Somatic genetic rescue in hematopoietic cells in GATA2 deficiency

被引:32
作者
Catto, Luiz Fernando B. [1 ]
Borges, Gustavo [1 ]
Pinto, Andre L. [1 ]
Cle, Diego V. [1 ]
Chahud, Fernando [2 ]
Santana, Barbara A. [1 ]
Donaires, Flavia S. [1 ]
Calado, Rodrigo T. [1 ]
机构
[1] Univ Sao Paulo, Dept Med Imaging Hematol & Clin Oncol, Ribeirao Preto Sch Med, Ribeirao Preto, Brazil
[2] Univ Sao Paulo, Dept Pathol & Forens Med, Ribeirao Preto Sch Med, Ribeirao Preto, Brazil
基金
巴西圣保罗研究基金会;
关键词
MOSAICISM; DISORDER;
D O I
10.1182/blood.2020005538
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1002 / 1005
页数:4
相关论文
共 16 条
[1]   GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML [J].
Al Seraihi, Ahad F. ;
Rio-Machin, Ana ;
Tawana, Kiran ;
Bodor, Csaba ;
Wang, Jun ;
Nagano, Ai ;
Heward, James A. ;
Iqbal, Sameena ;
Beset, Steven ;
Lea, Nicholas ;
McLornan, Donal ;
Kozyra, Emilia J. ;
Wlodarski, Marcin W. ;
Niemeyer, Charlotte M. ;
Scott, Hamish ;
Hahn, Chris ;
Ellison, Alicia ;
Tummala, Hemanth ;
Cardoso, Shirleny Romualdo ;
Vulliamy, Tom ;
Dokal, Inderjeet ;
Butler, Tom ;
Smith, Matthew ;
Cavenagh, Jamie ;
Fitzgibbon, Jude .
LEUKEMIA, 2018, 32 (11) :2502-2507
[2]   Clonality in context: hematopoietic clones in their marrow environment [J].
Cooper, James N. ;
Young, Neal S. .
BLOOD, 2017, 130 (22) :2363-2372
[3]   Totipotent stem cells bearing del(20q) maintain multipotential differentiation in Shwachman Diamond syndrome [J].
Crescenzi, Barbara ;
La Starza, Roberta ;
Sambani, Constantina ;
Parcharidou, Agapi ;
Pierini, Valentina ;
Nofrini, Valeria ;
Brandimarte, Lucia ;
Matteucci, Caterina ;
Aversa, Franco ;
Martelli, Massimo Fabrizio ;
Mecucci, Cristina .
BRITISH JOURNAL OF HAEMATOLOGY, 2009, 144 (01) :116-119
[4]   GATA factor mutations in hematologic disease [J].
Crispino, John D. ;
Horwitz, Marshall S. .
BLOOD, 2017, 129 (15) :2103-2110
[5]   The evolution of cellular deficiency in GATA2 mutation [J].
Dickinson, Rachel E. ;
Milne, Paul ;
Jardine, Laura ;
Zandi, Sasan ;
Swierczek, Sabina I. ;
McGovern, Naomi ;
Cookson, Sharon ;
Ferozepurwalla, Zaveyna ;
Langridge, Alexander ;
Pagan, Sarah ;
Gennery, Andrew ;
Heiskanen-Kosma, Tarja ;
Hamalainen, Sari ;
Seppanen, Mikko ;
Helbert, Matthew ;
Tholouli, Eleni ;
Gambineri, Eleonora ;
Reykdal, Sigrun ;
Gottfredsson, Magnus ;
Thaventhiran, James E. ;
Morris, Emma ;
Hirschfield, Gideon ;
Richter, Alex G. ;
Jolles, Stephen ;
Bacon, Chris M. ;
Hambleton, Sophie ;
Haniffa, Muzlifah ;
Bryceson, Yenan ;
Allen, Carl ;
Prchal, Josef T. ;
Dick, John E. ;
Bigley, Venetia ;
Collin, Matthew .
BLOOD, 2014, 123 (06) :863-874
[6]   GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia [J].
Ganapathi, Karthik A. ;
Townsley, Danielle M. ;
Hsu, Amy P. ;
Arthur, Diane C. ;
Zerbe, Christa S. ;
Cuellar-Rodriguez, Jennifer ;
Hickstein, Dennis D. ;
Rosenzweig, Sergio D. ;
Braylan, Raul C. ;
Young, Neal S. ;
Holland, Steven M. ;
Calvo, Katherine R. .
BLOOD, 2015, 125 (01) :56-70
[7]   Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction [J].
Gross, M ;
Hanenberg, H ;
Lobitz, S ;
Friedl, R ;
Herterich, S ;
Dietrich, R ;
Gruhn, B ;
Schindler, D ;
Hoehn, H .
CYTOGENETIC AND GENOME RESEARCH, 2002, 98 (2-3) :126-135
[8]   Pathogenic TERT promoter variants in telomere diseases [J].
Gutierrez-Rodrigues, Fernanda ;
Donaires, Flavia S. ;
Pinto, Andre ;
Vicente, Alana ;
Dillon, Laura W. ;
Cle, Diego V. ;
Santana, Barbara A. ;
Pirooznia, Mehdi ;
Ibanez, Maria del Pilar F. ;
Townsley, Danielle M. ;
Kajigaya, Sachiko ;
Hourigan, Christopher S. ;
Cooper, James N. ;
Calado, Rodrigo T. ;
Young, Neal S. .
GENETICS IN MEDICINE, 2019, 21 (07) :1594-1602
[9]   Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita [J].
Jongmans, Marjolijn C. J. ;
Verwiel, Eugene T. P. ;
Heijdra, Yvonne ;
Vulliamy, Tom ;
Kamping, Eveline J. ;
Hehir-Kwa, Jayne Y. ;
Bongers, Ernie M. H. F. ;
Pfundt, Rolph ;
van Emst, Liesbeth ;
van Leeuwen, Frank N. ;
van Gassen, Koen L. I. ;
van Kessel, Ad Geurts ;
Dokal, Inderjeet ;
Hoogerbrugge, Nicoline ;
Ligtenberg, Marjolijn J. L. ;
Kuiper, Roland P. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 90 (03) :426-433
[10]  
Karczewski K.J., 2019, Nature, DOI [10.1101/531210, DOI 10.1038/S41586-020-2177-0]