Stuart Orkin, MD
Professor of Pediatrics, Harvard Medical School
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Stuart Orkin, MD
Professor of Pediatrics, Harvard Medical School
Medical Services
Languages
English
Education
Medical School
Harvard Medical School
Boston
MA
Internship
Boston Children's Hospital
Boston
MA
Residency
Boston Children's Hospital
Boston
MA
Fellowship
Boston Children's Hospital
Boston
MA
Media
Research
Gene therapy for sickle cell disease: The journey to a new treatment
Certifications
American Board of Pediatrics (General)
Publications
RNA Editors Sculpt the Transcriptome During Terminal Erythropoiesis. View Abstract
RNA Editors Sculpt the Transcriptome During Terminal Erythropoiesis. View Abstract
Redirecting E3 ubiquitin ligases for targeted protein degradation with heterologous recognition domains. View Abstract
Gene editing without ex vivo culture evades genotoxicity in human hematopoietic stem cells. View Abstract
A tetramer of BCL11A is required for stable protein production and fetal hemoglobin silencing. View Abstract
Structural insights into the DNA-binding mechanism of BCL11A: The integral role of ZnF6. View Abstract
The epigenetic state of the cell of origin defines mechanisms of leukemogenesis. View Abstract
Mechanistic and kinetic insights into transcription factor biology via acute protein depletion. View Abstract
Matrin3 mediates differentiation through stabilizing chromatin loop-domain interactions and YY1 mediated enhancer-promoter interactions. View Abstract
Structural Insights into the DNA-Binding Mechanism of BCL11A: The Integral Role of ZnF6. View Abstract
Transcriptional Repressor BCL11A in Erythroid Cells. View Abstract
Role of PDGFRA+ cells and a CD55+ PDGFRALo fraction in the gastric mesenchymal niche. View Abstract
Identifying quantitatively differential chromosomal compartmentalization changes and their biological significance from Hi-C data using DARIC. View Abstract
In vivo CRISPR/Cas9 screening identifies Pbrm1 as a regulator of myeloid leukemia development in mice. View Abstract
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. View Abstract
Identifying Quantitatively Differential Chromosomal Compartmentalization Changes and Their Biological Significance from Hi-C data using DARIC. View Abstract
Rapid-kinetics degron benchmarking reveals off-target activities and mixed agonism-antagonism of MYB inhibitors. View Abstract
Fetal Hemoglobin Regulation in Beta-Thalassemia. View Abstract
Leukemia core transcriptional circuitry is a sparsely interconnected hierarchy stabilized by incoherent feed-forward loops. View Abstract
Defining the structure, signals, and cellular elements of the gastric mesenchymal niche. View Abstract
Polycomb deficiency drives a FOXP2-high aggressive state targetable by epigenetic inhibitors. View Abstract
Evolution of nanobodies specific for BCL11A. View Abstract
A Cell-Permeant Nanobody-Based Degrader That Induces Fetal Hemoglobin. View Abstract
High-efficiency knock-in of degradable tags (dTAG) at endogenous loci in cell lines. View Abstract
Transcriptional Plasticity Drives Leukemia Immune Escape. View Abstract
Temporal resolution of gene derepression and proteome changes upon PROTAC-mediated degradation of BCL11A protein in erythroid cells. View Abstract
Unleashing Cell-Intrinsic Inflammation as a Strategy to Kill AML Blasts. View Abstract
CD49b identifies functionally and epigenetically distinct subsets of lineage-biased hematopoietic stem cells. View Abstract
Hypoxic, glycolytic metabolism is a vulnerability of B-acute lymphoblastic leukemia-initiating cells. View Abstract
Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1. View Abstract
Developmental maturation of the hematopoietic system controlled by a Lin28b-let-7-Cbx2 axis. View Abstract
A distinct core regulatory module enforces oncogene expression in KMT2A-rearranged leukemia. View Abstract
Transcription factor-mediated intestinal metaplasia and the role of a shadow enhancer. View Abstract
Inner nuclear protein Matrin-3 coordinates cell differentiation by stabilizing chromatin architecture. View Abstract
Mapping the evolving landscape of super-enhancers during cell differentiation. View Abstract
Dietary suppression of MHC class II expression in intestinal epithelial cells enhances intestinal tumorigenesis. View Abstract
A unified model of human hemoglobin switching through single-cell genome editing. View Abstract
Reactivation of a developmentally silenced embryonic globin gene. View Abstract
Indispensable epigenetic control of thymic epithelial cell development and function by polycomb repressive complex 2. View Abstract
Author Correction: Transcription factor competition at the ?-globin promoters controls hemoglobin switching. View Abstract
Transcription factor competition at the ?-globin promoters controls hemoglobin switching. View Abstract
MOLECULAR MEDICINE: Found in Translation. View Abstract
ARID4B is critical for mouse embryonic stem cell differentiation towards mesoderm and endoderm, linking epigenetics to pluripotency exit. View Abstract
Arid4b is critical for mouse embryonic stem cell differentiation towards mesoderm and endoderm, linking epigenetics to pluripotency exit. View Abstract
A saturating mutagenesis CRISPR-Cas9-mediated functional genomic screen identifies cis- and trans-regulatory elements of Oct4 in murine ESCs. View Abstract
Enhancer dependence of cell-type-specific gene expression increases with developmental age. View Abstract
An Engineered CRISPR-Cas9 Mouse Line for Simultaneous Readout of Lineage Histories and Gene Expression Profiles in Single Cells. View Abstract
