Haploinsufficiency for GATA2 causes human immunodeficiency syndromes characterized by mycobacterial infection, myelodysplasia, lymphedema, or aplastic anemia that progress to myeloid leukemia. GATA2 encodes a master regulator of hematopoiesis that is also linked to endothelial biology. Though the disease-causing mutations commonly occur in the GATA-2 DNA binding domain, we identified a patient with mycobacterial infection and myelodysplasia who had an uncharacterized heterozygous deletion in a GATA2cis-element consisting of an E-box and a GATA motif. Targeted deletion of the equivalent murine element to yield homozygous mutant mice revealed embryonic lethality later than occurred with global Gata2 knockout, hematopoietic stem/progenitor cell depletion, and impaired vascular integrity. Heterozygous mutant mice were viable, but embryos exhibited deficits in definitive, but not primitive, hematopoietic stem/progenitor activity and reduced expression of Gata2 and its target genes. Mechanistic analysis revealed disruption of the endothelial cell transcriptome and loss of vascular integrity. Thus, the composite element disrupted in a human immunodeficiency is essential for establishment of the murine hematopoietic stem/progenitor cell compartment in the fetal liver and for essential vascular processes.
Kirby D. Johnson, Amy P. Hsu, Myung-Jeom Ryu, Jinyong Wang, Xin Gao, Meghan E. Boyer, Yangang Liu, Youngsook Lee, Katherine R. Calvo, Sunduz Keles, Jing Zhang, Steven M. Holland, Emery H. Bresnick
Title and authors | Publication | Year |
---|---|---|
Modeling GATA2 deficiency in mice: the R396Q mutation disrupts normal hematopoiesis
Hall T, Mehmood R, Sá da Bandeira D, Cotton A, Klein J, Pruett-Miller SM, Izraeli S, Clements WK, Crispino JD |
Leukemia | 2025 |
Insights into Pediatric GATA2-Related MDS: Unveiling Challenges in Clinical Practice
Marcu AD, Bica AM, Jercan CG, Radu LE, Serbanica AN, Jardan D, Colita A, Dima SO, Tomuleasa C, Tanase AD, Colita A |
Biomedicines | 2025 |
Signaling mechanisms and cis-regulatory control of Samd14 in erythroid regeneration
Hewitt KJ, Roy P, Schaefer MA |
Current opinion in hematology | 2025 |
Pathogenic GATA2 genetic variants utilize an obligate enhancer mechanism to distort a multilineage differentiation program.
Katsumura KR, Liu P, Kim JA, Mehta C, Bresnick EH |
Proceedings of the National Academy of Sciences | 2024 |
PML::RARA and GATA2 proteins interact via DNA templates to induce aberrant self-renewal in mouse and human hematopoietic cells
Katerndahl CD, Rogers OR, Day RB, Xu Z, Helton NM, Ramakrishnan SM, Miller CA, Ley TJ |
Proceedings of the National Academy of Sciences | 2024 |
Functional categorization of gene regulatory variants that cause Mendelian conditions
Cheng YH, Bohaczuk SC, Stergachis AB |
Human Genetics | 2024 |
Oncogenic Enhancers in Leukemia
Mulet-Lazaro R, Delwel R |
Blood Cancer Discovery | 2024 |
Pathogenic Human Variant that Dislocates GATA2 Zinc Fingers Establishes Hematopoiesis-Disrupting Gene Expression and Signaling Networks
Mabel Jung, Siqi Shen, Giovanni Botten, Koichi Katsumura, Alexandra Soukup, Peng Liu, Robert Beagrie, Joel Mackay, Kirby Johnson, Lucy Godley, Jian Xu, Sunduz Keles, Emery Bresnick |
Journal of Clinical Investigation | 2023 |
Distinct and opposite effects of leukemogenic Idh and Tet2 mutations in hematopoietic stem and progenitor cells
Fortin J, Chiang MF, Meydan C, Foox J, Ramachandran P, Leca J, Lemonnier F, Li WY, Gams MS, Sakamoto T, Chu M, Tobin C, Laugesen E, Robinson TM, You-Ten A, Butler DJ, Berger T, Minden MD, Levine RL, Guidos CJ, Melnick AM, Mason CE, Mak TW |
Proceedings of the National Academy of Sciences | 2023 |
The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency
Santiago M, Liquori A, Such E, Zúñiga Á, Cervera J |
Cancers | 2023 |
Restricting genomic actions of innate immune mediators on fetal hematopoietic progenitor cells
Tran VL, Liu P, Katsumura KR, Kim E, Schoff BM, Johnson KD, Bresnick EH |
iScience | 2023 |
Long noncoding RNA GATA2-AS1 augments endothelial hypoxia inducible factor 1-α induction and regulates hypoxic signaling
Man HS, Subramaniam N, Downs T, Sukumar AN, Saha AD, Nair R, Chen L, Teitelbaum D, Turgeon PJ, Ku KH, Tran E, de Perrot M, Marsden PA |
The Journal of biological chemistry | 2023 |
Interferon Regulatory Factor-8-Dependent Innate Immune Alarm Senses GATA2 Deficiency to Alter Hematopoietic Differentiation and Function
Johnson KD, Jung MM, Tran VL, Bresnick EH |
Current Opinion in Hematology | 2023 |
GATA2 Deficiency: Predisposition to Myeloid Malignancy and Hematopoietic Cell Transplantation.
