| 1 | DBA, RPS19
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| An RPS19-edited model for Diamond-Blackfan anemia reveals TP53-dependent impairment of hematopoietic stem cell activity
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| Bhoopalan SV, Yen JS, Mayuranathan T, Mayberry KD, Yao Y, Lillo Osuna MA, Jang Y, Liyanage JS, Blanc L, Ellis SR, Wlodarski MW, Weiss MJ.
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| JCI Insight. Jan 10;8(1):e161810. doi: 10.1172/jci.insight.161810. 2023
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| 2 | DBA, RPS19
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| Mutations in RPS19 may affect ribosome function and biogenesis in Diamond Blackfan anemia.
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| Hiregange DG, Rivalta A, Yonath A, Zimmerman E, Bashan A, Yonath H.
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| FEBS Open Bio. Jul;12(7):1419-1434. doi: 10.1002/2211-5463.13444. Epub 2022 Jun 6. 2022
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| 3 | ALOX15, HNRNPK, RPS19
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| Methylated HNRNPK acts on RPS19 to regulate ALOX15 synthesis in erythropoiesis.
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| Naarmann-de Vries IS, Senatore R, Moritz B, Marx G, Urlaub H, Niessing D, Ostareck DH, Ostareck-Lederer A.
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| Nucleic Acids Res. Apr 6;49(6):3507-3523. doi: 10.1093/nar/gkab116. 2021
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| 4 | DBA, RPS19
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| Computational Studies of the Structural Basis of Human RPS19 Mutations Associated With Diamond-Blackfan Anemia
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| An K, Zhou JB, Xiong Y, Han W, Wang T, Ye ZQ, Wu YD.
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| Front Genet. May 24;12:650897. doi: 10.3389/fgene.2021.650897. 2021
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| 5 | EIF4A1, RPL13, RPL18, RPS19, RPS20
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| The expression and prognostic value of RNA binding proteins in clear cell renal cell carcinoma
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| Li CX, Chen J, Xu ZG, Yiu WK, Lin YT.
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| Transl Cancer Res. Dec;9(12):7415-7431. doi: 10.21037/tcr-20-2393. 2020
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| 6 | RPS19
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| The Ribosomal Protein S19 Suppresses Antitumor Immune Responses via the Complement C5a Receptor 1.
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| Markiewski MM, Vadrevu SK, Sharma SK, Chintala NK, Ghouse S, Cho JH, Fairlie DP, Paterson Y, Astrinidis A, Karbowniczek M.
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| J Immunol. Apr 1;198(7):2989-2999. doi: 10.4049/jimmunol.1602057. Epub 2017 Feb 22. 2017
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| 7 | RPS19
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| Depletion of ribosomal protein S19 causes a reduction of rRNA synthesis.
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| Juli G, Gismondi A, Monteleone V, Caldarola S, Iadevaia V, Aspesi A, Dianzani I, Proud CG, Loreni F.
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| Sci Rep. Oct 13;6:35026. doi: 10.1038/srep35026 2016
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| 8 | GATA1, MAPK14, RPS19
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| TNF-mediated inflammation represses GATA1 and activates p38 MAP kinase in RPS19-deficient hematopoietic progenitors
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| Bibikova E, Youn MY, Danilova N, Ono-Uruga Y, Konto-Ghiorghi Y, Ochoa R, Narla A, Glader B, Lin S, Sakamoto KM.
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| Blood. Dec 11;124(25):3791-8. doi: 10.1182/blood-2014-06-584656. Epub 2014 Sep 30. 2014
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| 9 | DBA, RPS19
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| First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond–Blackfan anemia.
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| Da Costa L, Chanoz-Poulard G, Simansour M, French M, Bouvier R, Prieur F, Couque N, Delezoide AL, Leblanc T, Mohandas N, Touraine R.
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| Am J Hematol Apr;88(4):340-1. doi: 10.1002/ajh.23429. 2013
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| 10 | DBA, DBA10, DBA4, DBA5, RPS17, RPS19, RPS26, RPS35A
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| Ribosomal protein gene deletions in Diamond-Blackfan anemia.
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| Farrar JE, Vlachos A, Atsidaftos E, Carlson-Donohoe H, Markello TC, Arceci RJ, Ellis SR, Lipton JM, Bodine DM.
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| Blood 118(26):6943-51. doi: 10.1182/blood-2011-08-375170. Epub 2011 Nov 1.
2011
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| 11 | DBA, DBA3, DBA4, RPS19, RPS24
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| Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia.
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| Badhai J, Fröjmark AS, J Davey E, Schuster J, Dahl N.
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| Biochim Biophys Acta 1792(10):1036-42. Epub 2009 Aug 16. 2009
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| 12 | DBA, RPS19
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| RPS19 mutations in patients with Diamond-Blackfan anemia.
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| Campagnoli MF, Ramenghi U, Armiraglio M, Quarello P, Garelli E, Carando A, Avondo F, Pavesi E, Fribourg S, Gleizes PE, Loreni F, Dianzani I.
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| Hum Mutat 29(7):911-20. Review.
2008
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| 13 | DBA5, RPL11, RPL14, RPL26, RPL35A, RPL5, RPL7, RPS15, RPS16, RPS17, RPS19, RPS24, RPS25, RPS28, RPS6, RPS7
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| The role of human ribosomal proteins in the maturation of rRNA and ribosome production.
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| Robledo S, Idol RA, Crimmins DL, Ladenson JH, Mason PJ, Bessler M.