An Engineered CRISPR-Cas9 Mouse Line for Simultaneous Readout of Lineage Histories and Gene Expression Profiles in Single Cells. View Abstract
Multiplexed capture of spatial configuration and temporal dynamics of locus-specific 3D chromatin by biotinylated dCas9. View Abstract
Live-animal imaging of native haematopoietic stem and progenitor cells. View Abstract
Control of human hemoglobin switching by LIN28B-mediated regulation of BCL11A translation. View Abstract
CUT&RUNTools: a flexible pipeline for CUT&RUN processing and footprint analysis. View Abstract
BORIS promotes chromatin regulatory interactions in treatment-resistant cancer cells. View Abstract
Rational targeting of a NuRD subcomplex guided by comprehensive in situ mutagenesis. View Abstract
TAF5L and TAF6L Maintain Self-Renewal of Embryonic Stem Cells via the MYC Regulatory Network. View Abstract
Extensive Recovery of Embryonic Enhancer and Gene Memory Stored in Hypomethylated Enhancer DNA. View Abstract
Single-Cell Analysis Identifies LY6D as a Marker Linking Castration-Resistant Prostate Luminal Cells to Prostate Progenitors and Cancer. View Abstract
Yap1 safeguards mouse embryonic stem cells from excessive apoptosis during differentiation. View Abstract
CRISPR-SURF: discovering regulatory elements by deconvolution of CRISPR tiling screen data. View Abstract
PRC2 loss induces chemoresistance by repressing apoptosis in T cell acute lymphoblastic leukemia. View Abstract
FAM210B is an erythropoietin target and regulates erythroid heme synthesis by controlling mitochondrial iron import and ferrochelatase activity. View Abstract
Emerging Genetic Therapy for Sickle Cell Disease. View Abstract
Polycomb Repressive Complex 2 is essential for development and maintenance of a functional TEC compartment. View Abstract
Canonical PRC2 function is essential for mammary gland development and affects chromatin compaction in mammary organoids. View Abstract
Author Correction: High-fat diet enhances stemness and tumorigenicity of intestinal progenitors. View Abstract
Downregulation of Endothelin Receptor B Contributes to Defective B Cell Lymphopoiesis in Trisomy 21 Pluripotent Stem Cells. View Abstract
Mapping the Mouse Cell Atlas by Microwell-Seq. View Abstract
The Polycomb-Dependent Epigenome Controls ß Cell Dysfunction, Dedifferentiation, and Diabetes. View Abstract
14q32 and let-7 microRNAs regulate transcriptional networks in fetal and adult human erythroblasts. View Abstract
Integrated design, execution, and analysis of arrayed and pooled CRISPR genome-editing experiments. View Abstract
Direct Promoter Repression by BCL11A Controls the Fetal to Adult Hemoglobin Switch. View Abstract
Dissecting super-enhancer hierarchy based on chromatin interactions. View Abstract
Mapping the Mouse Cell Atlas by Microwell-Seq. View Abstract
Genome-wide CRISPR-Cas9 Screen Identifies Leukemia-Specific Dependence on a Pre-mRNA Metabolic Pathway Regulated by DCPS. View Abstract
Regulation of embryonic haematopoietic multipotency by EZH1. View Abstract
Human genetic variation alters CRISPR-Cas9 on- and off-targeting specificity at therapeutically implicated loci. View Abstract
Recent progress in understanding and manipulating haemoglobin switching for the haemoglobinopathies. View Abstract
First critical repressive H3K27me3 marks in embryonic stem cells identified using designed protein inhibitor. View Abstract
PRMT1-Mediated Translation Regulation Is a Crucial Vulnerability of Cancer. View Abstract
Gene correction of HAX1 reversed Kostmann disease phenotype in patient-specific induced pluripotent stem cells. View Abstract
A molecular roadmap for induced multi-lineage trans-differentiation of fibroblasts by chemical combinations. View Abstract
A molecular roadmap for induced multi-lineage trans-differentiation of fibroblasts by chemical combinations. View Abstract
The 2017 ASPHO distinguished career award goes to Holcombe E. Grier, MD. View Abstract
Erythropoietin signaling regulates heme biosynthesis. View Abstract
Challenges and emerging directions in single-cell analysis. View Abstract
Reduced Erg Dosage Impairs Survival of Hematopoietic Stem and Progenitor Cells. View Abstract
EED orchestration of heart maturation through interaction with HDACs is H3K27me3-independent. View Abstract
Functional interrogation of non-coding DNA through CRISPR genome editing. View Abstract
Transcription control by the ENL YEATS domain in acute leukaemia. View Abstract
Variant-aware saturating mutagenesis using multiple Cas9 nucleases identifies regulatory elements at trait-associated loci. View Abstract
Characterization of genomic deletion efficiency mediated by clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 nuclease system in mammalian cells. View Abstract
A molecular roadmap for induced multi-lineage trans-differentiation of fibroblasts by chemical combinations. View Abstract
The histone demethylase UTX regulates the lineage-specific epigenetic program of invariant natural killer T cells. View Abstract
Strict in vivo specificity of the Bcl11a erythroid enhancer. View Abstract
CellMapper: rapid and accurate inference of gene expression in difficult-to-isolate cell types. View Abstract
Bcl11a Deficiency Leads to Hematopoietic Stem Cell Defects with an Aging-like Phenotype. View Abstract
Chronic Myelogenous Leukemia- Initiating Cells Require Polycomb Group Protein EZH2. View Abstract
Lineage-specific BCL11A knockdown circumvents toxicities and reverses sickle phenotype. View Abstract
Single-Cell Transcript Profiles Reveal Multilineage Priming in Early Progenitors Derived from Lgr5(+) Intestinal Stem Cells. View Abstract