Rajput RV, Arnold DE |
Current Hematologic Malignancy Reports | 2023 |
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Tenney AP, Di Gioia SA, Webb BD, Chan WM, de Boer E, Garnai SJ, Barry BJ, Ray T, Kosicki M, Robson CD, Zhang Z, Collins TE, Gelber A, Pratt BM, Fujiwara Y, Varshney A, Lek M, Warburton PE, Van Ryzin C, Lehky TJ, Zalewski C, King KA, Brewer CC, Thurm A, Snow J, Facio FM, Narisu N, Bonnycastle LL, Swift A, Chines PS, Bell JL, Mohan S, Whitman MC, Staffieri SE, Elder JE, Demer JL, Torres A, Rachid E, Al-Haddad C, Boustany RM, Mackey DA, Brady AF, Fenollar-Cortés M, Fradin M, Kleefstra T, Padberg GW, Raskin S, Sato MT, Orkin SH, Parker SCJ, Hadlock TA, Vissers LELM, van Bokhoven H, Jabs EW, Collins FS, Pennacchio LA, Manoli I, Engle EC |
Nature Genetics | 2023 |
Needle in a haystack or elephant in the room? Identifying germline predisposition syndromes in the setting of a new myeloid malignancy diagnosis.
Reinig EF, Rubinstein JD, Patil AT, Schussman AL, Horner VL, Kanagal-Shamanna R, Churpek JE, Matson DR |
Leukemia | 2023 |
Breaking enhancers to gain insights into developmental defects
Armendariz DA, Sundarrajan A, Hon GC |
eLife | 2023 |
A novel GATA2 distal enhancer mutation results in MonoMAC syndrome in 2 second cousins
West RR, Bauer TR Jr, Tuschong LM, Embree LJ, Calvo KR, Tillo D, Davis J, Holland SM, Hickstein DD |
Blood Advances | 2023 |
Defining a cohort of anemia-activated cis elements reveals a mechanism promoting erythroid precursor function
Zhou Y, Dogiparthi VR, Ray S, Schaefer MA, Harris HL, Rowley MJ, Hewitt KJ |
Blood Advances | 2023 |
From Genotype to Phenotype: How Enhancers Control Gene Expression and Cell Identity in Hematopoiesis
Mulet-Lazaro R, Delwel R |
HemaSphere | 2023 |
Gata2 noncoding genetic variation as a determinant of hematopoietic stem/progenitor cell mobilization efficiency
Soukup AA, Bresnick EH |
Blood Advances | 2023 |
Linking GATA2 to myeloid dysplasia and complex cytogenetics in adult myelodysplastic neoplasm and acute myeloid leukemia
Robbins DJ, Pavletich TS, Patil AT, Pahopos D, Lasarev M, Polaki US, Gahvari ZJ, Bresnick EH, Matson DR |
Blood Advances | 2023 |
Transcription factors regulating vasculogenesis and angiogenesis
Payne S, Neal A, De Val S |
Developmental Dynamics | 2023 |
Developmental disorders caused by haploinsufficiency of transcriptional regulators: a perspective based on cell fate determination
R Zug |
Biology Open | 2022 |
Gata2 +9.5 enhancer regulates adult hematopoietic stem cell self-renewal and T-cell development
X You, Y Zhou, Y Chang, G Kong, E Ranheim, K Johnson, A Soukup, E Bresnick, J Zhang |
Blood Advances | 2022 |
GATA2 deficiency elevates interferon regulatory factor-8 to subvert a progenitor cell differentiation program
K Johnson, A Soukup, E Bresnick |
Blood Advances | 2022 |
GATA 2 Deficiency: Focus on Immune System Impairment
Fabozzi F, Mastronuzzi A, Ceglie G, Masetti R, Leardini D |
Frontiers in immunology | 2022 |
Erythroid Cell Research: 3D Chromatin, Transcription Factors and Beyond
Andrieu-Soler C, Soler E |
International journal of molecular sciences | 2022 |
Endothelial Cell GATA2 Modulates the Cardiomyocyte Stress Response through the Regulation of Two Long Non-Coding RNAs
Froese N, Szaroszyk M, Korf-Klingebiel M, Koch K, Schmitto JD, Geffers R, Hilfiker-Kleiner D, Riehle C, Wollert KC, Bauersachs J, Heineke J |
Biology | 2022 |
GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects.
