The goal of the Orkin laboratory is to understand how commitment to specific blood lineages is programmed and how cell-specific patterns of gene expression are established. Since gene expression is controlled by nuclear regulatory factors (transcription factors), efforts have centered on identifying those crucial for development of stem cells or individual lineages. Research encompasses conventional molecular biology and contemporary mouse genetics in three focus areas:
Lineage specification and hematopoietic differentiation
Red blood cells and megakaryocytes (which produce platelets) share a common precursor cell. They discovered a transcription factor, GATA-1, that participates in the regulation of virtually all red cell (erythroid) and megakaryocyte-specific expressed genes. Expression of GATA-1 in progenitors drives cells toward erythroid and megakaryocytic fates. Disruption of the GATA-1 gene in mice leads to a failure of maturation of both lineages. In addition to controlling end-stage markers of these lineages, GATA-1 influences proliferation and cell death decisions of precursor cells. Using this mouse model to dissect mechanisms of cell differentiation, Orkin and colleagues have sought to understand how GATA-1 functions in transcription. This line of investigation led us to hypothesize and then discover a cofactor required for GATA-1's function in these lineages. This novel cofactor, FOG (for friend of GATA-1), is also essential for normal red blood cell and megakaryocyte development. Current research focuses on how FOG modulates the function of GATA-1, how others factors (eg Gfi-1b) cooperate in differentiation, and the discovery of protein partners of these key regulators of development.
Hematopoiesis-leukemia interface
Remarkably, many genes essential for normal hematopoietic development are involved in chromosomal translocations in human leukemias. This finding reflects perturbation of normal homeostasis by expression of an altered protein or excessive production of an otherwise normal factor. The Orkin lab is studying several transcription factors (e.g. SCL/tal-1, TEL, and GATA-1) affected by genetic events in leukemias. Of particular interest are infant leukemia of the megakaryoblastic variety occurring in the setting of Down syndrome and somatic mutation of GATA-1 and childhood TEL-AML B-cell ALL.
Modeling the first steps in human cancer in the mouse
In an effort to improve models of human cancers the laboratory is generating gene targeted mice with conditional mutations that replicate the first steps in selected human cancers. For example, mice have been created that conditionally express the TEL-Ntrk fusion gene characteristic of one form of breast cancer. These mice develop invasive breast cancer with full penetrance and a consistent time-course. These mice are being used to explore the step-wise pathogenesis of breast cancer and the potential role of cancer stem cells.
Stem cell biology
Stem cells provide for production of specific cell lineages during development and throughout adult life. Dr. Orkin and colleagues are focusing efforts on characterization of the genes required for hematopoietic stem self-renewal and survival, as well as genes within embryonic stem cells that maintain pluripotency. Characterization of the molecular underpinnings of stem cell functions will have broad implications for cellular development and cancer.
Research Background
Dr. Orkin received his MD in 1972 from Harvard Medical School, followed by postdoctoral research at the National Institutes of Health and clinical training in pediatrics and hematology-oncology at Children's Hospital Boston and DFCI, where he joined the faculty in 1978. Dr. Orkin is a Howard Hughes Medical Institute Investigator and was elected to the 2019-2020 Council of the National Academy of Medicine. Over the past decade, his laboratory has defined critical nuclear regulators of hematopoiesis.
Awards/Honors
Shaw Prize in Life Science and Medicine, 2024, shared with Swee Lay Thein, FRCP FMedSci of the National Heart, Lung, and Blood Institute.
Member, Council of the National Academy of Medicine, 2019-2020
Harrington Prize for Innovation in Medicine, American Society for Clinical Investigation and Harrington Discovery Institute, 2020
King Faisal International Prize for Medicine, King Faisal Foundation, 2020
Mechthild Esser Nemmers Prize in Medical Science, Northwestern University, 2018
George M. Kober Medal, American Association of Physicians, 2018
Clotten Foundation Prize, 2017
Member, American Philosophical Society, 2017
Lifetime Impact award, Boston Children’s Hospital’s Global Pediatric Innovation Summit, 2015
William A. Allan Award, American Society for Human Genetics, 2014
Jessie Stevenson Kovalenko Medal, National Academy of Sciences, 2013
Donald Metcalf Award, International Society of Experimental Hematology, 2012
Basic Science Mentor Award, American Society of Hematology, 2009
Legends in Hematology, American Society of Hematology, 2008
AAMC Award for Distinguished Research in Medical Sciences, 2005
Frank Oski Award, American Society of Pediatric Hematology and Oncology, 2003
E. Donnell Thomas Prize, American Society of Hematology, 1998
Helmut Horten Research Award, 1995
Warren Alpert Foundation Prize, 1993
Member, American Academy of Arts and Sciences, 1993
Member, Institute of Medicine, 1992
Member, National Academy of Sciences, 1991
E. Mead Johnson Award, Society for Pediatric Research, 1987
William Dameshek Prize, American Society of Hematology, 1986
Research Career Development Award, National Institutes of Health, 1979
Young Investigator Award, National Institutes of Health, 1976
Gene therapy for sickle cell disease: The journey to a new treatment
Publications
Redirecting E3 ubiquitin ligases for targeted protein degradation with heterologous recognition domains. J Biol Chem. 2025 Jan; 301(1):108077. View Abstract
Gene editing without ex vivo culture evades genotoxicity in human hematopoietic stem cells. Cell Stem Cell. 2024 Dec 11. View Abstract
A tetramer of BCL11A is required for stable protein production and fetal hemoglobin silencing. Science. 2024 Nov 29; 386(6725):1010-1018. View Abstract
Structural insights into the DNA-binding mechanism of BCL11A: The integral role of ZnF6. Structure. 2024 Dec 05; 32(12):2276-2286.e4. View Abstract
The epigenetic state of the cell of origin defines mechanisms of leukemogenesis. Leukemia. 2025 Jan; 39(1):87-97. View Abstract
Mechanistic and kinetic insights into transcription factor biology via acute protein depletion. Exp Hematol. 2024 Sep; 137:104250. View Abstract
Matrin3 mediates differentiation through stabilizing chromatin loop-domain interactions and YY1 mediated enhancer-promoter interactions. Nat Commun. 2024 Feb 10; 15(1):1274. View Abstract
Structural Insights into the DNA-Binding Mechanism of BCL11A: The Integral Role of ZnF6. bioRxiv. 2024 Jan 19. View Abstract
Transcriptional Repressor BCL11A in Erythroid Cells. Adv Exp Med Biol. 2024; 1459:199-215. View Abstract
Role of PDGFRA+ cells and a CD55+ PDGFRALo fraction in the gastric mesenchymal niche. Nat Commun. 2023 Dec 02; 14(1):7978. View Abstract
Identifying quantitatively differential chromosomal compartmentalization changes and their biological significance from Hi-C data using DARIC. BMC Genomics. 2023 Oct 13; 24(1):614. View Abstract
In vivo CRISPR/Cas9 screening identifies Pbrm1 as a regulator of myeloid leukemia development in mice. Blood Adv. 2023 09 26; 7(18):5281-5293. View Abstract
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. Nat Genet. 2023 07; 55(7):1149-1163. View Abstract
Identifying Quantitatively Differential Chromosomal Compartmentalization Changes and Their Biological Significance from Hi-C data using DARIC. Res Sq. 2023 Apr 28. View Abstract
Rapid-kinetics degron benchmarking reveals off-target activities and mixed agonism-antagonism of MYB inhibitors. bioRxiv. 2023 Apr 07. View Abstract
Fetal Hemoglobin Regulation in Beta-Thalassemia. Hematol Oncol Clin North Am. 2023 04; 37(2):301-312. View Abstract
Leukemia core transcriptional circuitry is a sparsely interconnected hierarchy stabilized by incoherent feed-forward loops. bioRxiv. 2023 Mar 15. View Abstract
Defining the structure, signals, and cellular elements of the gastric mesenchymal niche. bioRxiv. 2023 Feb 24. View Abstract
