{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T21:17:37Z","timestamp":1761513457921},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2014,4,30]],"date-time":"2014-04-30T00:00:00Z","timestamp":1398816000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Ann Hematol"],"published-print":{"date-parts":[[2014,9]]},"DOI":"10.1007\/s00277-014-2090-4","type":"journal-article","created":{"date-parts":[[2014,4,29]],"date-time":"2014-04-29T08:00:45Z","timestamp":1398758445000},"page":"1515-1522","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Identification of acquired mutations by whole-genome sequencing in GATA-2 deficiency evolving into myelodysplasia and acute leukemia"],"prefix":"10.1007","volume":"93","author":[{"given":"Tohru","family":"Fujiwara","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriko","family":"Fukuhara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryo","family":"Funayama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoki","family":"Nariai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mayumi","family":"Kamata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Nagashima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaname","family":"Kojima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasushi","family":"Onishi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoji","family":"Sasahara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenichi","family":"Ishizawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masao","family":"Nagasaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiko","family":"Nakayama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideo","family":"Harigae","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,4,30]]},"reference":[{"key":"2090_CR1","doi-asserted-by":"crossref","first-page":"31087","DOI":"10.1074\/jbc.R110.159079","volume":"285","author":"EH Bresnick","year":"2010","unstructured":"Bresnick EH, Lee HY, Fujiwara T, Johnson KD, Keles S (2010) GATA switches as developmental drivers. J Biol Chem 285:31087\u201331093. doi: 10.1074\/jbc.R110.159079","journal-title":"J Biol Chem"},{"key":"2090_CR2","doi-asserted-by":"crossref","first-page":"2656","DOI":"10.1182\/blood-2011-06-360313","volume":"118","author":"RE Dickinson","year":"2011","unstructured":"Dickinson RE, Griffin H, Bigley V, Reynard LN, Hussain R, Haniffa M, Lakey JH, Rahman T, Wang XN, McGovern N, Pagan S, Cookson S, McDonald D, Chua I, Wallis J, Cant A, Wright M, Keavney B, Chinnery PF, Loughlin J, Hambleton S, Santibanez-Koref M, Collin M (2011) Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood 118:2656\u20132658. doi: 10.1182\/blood-2011-06-360313","journal-title":"Blood"},{"key":"2090_CR3","doi-asserted-by":"crossref","first-page":"2653","DOI":"10.1182\/blood-2011-05-356352","volume":"118","author":"AP Hsu","year":"2011","unstructured":"Hsu AP, Sampaio EP, Khan J, Calvo KR, Lemieux JE, Patel SY, Frucht DM, Vinh DC, Auth RD, Freeman AF, Olivier KN, Uzel G, Zerbe CS, Spalding C, Pittaluga S, Raffeld M, Kuhns DB, Ding L, Paulson ML, Marciano BE, Gea-Banacloche JC, Orange JS, Cuellar-Rodriguez J, Hickstein DD, Holland SM (2011) Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood 118:2653\u20132655. doi: 10.1182\/blood-2011-05-356352","journal-title":"Blood"},{"key":"2090_CR4","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1038\/ng.923","volume":"43","author":"P Ostergaard","year":"2011","unstructured":"Ostergaard P, Simpson MA, Connell FC, Steward CG, Brice G, Woollard WJ, Dafou D, Kilo T, Smithson S, Lunt P, Murday VA, Hodgson S, Keenan R, Pilz DT, Martinez-Corral I, Makinen T, Mortimer PS, Jeffery S, Trembath RC, Mansour S (2011) Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet 43:929\u2013931. doi: 10.1038\/ng.923","journal-title":"Nat Genet"},{"key":"2090_CR5","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1038\/ng.913","volume":"43","author":"CN Hahn","year":"2011","unstructured":"Hahn CN, Chong CE, Carmichael CL, Wilkins EJ, Brautigan PJ, Li XC, Babic M, Lin M, Carmagnac A, Lee YK, Kok CH, Gagliardi L, Friend KL, Ekert PG, Butcher CM, Brown AL, Lewis ID, To LB, Timms AE, Storek J, Moore S, Altree M, Escher R, Bardy PG, Suthers GK, D'Andrea RJ, Horwitz MS, Scott HS (2011) Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet 43:1012\u20131017. doi: 