Mathematical modeling of erythrocyte chimerism informs genetic intervention strategies for sickle cell disease. View Abstract
Analyzing CRISPR genome-editing experiments with CRISPResso. View Abstract
Loss of Ezh2 synergizes with JAK2-V617F in initiating myeloproliferative neoplasms and promoting myelofibrosis. View Abstract
The Public Repository of Xenografts Enables Discovery and Randomized Phase II-like Trials in Mice. View Abstract
Adenosine-to-inosine RNA editing by ADAR1 is essential for normal murine erythropoiesis. View Abstract
An Achilles' Heel for MLL-Rearranged Leukemias: Writers and Readers of H3 Lysine 36 Dimethylation. View Abstract
Hemoglobin genetics: recent contributions of GWAS and gene editing. View Abstract
Polycomb repressive complex 2 regulates skeletal growth by suppressing Wnt and TGF-ß signalling. View Abstract
MEDICINE. Paying for future success in gene therapy. View Abstract
Acquired Tissue-Specific Promoter Bivalency Is a Basis for PRC2 Necessity in Adult Cells. View Abstract
Corrigendum: LSD1 is essential for oocyte meiotic progression by regulating CDC25B expression in mice. View Abstract
Interferon-a signaling promotes embryonic HSC maturation. View Abstract
The Public Repository of Xenografts Enables Discovery and Randomized Phase II-like Trials in Mice. View Abstract
Customizing the genome as therapy for the ß-hemoglobinopathies. View Abstract
High-fat diet enhances stemness and tumorigenicity of intestinal progenitors. View Abstract
Ezh2 Controls an Early Hematopoietic Program and Growth and Survival Signaling in Early T Cell Precursor Acute Lymphoblastic Leukemia. View Abstract
Recent advances in globin research using genome-wide association studies and gene editing. View Abstract
Serum-Based Culture Conditions Provoke Gene Expression Variability in Mouse Embryonic Stem Cells as Revealed by Single-Cell Analysis. View Abstract
Transcription factors LRF and BCL11A independently repress expression of fetal hemoglobin. View Abstract
Genetic treatment of a molecular disorder: gene therapy approaches to sickle cell disease. View Abstract
Dynamic Control of Enhancer Repertoires Drives Lineage and Stage-Specific Transcription during Hematopoiesis. View Abstract
Polycomb Repressive Complex 2 Is a Barrier to KRAS-Driven Inflammation and Epithelial-Mesenchymal Transition in Non-Small-Cell Lung Cancer. View Abstract
Corrigendum: Failure to replicate the STAP cell phenomenon. View Abstract
Ezh2 regulates differentiation and function of natural killer cells through histone methyltransferase activity. View Abstract
LSD1 is essential for oocyte meiotic progression by regulating CDC25B expression in mice. View Abstract
SWI/SNF-mutant cancers depend on catalytic and non-catalytic activity of EZH2. View Abstract
The LSD1 Family of Histone Demethylases and the Pumilio Posttranscriptional Repressor Function in a Complex Regulatory Feedback Loop. View Abstract
Failure to replicate the STAP cell phenomenon. View Abstract
Hematopoietic stem cells develop in the absence of endothelial cadherin 5 expression. View Abstract
BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis. View Abstract
Hemoglobin switching's surprise: the versatile transcription factor BCL11A is a master repressor of fetal hemoglobin. View Abstract
Functional footprinting of regulatory DNA. View Abstract
EHMT1 and EHMT2 inhibition induces fetal hemoglobin expression. 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. View Abstract
Inactivation of Eed impedes MLL-AF9-mediated leukemogenesis through Cdkn2a-dependent and Cdkn2a-independent mechanisms in a murine model. View Abstract
miRNA-embedded shRNAs for Lineage-specific BCL11A Knockdown and Hemoglobin F Induction. View Abstract
Regulation of Peripheral Nerve Myelin Maintenance by Gene Repression through Polycomb Repressive Complex 2. View Abstract
Embryonic stem cells as sources of donor-independent platelets. View Abstract
BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations. View Abstract
Opposing Roles for the lncRNA Haunt and Its Genomic Locus in Regulating HOXA Gene Activation during Embryonic Stem Cell Differentiation. View Abstract
The mTORC1/4E-BP pathway coordinates hemoglobin production with L-leucine availability. View Abstract
Flow-induced protein kinase A-CREB pathway acts via BMP signaling to promote HSC emergence. View Abstract
2014 William Allan Award: A hematologist's pursuit of hemoglobin genetics. View Abstract
Angiopoietin-like proteins stimulate HSPC development through interaction with notch receptor signaling. View Abstract
Functional Proteomic Analysis of Repressive Histone Methyltransferase Complexes Reveals ZNF518B as a G9A Regulator. View Abstract
Developmental control of polycomb subunit composition by GATA factors mediates a switch to non-canonical functions. View Abstract
Scl binds to primed enhancers in mesoderm to regulate hematopoietic and cardiac fate divergence. View Abstract
Generation of genomic deletions in mammalian cell lines via CRISPR/Cas9. View Abstract
Complementary genomic approaches highlight the PI3K/mTOR pathway as a common vulnerability in osteosarcoma. View Abstract
Characterizing heterogeneity in leukemic cells using single-cell gene expression analysis. View Abstract
Mouse regulatory DNA landscapes reveal global principles of cis-regulatory evolution. View Abstract
A comparative encyclopedia of DNA elements in the mouse genome. View Abstract
Inflammatory signaling regulates embryonic hematopoietic stem and progenitor cell production. View Abstract
Myeloproliferative neoplasms can be initiated from a single hematopoietic stem cell expressing JAK2-V617F. View Abstract
TMEM14C is required for erythroid mitochondrial heme metabolism. View Abstract