Polycomb deficiency drives a FOXP2-high aggressive state targetable by epigenetic inhibitors. Nat Commun. 2023 01 20; 14(1):336. View Abstract
Evolution of nanobodies specific for BCL11A. Proc Natl Acad Sci U S A. 2023 01 17; 120(3):e2218959120. View Abstract
A Cell-Permeant Nanobody-Based Degrader That Induces Fetal Hemoglobin. ACS Cent Sci. 2022 Dec 28; 8(12):1695-1703. View Abstract
High-efficiency knock-in of degradable tags (dTAG) at endogenous loci in cell lines. Methods Enzymol. 2023; 681:1-22. View Abstract
Temporal resolution of gene derepression and proteome changes upon PROTAC-mediated degradation of BCL11A protein in erythroid cells. Cell Chem Biol. 2022 08 18; 29(8):1273-1287.e8. View Abstract
Unleashing Cell-Intrinsic Inflammation as a Strategy to Kill AML Blasts. Cancer Discov. 2022 07 06; 12(7):1760-1781. View Abstract
Developmental maturation of the hematopoietic system controlled by a Lin28b-let-7-Cbx2 axis. Cell Rep. 2022 04 05; 39(1):110587. View Abstract
A distinct core regulatory module enforces oncogene expression in KMT2A-rearranged leukemia. Genes Dev. 2022 03 01; 36(5-6):368-389. View Abstract
Transcription factor-mediated intestinal metaplasia and the role of a shadow enhancer. Genes Dev. 2022 01 01; 36(1-2):38-52. View Abstract
Inner nuclear protein Matrin-3 coordinates cell differentiation by stabilizing chromatin architecture. Nat Commun. 2021 10 29; 12(1):6241. View Abstract
Mapping the evolving landscape of super-enhancers during cell differentiation. Genome Biol. 2021 09 15; 22(1):269. View Abstract
Dietary suppression of MHC class II expression in intestinal epithelial cells enhances intestinal tumorigenesis. Cell Stem Cell. 2021 11 04; 28(11):1922-1935.e5. View Abstract
A unified model of human hemoglobin switching through single-cell genome editing. Nat Commun. 2021 08 17; 12(1):4991. View Abstract
Reactivation of a developmentally silenced embryonic globin gene. Nat Commun. 2021 07 21; 12(1):4439. View Abstract
Indispensable epigenetic control of thymic epithelial cell development and function by polycomb repressive complex 2. Nat Commun. 2021 06 24; 12(1):3933. View Abstract
Author Correction: Transcription factor competition at the ?-globin promoters controls hemoglobin switching. Nat Genet. 2021 Apr; 53(4):586. View Abstract
Transcription factor competition at the ?-globin promoters controls hemoglobin switching. Nat Genet. 2021 04; 53(4):511-520. View Abstract
MOLECULAR MEDICINE: Found in Translation. Med. 2021 02 12; 2(2):122-136. View Abstract
ARID4B is critical for mouse embryonic stem cell differentiation towards mesoderm and endoderm, linking epigenetics to pluripotency exit. J Biol Chem. 2020 12 18; 295(51):17738-17751. View Abstract
Arid4b is critical for mouse embryonic stem cell differentiation towards mesoderm and endoderm, linking epigenetics to pluripotency exit. J Biol Chem. 2020 Oct 15. View Abstract
A saturating mutagenesis CRISPR-Cas9-mediated functional genomic screen identifies cis- and trans-regulatory elements of Oct4 in murine ESCs. J Biol Chem. 2020 11 20; 295(47):15797-15809. View Abstract
Enhancer dependence of cell-type-specific gene expression increases with developmental age. Proc Natl Acad Sci U S A. 2020 09 01; 117(35):21450-21458. View Abstract
An Engineered CRISPR-Cas9 Mouse Line for Simultaneous Readout of Lineage Histories and Gene Expression Profiles in Single Cells. Cell. 2020 Jun 25; 181(7):1693-1694. View Abstract
An Engineered CRISPR-Cas9 Mouse Line for Simultaneous Readout of Lineage Histories and Gene Expression Profiles in Single Cells. Cell. 2020 06 11; 181(6):1410-1422.e27. View Abstract
Multiplexed capture of spatial configuration and temporal dynamics of locus-specific 3D chromatin by biotinylated dCas9. Genome Biol. 2020 03 05; 21(1):59. View Abstract
Live-animal imaging of native haematopoietic stem and progenitor cells. Nature. 2020 02; 578(7794):278-283. View Abstract
Control of human hemoglobin switching by LIN28B-mediated regulation of BCL11A translation. Nat Genet. 2020 02; 52(2):138-145. View Abstract
CUT&RUNTools: a flexible pipeline for CUT&RUN processing and footprint analysis. Genome Biol. 2019 09 09; 20(1):192. View Abstract
BORIS promotes chromatin regulatory interactions in treatment-resistant cancer cells. Nature. 2019 08; 572(7771):676-680. View Abstract
Rational targeting of a NuRD subcomplex guided by comprehensive in situ mutagenesis. Nat Genet. 2019 07; 51(7):1149-1159. View Abstract
TAF5L and TAF6L Maintain Self-Renewal of Embryonic Stem Cells via the MYC Regulatory Network. Mol Cell. 2019 06 20; 74(6):1148-1163.e7. View Abstract
Extensive Recovery of Embryonic Enhancer and Gene Memory Stored in Hypomethylated Enhancer DNA. Mol Cell. 2019 05 02; 74(3):542-554.e5. View Abstract
Single-Cell Analysis Identifies LY6D as a Marker Linking Castration-Resistant Prostate Luminal Cells to Prostate Progenitors and Cancer. Cell Rep. 2018 12 18; 25(12):3504-3518.e6. View Abstract
Yap1 safeguards mouse embryonic stem cells from excessive apoptosis during differentiation. Elife. 2018 12 18; 7. View Abstract
CRISPR-SURF: discovering regulatory elements by deconvolution of CRISPR tiling screen data. Nat Methods. 2018 12; 15(12):992-993. View Abstract
PRC2 loss induces chemoresistance by repressing apoptosis in T cell acute lymphoblastic leukemia. J Exp Med. 2018 12 03; 215(12):3094-3114. View Abstract
FAM210B is an erythropoietin target and regulates erythroid heme synthesis by controlling mitochondrial iron import and ferrochelatase activity. J Biol Chem. 2018 12 21; 293(51):19797-19811. View Abstract
Emerging Genetic Therapy for Sickle Cell Disease. Annu Rev Med. 2019 01 27; 70:257-271. View Abstract
Polycomb Repressive Complex 2 is essential for development and maintenance of a functional TEC compartment. Sci Rep. 2018 09 25; 8(1):14335. View Abstract
Canonical PRC2 function is essential for mammary gland development and affects chromatin compaction in mammary organoids. PLoS Biol. 2018 08; 16(8):e2004986. View Abstract
Author Correction: High-fat diet enhances stemness and tumorigenicity of intestinal progenitors. Nature. 2018 08; 560(7717):E26. View Abstract
Downregulation of Endothelin Receptor B Contributes to Defective B Cell Lymphopoiesis in Trisomy 21 Pluripotent Stem Cells. Sci Rep. 2018 05 22; 8(1):8001. View Abstract
Mapping the Mouse Cell Atlas by Microwell-Seq. Cell. 2018 05 17; 173(5):1307. View Abstract
The Polycomb-Dependent Epigenome Controls ß Cell Dysfunction, Dedifferentiation, and Diabetes. Cell Metab. 2018 Jun 05; 27(6):1294-1308.e7. View Abstract
14q32 and let-7 microRNAs regulate transcriptional networks in fetal and adult human erythroblasts. Hum Mol Genet. 2018 04 15; 27(8):1411-1420. View Abstract
Integrated design, execution, and analysis of arrayed and pooled CRISPR genome-editing experiments. Nat Protoc. 2018 May; 13(5):946-986. View Abstract
Direct Promoter Repression by BCL11A Controls the Fetal to Adult Hemoglobin Switch. Cell. 2018 04 05; 173(2):430-442.e17. View Abstract
Dissecting super-enhancer hierarchy based on chromatin interactions. Nat Commun. 2018 03 05; 9(1):943. View Abstract
Mapping the Mouse Cell Atlas by Microwell-Seq. Cell. 2018 02 22; 172(5):1091-1107.e17. View Abstract
Genome-wide CRISPR-Cas9 Screen Identifies Leukemia-Specific Dependence on a Pre-mRNA Metabolic Pathway Regulated by DCPS. Cancer Cell. 2018 03 12; 33(3):386-400.e5. View Abstract
Regulation of embryonic haematopoietic multipotency by EZH1. Nature. 2018 01 25; 553(7689):506-510. View Abstract
Human genetic variation alters CRISPR-Cas9 on- and off-targeting specificity at therapeutically implicated loci. Proc Natl Acad Sci U S A. 2017 Dec 26; 114(52):E11257-E11266. View Abstract
Recent progress in understanding and manipulating haemoglobin switching for the haemoglobinopathies. Br J Haematol. 2018 03; 180(5):630-643. View Abstract
First critical repressive H3K27me3 marks in embryonic stem cells identified using designed protein inhibitor. Proc Natl Acad Sci U S A. 2017 09 19; 114(38):10125-10130. View Abstract
PRMT1-Mediated Translation Regulation Is a Crucial Vulnerability of Cancer. Cancer Res. 2017 09 01; 77(17):4613-4625. View Abstract
Gene correction of HAX1 reversed Kostmann disease phenotype in patient-specific induced pluripotent stem cells. Blood Adv. 2017 Jun 13; 1(14):903-914. View Abstract
