Citations for
1DBA, DBA10, DBA4, DBA5, RPS17, RPS19, RPS26, RPS35A
Ribosomal protein gene deletions in Diamond-Blackfan anemia.
Farrar JE, Vlachos A, Atsidaftos E, Carlson-Donohoe H, Markello TC, Arceci RJ, Ellis SR, Lipton JM, Bodine DM.
Blood 118(26):6943-51. doi: 10.1182/blood-2011-08-375170. Epub 2011 Nov 1. 2011
2DBA, DBA3, DBA4, RPS19, RPS24
Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia.
Badhai J, Fr÷jmark AS, J Davey E, Schuster J, Dahl N.
Biochim Biophys Acta 1792(10):1036-42. Epub 2009 Aug 16. 2009
3DBA, RPS19
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 29(7):911-20. Review. 2008
4DBA5, RPL11, RPL14, RPL26, RPL35A, RPL5, RPL7, RPS15, RPS16, RPS17, RPS19, RPS24, RPS25, RPS28, RPS6, RPS7
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 14(9):1918-29. Epub 2008 Aug 12. 2008
5DBA, DBA4, RPS17, RPS19
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 29(7):911-20. Review. 2008
6DBA, RPS19
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 140(3):348-59.PMID: 18217898 2008
7RPS19, DBA
The functions of RPS19 and their relationship to Diamond-Blackfan anemia: A review.
Morimoto K, Lin S, Sakamoto K.
Mol Genet Metab 90(4):358-362. Epub 2006 Dec 18. 2007
8DBA,RPS19
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 16(14):1720-7. Epub 2007 May 20. 2007
9DBA, RPS19
Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19.
Gregory LA, Aguissa-Toure AH, Pinaud N, Legrand P, Gleizes PE, Fribourg S.
Nucleic Acids Res 35(17):5913-21. Epub 2007 Aug 28. 2007
10DBA, RPS19
Ribosomal protein mutations in Diamond-Blackfan anemia: might they operate upstream from protein synthesis?
Pederson T.
FASEB J 21(13):3442-5. Epub 2007 Jun 22.PMID: 17586729 2007
11RPS19, DBA
Identification of a new in-frame deletion of six amino acids in ribosomal protein S19 in a patient with Diamond-Blackfan anemia.
Cmejlova J, Cerna Z, Votava T, Pospisilova D, Cmejla R.
Blood Cells Mol Dis 36(3):337-41. Epub 2006 Mar 13. 2006
12RPS19, CHH, RMRP
Analysis of RPS19 in patients with cartilage-hair hypoplasia and severe anemia: preliminary results.
Williams MS, Hermanns P.
Am J Med Genet A 138(1):66-7. No abstract available. 2005
13RPS19, RMRP, CHH
The natural history of severe anemia in cartilage-hair hypoplasia.
Williams MS, Ettinger RS, Hermanns P, Lee B, Carlsson G, Taskinen M, Makitie O.
Am J Med Genet A 138(1):35-40. 2005
14RPS12, RPS3A, RPS13, RPS11, RPS10, RPS14, RPS15, RPS16, RPS17, RPS18, RPS19, RPS20, RPS21, RPS23, RPS24, RPS25, RPS26, RPS27, RPS27A, RPS28, RPS29
Mass spectrometric analysis of the human 40S ribosomal subunit: native and HCV IRES-bound complexes.
Yu Y, Ji H, Doudna JA, Leary JA.
Protein Sci 14(6):1438-46. Epub 2005 May 9. 2005
15PIM1,RPS19
Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein.
Chiocchetti A, Gibello L, Carando A, Aspesi A, Secco P, Garelli E, Loreni F, Angelini M, Biava A, Dahl N, Dianzani U, Ramenghi U, Santoro C, Dianzani I.
Haematologica 90(11):1453-62. 2005
16RPS19, DBA
Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia.
Chatr-Aryamontri A, Angelini M, Garelli E, Tchernia G, Ramenghi U, Dianzani I, Loreni F.
Hum Mutat 24(6):526-33. 2004
17RPS19, DBA
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.
Gazda HT, Zhong R, Long L, Niewiadomska E, Lipton JM, Ploszynska A, Zaucha JM, Vlachos A, Atsidaftos E, Viskochil DH, Niemeyer CM, Meerpohl JJ, Rokicka-Milewska R, Pospisilova D, Wiktor-Jedrzejczak W, Nathan DG, Beggs AH, Sieff CA.
Br J Haematol 127(1):105-13. 2004
18RPS19, DBA
Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology.
Da Costa L, Tchernia G, Gascard P, Lo A, Meerpohl J, Niemeyer C, Chasis JA, Fixler J, Mohandas N.
Blood 101(12):5039-45. Epub 2003 Feb 13. 2003
19DBA, RPS19, RPS19P1, RPS19P2
Ribosomal protein S19 gene mutations in patients with diamond-blackfan anemia and identification of ribosomal protein S19 pseudogenes.
Cmejla R, Blafkova J, Stopka T, Zavadil J, Pospisilova D, Mihal V, Petrtylova K, Jelinek J.
Blood Cells Mol Dis 26(2):124-32. 2000
20RPS19
Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population.
Ramenghi U, Campagnoli MF, Garelli E, Carando A, Brusco A, Bagnara GP, Strippoli P, Izzi GC, Brandalise S, Riccardi R, Dianzani I.
Blood Cells Mol Dis 26(5):417-22. 2000
21DBA, RPS19
Mutations in Ribosomal Protein S19 Gene and Diamond Blackfan Anemia: Wide Variations in Phenotypic Expression.
Gustavsson P, Garelli E, Brusco A, Tiemann C, Perignon JL, Bouchier C, Cicchiello L, Dahl N, Mohandas N, Tchernia G.
Blood 94(12):4294-4306 1999
22RPL18, RPS15, RPS16, RPS19
Report of the third international workshop on human chromosome 19 mapping 1996.
Mohrenweiser H, et al.
Cytogenet Cell Genet 74 : 161-186. 1996