Kotmayer L, Romero-Moya D, Marin-Bejar O, Kozyra E, Català A, Bigas A, Wlodarski MW, Bödör C, Giorgetti A |
British Journal of Haematology | 2022 |
The spectrum of GATA2 deficiency syndrome
Calvo KR, Hickstein DD |
Blood | 2022 |
Tumor suppressor function of Gata2 in acute promyelocytic leukemia
CD Katerndahl, OR Rogers, RB Day, MA Cai, TP Rooney, NM Helton, M Hoock, SM Ramakrishnan, SN Srivatsan, LD Wartman, CA Miller, TJ Ley |
Blood | 2021 |
Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance
C Oleaga-Quintas, EB de Oliveira-Júnior, J Rosain, F Rapaport, C Deswarte, A Guérin, SM Sajjath, YJ Zhou, S Marot, C Lozano, L Branco, N Fernández-Hidalgo, DB Lew, AS Brunel, C Thomas, E Launay, AA Arias, A Cuffel, VC Monjo, AL Neehus, L Marques, M Roynard, M Moncada-Vélez, B Gerçeker, R Colobran, MG Vigué, G Lopez-Herrera, L Berron-Ruiz, NH Méndez, PO Romanillos, TL Voyer, A Puel, C Bellanné-Chantelot, KA Ramirez, L Lorenzo-Diaz, NR Alejo, RP de Diego, A Condino-Neto, F Mellouli, C Rodriguez-Gallego, T Witte, JF Restrepo, M Jobim, S Boisson-Dupuis, E Jeziorski, C Fieschi, G Vogt, J Donadieu, M Pasquet, J Vasconcelos, FO Ardeniz, M Martínez-Gallo, RA Campos, LF Jobim, R Martínez-Barricarte, K Liu, A Cobat, L Abel, JL Casanova, J Bustamante |
Journal of Clinical Immunology | 2021 |
Gata2 heterozygous mutant mice exhibit reduced inflammatory responses and impaired bacterial clearance
J Takai, T Shimada, T Nakamura, JD Engel, T Moriguchi |
iScience | 2021 |
GATA2 deficiency syndrome: A decade of discovery
CC Homan, P Venugopal, P Arts, NH Shahrin, S Feurstein, L Rawlings, DM Lawrence, J Andrews, SL KingSmith, NL Harvey, AL Brown, HS Scott, CN Hahn |
Human Mutation | 2021 |
Conditionally pathogenic genetic variants of a hematopoietic disease–suppressing enhancer
AA Soukup, DR Matson, P Liu, KD Johnson, EH Bresnick |
Science Advances | 2021 |
miR‐181c regulates MCL1 and cell survival in GATA2 deficient cells
W Wang, R Chen, S Droll, E Barber, L Saleh, M CorriganCummins, M Trick, V Anastas, NV Hawk, Z Zhao, DC Vinh, A Hsu, DD Hickstein, SM Holland, KR Calvo |
Journal of leukocyte biology | 2021 |
Gata2-L359V impairs primitive and definitive hematopoiesis and blocks cell differentiation in murine chronic myelogenous leukemia model
YK Fu, Y Tan, B Wu, YT Dai, XG Xu, MM Pan, ZW Chen, N Qiao, J Wu, L Jiang, J Lu, B Chen, A Rein, S Izraeli, XJ Sun, JY Huang, QH Huang, Z Chen, SJ Chen |
Cell Death and Disease | 2021 |
Gynecologic manifestations in Emberger syndrome
H Yüksel, E Zafer |
Journal of Turkish Society of Obstetric and Gynecology | 2021 |
A Nationwide Study of GATA2 Deficiency in Norway—the Majority of Patients Have Undergone Allo-HSCT
SF Jørgensen, J Buechner, AE Myhre, E Galteland, S Spetalen, MA Kulseth, HS Sorte, ØL Holla, E Lundman, C Alme, I Heier, T Flægstad, Y Fløisand, A Benneche, B Fevang, P Aukrust, A Stray-Pedersen, T Gedde-Dahl, I Nordøy |
Journal of Clinical Immunology | 2021 |
Gata2 haploinsufficiency promotes proliferation and functional decline of hematopoietic stem cells with myeloid bias during aging
A Abdelfattah, A Hughes-Davies, L Clayfield, J Menendez-Gonzalez, A Almotiri, B Alotaibi, A Tonks, N Rodrigues |
Blood Advances | 2021 |
Human GATA2 mutations and hematologic disease: how many paths to pathogenesis?