A molecular roadmap for induced multi-lineage trans-differentiation of fibroblasts by chemical combinations. Cell Res. 2017 06; 27(6):842. View Abstract
A molecular roadmap for induced multi-lineage trans-differentiation of fibroblasts by chemical combinations. Cell Res. 2017 06; 27(6):843. View Abstract
The 2017 ASPHO distinguished career award goes to Holcombe E. Grier, MD. Pediatr Blood Cancer. 2017 06; 64 Suppl 1. View Abstract
Challenges and emerging directions in single-cell analysis. Genome Biol. 2017 05 08; 18(1):84. View Abstract
Reduced Erg Dosage Impairs Survival of Hematopoietic Stem and Progenitor Cells. Stem Cells. 2017 07; 35(7):1773-1785. View Abstract
EED orchestration of heart maturation through interaction with HDACs is H3K27me3-independent. Elife. 2017 04 10; 6. View Abstract
Functional interrogation of non-coding DNA through CRISPR genome editing. Methods. 2017 May 15; 121-122:118-129. View Abstract
Transcription control by the ENL YEATS domain in acute leukaemia. Nature. 2017 03 09; 543(7644):270-274. View Abstract
Variant-aware saturating mutagenesis using multiple Cas9 nucleases identifies regulatory elements at trait-associated loci. Nat Genet. 2017 Apr; 49(4):625-634. View Abstract
Characterization of genomic deletion efficiency mediated by clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 nuclease system in mammalian cells. J Biol Chem. 2017 02 10; 292(6):2556. View Abstract
A molecular roadmap for induced multi-lineage trans-differentiation of fibroblasts by chemical combinations. Cell Res. 2017 03; 27(3):386-401. View Abstract
The histone demethylase UTX regulates the lineage-specific epigenetic program of invariant natural killer T cells. Nat Immunol. 2017 02; 18(2):184-195. View Abstract
Strict in vivo specificity of the Bcl11a erythroid enhancer. Blood. 2016 11 10; 128(19):2338-2342. View Abstract
CellMapper: rapid and accurate inference of gene expression in difficult-to-isolate cell types. Genome Biol. 2016 09 29; 17(1):201. View Abstract
Bcl11a Deficiency Leads to Hematopoietic Stem Cell Defects with an Aging-like Phenotype. Cell Rep. 2016 09 20; 16(12):3181-3194. View Abstract
Chronic Myelogenous Leukemia- Initiating Cells Require Polycomb Group Protein EZH2. Cancer Discov. 2016 11; 6(11):1237-1247. View Abstract
Loss of Ezh2 synergizes with JAK2-V617F in initiating myeloproliferative neoplasms and promoting myelofibrosis. J Exp Med. 2016 07 25; 213(8):1479-96. View Abstract
The Public Repository of Xenografts Enables Discovery and Randomized Phase II-like Trials in Mice. Cancer Cell. 2016 07 11; 30(1):183. View Abstract
Adenosine-to-inosine RNA editing by ADAR1 is essential for normal murine erythropoiesis. Exp Hematol. 2016 10; 44(10):947-63. View Abstract
An Achilles' Heel for MLL-Rearranged Leukemias: Writers and Readers of H3 Lysine 36 Dimethylation. Cancer Discov. 2016 07; 6(7):700-2. View Abstract
Hemoglobin genetics: recent contributions of GWAS and gene editing. Hum Mol Genet. 2016 10 01; 25(R2):R99-R105. View Abstract
The Public Repository of Xenografts Enables Discovery and Randomized Phase II-like Trials in Mice. Cancer Cell. 2016 04 11; 29(4):574-586. View Abstract
Customizing the genome as therapy for the ß-hemoglobinopathies. Blood. 2016 05 26; 127(21):2536-45. View Abstract
High-fat diet enhances stemness and tumorigenicity of intestinal progenitors. Nature. 2016 Mar 03; 531(7592):53-8. View Abstract
Ezh2 Controls an Early Hematopoietic Program and Growth and Survival Signaling in Early T Cell Precursor Acute Lymphoblastic Leukemia. Cell Rep. 2016 Mar 01; 14(8):1953-65. View Abstract
Recent advances in globin research using genome-wide association studies and gene editing. Ann N Y Acad Sci. 2016 03; 1368(1):5-10. View Abstract
Serum-Based Culture Conditions Provoke Gene Expression Variability in Mouse Embryonic Stem Cells as Revealed by Single-Cell Analysis. Cell Rep. 2016 Feb 02; 14(4):956-965. View Abstract
Transcription factors LRF and BCL11A independently repress expression of fetal hemoglobin. Science. 2016 Jan 15; 351(6270):285-9. View Abstract
Genetic treatment of a molecular disorder: gene therapy approaches to sickle cell disease. Blood. 2016 Feb 18; 127(7):839-48. View Abstract
Dynamic Control of Enhancer Repertoires Drives Lineage and Stage-Specific Transcription during Hematopoiesis. Dev Cell. 2016 Jan 11; 36(1):9-23. View Abstract
Polycomb Repressive Complex 2 Is a Barrier to KRAS-Driven Inflammation and Epithelial-Mesenchymal Transition in Non-Small-Cell Lung Cancer. Cancer Cell. 2016 Jan 11; 29(1):17-31. View Abstract
Corrigendum: Failure to replicate the STAP cell phenomenon. Nature. 2016 Mar 17; 531(7594):400. View Abstract
Ezh2 regulates differentiation and function of natural killer cells through histone methyltransferase activity. Proc Natl Acad Sci U S A. 2015 Dec 29; 112(52):15988-93. View Abstract
LSD1 is essential for oocyte meiotic progression by regulating CDC25B expression in mice. Nat Commun. 2015 Dec 02; 6:10116. View Abstract
SWI/SNF-mutant cancers depend on catalytic and non-catalytic activity of EZH2. Nat Med. 2015 Dec; 21(12):1491-6. View Abstract
The LSD1 Family of Histone Demethylases and the Pumilio Posttranscriptional Repressor Function in a Complex Regulatory Feedback Loop. Mol Cell Biol. 2015 Dec; 35(24):4199-211. View Abstract
Failure to replicate the STAP cell phenomenon. Nature. 2015 Sep 24; 525(7570):E6-9. View Abstract
Hematopoietic stem cells develop in the absence of endothelial cadherin 5 expression. Blood. 2015 Dec 24; 126(26):2811-20. View Abstract
BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis. Nature. 2015 Nov 12; 527(7577):192-7. View Abstract
Hemoglobin switching's surprise: the versatile transcription factor BCL11A is a master repressor of fetal hemoglobin. Curr Opin Genet Dev. 2015 Aug; 33:62-70. View Abstract
EHMT1 and EHMT2 inhibition induces fetal hemoglobin expression. Blood. 2015 Oct 15; 126(16):1930-9. View Abstract
PRC2 Is Required to Maintain Expression of the Maternal Gtl2-Rian-Mirg Locus by Preventing De Novo DNA Methylation in Mouse Embryonic Stem Cells. Cell Rep. 2015 Sep 01; 12(9):1456-70. View Abstract
Inactivation of Eed impedes MLL-AF9-mediated leukemogenesis through Cdkn2a-dependent and Cdkn2a-independent mechanisms in a murine model. Exp Hematol. 2015 Nov; 43(11):930-935.e6. View Abstract
miRNA-embedded shRNAs for Lineage-specific BCL11A Knockdown and Hemoglobin F Induction. Mol Ther. 2015 Sep; 23(9):1465-74. View Abstract
Regulation of Peripheral Nerve Myelin Maintenance by Gene Repression through Polycomb Repressive Complex 2. J Neurosci. 2015 Jun 03; 35(22):8640-52. View Abstract
Embryonic stem cells as sources of donor-independent platelets. J Clin Invest. 2015 Jun; 125(6):2261-3. View Abstract
BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations. J Clin Invest. 2015 Jun; 125(6):2363-8. View Abstract
Opposing Roles for the lncRNA Haunt and Its Genomic Locus in Regulating HOXA Gene Activation during Embryonic Stem Cell Differentiation. Cell Stem Cell. 2015 May 07; 16(5):504-16. View Abstract
The mTORC1/4E-BP pathway coordinates hemoglobin production with L-leucine availability. Sci Signal. 2015 Apr 14; 8(372):ra34. View Abstract
Flow-induced protein kinase A-CREB pathway acts via BMP signaling to promote HSC emergence. J Exp Med. 2015 May 04; 212(5):633-48. View Abstract
2014 William Allan Award: A hematologist's pursuit of hemoglobin genetics. Am J Hum Genet. 2015 Mar 05; 96(3):354-60. View Abstract
Angiopoietin-like proteins stimulate HSPC development through interaction with notch receptor signaling. Elife. 2015 Feb 25; 4. View Abstract
Functional Proteomic Analysis of Repressive Histone Methyltransferase Complexes Reveals ZNF518B as a G9A Regulator. Mol Cell Proteomics. 2015 Jun; 14(6):1435-46. View Abstract
Developmental control of polycomb subunit composition by GATA factors mediates a switch to non-canonical functions. Mol Cell. 2015 Jan 22; 57(2):304-316. View Abstract
Scl binds to primed enhancers in mesoderm to regulate hematopoietic and cardiac fate divergence. EMBO J. 2015 Mar 12; 34(6):759-77. View Abstract
Generation of genomic deletions in mammalian cell lines via CRISPR/Cas9. J Vis Exp. 2015 Jan 03; (95):e52118. View Abstract
Complementary genomic approaches highlight the PI3K/mTOR pathway as a common vulnerability in osteosarcoma. Proc Natl Acad Sci U S A. 2014 Dec 23; 111(51):E5564-73. View Abstract