Characterization of genomic deletion efficiency mediated by clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 nuclease system in mammalian cells. View Abstract
Reprogramming committed murine blood cells to induced hematopoietic stem cells with defined factors. View Abstract
Distinct, strict requirements for Gfi-1b in adult bone marrow red cell and platelet generation. View Abstract
Corepressor Rcor1 is essential for murine erythropoiesis. View Abstract
Analysis of chromatin-state plasticity identifies cell-type-specific regulators of H3K27me3 patterns. View Abstract
Calpain 2 activation of P-TEFb drives megakaryocyte morphogenesis and is disrupted by leukemogenic GATA1 mutation. View Abstract
Distinct and combinatorial functions of Jmjd2b/Kdm4b and Jmjd2c/Kdm4c in mouse embryonic stem cell identity. View Abstract
GATA1s induces hyperproliferation of eosinophil precursors in Down syndrome transient leukemia. View Abstract
Polycomb repressive complex 2 regulates normal hematopoietic stem cell function in a developmental-stage-specific manner. View Abstract
An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level. View Abstract
Mapping cellular hierarchy by single-cell analysis of the cell surface repertoire. View Abstract
Histone deacetylase inhibitors induce apoptosis in myeloid leukemia by suppressing autophagy. View Abstract
Targeted disruption of the EZH2-EED complex inhibits EZH2-dependent cancer. View Abstract
Delineating the mixed lineage leukemia gene expression network in hematopoietic stem cells. View Abstract
Histone demethylase Lsd1 represses hematopoietic stem and progenitor cell signatures during blood cell maturation. View Abstract
Corepressor-dependent silencing of fetal hemoglobin expression by BCL11A. View Abstract
ETV1 directs androgen metabolism and confers aggressive prostate cancer in targeted mice and patients. View Abstract
Genome-wide association studies of hematologic phenotypes: a window into human hematopoiesis. View Abstract
Sustained PU.1 levels balance cell-cycle regulators to prevent exhaustion of adult hematopoietic stem cells. View Abstract
The switch from fetal to adult hemoglobin. View Abstract
TiF1-gamma plays an essential role in murine hematopoiesis and regulates transcriptional elongation of erythroid genes. View Abstract
Altered hematopoiesis in trisomy 21 as revealed through in vitro differentiation of isogenic human pluripotent cells. View Abstract
Combinatorial assembly of developmental stage-specific enhancers controls gene expression programs during human erythropoiesis. View Abstract
Cyclin D3 coordinates the cell cycle during differentiation to regulate erythrocyte size and number. View Abstract
Reawakening fetal hemoglobin: prospects for new therapies for the ß-globin disorders. View Abstract
Scl represses cardiomyogenesis in prospective hemogenic endothelium and endocardium. View Abstract
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. 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. View Abstract
MAnorm: a robust model for quantitative comparison of ChIP-Seq data sets. View Abstract
Polycomb repressive complex 2 is required for MLL-AF9 leukemia. View Abstract
MicroRNA-21 integrates pathogenic signaling to control pulmonary hypertension: results of a network bioinformatics approach. View Abstract
A human stem cell model of early Alzheimer's disease pathology in Down syndrome. View Abstract
MicroRNA-21 promotes fibrosis of the kidney by silencing metabolic pathways. View Abstract
Haploinsufficiency of Dnmt1 impairs leukemia stem cell function through derepression of bivalent chromatin domains. View Abstract
Generation of a genomic reporter assay system for analysis of ?- and ß-globin gene regulation. View Abstract
PRC2 directly methylates GATA4 and represses its transcriptional activity. View Abstract
Dnmt3a silences hematopoietic stem cell self-renewal. View Abstract
Polycomb repressive complex 2 regulates normal development of the mouse heart. View Abstract
Embryonic stem cell-specific signatures in cancer: insights into genomic regulatory networks and implications for medicine. View Abstract
Zfp281 functions as a transcriptional repressor for pluripotency of mouse embryonic stem cells. View Abstract
Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing. View Abstract
Sox2 maintains self renewal of tumor-initiating cells in osteosarcomas. View Abstract
A functional element necessary for fetal hemoglobin silencing. 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. View Abstract
Loss of the retinoblastoma binding protein 2 (RBP2) histone demethylase suppresses tumorigenesis in mice lacking Rb1 or Men1. View Abstract
Chromatin connections to pluripotency and cellular reprogramming. View Abstract
Genome Medicine: stem cells, genomics and translational research. View Abstract
The erythroid/myeloid lineage fate paradigm takes a new player. View Abstract
Context-dependent function of "GATA switch" sites in vivo. View Abstract
Tet1 and Tet2 regulate 5-hydroxymethylcytosine production and cell lineage specification in mouse embryonic stem cells. View Abstract
Update on fetal hemoglobin gene regulation in hemoglobinopathies. View Abstract
MicroRNA-15a and -16-1 act via MYB to elevate fetal hemoglobin expression in human trisomy 13. View Abstract
A transient transgenic RNAi strategy for rapid characterization of gene function during embryonic development. View Abstract
Therapeutic levels of fetal hemoglobin in erythroid progeny of ß-thalassemic CD34+ cells after lentiviral vector-mediated gene transfer. View Abstract
Networking erythropoiesis. View Abstract
Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. View Abstract
Modifier genes in Mendelian disorders: the example of hemoglobin disorders. View Abstract
Epigenetic antagonism between polycomb and SWI/SNF complexes during oncogenic transformation. View Abstract
A Myc network accounts for similarities between embryonic stem and cancer cell transcription programs. View Abstract
Training program in cancer and blood diseases: Pediatric Hematology/Oncology Fellowship Program, Children's Hospital Boston/Dana-Farber Cancer Institute. View Abstract
Epigenetic memory in induced pluripotent stem cells. View Abstract
Differential roles of Sall4 isoforms in embryonic stem cell pluripotency. View Abstract
A single cis element maintains repression of the key developmental regulator Gata2. View Abstract
Developmental stage-specific interplay of GATA1 and IGF signaling in fetal megakaryopoiesis and leukemogenesis. View Abstract
Transcriptional silencing of fetal hemoglobin by BCL11A. View Abstract
Medicine. Sickle cell disease at 100 years. View Abstract
TIF1gamma controls erythroid cell fate by regulating transcription elongation. View Abstract
Sumoylation regulates interaction of FOG1 with C-terminal-binding protein (CTBP). View Abstract
Transcriptional silencing of {gamma}-globin by BCL11A involves long-range interactions and cooperation with SOX6. View Abstract
DNA methylation in adult stem cells: new insights into self-renewal. View Abstract
miR-125b-2 is a potential oncomiR on human chromosome 21 in megakaryoblastic leukemia. View Abstract
Advances in the understanding of haemoglobin switching. View Abstract
Perturbed hematopoiesis in the Tc1 mouse model of Down syndrome. View Abstract
Systematic tracking of cell fate changes. View Abstract
Musings on genome medicine: Hepatitis C. View Abstract
Jumonji modulates polycomb activity and self-renewal versus differentiation of stem cells. View Abstract
Musings on genome medicine: enzyme-replacement therapy of the lysosomal storage diseases. View Abstract
Insights into GATA-1-mediated gene activation versus repression via genome-wide chromatin occupancy analysis. View Abstract
Musings on genome medicine: Crohn's disease. View Abstract
Musings on genome medicine: the slow but inexorable process of medical care reform in the United States. View Abstract
DNA methyltransferase 1 is essential for and uniquely regulates hematopoietic stem and progenitor cells. View Abstract
Musings on genome medicine: the Obama effect redux. View Abstract
Developmental and species-divergent globin switching are driven by BCL11A. View Abstract
Translational isoforms of FOG1 regulate GATA1-interacting complexes. View Abstract
GATA-2 reinforces megakaryocyte development in the absence of GATA-1. View Abstract
TEL-AML1 corrupts hematopoietic stem cells to persist in the bone marrow and initiate leukemia. View Abstract
Musings on genome medicine: cholesterol and coronary artery disease. View Abstract
Musings on genome medicine: cancer genetics and the promise of effective treatment. View Abstract
Musings on genome medicine: gene therapy. View Abstract
A genome-wide RNAi screen identifies a new transcriptional module required for self-renewal. View Abstract
Use of in vivo biotinylation to study protein-protein and protein-DNA interactions in mouse embryonic stem cells. View Abstract
Musings on genome medicine: the Obama effect. View Abstract
Tandem affinity purification of protein complexes in mouse embryonic stem cells using in vivo biotinylation. View Abstract
Musings on genome medicine: abuse of genetic tests. View Abstract
Mef2C is a lineage-restricted target of Scl/Tal1 and regulates megakaryopoiesis and B-cell homeostasis. View Abstract
Musings on genome medicine: genome wide association studies. View Abstract
Glimpses of the epigenetic landscape. View Abstract
ADAR1 is essential for the maintenance of hematopoiesis and suppression of interferon signaling. View Abstract
Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. View Abstract
EZH1 mediates methylation on histone H3 lysine 27 and complements EZH2 in maintaining stem cell identity and executing pluripotency. View Abstract
Polycomb group proteins Ezh2 and Rnf2 direct genomic contraction and imprinted repression in early mouse embryos. View Abstract
Rb and hematopoiesis: stem cells to anemia. 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. View Abstract
GATA4 mediates gene repression in the mature mouse small intestine through interactions with friend of GATA (FOG) cofactors. View Abstract
Conditional mouse osteosarcoma, dependent on p53 loss and potentiated by loss of Rb, mimics the human disease. View Abstract
Requirement of Nanog dimerization for stem cell self-renewal and pluripotency. View Abstract
Targeted disruption of the basic Krüppel-like factor gene (Klf3) reveals a role in adipogenesis. View Abstract
An extended transcriptional network for pluripotency of embryonic stem cells. View Abstract
The emergence of hematopoietic stem cells is initiated in the placental vasculature in the absence of circulation. View Abstract
PRC1 and Suv39h specify parental asymmetry at constitutive heterochromatin in early mouse embryos. View Abstract
Antagonism of FOG-1 and GATA factors in fate choice for the mast cell lineage. View Abstract
Hematopoiesis: an evolving paradigm for stem cell biology. View Abstract
SnapShot: hematopoiesis. View Abstract
Oct4 dependence of chromatin structure within the extended Nanog locus in ES cells. View Abstract
Rb intrinsically promotes erythropoiesis by coupling cell cycle exit with mitochondrial biogenesis. View Abstract
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. View Abstract