10.1038\/ng.913","journal-title":"Nat Genet"},{"key":"2090_CR6","doi-asserted-by":"crossref","first-page":"890","DOI":"10.3324\/haematol.2011.054361","volume":"97","author":"C B\u00f6d\u00f6r","year":"2012","unstructured":"B\u00f6d\u00f6r C, Renneville A, Smith M, Charazac A, Iqbal S, Etancelin P, Cavenagh J, Barnett MJ, Kramarzov\u00e1 K, Krishnan B, Matolcsy A, Preudhomme C, Fitzgibbon J, Owen C (2012) Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival. Haematologica 97:890\u2013894. doi: 10.3324\/haematol.2011.054361","journal-title":"Haematologica"},{"key":"2090_CR7","doi-asserted-by":"crossref","first-page":"3587","DOI":"10.1093\/nar\/18.12.3587","volume":"18","author":"JP Morgenstern","year":"1990","unstructured":"Morgenstern JP, Land H (1990) Advanced mammalian gene transfer: high titre retroviral vectors with multiple drug selection markers and a complementary helper-free packaging cell line. Nucleic Acids Res 18:3587\u20133596","journal-title":"Nucleic Acids Res"},{"key":"2090_CR8","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1016\/j.molcel.2009.11.001","volume":"36","author":"T Fujiwara","year":"2009","unstructured":"Fujiwara T, O'Geen H, Keles S, Blahnik K, Kang YA, Harigae H, Choi K, Farnham PJ, Bresnick EH (2009) Discovering hematopoietic mechanisms through genome-wide analysis of GATA factor chromatin occupancy. Mol Cell 36:667\u2013681. doi: 10.1016\/j.molcel.2009.11.001","journal-title":"Mol Cell"},{"key":"2090_CR9","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1002\/jcp.20238","volume":"203","author":"LA Solchaga","year":"2005","unstructured":"Solchaga LA, Penick K, Porter JD, Goldberg VM, Caplan AI, Welter JF (2005) FGF-2 enhances the mitotic and chondrogenic potentials of human adult bone marrow-derived mesenchymal stem cells. J Cell Physiol 203:398\u2013409","journal-title":"J Cell Physiol"},{"key":"2090_CR10","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25:1754\u20131760. doi: 10.1093\/bioinformatics\/btp324","journal-title":"Bioinformatics"},{"key":"2090_CR11","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA (2010) The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20:1297\u20131303. doi: 10.1101\/gr.107524.110","journal-title":"Genome Res"},{"key":"2090_CR12","doi-asserted-by":"crossref","first-page":"2454","DOI":"10.1182\/blood-2012-03-420489","volume":"120","author":"PL Greenberg","year":"2012","unstructured":"Greenberg PL, Tuechler H, Schanz J, Sanz G, Garcia-Manero G, Sol\u00e9 F, Bennett JM, Bowen D, Fenaux P, Dreyfus F, Kantarjian H, Kuendgen A, Levis A, Malcovati L, Cazzola M, Cermak J, Fonatsch C, Le Beau MM, Slovak ML, Krieger O, Luebbert M, Maciejewski J, Magalhaes SM, Miyazaki Y, Pfeilst\u00f6cker M, Sekeres M, Sperr WR, Stauder R, Tauro S, Valent P, Vallespi T, van de Loosdrecht AA, Germing U, Haase D (2012) Revised international prognostic scoring system for myelodysplastic syndromes. Blood 120:2454\u20132465. doi: 10.1182\/blood-2012-03-420489","journal-title":"Blood"},{"key":"2090_CR13","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1126\/science.284.5411.143","volume":"284","author":"MF Pittenger","year":"1999","unstructured":"Pittenger MF, Mackay AM, Beck SC, Jaiswal RK, Douglas R, Mosca JD, Moorman MA, Simonetti DW, Craig S, Marshak DR (1999) Multilineage potential of adult human mesenchymal stem cells. Science 284:143\u2013147","journal-title":"Science"},{"key":"2090_CR14","doi-asserted-by":"crossref","first-page":"3636","DOI":"10.1182\/blood.V89.10.3636","volume":"89","author":"FY Tsai","year":"1997","unstructured":"Tsai FY, Orkin SH (1997) Transcription factor GATA-2 is required for proliferation\/survival of early hematopoietic cells and mast cell formation, but not for erythroid and myeloid terminal differentiation. Blood 89:3636\u20133643","journal-title":"Blood"},{"key":"2090_CR15","doi-asserted-by":"crossref","first-page":"1568","DOI":"10.1001\/jama.2011.473","volume":"305","author":"DC Link","year":"2011","unstructured":"Link DC, Schuettpelz LG, Shen D, Wang J, Walter MJ, Kulkarni S, Payton JE, Ivanovich J, Goodfellow PJ, Le Beau M, Koboldt DC, Dooling DJ, Fulton RS, Bender RH, Fulton LL, Delehaunty KD, Fronick CC, Appelbaum EL, Schmidt H, Abbott R, O'Laughlin M, Chen K, McLellan MD, Varghese N, Nagarajan R, Heath S, Graubert