Characterizing heterogeneity in leukemic cells using single-cell gene expression analysis. Genome Biol. 2014 Dec 03; 15(12):525. View Abstract
Mouse regulatory DNA landscapes reveal global principles of cis-regulatory evolution. Science. 2014 Nov 21; 346(6212):1007-12. View Abstract
A comparative encyclopedia of DNA elements in the mouse genome. Nature. 2014 Nov 20; 515(7527):355-64. View Abstract
Inflammatory signaling regulates embryonic hematopoietic stem and progenitor cell production. Genes Dev. 2014 Dec 01; 28(23):2597-612. View Abstract
Myeloproliferative neoplasms can be initiated from a single hematopoietic stem cell expressing JAK2-V617F. J Exp Med. 2014 Oct 20; 211(11):2213-30. View Abstract
TMEM14C is required for erythroid mitochondrial heme metabolism. J Clin Invest. 2014 Oct; 124(10):4294-304. View Abstract
Characterization of genomic deletion efficiency mediated by clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 nuclease system in mammalian cells. J Biol Chem. 2014 08 01; 289(31):21312-24. View Abstract
Reprogramming committed murine blood cells to induced hematopoietic stem cells with defined factors. Cell. 2014 Apr 24; 157(3):549-64. View Abstract
Distinct, strict requirements for Gfi-1b in adult bone marrow red cell and platelet generation. J Exp Med. 2014 May 05; 211(5):909-27. View Abstract
Corepressor Rcor1 is essential for murine erythropoiesis. Blood. 2014 May 15; 123(20):3175-84. View Abstract
Analysis of chromatin-state plasticity identifies cell-type-specific regulators of H3K27me3 patterns. Proc Natl Acad Sci U S A. 2014 Jan 21; 111(3):E344-53. View Abstract
Calpain 2 activation of P-TEFb drives megakaryocyte morphogenesis and is disrupted by leukemogenic GATA1 mutation. Dev Cell. 2013 Dec 23; 27(6):607-20. View Abstract
Distinct and combinatorial functions of Jmjd2b/Kdm4b and Jmjd2c/Kdm4c in mouse embryonic stem cell identity. Mol Cell. 2014 01 09; 53(1):32-48. View Abstract
GATA1s induces hyperproliferation of eosinophil precursors in Down syndrome transient leukemia. Leukemia. 2014 Jun; 28(6):1259-70. View Abstract
Polycomb repressive complex 2 regulates normal hematopoietic stem cell function in a developmental-stage-specific manner. Cell Stem Cell. 2014 Jan 02; 14(1):68-80. View Abstract
An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level. Science. 2013 Oct 11; 342(6155):253-7. View Abstract
Mapping cellular hierarchy by single-cell analysis of the cell surface repertoire. Cell Stem Cell. 2013 Oct 03; 13(4):492-505. View Abstract
Histone deacetylase inhibitors induce apoptosis in myeloid leukemia by suppressing autophagy. Leukemia. 2014 Mar; 28(3):577-88. View Abstract
Targeted disruption of the EZH2-EED complex inhibits EZH2-dependent cancer. Nat Chem Biol. 2013 Oct; 9(10):643-50. View Abstract
Delineating the mixed lineage leukemia gene expression network in hematopoietic stem cells. Proc Natl Acad Sci U S A. 2013 Jul 16; 110(29):11670-1. View Abstract
Histone demethylase Lsd1 represses hematopoietic stem and progenitor cell signatures during blood cell maturation. Elife. 2013 Jun 18; 2:e00633. View Abstract
Corepressor-dependent silencing of fetal hemoglobin expression by BCL11A. Proc Natl Acad Sci U S A. 2013 Apr 16; 110(16):6518-23. View Abstract
ETV1 directs androgen metabolism and confers aggressive prostate cancer in targeted mice and patients. Genes Dev. 2013 Mar 15; 27(6):683-98. View Abstract
Genome-wide association studies of hematologic phenotypes: a window into human hematopoiesis. Curr Opin Genet Dev. 2013 Jun; 23(3):339-44. View Abstract
Sustained PU.1 levels balance cell-cycle regulators to prevent exhaustion of adult hematopoietic stem cells. Mol Cell. 2013 Mar 07; 49(5):934-46. View Abstract
The switch from fetal to adult hemoglobin. Cold Spring Harb Perspect Med. 2013 Jan 01; 3(1):a011643. View Abstract
TiF1-gamma plays an essential role in murine hematopoiesis and regulates transcriptional elongation of erythroid genes. Dev Biol. 2013 Jan 15; 373(2):422-30. View Abstract
Altered hematopoiesis in trisomy 21 as revealed through in vitro differentiation of isogenic human pluripotent cells. Proc Natl Acad Sci U S A. 2012 Oct 23; 109(43):17567-72. View Abstract
Combinatorial assembly of developmental stage-specific enhancers controls gene expression programs during human erythropoiesis. Dev Cell. 2012 Oct 16; 23(4):796-811. View Abstract
Cyclin D3 coordinates the cell cycle during differentiation to regulate erythrocyte size and number. Genes Dev. 2012 Sep 15; 26(18):2075-87. View Abstract
Reawakening fetal hemoglobin: prospects for new therapies for the ß-globin disorders. Blood. 2012 Oct 11; 120(15):2945-53. View Abstract
Scl represses cardiomyogenesis in prospective hemogenic endothelium and endocardium. Cell. 2012 Aug 03; 150(3):590-605. View Abstract
The CACCC-binding protein KLF3/BKLF represses a subset of KLF1/EKLF target genes and is required for proper erythroid maturation in vivo. Mol Cell Biol. 2012 Aug; 32(16):3281-92. View Abstract
MAnorm: a robust model for quantitative comparison of ChIP-Seq data sets. Genome Biol. 2012 Mar 16; 13(3):R16. View Abstract
Polycomb repressive complex 2 is required for MLL-AF9 leukemia. Proc Natl Acad Sci U S A. 2012 Mar 27; 109(13):5028-33. View Abstract
MicroRNA-21 integrates pathogenic signaling to control pulmonary hypertension: results of a network bioinformatics approach. Circulation. 2012 Mar 27; 125(12):1520-32. View Abstract
A human stem cell model of early Alzheimer's disease pathology in Down syndrome. Sci Transl Med. 2012 Mar 07; 4(124):124ra29. View Abstract
MicroRNA-21 promotes fibrosis of the kidney by silencing metabolic pathways. Sci Transl Med. 2012 Feb 15; 4(121):121ra18. View Abstract
Haploinsufficiency of Dnmt1 impairs leukemia stem cell function through derepression of bivalent chromatin domains. Genes Dev. 2012 Feb 15; 26(4):344-9. View Abstract
Generation of a genomic reporter assay system for analysis of ?- and ß-globin gene regulation. FASEB J. 2012 Apr; 26(4):1736-44. View Abstract
PRC2 directly methylates GATA4 and represses its transcriptional activity. Genes Dev. 2012 Jan 01; 26(1):37-42. View Abstract
Polycomb repressive complex 2 regulates normal development of the mouse heart. Circ Res. 2012 Feb 03; 110(3):406-15. View Abstract
Embryonic stem cell-specific signatures in cancer: insights into genomic regulatory networks and implications for medicine. Genome Med. 2011 Nov 29; 3(11):75. View Abstract
Zfp281 functions as a transcriptional repressor for pluripotency of mouse embryonic stem cells. Stem Cells. 2011 Nov; 29(11):1705-16. View Abstract
Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing. Science. 2011 Nov 18; 334(6058):993-6. View Abstract
Sox2 maintains self renewal of tumor-initiating cells in osteosarcomas. Oncogene. 2012 May 03; 31(18):2270-82. View Abstract
A functional element necessary for fetal hemoglobin silencing. N Engl J Med. 2011 Sep 01; 365(9):807-14. View Abstract
MicroRNA-21 limits in vivo immune response-mediated activation of the IL-12/IFN-gamma pathway, Th1 polarization, and the severity of delayed-type hypersensitivity. J Immunol. 2011 Sep 15; 187(6):3362-73. View Abstract
Loss of the retinoblastoma binding protein 2 (RBP2) histone demethylase suppresses tumorigenesis in mice lacking Rb1 or Men1. Proc Natl Acad Sci U S A. 2011 Aug 16; 108(33):13379-86. View Abstract
Chromatin connections to pluripotency and cellular reprogramming. Cell. 2011 Jun 10; 145(6):835-50. View Abstract
Genome Medicine: stem cells, genomics and translational research. Genome Med. 2011 Jun 07; 3(6):34. View Abstract
The erythroid/myeloid lineage fate paradigm takes a new player. EMBO J. 2011 Mar 16; 30(6):983-5. View Abstract
Context-dependent function of "GATA switch" sites in vivo. Blood. 2011 May 05; 117(18):4769-72. View Abstract
Tet1 and Tet2 regulate 5-hydroxymethylcytosine production and cell lineage specification in mouse embryonic stem cells. Cell Stem Cell. 2011 Feb 04; 8(2):200-13. View Abstract
Update on fetal hemoglobin gene regulation in hemoglobinopathies. Curr Opin Pediatr. 2011 Feb; 23(1):1-8. View Abstract
MicroRNA-15a and -16-1 act via MYB to elevate fetal hemoglobin expression in human trisomy 13. Proc Natl Acad Sci U S A. 2011 Jan 25; 108(4):1519-24. View Abstract
A transient transgenic RNAi strategy for rapid characterization of gene function during embryonic development. PLoS One. 2010 Dec 16; 5(12):e14375. View Abstract