EH Bresnick, MM Jung, KR Katsumura |
Blood Advances | 2020 |
Efferocytic Defects in Early Atherosclerosis Are Driven by GATA2 Overexpression in Macrophages
C Yin, AM Vrieze, M Rosoga, J Akingbasote, EN Pawlak, RA Jacob, J Hu, N Sharma, JD Dikeakos, L Barra, AD Nagpal, B Heit |
Frontiers in immunology | 2020 |
Sterile α-motif domain requirement for cellular signaling and survival
S Ray, L Chee, DR Matson, NY Palermo, EH Bresnick, KJ Hewitt |
The Journal of biological chemistry | 2020 |
A splicing factor switch controls hematopoietic lineage specification of pluripotent stem cells
Y Li, D Wang, H Wang, X Huang, Y Wen, BR Wang, C Xu, J Gao, J Liu, J Tong, M Wang, P Su, S Ren, F Ma, HD Li, EH Bresnick, J Zhou, L Shi |
EMBO reports | 2020 |
GATA2 Related Conditions and Predisposition to Pediatric Myelodysplastic Syndromes
A Bruzzese, D Leardini, R Masetti, L Strocchio, K Girardi, M Algeri, GD Baldo, F Locatelli, A Mastronuzzi |
Cancers | 2020 |
GATA2 +9.5 enhancer: from principles of hematopoiesis to genetic diagnosis in precision medicine
AA Soukup, EH Bresnick |
Current Opinion in Hematology | 2020 |
Liganded T3 receptor β2 inhibits the positive feedback autoregulation of the gene for GATA2, a transcription factor critical for thyrotropin production
N Hirahara, HM Nakamura, S Sasaki, A Matsushita, K Ohba, G Kuroda, Y Sakai, S Shinkai, H Haeno, T Nishio, S Yoshida, Y Oki, T Suda, H Ariga |
PloS one | 2020 |
Constructing and deconstructing GATA2-regulated cell fate programs to establish developmental trajectories
KD Johnson, DJ Conn, E Shishkova, KR Katsumura, P Liu, S Shen, EA Ranheim, SG Kraus, W Wang, KR Calvo, AP Hsu, SM Holland, JJ Coon, S Keles, EH Bresnick |
Journal of Experimental Medicine | 2020 |
Dynamic regulation of GATA2 in fate determination in hematopoiesis: possible approach to hPSC-derived hematopoietic stem/progenitor cells
Y Zhou, B Mao, Y Chen, Y Xue, B Chen, Y Zhang, F Ma |
2020 | |
GATA2 and Progesterone Receptor Interaction in Endometrial Stromal Cells Undergoing Decidualization
A Kohlmeier, CA Sison, BD Yilmaz, JS V, MT Dyson, SE Bulun |
Endocrinology | 2020 |
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
A Rio-Machin, T Vulliamy, N Hug, A Walne, K Tawana, S Cardoso, A Ellison, N Pontikos, J Wang, H Tummala, AF Seraihi, J Alnajar, F Bewicke-Copley, H Armes, M Barnett, A Bloor, C Bödör, D Bowen, P Fenaux, A Green, A Hallahan, H Hjorth-Hansen, U Hossain, S Killick, S Lawson, M Layton, AM Male, J Marsh, P Mehta, R Mous, JF Nomdedéu, C Owen, J Pavlu, EM Payne, RE Protheroe, C Preudhomme, N Pujol-Moix, A Renneville, N Russell, A Saggar, G Sciuccati, D Taussig, CL Toze, A Uyttebroeck, P Vandenberghe, B Schlegelberger, T Ripperger, D Steinemann, J Wu, J Mason, P Page, S Akiki, K Reay, JD Cavenagh, V Plagnol, JF Caceres, J Fitzgibbon, I Dokal |
Nature Communications | 2020 |
Deletion of a conserved Gata2 enhancer impairs haemogenic endothelium programming and adult Zebrafish haematopoiesis
T Dobrzycki, CB Mahony, M Krecsmarik, C Koyunlar, R Rispoli, J Peulen-Zink, K Gussinklo, B Fedlaoui, E de Pater, R Patient, R Monteiro |
2020 | |
Interleukin-33 Signaling Controls the Development of Iron-Recycling Macrophages
Y Lu, G Basatemur, IC Scott, D Chiarugi, M Clement, J Harrison, R Jugdaohsingh, X Yu, SA Newland, HE Jolin, X Li, X Chen, M Szymanska, G Haraldsen, G Palmer, PG Fallon, ES Cohen, AN McKenzie, Z Mallat |
Immunity | 2020 |
Comparison of Outcomes of Myeloablative Allogeneic Stem Cell Transplantation for Pediatric Patients with Bone Marrow Failure, Myelodysplastic Syndrome and Acute Myeloid Leukemia with and without Germline GATA2 Mutations
I Hofmann, S Avagyan, A Stetson, D Guo, H Al-Sayegh, WB London, L Lehmann |