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| RNA 14(9):1918-29. Epub 2008 Aug 12. 2008
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| 14 | DBA, DBA4, RPS17, RPS19
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| RPS19 mutations in patients with Diamond-Blackfan anemia.
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| Campagnoli MF, Ramenghi U, Armiraglio M, Quarello P, Garelli E, Carando A, Avondo F, Pavesi E, Fribourg S, Gleizes PE, Loreni F, Dianzani I.
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| Hum Mutat 29(7):911-20. Review. 2008
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| 15 | DBA, RPS19
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| Deficient RPS19 protein production induces cell cycle arrest in erythroid progenitor cells.
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| Kuramitsu M, Hamaguchi I, Takuo M, Masumi A, Momose H, Takizawa K, Mochizuki M, Naito S, Yamaguchi K.
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| Br J Haematol 140(3):348-59.PMID: 18217898 2008
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| 16 | RPS19, DBA
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| The functions of RPS19 and their relationship to Diamond-Blackfan anemia: A review.
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| Morimoto K, Lin S, Sakamoto K.
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| Mol Genet Metab 90(4):358-362. Epub 2006 Dec 18. 2007
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| 17 | DBA,RPS19
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| Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.
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| Angelini M, Cannata S, Mercaldo V, Gibello L, Santoro C, Dianzani I, Loreni F.
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| Hum Mol Genet 16(14):1720-7. Epub 2007 May 20. 2007
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| 18 | DBA, RPS19
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| Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19.
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| Gregory LA, Aguissa-Toure AH, Pinaud N, Legrand P, Gleizes PE, Fribourg S.
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| Nucleic Acids Res 35(17):5913-21. Epub 2007 Aug 28. 2007
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| 19 | DBA, RPS19
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| Ribosomal protein mutations in Diamond-Blackfan anemia: might they operate upstream from protein synthesis?
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| Pederson T.
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| FASEB J 21(13):3442-5. Epub 2007 Jun 22.PMID: 17586729 2007
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| 20 | RPS19, DBA
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| Identification of a new in-frame deletion of six amino acids in ribosomal protein S19 in a patient with Diamond-Blackfan anemia.
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| Cmejlova J, Cerna Z, Votava T, Pospisilova D, Cmejla R.
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| Blood Cells Mol Dis 36(3):337-41. Epub 2006 Mar 13. 2006
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| 21 | RPS19, CHH, RMRP
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| Analysis of RPS19 in patients with cartilage-hair hypoplasia and severe anemia: preliminary results.
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| Williams MS, Hermanns P.
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| Am J Med Genet A 138(1):66-7. No abstract available. 2005
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| 22 | RPS19, RMRP, CHH
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| The natural history of severe anemia in cartilage-hair hypoplasia.
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| Williams MS, Ettinger RS, Hermanns P, Lee B, Carlsson G, Taskinen M, Makitie O.
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| Am J Med Genet A 138(1):35-40. 2005
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| 23 | RPS12, RPS3A, RPS13, RPS11, RPS10, RPS14, RPS15, RPS16, RPS17, RPS18, RPS19, RPS20, RPS21, RPS23, RPS24, RPS25, RPS26, RPS27, RPS27A, RPS28, RPS29
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| Mass spectrometric analysis of the human 40S ribosomal subunit: native and HCV IRES-bound complexes.
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| Yu Y, Ji H, Doudna JA, Leary JA.
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| Protein Sci 14(6):1438-46. Epub 2005 May 9. 2005
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| 24 | PIM1,RPS19
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| Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein.
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| 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.
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| Haematologica 90(11):1453-62. 2005
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| 25 | RPS19, DBA
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| Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia.
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| Chatr-Aryamontri A, Angelini M, Garelli E, Tchernia G, Ramenghi U, Dianzani I, Loreni F.
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| Hum Mutat 24(6):526-33. 2004
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| 26 | RPS19, DBA
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| RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.
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| 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.
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| Br J Haematol 127(1):105-13. 2004
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| 27 | RPS19, DBA
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| 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.
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| Da Costa L, Tchernia G, Gascard P, Lo A, Meerpohl J, Niemeyer C, Chasis JA, Fixler J, Mohandas N.
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| Blood 101(12):5039-45. Epub 2003 Feb 13. 2003
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| 28 | DBA, RPS19, RPS19P1, RPS19P2
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| Ribosomal protein S19 gene mutations in patients with diamond-blackfan anemia and identification of ribosomal protein S19 pseudogenes.
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| Cmejla R, Blafkova J, Stopka T, Zavadil J, Pospisilova D, Mihal V, Petrtylova K, Jelinek J.
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| Blood Cells Mol Dis 26(2):124-32. 2000
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| 29 | RPS19
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| Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population.
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| Ramenghi U, Campagnoli MF, Garelli E, Carando A, Brusco A, Bagnara GP, Strippoli P, Izzi GC, Brandalise S, Riccardi R, Dianzani I.
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| Blood Cells Mol Dis 26(5):417-22. 2000
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| 30 | DBA, RPS19
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| Mutations in Ribosomal Protein S19 Gene and Diamond Blackfan Anemia: Wide Variations in Phenotypic Expression.
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| Gustavsson P, Garelli E, Brusco A, Tiemann C, Perignon JL, Bouchier C, Cicchiello L, Dahl N, Mohandas N, Tchernia G.
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| Blood 94(12):4294-4306 1999
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| 31 | RPL18, RPS15, RPS16, RPS19
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| Report of the third international workshop on human chromosome 19 mapping 1996.
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| Mohrenweiser H, et al.
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| Cytogenet Cell Genet 74 : 161-186. 1996
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