Therapeutic levels of fetal hemoglobin in erythroid progeny of ß-thalassemic CD34+ cells after lentiviral vector-mediated gene transfer. Blood. 2011 Mar 10; 117(10):2817-26. View Abstract
Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. Nat Genet. 2010 Dec; 42(12):1049-51. View Abstract
Modifier genes in Mendelian disorders: the example of hemoglobin disorders. Ann N Y Acad Sci. 2010 Dec; 1214:47-56. View Abstract
Epigenetic antagonism between polycomb and SWI/SNF complexes during oncogenic transformation. Cancer Cell. 2010 Oct 19; 18(4):316-28. View Abstract
A Myc network accounts for similarities between embryonic stem and cancer cell transcription programs. Cell. 2010 Oct 15; 143(2):313-24. View Abstract
Training program in cancer and blood diseases: Pediatric Hematology/Oncology Fellowship Program, Children's Hospital Boston/Dana-Farber Cancer Institute. Am J Hematol. 2010 Oct; 85(10):793-4. View Abstract
Differential roles of Sall4 isoforms in embryonic stem cell pluripotency. Mol Cell Biol. 2010 Nov; 30(22):5364-80. View Abstract
A single cis element maintains repression of the key developmental regulator Gata2. PLoS Genet. 2010 Sep 09; 6(9):e1001103. View Abstract
Developmental stage-specific interplay of GATA1 and IGF signaling in fetal megakaryopoiesis and leukemogenesis. Genes Dev. 2010 Aug 01; 24(15):1659-72. View Abstract
Transcriptional silencing of fetal hemoglobin by BCL11A. Ann N Y Acad Sci. 2010 Aug; 1202:64-8. View Abstract
Medicine. Sickle cell disease at 100 years. Science. 2010 Jul 16; 329(5989):291-2. View Abstract
Musings on genome medicine: Hepatitis C. Genome Med. 2010 Jan 27; 2(1):4. View Abstract
Jumonji modulates polycomb activity and self-renewal versus differentiation of stem cells. Cell. 2009 Dec 24; 139(7):1303-14. View Abstract
Musings on genome medicine: enzyme-replacement therapy of the lysosomal storage diseases. Genome Med. 2009 Dec 09; 1(12):114. View Abstract
Insights into GATA-1-mediated gene activation versus repression via genome-wide chromatin occupancy analysis. Mol Cell. 2009 Nov 25; 36(4):682-95. View Abstract
Musings on genome medicine: Crohn's disease. Genome Med. 2009 Nov 05; 1(11):103. View Abstract
Musings on genome medicine: the slow but inexorable process of medical care reform in the United States. Genome Med. 2009 Oct 12; 1(10):94. View Abstract
DNA methyltransferase 1 is essential for and uniquely regulates hematopoietic stem and progenitor cells. Cell Stem Cell. 2009 Oct 02; 5(4):442-9. View Abstract
Musings on genome medicine: the Obama effect redux. Genome Med. 2009 Sep 11; 1(9):86. View Abstract
Developmental and species-divergent globin switching are driven by BCL11A. Nature. 2009 Aug 27; 460(7259):1093-7. View Abstract
Translational isoforms of FOG1 regulate GATA1-interacting complexes. J Biol Chem. 2009 Oct 23; 284(43):29310-9. View Abstract
GATA-2 reinforces megakaryocyte development in the absence of GATA-1. Mol Cell Biol. 2009 Sep; 29(18):5168-80. View Abstract
TEL-AML1 corrupts hematopoietic stem cells to persist in the bone marrow and initiate leukemia. Cell Stem Cell. 2009 Jul 02; 5(1):43-53. View Abstract
Musings on genome medicine: cholesterol and coronary artery disease. Genome Med. 2009 Jun 08; 1(6):60. View Abstract
Musings on genome medicine: cancer genetics and the promise of effective treatment. Genome Med. 2009 May 06; 1(5):49. View Abstract
A genome-wide RNAi screen identifies a new transcriptional module required for self-renewal. Genes Dev. 2009 Apr 01; 23(7):837-48. View Abstract
Use of in vivo biotinylation to study protein-protein and protein-DNA interactions in mouse embryonic stem cells. Nat Protoc. 2009; 4(4):506-17. View Abstract
Musings on genome medicine: the Obama effect. Genome Med. 2009 Mar 09; 1(3):30. View Abstract
Tandem affinity purification of protein complexes in mouse embryonic stem cells using in vivo biotinylation. Curr Protoc Stem Cell Biol. 2009 Mar; Chapter 1:Unit1B.5. View Abstract
Musings on genome medicine: abuse of genetic tests. Genome Med. 2009 Feb 16; 1(2):18. View Abstract
Mef2C is a lineage-restricted target of Scl/Tal1 and regulates megakaryopoiesis and B-cell homeostasis. Blood. 2009 Apr 09; 113(15):3461-71. View Abstract
Musings on genome medicine: genome wide association studies. Genome Med. 2009 Jan 20; 1(1):3. View Abstract
Glimpses of the epigenetic landscape. Cell Stem Cell. 2009 Jan 09; 4(1):1-2. View Abstract
ADAR1 is essential for the maintenance of hematopoiesis and suppression of interferon signaling. Nat Immunol. 2009 Jan; 10(1):109-15. View Abstract
Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science. 2008 Dec 19; 322(5909):1839-42. View Abstract
EZH1 mediates methylation on histone H3 lysine 27 and complements EZH2 in maintaining stem cell identity and executing pluripotency. Mol Cell. 2008 Nov 21; 32(4):491-502. View Abstract
Polycomb group proteins Ezh2 and Rnf2 direct genomic contraction and imprinted repression in early mouse embryos. Dev Cell. 2008 Nov; 15(5):668-79. View Abstract
Rb and hematopoiesis: stem cells to anemia. Cell Div. 2008 Sep 08; 3:13. View Abstract
DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proc Natl Acad Sci U S A. 2008 Aug 19; 105(33):11869-74. View Abstract
GATA4 mediates gene repression in the mature mouse small intestine through interactions with friend of GATA (FOG) cofactors. Dev Biol. 2008 Oct 01; 322(1):179-89. View Abstract
Conditional mouse osteosarcoma, dependent on p53 loss and potentiated by loss of Rb, mimics the human disease. Genes Dev. 2008 Jun 15; 22(12):1662-76. View Abstract
Requirement of Nanog dimerization for stem cell self-renewal and pluripotency. Proc Natl Acad Sci U S A. 2008 Apr 29; 105(17):6326-31. View Abstract
Targeted disruption of the basic Krüppel-like factor gene (Klf3) reveals a role in adipogenesis. Mol Cell Biol. 2008 Jun; 28(12):3967-78. View Abstract
An extended transcriptional network for pluripotency of embryonic stem cells. Cell. 2008 Mar 21; 132(6):1049-61. View Abstract
The emergence of hematopoietic stem cells is initiated in the placental vasculature in the absence of circulation. Cell Stem Cell. 2008 Mar 06; 2(3):252-63. View Abstract
PRC1 and Suv39h specify parental asymmetry at constitutive heterochromatin in early mouse embryos. Nat Genet. 2008 Apr; 40(4):411-20. View Abstract
Antagonism of FOG-1 and GATA factors in fate choice for the mast cell lineage. J Exp Med. 2008 Mar 17; 205(3):611-24. View Abstract
Hematopoiesis: an evolving paradigm for stem cell biology. Cell. 2008 Feb 22; 132(4):631-44. View Abstract
SnapShot: hematopoiesis. Cell. 2008 Feb 22; 132(4):712. View Abstract
Oct4 dependence of chromatin structure within the extended Nanog locus in ES cells. Genes Dev. 2008 Mar 01; 22(5):575-80. View Abstract
Rb intrinsically promotes erythropoiesis by coupling cell cycle exit with mitochondrial biogenesis. Genes Dev. 2008 Feb 15; 22(4):463-75. View Abstract
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proc Natl Acad Sci U S A. 2008 Feb 05; 105(5):1620-5. View Abstract
A protein roadmap to pluripotency and faithful reprogramming. Cells Tissues Organs. 2008; 188(1-2):23-30. View Abstract
The transcriptional network controlling pluripotency in ES cells. Cold Spring Harb Symp Quant Biol. 2008; 73:195-202. View Abstract
Site-directed, virus-free, and inducible RNAi in embryonic stem cells. Proc Natl Acad Sci U S A. 2007 Dec 26; 104(52):20850-5. View Abstract
ETV6-NTRK3 fusion oncogene initiates breast cancer from committed mammary progenitors via activation of AP1 complex. Cancer Cell. 2007 Dec; 12(6):542-58. View Abstract
Epigenetic regulation of hematopoietic differentiation by Gfi-1 and Gfi-1b is mediated by the cofactors CoREST and LSD1. Mol Cell. 2007 Aug 17; 27(4):562-72. View Abstract
Rb regulates interactions between hematopoietic stem cells and their bone marrow microenvironment. Cell. 2007 Jun 15; 129(6):1081-95. View Abstract
Gata4 is necessary for normal pulmonary lobar development. Am J Respir Cell Mol Biol. 2007 Apr; 36(4):391-7. View Abstract
Developmental origin of a bipotential myocardial and smooth muscle cell precursor in the mammalian heart. Cell. 2006 Dec 15; 127(6):1137-50. View Abstract
A protein interaction network for pluripotency of embryonic stem cells. Nature. 2006 Nov 16; 444(7117):364-8. View Abstract