Biology of Blood and Marrow Transplantation | 2020 |
Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA)
AL Brown, CN Hahn, HS Scott |
Blood | 2020 |
Germline GATA2 variant disrupting endothelial eNOS cell function and angiogenesis can be restored by c-Jun/AP-1 upregulation
G Purgatorio, E Piselli, G Guglielmini, E Falcinelli, L Bury, VD Battista, F Pellanera, F Milano, C Matteucci, C Mecucci, P Gresele |
Haematologica | 2020 |
Transcription Factor Mutations as a Cause of Familial Myeloid Neoplasms
Jane Churpek, Emery Bresnick |
Journal of Clinical Investigation | 2019 |
Single-Nucleotide Human Disease Mutation Inactivates a Blood-Regenerative GATA2 Enhancer
Alexandra A. Soukup, Ye Zheng, Charu Mehta, Jun Wu, Peng Liu, Miao Cao, Inga Hofmann, Yun Zhou, Jing Zhang, Kirby D. Johnson, Kyunghee Choi, Sunduz Keles, Emery H. Bresnick |
Journal of Clinical Investigation | 2019 |
cis Elements that Mediate RNA Polymerase II Pausing Regulate Human Gene Expression
JA Watts, J Burdick, J Daigneault, Z Zhu, C Grunseich, A Bruzel, VG Cheung |
The American Journal of Human Genetics | 2019 |
Chromatin occupancy and epigenetic analysis reveal new insights into the function of the GATA1 N terminus in erythropoiesis
T Ling, Y Birger, MJ Stankiewicz, N Ben-Haim, T Kalisky, A Rein, E Kugler, W Chen, C Fu, K Zhang, H Patel, JW Sikora, YA Goo, N Kelleher, L Zou, S Izraeli, JD Crispino |
Blood | 2019 |
Induction of developmental hematopoiesis mediated by transcription factors and the hematopoietic microenvironment
MG Daniel, K Rapp, C Schaniel, KA Moore |
Annals of the New York Academy of Sciences | 2019 |
Valves Are a Conserved Feature of the Zebrafish Lymphatic System
M Shin, T Nozaki, F Idrizi, S Isogai, K Ogasawara, K Ishida, S Yuge, B Roscoe, SA Wolfe, S Fukuhara, N Mochizuki, T Deguchi, ND Lawson |
Developmental Cell | 2019 |
Blood disease–causing and –suppressing transcriptional enhancers: general principles and GATA2 mechanisms
EH Bresnick, KD Johnson |
Blood Advances | 2019 |
Establishment and maintenance of blood–lymph separation
HP Janardhan, CM Trivedi |
Cellular and Molecular Life Sciences | 2019 |
GATA2 Promotes Hematopoietic Development and Represses Cardiac Differentiation of Human Mesoderm
J Castaño, S Aranda, C Bueno, FJ Calero-Nieto, E Mejia-Ramirez, JL Mosquera, E Blanco, X Wang, C Prieto, L Zabaleta, E Mereu, M Rovira, S Jiménez-Delgado, DR Matson, H Heyn, EH Bresnick, B Göttgens, LD Croce, P Menendez, A Raya, A Giorgetti |
Stem Cell Reports | 2019 |
Mechanisms of erythrocyte development and regeneration: implications for regenerative medicine and beyond
EH Bresnick, KJ Hewitt, C Mehta, S Keles, RF Paulson, KD Johnson |
Development (Cambridge, England) | 2018 |
Bacille Calmette–Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010–2017
C de Jesus Nunes-Santos, SD Rosenzweig |
Frontiers in immunology | 2018 |
Germline GATA2 Mutation and Bone Marrow Failure
LJ McReynolds, KR Calvo, SM Holland |
Hematology/Oncology Clinics of North America | 2018 |
Ultraconserved Enhancers Are Required for Normal Development
DE Dickel, AR Ypsilanti, R Pla, Y Zhu, I Barozzi, BJ Mannion, YS Khin, Y Fukuda-Yuzawa, I Plajzer-Frick, CS Pickle, EA Lee, AN Harrington, QT Pham, TH Garvin, M Kato, M Osterwalder, JA Akiyama, V Afzal, JL Rubenstein, LA Pennacchio, A Visel |
Cell | 2018 |
Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency
N Hernandez, I Melki, H Jing, T Habib, SS Huang, J Danielson, T Kula, S Drutman, S Belkaya, V Rattina, L Lorenzo-Diaz, A Boulai, Y Rose, N Kitabayashi, MP Rodero, C Dumaine, S Blanche, MN Lebras, MC Leung, LS Mathew, B Boisson, SY Zhang, S Boisson-Dupuis, S Giliani, D Chaussabel, LD Notarangelo, SJ Elledge, MJ Ciancanelli, L Abel, Q Zhang, N Marr, YJ Crow, HC Su, JL Casanova |
