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References
These sources were used to develop the Genetics Home Reference
gene summary
on the RPS24 gene.
Badhai J, Fröjmark AS, J Davey E, Schuster J, Dahl N. Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia. Biochim Biophys Acta. 2009 Aug 16; [Epub ahead of print].
PubMed citation
Boria I, Quarello P, Avondo F, Garelli E, Aspesi A, Carando A, Campagnoli MF, Dianzani I, Ramenghi U. A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia. Hum Mutat. 2008 Nov;29(11):E263-70.
PubMed citation
Choesmel V, Fribourg S, Aguissa-Touré AH, Pinaud N, Legrand P, Gazda HT, Gleizes PE. Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder. Hum Mol Genet. 2008 May 1;17(9):1253-63. Epub 2008 Jan 29.
PubMed citation
Ellis SR, Lipton JM. Diamond Blackfan anemia: a disorder of red blood cell development. Curr Top Dev Biol. 2008;82:217-41. Review.
PubMed citation
Entrez
Gene
Flygare J, Karlsson S. Diamond-Blackfan anemia: erythropoiesis lost in translation. Blood. 2007 Apr 15;109(8):3152-4. Epub 2006 Dec 12. Review.
PubMed citation
Gazda HT, Grabowska A, Merida-Long LB, Latawiec E, Schneider HE, Lipton JM, Vlachos A, Atsidaftos E, Ball SE, Orfali KA, Niewiadomska E, Da Costa L, Tchernia G, Niemeyer C, Meerpohl JJ, Stahl J, Schratt G, Glader B, Backer K, Wong C, Nathan DG, Beggs AH, Sieff CA. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am J Hum Genet. 2006 Dec;79(6):1110-8. Epub 2006 Nov 2.
PubMed citation
Lipton JM, Ellis SR. Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis. Hematol Oncol Clin North Am. 2009 Apr;23(2):261-82. Review.
PubMed citation
OMIM
Robledo S, Idol RA, Crimmins DL, Ladenson JH, Mason PJ, Bessler M. The role of human ribosomal proteins in the maturation of rRNA and ribosome production. RNA. 2008 Sep;14(9):1918-29. Epub 2008 Aug 12.
PubMed citation
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. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol. 2008 Sep;142(6):859-76. Epub 2008 Jul 30.
PubMed citation
Reviewed: October 2009
Published: March 7, 2010