The hypomorphic Gata1low mutation alters the proliferation/differentiation potential of the common megakaryocytic-erythroid progenitor. Blood. 2007 Feb 15; 109(4):1460-71. View Abstract
The journey of developing hematopoietic stem cells. Development. 2006 Oct; 133(19):3733-44. View Abstract
Rb is dispensable for self-renewal and multilineage differentiation of adult hematopoietic stem cells. Proc Natl Acad Sci U S A. 2006 Jun 13; 103(24):9057-62. View Abstract
Notch signaling requires GATA-2 to inhibit myelopoiesis from embryonic stem cells and primary hemopoietic progenitors. J Immunol. 2006 May 01; 176(9):5267-75. View Abstract
Characterization of a megakaryocyte-specific enhancer of the key hemopoietic transcription factor GATA1. J Biol Chem. 2006 May 12; 281(19):13733-13742. View Abstract
Identification of distinct molecular phenotypes in acute megakaryoblastic leukemia by gene expression profiling. Proc Natl Acad Sci U S A. 2006 Feb 28; 103(9):3339-44. View Abstract
Reactions to the Hwang scandal. Science. 2006 Feb 03; 311(5761):606-7. View Abstract
Phosphorylation of Gata1 at serine residues 72, 142, and 310 is not essential for hematopoiesis in vivo. Blood. 2006 May 01; 107(9):3527-30. View Abstract
The placenta is a niche for hematopoietic stem cells. Dev Cell. 2005 Mar; 8(3):365-75. View Abstract
Tie2Cre-mediated gene ablation defines the stem-cell leukemia gene (SCL/tal1)-dependent window during hematopoietic stem-cell development. Blood. 2005 May 15; 105(10):3871-4. View Abstract
Gene targeting and transgenic strategies for the analysis of hematopoietic development in the mouse. Methods Mol Med. 2005; 105:3-22. View Abstract
Enforced expression of PU.1 rescues osteoclastogenesis from embryonic stem cells lacking Tal-1. Stem Cells. 2005; 23(1):134-43. View Abstract
Coregulation of GATA factors by the Friend of GATA (FOG) family of multitype zinc finger proteins. Semin Cell Dev Biol. 2005 Feb; 16(1):117-28. View Abstract
GATA-2 plays two functionally distinct roles during the ontogeny of hematopoietic stem cells. J Exp Med. 2004 Oct 04; 200(7):871-82. View Abstract
Toward improving Caenorhabditis elegans phenome mapping with an ORFeome-based RNAi library. Genome Res. 2004 Oct; 14(10B):2162-8. View Abstract
Gfi-1 restricts proliferation and preserves functional integrity of haematopoietic stem cells. Nature. 2004 Oct 21; 431(7011):1002-7. View Abstract
A critical role for eosinophils in allergic airways remodeling. Science. 2004 Sep 17; 305(5691):1776-9. View Abstract
Tel/Etv6 is an essential and selective regulator of adult hematopoietic stem cell survival. Genes Dev. 2004 Oct 01; 18(19):2336-41. View Abstract
Decoding hematopoietic specificity in the helix-loop-helix domain of the transcription factor SCL/Tal-1. Mol Cell Biol. 2004 Sep; 24(17):7491-502. View Abstract
The zebrafish moonshine gene encodes transcriptional intermediary factor 1gamma, an essential regulator of hematopoiesis. PLoS Biol. 2004 Aug; 2(8):E237. View Abstract
Endogenous oncogenic K-ras(G12D) stimulates proliferation and widespread neoplastic and developmental defects. Cancer Cell. 2004 Apr; 5(4):375-87. View Abstract
Transforming acidic coiled-coil protein 3 (TACC3) controls friend of GATA-1 (FOG-1) subcellular localization and regulates the association between GATA-1 and FOG-1 during hematopoiesis. J Biol Chem. 2004 May 28; 279(22):23597-605. View Abstract
Defective neural tube closure and anteroposterior patterning in mice lacking the LIM protein LMO4 or its interacting partner Deaf-1. Mol Cell Biol. 2004 Mar; 24(5):2074-82. View Abstract
More than blood, a novel gene required for mammalian postimplantation development. Mol Cell Biol. 2004 Feb; 24(3):1168-73. View Abstract
The SWI/SNF complex--chromatin and cancer. Nat Rev Cancer. 2004 Feb; 4(2):133-42. View Abstract
Coregulator-dependent facilitation of chromatin occupancy by GATA-1. Proc Natl Acad Sci U S A. 2004 Jan 27; 101(4):980-5. View Abstract
Endothelial lineage-mediated loss of the GATA cofactor Friend of GATA 1 impairs cardiac development. Proc Natl Acad Sci U S A. 2003 Nov 25; 100(24):14030-5. View Abstract
Priming the hematopoietic pump. Immunity. 2003 Nov; 19(5):633-4. View Abstract
Functional overlap of GATA-1 and GATA-2 in primitive hematopoietic development. Blood. 2004 Jan 15; 103(2):583-5. View Abstract
Combinatorial interactions of serpent, lozenge, and U-shaped regulate crystal cell lineage commitment during Drosophila hematopoiesis. Proc Natl Acad Sci U S A. 2003 Sep 30; 100(20):11451-6. View Abstract
Essential role for the peroxiredoxin Prdx1 in erythrocyte antioxidant defence and tumour suppression. Nature. 2003 Jul 31; 424(6948):561-5. View Abstract
GATA-1 as a regulator of mast cell differentiation revealed by the phenotype of the GATA-1low mouse mutant. J Exp Med. 2003 Feb 03; 197(3):281-96. View Abstract
Combinatorial effects of Flk1 and Tal1 on vascular and hematopoietic development in the mouse. Genes Dev. 2003 Feb 01; 17(3):380-93. View Abstract
Haematopoietic stem cells retain long-term repopulating activity and multipotency in the absence of stem-cell leukaemia SCL/tal-1 gene. Nature. 2003 Jan 30; 421(6922):547-51. View Abstract
Intrinsic requirement for zinc finger transcription factor Gfi-1 in neutrophil differentiation. Immunity. 2003 Jan; 18(1):109-20. View Abstract
The zinc finger transcription factor Gfi1, implicated in lymphomagenesis, is required for inner ear hair cell differentiation and survival. Development. 2003 Jan; 130(1):221-32. View Abstract
SCL/tal-1-dependent process determines a competence to select the definitive hematopoietic lineage prior to endothelial differentiation. EMBO J. 2002 Dec 16; 21(24):6700-8. View Abstract
Highly penetrant, rapid tumorigenesis through conditional inversion of the tumor suppressor gene Snf5. Cancer Cell. 2002 Nov; 2(5):415-25. View Abstract
Gonadal differentiation, sex determination and normal Sry expression in mice require direct interaction between transcription partners GATA4 and FOG2. Development. 2002 Oct; 129(19):4627-34. View Abstract
The SCL complex regulates c-kit expression in hematopoietic cells through functional interaction with Sp1. Blood. 2002 Oct 01; 100(7):2430-40. View Abstract
Expression of CD41 marks the initiation of definitive hematopoiesis in the mouse embryo. Blood. 2003 Jan 15; 101(2):508-16. View Abstract
X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. Blood. 2002 Sep 15; 100(6):2040-5. View Abstract
Dysregulation of protein modification by ISG15 results in brain cell injury. Genes Dev. 2002 Sep 01; 16(17):2207-12. View Abstract
GATA-factor dependence of the multitype zinc-finger protein FOG-1 for its essential role in megakaryopoiesis. Proc Natl Acad Sci U S A. 2002 Jul 09; 99(14):9237-42. View Abstract
Targeted deletion of a high-affinity GATA-binding site in the GATA-1 promoter leads to selective loss of the eosinophil lineage in vivo. J Exp Med. 2002 Jun 03; 195(11):1387-95. View Abstract
Distinct domains of the GATA-1 cofactor FOG-1 differentially influence erythroid versus megakaryocytic maturation. Mol Cell Biol. 2002 Jun; 22(12):4268-79. View Abstract
Transcriptional regulation of erythropoiesis: an affair involving multiple partners. Oncogene. 2002 May 13; 21(21):3368-76. View Abstract
Interaction between FOG-1 and the corepressor C-terminal binding protein is dispensable for normal erythropoiesis in vivo. Mol Cell Biol. 2002 May; 22(9):3121-8. View Abstract
Hematopoiesis and stem cells: plasticity versus developmental heterogeneity. Nat Immunol. 2002 Apr; 3(4):323-8. View Abstract
The zinc-finger proto-oncogene Gfi-1b is essential for development of the erythroid and megakaryocytic lineages. Genes Dev. 2002 Feb 01; 16(3):301-6. View Abstract
The search for the hemangioblast. J Hematother Stem Cell Res. 2002 Feb; 11(1):9-17. View Abstract
The use of altered specificity mutants to probe specific protein-protein interactions involved in the activation of GATA-1 target genes. Methods. 2002 Jan; 26(1):84-92. View Abstract
Heme-regulated eIF2alpha kinase (HRI) is required for translational regulation and survival of erythroid precursors in iron deficiency. EMBO J. 2001 Dec 03; 20(23):6909-18. View Abstract
Mutation of E2F2 in mice causes enhanced T lymphocyte proliferation, leading to the development of autoimmunity. Immunity. 2001 Dec; 15(6):959-70. View Abstract
E2F1 and E2F2 determine thresholds for antigen-induced T-cell proliferation and suppress tumorigenesis. Mol Cell Biol. 2001 Dec; 21(24):8547-64. View Abstract