Journal of Experimental Medicine | 2018 |
Human leukemia mutations corrupt but do not abrogate GATA-2 function
KR Katsumura, C Mehta, KJ Hewitt, AA Soukup, IF de Andrade, EA Ranheim, KD Johnson, EH Bresnick |
Proceedings of the National Academy of Sciences | 2018 |
Hdac3 regulates lymphovenous and lymphatic valve formation
Harish Janardhan, Zachary Milstone, Masahiro Shin, Nathan Lawson, John Keaney, Chinmay Trivedi |
Journal of Clinical Investigation | 2017 |
Integrating Enhancer Mechanisms to Establish a Hierarchical Blood Development Program
C Mehta, KD Johnson, X Gao, IM Ong, KR Katsumura, SC McIver, EA Ranheim, EH Bresnick |
Cell Reports | 2017 |
GATA factor mutations in hematologic disease
JD Crispino, MS Horwitz |
Blood | 2017 |
Acquired Senescent T-Cell Phenotype Correlates with Clinical Severity in GATA Binding Protein 2-Deficient Patients
R Ruiz-García, C Rodríguez-Vigil, FM Marco, F Gallego-Bustos, MJ Castro-Panete, L Diez-Alonso, C Muñoz-Ruiz, J Ruiz-Contreras, E Paz-Artal, LI González-Granado, LM Allende |
Frontiers in immunology | 2017 |
GATA Factor-Regulated Samd14 Enhancer Confers Red Blood Cell Regeneration and Survival in Severe Anemia
KJ Hewitt, KR Katsumura, DR Matson, P Devadas, N Tanimura, AS Hebert, JJ Coon, JS Kim, CN Dewey, S Keles, S Hao, RF Paulson, EH Bresnick |
Developmental Cell | 2017 |
The GATA factor revolution in hematology
KR Katsumura, EH Bresnick |
Blood | 2017 |
Heterogeneity of GATA2-related myeloid neoplasms
S Hirabayashi, MW Wlodarski, E Kozyra, CM Niemeyer |
International Journal of Hematology | 2017 |
Integrating microRNA and messenger RNA expression profiles in a rat model of deep vein thrombosis
QQ Jin, JH Sun, QX Du, XJ Lu, XY Zhu, HL Fan, C Hï½lscher, YY Wang |
International journal of molecular medicine | 2017 |
Hormone dependent uterine epithelial-stromal communication for pregnancy support
X Wang, SP Wu, FJ DeMayo |
Placenta | 2017 |
Aberrant GATA2 epigenetic dysregulation induces a GATA2/GATA6 switch in human gastric cancer
SH Song, MS Jeon, JW Nam, JK Kang, YJ Lee, JY Kang, HP Kim, SW Han, GH Kang, TY Kim |
Oncogene | 2017 |
A Gata2-Dependent Transcription Network Regulates Uterine Progesterone Responsiveness and Endometrial Function
CA Rubel, SP Wu, L Lin, T Wang, RB Lanz, X Li, R Kommagani, HL Franco, SA Camper, Q Tong, JW Jeong, JP Lydon, FJ DeMayo |
Cell Reports | 2016 |
Current Topics in Developmental Biology
KJ Hewitt, KD Johnson, X Gao, S Keles, EH Bresnick |
Current topics in developmental biology | 2016 |
Functional and molecular characterization of mouse Gata2-independent hematopoietic progenitors
P Kaimakis, E Pater, C Eich, PS Kartalaei, ML Kauts, CS Vink, R der Linden, M Jaegle, T Yokomizo, D Meijer, E Dzierzak |
Blood | 2016 |
GATA Factor-G-Protein-Coupled Receptor Circuit Suppresses Hematopoiesis
X Gao, T Wu, KD Johnson, JL Lahvic, EA Ranheim, LI Zon, EH Bresnick |
Stem Cell Reports | 2016 |
GATA Factor-Dependent Positive-Feedback Circuit in Acute Myeloid Leukemia Cells
KR Katsumura, IM Ong, AW DeVilbiss, R Sanalkumar, EH Bresnick |
Cell Reports | 2016 |
Gata2 Is a Rheostat for Mesenchymal Stem Cell Fate in Male Mice
X Li, HD Huynh, H Zuo, M Salminen, Y Wan |
Endocrinology | 2016 |
A MAD-Bayes Algorithm for State-Space Inference and Clustering with Application to Querying Large Collections of ChIP-Seq Data Sets
C Zuo, K Chen, S Keleş |
Journal of Computational Biology | 2016 |
A hierarchical framework for state-space matrix inference and clustering
C Zuo, K Chen, KJ Hewitt, EH Bresnick, S Keleş |
The Annals of Applied Statistics | 2016 |
Lymphatic vessel development: fluid flow and valve-forming cells
Tsutomu Kume |
Journal of Clinical Investigation | 2015 |