TA, Ding L, Ley TJ, Zambetti GP, Wilson RK, Mardis ER (2011) Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML. JAMA 305:1568\u20131576. doi: 10.1001\/jama.2011.473","journal-title":"JAMA"},{"issue":"Suppl 14","key":"2090_CR16","doi-asserted-by":"crossref","first-page":"S7","DOI":"10.1186\/1471-2105-12-S14-S7","volume":"12","author":"S Suzuki","year":"2011","unstructured":"Suzuki S, Yasuda T, Shiraishi Y, Miyano S, Nagasaki M (2011) ClipCrop: a tool for detecting structural variations with single-base resolution using soft-clipping information. BMC Bioinformatics 12(Suppl 14):S7. doi: 10.1186\/1471-2105-12-S14-S7","journal-title":"BMC Bioinformatics"},{"key":"2090_CR17","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/S0092-8674(02)00976-5","volume":"111","author":"J M\u00fcller","year":"2002","unstructured":"M\u00fcller J, Hart CM, Francis NJ, Vargas ML, Sengupta A, Wild B, Miller EL, O'Connor MB, Kingston RE, Simon JA (2002) Histone methyltransferase activity of a Drosophila Polycomb group repressor complex. Cell 111:197\u2013208","journal-title":"Cell"},{"key":"2090_CR18","doi-asserted-by":"crossref","first-page":"4021","DOI":"10.1182\/blood-2013-09-381665","volume":"122","author":"M Cazzola","year":"2013","unstructured":"Cazzola M, Della Porta MG, Malcovati L (2013) The genetic basis of myelodysplasia and its clinical relevance. Blood 122:4021\u20134034. doi: 10.1182\/blood-2013-09-381665","journal-title":"Blood"},{"key":"2090_CR19","doi-asserted-by":"crossref","first-page":"3403","DOI":"10.1093\/emboj\/cdg326","volume":"22","author":"J Yu","year":"2003","unstructured":"Yu J, Li Y, Ishizuka T, Guenther MG, Lazar MA (2003) A SANT motif in the SMRT corepressor interprets the histone code and promotes histone deacetylation. EMBO J 22:3403\u20133410","journal-title":"EMBO J"},{"key":"2090_CR20","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1038\/nature11606","volume":"492","author":"MT McCabe","year":"2012","unstructured":"McCabe MT, Ott HM, Ganji G, Korenchuk S, Thompson C, Van Aller GS, Liu Y, Graves AP, Della Pietra A 3rd, Diaz E, LaFrance LV, Mellinger M, Duquenne C, Tian X, Kruger RG, McHugh CF, Brandt M, Miller WH, Dhanak D, Verma SK, Tummino PJ, Creasy CL (2012) EZH2 inhibition as a therapeutic strategy for lymphoma with EZH2-activating mutations. Nature 492:108\u2013112. doi: 10.1038\/nature11606","journal-title":"Nature"},{"key":"2090_CR21","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1007\/s11010-012-1272-4","volume":"365","author":"B Muralikrishna","year":"2012","unstructured":"Muralikrishna B, Chaturvedi P, Sinha K, Parnaik VK (2012) Lamin misexpression upregulates three distinct ubiquitin ligase systems that degrade ATR kinase in HeLa cells. Mol Cell Biochem 365:323\u2013332. doi: 10.1007\/s11010-012-1272-4","journal-title":"Mol Cell Biochem"},{"key":"2090_CR22","doi-asserted-by":"crossref","first-page":"1532","DOI":"10.1182\/blood-2011-03-343475","volume":"119","author":"E Frisan","year":"2012","unstructured":"Frisan E, Vandekerckhove J, de Thonel A, Pierre-Eug\u00e8ne C, Sternberg A, Arlet JB, Floquet C, Gyan E, Kosmider O, Dreyfus F, Gabet AS, Courtois G, Vyas P, Ribeil JA, Zermati Y, Lacombe C, Mayeux P, Solary E, Garrido C, Hermine O, Fontenay M (2012) Defective nuclear localization of Hsp70 is associated with dyserythropoiesis and GATA-1 cleavage in myelodysplastic syndromes. Blood 119:1532\u20131542. doi: 10.1182\/blood-2011-03-343475","journal-title":"Blood"}],"container-title":["Annals of Hematology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00277-014-2090-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00277-014-2090-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00277-014-2090-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,8,18]],"date-time":"2020-08-18T14:07:31Z","timestamp":1597759651000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00277-014-2090-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4,30]]},"references-count":22,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2014,9]]}},"alternative-id":["2090"],"URL":"https:\/\/doi.org\/10.1007\/s00277-014-2090-4","relation":{},"ISSN":["0939-5555","1432-0584"],"issn-type":[{"value":"0939-5555","type":"print"},{"value":"1432-0584","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,4,30]]}}}