEDLINE]

Fatal agranulocytosis after deferiprone therapy in a child with Diamond-Blackfan anemia.
Henter JI, Karlén J. Blood. 2007 Jun 15;109(12):5157-9. Epub 2007 Mar 7. PMID: 17344464 [PubMed – indexed for MEDLINE]

Metoclopramide treatment in DBA patients: no complete response in a French prospective study.
Leblanc TM, Da Costa L, Marie I, Demolis P, Tchernia G. Blood. 2007 Mar 1;109(5):2266-7. No abstract available. PMID: 17312003 [PubMed – indexed for MEDLINE]

Diamond-Blackfan anemia: erythropoiesis lost in translation.
Flygare J, Karlsson S. Blood. 2007 Apr 15;109(8):3152-4. Epub 2006 Dec 12. Review. PMID: 17164339 [PubMed – indexed for MEDLINE]

Analysis of the ribosomal protein S19 interactome.
Orrù S, Aspesi A, Armiraglio M, Caterino M, Loreni F, Ruoppolo M, Santoro C, Dianzani I. Mol Cell Proteomics. 2007 Mar;6(3):382-93. Epub 2006 Dec 6. PMID: 17151020 [PubMed – indexed for MEDLINE]

Impaired ribosome biogenesis in Diamond-Blackfan anemia.
Choesmel V, Bacqueville D, Rouquette J, Noaillac-Depeyre J, Fribourg S, Crétien A, Leblanc T, Tchernia G, Da Costa L, Gleizes PE. Blood. 2007 Feb 1;109(3):1275-83. Epub 2006 Oct 19. PMID: 17053056 [PubMed – indexed for MEDLINE]

Hypocholesterolemia in chronic anemias with increased erythropoietic activity.
Shalev H, Kapelushnik J, Moser A, Knobler H, Tamary H. Am J Hematol. 2007 Mar;82(3):199-202. PMID: 17039515 [PubMed – indexed for MEDLINE]

Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits.
Flygare J, Aspesi A, Bailey JC, Miyake K, Caffrey JM, Karlsson S, Ellis SR. Blood. 2007 Feb 1;109(3):980-6. Epub 2006 Sep 21. PMID: 16990592 [PubMed – indexed for MEDLINE]