GATA2 is required for lymphatic vessel valve development and maintenance
Jan Kazenwadel, Kelly Betterman, Chan-Eng Chong, Philippa Stokes, Young Lee, Genevieve Secker, Yan Agalarov, Cansaran Saygili Demir, David Lawrence, Drew Sutton, Sebastien Tabruyn, Naoyuki Miura, Marjo Salminen, Tatiana Petrova, Jacqueline M. Matthews, Christopher Hahn, Hamish Scott, Natasha Harvey |
Journal of Clinical Investigation | 2015 |
GATA2 deficiency:
AP Hsu, LJ McReynolds, SM Holland |
Current Opinion in Allergy and Clinical Immunology | 2015 |
Mechanism governing heme synthesis reveals a GATA factor/heme circuit that controls differentiation
N Tanimura, E Miller, K Igarashi, D Yang, JN Burstyn, CN Dewey, EH Bresnick |
EMBO reports | 2015 |
Haematopoietic and immune defects associated with GATA2 mutation
M Collin, R Dickinson, V Bigley |
British Journal of Haematology | 2015 |
Gata2b is a restricted early regulator of hemogenic endothelium in the zebrafish embryo
E Butko, M Distel, C Pouget, B Weijts, I Kobayashi, K Ng, C Mosimann, FE Poulain, A McPherson, CW Ni, DL Stachura, ND Cid, R Espin-Palazon, ND Lawson, R Dorsky, WK Clements, D Traver |
Development (Cambridge, England) | 2015 |
Epigenetic Determinants of Erythropoiesis: Role of the Histone Methyltransferase SetD8 in Promoting Erythroid Cell Maturation and Survival
AW DeVilbiss, R Sanalkumar, BD Hall, KR Katsumura, IF de Andrade, EH Bresnick |
Molecular and cellular biology | 2015 |
Cis-regulatory mechanisms governing stem and progenitor cell transitions
KD Johnson, G Kong, X Gao, YI Chang, KJ Hewitt, R Sanalkumar, R Prathibha, EA Ranheim, CN Dewey, J Zhang, EH Bresnick |
Science Advances | 2015 |
Genome-wide analyses identify KLF4 as an important negative regulator in T-cell acute lymphoblastic leukemia through directly inhibiting T-cell associated genes
W Li, Z Jiang, T Li, X Wei, Y Zheng, D Wu, L Yang, S Chen, B Xu, M Zhong, J Jiang, Y Hu, H Su, M Zhang, X Huang, S Geng, J Weng, X Du, P Liu, Y Li, H Liu, Y Yao, P Li |
Molecular Cancer | 2015 |
Hematopoietic Signaling Mechanism Revealed from a Stem/Progenitor Cell Cistrome
KJ Hewitt, DH Kim, P Devadas, R Prathibha, C Zuo, R Sanalkumar, KD Johnson, YA Kang, JS Kim, CN Dewey, S Keles, EH Bresnick |
Molecular Cell | 2015 |
Histone Methyltransferase Setd8 Represses Gata2 Expression and Regulates Erythroid Maturation
J Malik, M Getman, LA Steiner |
Molecular and cellular biology | 2015 |
Malat1 as an evolutionarily conserved lncRNA, plays a positive role in regulating proliferation and maintaining undifferentiated status of early-stage hematopoietic cells
XY Ma, JH Wang, JL Wang, CX Ma, XC Wang, FS Liu |
BMC Genomics | 2015 |
BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis
MC Canver, EC Smith, F Sher, L Pinello, NE Sanjana, O Shalem, DD Chen, PG Schupp, DS Vinjamur, SP Garcia, S Luc, R Kurita, Y Nakamura, Y Fujiwara, T Maeda, GC Yuan, F Zhang, SH Orkin, DE Bauer |
Nature | 2015 |
High-Throughput siRNA Screening to Reveal GATA-2 Upstream Transcriptional Mechanisms in Hematopoietic Cells
Y Saito, T Fujiwara, K Ohashi, Y Okitsu, N Fukuhara, Y Onishi, K Ishizawa, H Harigae, T Akagi |
PloS one | 2015 |
New developments in clinical aspects of lymphatic disease
Peter Mortimer, Stanley G. Rockson |
Journal of Clinical Investigation | 2014 |
A Remote GATA2 Hematopoietic Enhancer Drives Leukemogenesis in inv(3)(q21;q26) by Activating EVI1 Expression
H Yamazaki, M Suzuki, A Otsuki, R Shimizu, EH Bresnick, JD Engel, M Yamamoto |
Cancer Cell | 2014 |
A regulatory network governing Gata1 and Gata2 gene transcription orchestrates erythroid lineage differentiation
T Moriguchi, M Yamamoto |
International Journal of Hematology | 2014 |
Epigenetic and genetic mechanisms in red cell biology:
KJ Hewitt, R Sanalkumar, KD Johnson, S Keles, EH Bresnick |
Current Opinion in Hematology | 2014 |
Mechanism governing a stem cell-generating cis-regulatory element
R Sanalkumar, KD Johnson, X Gao, ME Boyer, YI Chang, KJ Hewitt, J Zhang, EH Bresnick |
Proceedings of the National Academy of Sciences | 2014 |
Molecular basis of crosstalk between oncogenic Ras and the master regulator of hematopoiesis GATA-2
KR Katsumura, C Yang, ME Boyer, L Li, EH Bresnick |
EMBO reports | 2014 |
Hematopoietic transcriptional mechanisms: From locus-specific to genome-wide vantage points
AW DeVilbiss, R Sanalkumar, KD Johnson, S Keles, EH Bresnick |
Experimental Hematology | 2014 |
GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia
KA Ganapathi, DM Townsley, AP Hsu, DC Arthur, CS Zerbe, J Cuellar-Rodriguez, DD Hickstein, SD Rosenzweig, RC Braylan, NS Young, SM Holland, KR Calvo |
Blood | 2014 |
Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation
RR West, AP Hsu, SM Holland, J Cuellar-Rodriguez, DD Hickstein |
Haematologica | 2013 |
GATA2 and Lmo2 control angiogenesis and lymphangiogenesis via direct transcriptional regulation of neuropilin-2
S Coma, M Allard-Ratick, T Akino, LA Meeteren, A Mammoto, M Klagsbrun |
Angiogenesis | 2013 |
The cup runneth over: lessons from the ever-expanding pool of primary immunodeficiency diseases
JD Milner, SM Holland |
Nature Reviews Immunology | 2013 |
Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset
EM Mace, AP Hsu, L Monaco-Shawver, G Makedonas, JB Rosen, L Dropulic, JI Cohen, EP Frenkel, JC Bagwell, JL Sullivan, CA Biron, C Spalding, CS Zerbe, G Uzel, SM Holland, JS Orange |
Blood | 2013 |
GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome
AP Hsu, KD Johnson, EL Falcone, R Sanalkumar, L Sanchez, DD Hickstein, J Cuellar-Rodriguez, JE Lemieux, CS Zerbe, EH Bresnick, SM Holland |
Blood | 2013 |
Gata2 is required for HSC generation and survival
E Pater, P Kaimakis, CS Vink, T Yokomizo, T Yamada-Inagawa, R der Linden, PS Kartalaei, SA Camper, N Speck, E Dzierzak |
Journal of Experimental Medicine | 2013 |
Gata2 cis-element is required for hematopoietic stem cell generation in the mammalian embryo
X Gao, KD Johnson, YI Chang, ME Boyer, CN Dewey, J Zhang, EH Bresnick |
Journal of Experimental Medicine | 2013 |
The evolution of cellular deficiency in GATA2 mutation
RE Dickinson, P Milne, L Jardine, S Zandi, SI Swierczek, N McGovern, S Cookson, Z Ferozepurwalla, A Langridge, S Pagan, A Gennery, T Heiskanen-Kosma, S Hamalainen, M Seppanen, M Helbert, E Tholouli, E Gambineri, S Reykdal, M Gottfrethsson, JE Thaventhiran, E Morris, G Hirschfield, AG Richter, S Jolles, CM Bacon, S Hambleton, M Haniffa, Y Bryceson, C Allen, JT Prchal, JE Dick, V Bigley, M Collin |
Blood | 2013 |
Transcriptional Mechanisms Underlying Hemoglobin Synthesis
KR Katsumura, AW DeVilbiss, NJ Pope, KD Johnson, EH Bresnick |
Cold Spring Harbor Perspectives in Medicine | 2013 |
Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism
AP Hsu, KJ Sowerwine, MG Lawrence, J Davis, CJ Henderson, KA Zarember, M Garofalo, JI Gallin, DB Kuhns, T Heller, JD Milner, JM Puck, AF Freeman, SM Holland |
Journal of Allergy and Clinical Immunology | 2013 |
GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity
MA Spinner, LA Sanchez, AP Hsu, PA Shaw, CS Zerbe, KR Calvo, DC Arthur, W Gu, CM Gould, CC Brewer, EW Cowen, AF Freeman, KN Olivier, G Uzel, AM Zelazny, JR Daub, CD Spalding, RJ Claypool, NK Giri, BP Alter, EM Mace, JS Orange, J Cuellar-Rodriguez, DD Hickstein, SM Holland |
Blood | 2013 |
Establishment of a cell-type-specific genetic network by the mediator complex component Med1
NJ Pope, EH Bresnick |
Molecular and cellular biology | 2013 |