The E2F1-3 transcription factors are essential for cellular proliferation. Nature. 2001 Nov 22; 414(6862):457-62. View Abstract
Friend of GATA-1 represses GATA-3-dependent activity in CD4+ T cells. J Exp Med. 2001 Nov 19; 194(10):1461-71. View Abstract
GATA1-Cre mediates Piga gene inactivation in the erythroid/megakaryocytic lineage and leads to circulating red cells with a partial deficiency in glycosyl phosphatidylinositol-linked proteins (paroxysmal nocturnal hemoglobinuria type II cells). Blood. 2001 Oct 01; 98(7):2248-55. View Abstract
Myc requires distinct E2F activities to induce S phase and apoptosis. Mol Cell. 2001 Jul; 8(1):105-13. View Abstract
The Friend of GATA proteins U-shaped, FOG-1, and FOG-2 function as negative regulators of blood, heart, and eye development in Drosophila. Proc Natl Acad Sci U S A. 2001 Jun 19; 98(13):7342-7. View Abstract
Primitive erythropoiesis in the Xenopus embryo: the synergistic role of LMO-2, SCL and GATA-binding proteins. Development. 2001 Jun; 128(12):2301-8. View Abstract
Proper coronary vascular development and heart morphogenesis depend on interaction of GATA-4 with FOG cofactors. Genes Dev. 2001 Apr 01; 15(7):839-44. View Abstract
Activation of EGFP expression by Cre-mediated excision in a new ROSA26 reporter mouse strain. Blood. 2001 Jan 01; 97(1):324-6. View Abstract
Inositol polyphosphate 4-phosphatase type I regulates cell growth downstream of transcription factor GATA-1. Proc Natl Acad Sci U S A. 2000 Dec 05; 97(25):13696-701. View Abstract
Haploinsufficiency of Snf5 (integrase interactor 1) predisposes to malignant rhabdoid tumors in mice. Proc Natl Acad Sci U S A. 2000 Dec 05; 97(25):13796-800. View Abstract
Role of SCL/Tal-1, GATA, and ets transcription factor binding sites for the regulation of flk-1 expression during murine vascular development. Blood. 2000 Nov 01; 96(9):3078-85. View Abstract
PU.1 inhibits GATA-1 function and erythroid differentiation by blocking GATA-1 DNA binding. Blood. 2000 Oct 15; 96(8):2641-8. View Abstract
Antagonism between C/EBPbeta and FOG in eosinophil lineage commitment of multipotent hematopoietic progenitors. Genes Dev. 2000 Oct 01; 14(19):2515-25. View Abstract
Diversification of haematopoietic stem cells to specific lineages. Nat Rev Genet. 2000 10; 1(1):57-64. View Abstract
Sequential requirements for SCL/tal-1, GATA-2, macrophage colony-stimulating factor, and osteoclast differentiation factor/osteoprotegerin ligand in osteoclast development. Exp Hematol. 2000 Jul; 28(7):833-40. View Abstract
Cdc42 is required for PIP(2)-induced actin polymerization and early development but not for cell viability. Curr Biol. 2000 Jun 29; 10(13):758-65. View Abstract
FOG-2, a cofactor for GATA transcription factors, is essential for heart morphogenesis and development of coronary vessels from epicardium. Cell. 2000 Jun 23; 101(7):729-39. View Abstract
A downstream element in the human beta-globin promoter: evidence of extended sequence-specific transcription factor IID contacts. Proc Natl Acad Sci U S A. 2000 Jun 20; 97(13):7172-7. View Abstract
ABC-me: a novel mitochondrial transporter induced by GATA-1 during erythroid differentiation. EMBO J. 2000 Jun 01; 19(11):2492-502. View Abstract
FOG acts as a repressor of red blood cell development in Xenopus. Development. 2000 May; 127(10):2031-40. View Abstract
Fetal expression of a human Agamma globin transgene rescues globin chain imbalance but not hemolysis in EKLF null mouse embryos. Blood. 2000 Mar 01; 95(5):1827-33. View Abstract
Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet. 2000 Mar; 24(3):266-70. View Abstract
An essential role in liver development for transcription factor XBP-1. Genes Dev. 2000 Jan 15; 14(2):152-7. View Abstract
Specification of hematopoietic and vascular development by the bHLH transcription factor SCL without direct DNA binding. Development. 1999 Oct; 126(20):4603-15. View Abstract
Proposed changes for NIH's Center for Scientific Review. Panel on Scientific Boundaries for Review. Center for Scientific Review Advisory Committee, National Institutes of Health. Science. 1999 Jul 30; 285(5428):666-7. View Abstract
GATA-1 and erythropoietin cooperate to promote erythroid cell survival by regulating bcl-xL expression. Blood. 1999 Jul 01; 94(1):87-96. View Abstract
Expression and genetic interaction of transcription factors GATA-2 and GATA-3 during development of the mouse central nervous system. Dev Biol. 1999 Jun 15; 210(2):305-21. View Abstract
Different sequence requirements for expression in erythroid and megakaryocytic cells within a regulatory element upstream of the GATA-1 gene. Development. 1999 Jun; 126(12):2799-811. View Abstract
Consequences of GATA-1 deficiency in megakaryocytes and platelets. Blood. 1999 May 01; 93(9):2867-75. View Abstract
Improved reporter strain for monitoring Cre recombinase-mediated DNA excisions in mice. Proc Natl Acad Sci U S A. 1999 Apr 27; 96(9):5037-42. View Abstract
Intersections between blood cell development and leukemia genes. Cancer Res. 1999 Apr 01; 59(7 Suppl):1784s-1787s; discussion 1788s. View Abstract
FOG-2: A novel GATA-family cofactor related to multitype zinc-finger proteins Friend of GATA-1 and U-shaped. Proc Natl Acad Sci U S A. 1999 Feb 02; 96(3):950-5. View Abstract
Use of altered specificity mutants to probe a specific protein-protein interaction in differentiation: the GATA-1:FOG complex. Mol Cell. 1999 Feb; 3(2):219-28. View Abstract
Guanine-adenine ligation-mediated polymerase chain reaction in vivo footprinting. Methods Enzymol. 1999; 304:572-84. View Abstract
A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis. Cell. 1998 Dec 23; 95(7):891-902. View Abstract
Rescue of the embryonic lethal hematopoietic defect reveals a critical role for GATA-2 in urogenital development. EMBO J. 1998 Nov 16; 17(22):6689-700. View Abstract
The TEL/ETV6 gene is required specifically for hematopoiesis in the bone marrow. Genes Dev. 1998 Aug 01; 12(15):2392-402. View Abstract
Failure of megakaryopoiesis and arrested erythropoiesis in mice lacking the GATA-1 transcriptional cofactor FOG. Genes Dev. 1998 Apr 15; 12(8):1176-88. View Abstract
Knock-in mutation of transcription factor GATA-3 into the GATA-1 locus: partial rescue of GATA-1 loss of function in erythroid cells. Dev Biol. 1998 Apr 15; 196(2):218-27. View Abstract
Erythroid Krüppel-like factor is essential for beta-globin gene expression even in absence of gene competition, but is not sufficient to induce the switch from gamma-globin to beta-globin gene expression. Blood. 1998 Apr 01; 91(7):2259-63. View Abstract
CREB-binding protein cooperates with transcription factor GATA-1 and is required for erythroid differentiation. Proc Natl Acad Sci U S A. 1998 Mar 03; 95(5):2061-6. View Abstract
Unsuspected role for the T-cell leukemia protein SCL/tal-1 in vascular development. Genes Dev. 1998 Feb 15; 12(4):473-9. View Abstract
Embryonic stem cells and transgenic mice in the study of hematopoiesis. Int J Dev Biol. 1998; 42(7):927-34. View Abstract
The LIM-domain binding protein Ldb1 and its partner LMO2 act as negative regulators of erythroid differentiation. Proc Natl Acad Sci U S A. 1997 Dec 09; 94(25):13707-12. View Abstract
p45 NF-E2 regulates expression of thromboxane synthase in megakaryocytes. EMBO J. 1997 Sep 15; 16(18):5654-61. View Abstract
A deletion mutation in the SH2-N domain of Shp-2 severely suppresses hematopoietic cell development. Mol Cell Biol. 1997 Sep; 17(9):5499-507. View Abstract
Regulation of the serum concentration of thrombopoietin in thrombocytopenic NF-E2 knockout mice. Blood. 1997 Sep 01; 90(5):1821-7. View Abstract
An upstream, DNase I hypersensitive region of the hematopoietic-expressed transcription factor GATA-1 gene confers developmental specificity in transgenic mice. Proc Natl Acad Sci U S A. 1997 Jul 22; 94(15):7976-81. View Abstract
Yolk sac angiogenic defect and intra-embryonic apoptosis in mice lacking the Ets-related factor TEL. EMBO J. 1997 Jul 16; 16(14):4374-83. View Abstract
FOG, a multitype zinc finger protein, acts as a cofactor for transcription factor GATA-1 in erythroid and megakaryocytic differentiation. Cell. 1997 Jul 11; 90(1):109-19. View Abstract
A lineage-selective knockout establishes the critical role of transcription factor GATA-1 in megakaryocyte growth and platelet development. EMBO J. 1997 Jul 01; 16(13):3965-73. View Abstract