A protein roadmap to pluripotency and faithful reprogramming. View Abstract
The transcriptional network controlling pluripotency in ES cells. View Abstract
Site-directed, virus-free, and inducible RNAi in embryonic stem cells. View Abstract
ETV6-NTRK3 fusion oncogene initiates breast cancer from committed mammary progenitors via activation of AP1 complex. View Abstract
Immunology: changed destiny. View Abstract
Stem cells down under-ISSCR 2007. View Abstract
Epigenetic regulation of hematopoietic differentiation by Gfi-1 and Gfi-1b is mediated by the cofactors CoREST and LSD1. View Abstract
Prostaglandin E2 regulates vertebrate haematopoietic stem cell homeostasis. View Abstract
Rb regulates interactions between hematopoietic stem cells and their bone marrow microenvironment. View Abstract
Gata4 is necessary for normal pulmonary lobar development. View Abstract
Developmental origin of a bipotential myocardial and smooth muscle cell precursor in the mammalian heart. View Abstract
A protein interaction network for pluripotency of embryonic stem cells. View Abstract
The hypomorphic Gata1low mutation alters the proliferation/differentiation potential of the common megakaryocytic-erythroid progenitor. View Abstract
The journey of developing hematopoietic stem cells. View Abstract
Rb is dispensable for self-renewal and multilineage differentiation of adult hematopoietic stem cells. View Abstract
Notch signaling requires GATA-2 to inhibit myelopoiesis from embryonic stem cells and primary hemopoietic progenitors. View Abstract
Characterization of a megakaryocyte-specific enhancer of the key hemopoietic transcription factor GATA1. View Abstract
Identification of distinct molecular phenotypes in acute megakaryoblastic leukemia by gene expression profiling. View Abstract
Reactions to the Hwang scandal. View Abstract
Phosphorylation of Gata1 at serine residues 72, 142, and 310 is not essential for hematopoiesis in vivo. View Abstract
Zinc-finger transcription factor Gfi-1: versatile regulator of lymphocytes, neutrophils and hematopoietic stem cells. View Abstract
Unraveling the transcriptional network controlling ES cell pluripotency. View Abstract
Specification of astrocytes by bHLH protein SCL in a restricted region of the neural tube. View Abstract
Chipping away at the embryonic stem cell network. View Abstract
The transcription factor GATA2 regulates differentiation of brown adipocytes. View Abstract
Phosphatidylinositol 3-kinase/Akt induced by erythropoietin renders the erythroid differentiation factor GATA-1 competent for TIMP-1 gene transactivation. View Abstract
Placenta as a site for hematopoietic stem cell development. View Abstract
Stem cells: the road not taken. View Abstract
Developmental stage-selective effect of somatically mutated leukemogenic transcription factor GATA1. View Abstract
Early asymmetry of gene transcription in embryonic human left and right cerebral cortex. View Abstract
Haploinsufficiency of GATA-2 perturbs adult hematopoietic stem-cell homeostasis. View Abstract
The placenta is a niche for hematopoietic stem cells. View Abstract
Tie2Cre-mediated gene ablation defines the stem-cell leukemia gene (SCL/tal1)-dependent window during hematopoietic stem-cell development. View Abstract
Gene targeting and transgenic strategies for the analysis of hematopoietic development in the mouse. View Abstract
Enforced expression of PU.1 rescues osteoclastogenesis from embryonic stem cells lacking Tal-1. View Abstract
Coregulation of GATA factors by the Friend of GATA (FOG) family of multitype zinc finger proteins. View Abstract
GATA-2 plays two functionally distinct roles during the ontogeny of hematopoietic stem cells. View Abstract
Toward improving Caenorhabditis elegans phenome mapping with an ORFeome-based RNAi library. View Abstract
Gfi-1 restricts proliferation and preserves functional integrity of haematopoietic stem cells. View Abstract
A critical role for eosinophils in allergic airways remodeling. View Abstract
Tel/Etv6 is an essential and selective regulator of adult hematopoietic stem cell survival. View Abstract
Decoding hematopoietic specificity in the helix-loop-helix domain of the transcription factor SCL/Tal-1. View Abstract
The zebrafish moonshine gene encodes transcriptional intermediary factor 1gamma, an essential regulator of hematopoiesis. View Abstract
Endogenous oncogenic K-ras(G12D) stimulates proliferation and widespread neoplastic and developmental defects. 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. View Abstract
Defective neural tube closure and anteroposterior patterning in mice lacking the LIM protein LMO4 or its interacting partner Deaf-1. View Abstract
More than blood, a novel gene required for mammalian postimplantation development. View Abstract
The SWI/SNF complex--chromatin and cancer. View Abstract
Coregulator-dependent facilitation of chromatin occupancy by GATA-1. View Abstract
Endothelial lineage-mediated loss of the GATA cofactor Friend of GATA 1 impairs cardiac development. View Abstract
Priming the hematopoietic pump. View Abstract
Functional overlap of GATA-1 and GATA-2 in primitive hematopoietic development. View Abstract
Combinatorial interactions of serpent, lozenge, and U-shaped regulate crystal cell lineage commitment during Drosophila hematopoiesis. View Abstract
Essential role for the peroxiredoxin Prdx1 in erythrocyte antioxidant defence and tumour suppression. View Abstract
GATA-1 as a regulator of mast cell differentiation revealed by the phenotype of the GATA-1low mouse mutant. View Abstract
Combinatorial effects of Flk1 and Tal1 on vascular and hematopoietic development in the mouse. View Abstract