A "knockdown" mutation created by cis-element gene targeting reveals the dependence of erythroid cell maturation on the level of transcription factor GATA-1. Proc Natl Acad Sci U S A. 1997 Jun 24; 94(13):6781-5. View Abstract
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. 1997 May 15; 89(10):3636-43. View Abstract
Regulation of the myeloid-cell-expressed human gp91-phox gene as studied by transfer of yeast artificial chromosome clones into embryonic stem cells: suppression of a variegated cellular pattern of expression requires a full complement of distant cis elements. Mol Cell Biol. 1997 Apr; 17(4):2279-90. View Abstract
Erythroid-cell-specific properties of transcription factor GATA-1 revealed by phenotypic rescue of a gene-targeted cell line. Mol Cell Biol. 1997 Mar; 17(3):1642-51. View Abstract
GATA-2 and GATA-3 regulate trophoblast-specific gene expression in vivo. Development. 1997 Feb; 124(4):907-14. View Abstract
Guanine-adenine ligation-mediated PCR in vivo footprinting. Methods. 1997 Feb; 11(2):164-70. View Abstract
Genetics of erythropoiesis: induced mutations in mice and zebrafish. Annu Rev Genet. 1997; 31:33-60. View Abstract
Silencing of human fetal globin expression is impaired in the absence of the adult beta-globin gene activator protein EKLF. Proc Natl Acad Sci U S A. 1996 Oct 29; 93(22):12267-71. View Abstract
Arrested development of embryonic red cell precursors in mouse embryos lacking transcription factor GATA-1. Proc Natl Acad Sci U S A. 1996 Oct 29; 93(22):12355-8. View Abstract
Development of the hematopoietic system. Curr Opin Genet Dev. 1996 Oct; 6(5):597-602. View Abstract
Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton. Cell. 1996 Sep 20; 86(6):917-27. View Abstract
Thrombopoietin rescues in vitro erythroid colony formation from mouse embryos lacking the erythropoietin receptor. Proc Natl Acad Sci U S A. 1996 Aug 20; 93(17):9126-31. View Abstract
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Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease. Proc Natl Acad Sci U S A. 1991 Dec 15; 88(24):11231-5. View Abstract
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Erythroid differentiation in chimaeric mice blocked by a targeted mutation in the gene for transcription factor GATA-1. Nature. 1991 Jan 17; 349(6306):257-60. View Abstract
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Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping. Nature. 1990 Feb 22; 343(6260):774-8. View Abstract
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A rapid method for characterizing transgenic mice. Biotechniques. 1990 Jan; 8(1):34. View Abstract
Gene transfer into murine hematopoietic stem cells and bone marrow stromal cells. Ann N Y Acad Sci. 1990; 612:398-406. View Abstract
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Cloning of cDNA for the major DNA-binding protein of the erythroid lineage through expression in mammalian cells. Nature. 1989 Jun 08; 339(6224):446-51. View Abstract
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Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene. Blood. 1989 Mar; 73(4):914-8. View Abstract
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Molecular genetics of chronic granulomatous disease. Annu Rev Immunol. 1989; 7:277-307. View Abstract
Saudi Arabian sickle cell anemia. A molecular approach. Ann N Y Acad Sci. 1989; 565:143-51. View Abstract
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Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype. Hum Genet. 1988 Sep; 80(1):85-9. View Abstract
Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon gamma. N Engl J Med. 1988 Jul 21; 319(3):146-51. View Abstract
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Gene therapy of somatic cells: status and prospects. Prog Med Genet. 1988; 7:130-42. View Abstract
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Active human erythropoietin expressed in insect cells using a baculovirus vector: a role for N-linked oligosaccharide. Biochim Biophys Acta. 1987 Dec 08; 910(3):224-32. View Abstract
Genetic diagnosis by DNA analysis: progress through amplification. N Engl J Med. 1987 Oct 15; 317(16):1023-5. View Abstract
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Recombinant interferon gamma augments phagocyte superoxide production and X-chronic granulomatous disease gene expression in X-linked variant chronic granulomatous disease. J Clin Invest. 1987 Oct; 80(4):1009-16. View Abstract
Clonal analysis using recombinant DNA probes from the X-chromosome. Cancer Res. 1987 Sep 15; 47(18):4806-13. View Abstract
An alpha-globin gene initiation codon mutation in a black family with HbH disease. Blood. 1987 Sep; 70(3):729-32. View Abstract
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Alternative RNA splicing affects function of encoded platelet-derived growth factor A chain. Nature. 1987 Aug 13-19; 328(6131):621-4. View Abstract
The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex. Nature. 1987 Jun 25-Jul 1; 327(6124):717-20. View Abstract
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"Forward" and "reverse" genetics of inherited human disorders: the thalassemia syndromes and chronic granulomatous disease. Harvey Lect. 1987-1988; 83:57-76. View Abstract
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Reverse genetics and human disease. Cell. 1986 Dec 26; 47(6):845-50. View Abstract
Structure of pre-pro-von Willebrand factor and its expression in heterologous cells. Nature. 1986 Nov 20-26; 324(6094):270-3. View Abstract
Plasma and cytoplasmic gelsolins are encoded by a single gene and contain a duplicated actin-binding domain. Nature. 1986 Oct 2-8; 323(6087):455-8. View Abstract
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Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location. Nature. 1986 Jul 3-9; 322(6074):32-8. View Abstract
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Propolypeptide of von Willebrand factor circulates in blood and is identical to von Willebrand antigen II. Science. 1986 May 23; 232(4753):995-8. View Abstract
DNA linkage analysis of X chromosome-linked chronic granulomatous disease. Proc Natl Acad Sci U S A. 1986 May; 83(10):3398-401. View Abstract
Exon/intron organization of the genes coding for the delta chains of the human and murine T-cell receptor/T3 complex. Proc Natl Acad Sci U S A. 1986 May; 83(9):2944-8. View Abstract
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Somatic gene therapy. Current status and future prospects. J Clin Invest. 1986 Apr; 77(4):1053-6. View Abstract
Retrovirus-mediated transfer of human adenosine deaminase gene sequences into cells in culture and into murine hematopoietic cells in vivo. Proc Natl Acad Sci U S A. 1986 Apr; 83(8):2566-70. View Abstract
Pathogenesis of B cell lymphoma in a patient with AIDS. Blood. 1986 Mar; 67(3):612-5. View Abstract
Cloning the gene for the inherited disorder chronic granulomatous disease on the basis of its chromosomal location. Cold Spring Harb Symp Quant Biol. 1986; 51 Pt 1:177-83. View Abstract
Owl monkey gene mapping: the assignment of gene loci for catalase, beta-globin gene cluster, HRAS1, insulin, and parathyroid hormone. Cytogenet Cell Genet. 1986; 43(1-2):57-68. View Abstract
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First occurrence of Hb H in Hungary. Haematologia (Budap). 1986; 19(3):193-5. View Abstract
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Bone marrow transplantation for paroxysmal nocturnal hemoglobinuria: eradication of the PNH clone and documentation of complete lymphohematopoietic engraftment. Blood. 1985 Dec; 66(6):1247-50. View Abstract
Structure of the human phosphoglycerate kinase gene and the intron-mediated evolution and dispersal of the nucleotide-binding domain. Proc Natl Acad Sci U S A. 1985 Oct; 82(20):6965-9. View Abstract
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Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human beta-globin gene. EMBO J. 1985 Feb; 4(2):453-6. View Abstract
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Early pre-B cells from normal and X-linked agammaglobulinaemia produce C mu without an attached VH region. Nature. 1983 Jul 28-Aug 3; 304(5924):355-8. View Abstract
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