Haematopoietic stem cells retain long-term repopulating activity and multipotency in the absence of stem-cell leukaemia SCL/tal-1 gene. View Abstract
Intrinsic requirement for zinc finger transcription factor Gfi-1 in neutrophil differentiation. View Abstract
The zinc finger transcription factor Gfi1, implicated in lymphomagenesis, is required for inner ear hair cell differentiation and survival. View Abstract
SCL/tal-1-dependent process determines a competence to select the definitive hematopoietic lineage prior to endothelial differentiation. View Abstract
Highly penetrant, rapid tumorigenesis through conditional inversion of the tumor suppressor gene Snf5. View Abstract
Gonadal differentiation, sex determination and normal Sry expression in mice require direct interaction between transcription partners GATA4 and FOG2. View Abstract
The SCL complex regulates c-kit expression in hematopoietic cells through functional interaction with Sp1. View Abstract
Expression of CD41 marks the initiation of definitive hematopoiesis in the mouse embryo. 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. View Abstract
Dysregulation of protein modification by ISG15 results in brain cell injury. View Abstract
Stem-cell competition. View Abstract
GATA-factor dependence of the multitype zinc-finger protein FOG-1 for its essential role in megakaryopoiesis. 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. View Abstract
Distinct domains of the GATA-1 cofactor FOG-1 differentially influence erythroid versus megakaryocytic maturation. View Abstract
Transcriptional regulation of erythropoiesis: an affair involving multiple partners. View Abstract
Interaction between FOG-1 and the corepressor C-terminal binding protein is dispensable for normal erythropoiesis in vivo. View Abstract
Hematopoiesis and stem cells: plasticity versus developmental heterogeneity. View Abstract
The zinc-finger proto-oncogene Gfi-1b is essential for development of the erythroid and megakaryocytic lineages. View Abstract
The search for the hemangioblast. View Abstract
The use of altered specificity mutants to probe specific protein-protein interactions involved in the activation of GATA-1 target genes. View Abstract
Heme-regulated eIF2alpha kinase (HRI) is required for translational regulation and survival of erythroid precursors in iron deficiency. View Abstract
Mutation of E2F2 in mice causes enhanced T lymphocyte proliferation, leading to the development of autoimmunity. View Abstract
E2F1 and E2F2 determine thresholds for antigen-induced T-cell proliferation and suppress tumorigenesis. View Abstract
The E2F1-3 transcription factors are essential for cellular proliferation. View Abstract
Friend of GATA-1 represses GATA-3-dependent activity in CD4+ T cells. View Abstract
Hematopoietic development: a balancing act. 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). View Abstract
Myc requires distinct E2F activities to induce S phase and apoptosis. 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. View Abstract
Primitive erythropoiesis in the Xenopus embryo: the synergistic role of LMO-2, SCL and GATA-binding proteins. View Abstract
Proper coronary vascular development and heart morphogenesis depend on interaction of GATA-4 with FOG cofactors. View Abstract
Activation of EGFP expression by Cre-mediated excision in a new ROSA26 reporter mouse strain. View Abstract
Inositol polyphosphate 4-phosphatase type I regulates cell growth downstream of transcription factor GATA-1. View Abstract
Haploinsufficiency of Snf5 (integrase interactor 1) predisposes to malignant rhabdoid tumors in mice. 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. View Abstract
Stem cell alchemy. View Abstract
PU.1 inhibits GATA-1 function and erythroid differentiation by blocking GATA-1 DNA binding. View Abstract
Antagonism between C/EBPbeta and FOG in eosinophil lineage commitment of multipotent hematopoietic progenitors. View Abstract
Diversification of haematopoietic stem cells to specific lineages. View Abstract
Sequential requirements for SCL/tal-1, GATA-2, macrophage colony-stimulating factor, and osteoclast differentiation factor/osteoprotegerin ligand in osteoclast development. View Abstract
Cdc42 is required for PIP(2)-induced actin polymerization and early development but not for cell viability. View Abstract
FOG-2, a cofactor for GATA transcription factors, is essential for heart morphogenesis and development of coronary vessels from epicardium. View Abstract
A downstream element in the human beta-globin promoter: evidence of extended sequence-specific transcription factor IID contacts. View Abstract
ABC-me: a novel mitochondrial transporter induced by GATA-1 during erythroid differentiation. View Abstract
Basic fibroblast growth factor positively regulates hematopoietic development. View Abstract
FOG acts as a repressor of red blood cell development in Xenopus. View Abstract
Fetal expression of a human Agamma globin transgene rescues globin chain imbalance but not hemolysis in EKLF null mouse embryos. View Abstract
Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. View Abstract
An essential role in liver development for transcription factor XBP-1. View Abstract
Specification of hematopoietic and vascular development by the bHLH transcription factor SCL without direct DNA binding. View Abstract
Apoptosis. Cutting red-cell production. 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. View Abstract
GATA-1 and erythropoietin cooperate to promote erythroid cell survival by regulating bcl-xL expression. View Abstract
Expression and genetic interaction of transcription factors GATA-2 and GATA-3 during development of the mouse central nervous system. View Abstract
Different sequence requirements for expression in erythroid and megakaryocytic cells within a regulatory element upstream of the GATA-1 gene. View Abstract
Consequences of GATA-1 deficiency in megakaryocytes and platelets. View Abstract
Improved reporter strain for monitoring Cre recombinase-mediated DNA excisions in mice. View Abstract
Intersections between blood cell development and leukemia genes. View Abstract
FOG-2: A novel GATA-family cofactor related to multitype zinc-finger proteins Friend of GATA-1 and U-shaped. View Abstract
Use of altered specificity mutants to probe a specific protein-protein interaction in differentiation: the GATA-1:FOG complex. View Abstract
Guanine-adenine ligation-mediated polymerase chain reaction in vivo footprinting. View Abstract
A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis. View Abstract
Rescue of the embryonic lethal hematopoietic defect reveals a critical role for GATA-2 in urogenital development. View Abstract
The TEL/ETV6 gene is required specifically for hematopoiesis in the bone marrow. View Abstract
Failure of megakaryopoiesis and arrested erythropoiesis in mice lacking the GATA-1 transcriptional cofactor FOG. 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. 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. View Abstract
CREB-binding protein cooperates with transcription factor GATA-1 and is required for erythroid differentiation. View Abstract
Unsuspected role for the T-cell leukemia protein SCL/tal-1 in vascular development. View Abstract
Embryonic stem cells and transgenic mice in the study of hematopoiesis. View Abstract
Transcription factor GATA-1 in megakaryocyte development. View Abstract
The LIM-domain binding protein Ldb1 and its partner LMO2 act as negative regulators of erythroid differentiation. View Abstract
p45 NF-E2 regulates expression of thromboxane synthase in megakaryocytes. View Abstract
A deletion mutation in the SH2-N domain of Shp-2 severely suppresses hematopoietic cell development. View Abstract
Regulation of the serum concentration of thrombopoietin in thrombocytopenic NF-E2 knockout mice. View Abstract
An upstream, DNase I hypersensitive region of the hematopoietic-expressed transcription factor GATA-1 gene confers developmental specificity in transgenic mice. View Abstract
Yolk sac angiogenic defect and intra-embryonic apoptosis in mice lacking the Ets-related factor TEL. View Abstract
FOG, a multitype zinc finger protein, acts as a cofactor for transcription factor GATA-1 in erythroid and megakaryocytic differentiation. View Abstract
A lineage-selective knockout establishes the critical role of transcription factor GATA-1 in megakaryocyte growth and platelet development. 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. 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. 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. View Abstract
Erythroid-cell-specific properties of transcription factor GATA-1 revealed by phenotypic rescue of a gene-targeted cell line. View Abstract
GATA-2 and GATA-3 regulate trophoblast-specific gene expression in vivo. View Abstract
Guanine-adenine ligation-mediated PCR in vivo footprinting. View Abstract
Genetics of erythropoiesis: induced mutations in mice and zebrafish. View Abstract
Silencing of human fetal globin expression is impaired in the absence of the adult beta-globin gene activator protein EKLF. View Abstract
Arrested development of embryonic red cell precursors in mouse embryos lacking transcription factor GATA-1. View Abstract
Development of the hematopoietic system. View Abstract
Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton. View Abstract
Thrombopoietin rescues in vitro erythroid colony formation from mouse embryos lacking the erythropoietin receptor. View Abstract
The T cell leukemia oncoprotein SCL/tal-1 is essential for development of all hematopoietic lineages. View Abstract
E2F-1 functions in mice to promote apoptosis and suppress proliferation. View Abstract
The transcriptional control of hematopoiesis. View Abstract
Complexity of the erythroid transcription factor NF-E2 as revealed by gene targeting of the mouse p18 NF-E2 locus. View Abstract
Estrogen-induced apoptosis by inhibition of the erythroid transcription factor GATA-1. View Abstract
Isolation and characterization of the cDNA encoding BKLF/TEF-2, a major CACCC-box-binding protein in erythroid cells and selected other cells. View Abstract
In vitro differentiation of murine embryonic stem cells. New approaches to old problems. View Abstract
Hematopoiesis: how does it happen? View Abstract
A functional initiator element in the human beta-globin promoter. View Abstract
Transcription factor GATA-1 permits survival and maturation of erythroid precursors by preventing apoptosis. View Abstract
Erythropoiesis and globin gene expression in mice lacking the transcription factor NF-E2. View Abstract
Dependence of globin gene expression in mouse erythroleukemia cells on the NF-E2 heterodimer. View Abstract
Regulation of globin gene expression in erythroid cells. View Abstract
Transcription factor NF-E2 is required for platelet formation independent of the actions of thrombopoietin/MGDF in megakaryocyte development. View Abstract
Ligand-dependent repression of the erythroid transcription factor GATA-1 by the estrogen receptor. View Abstract
Lethal beta-thalassaemia in mice lacking the erythroid CACCC-transcription factor EKLF. View Abstract
Expression of c-MYC under the control of GATA-1 regulatory sequences causes erythroleukemia in transgenic mice. View Abstract
Functional synergy and physical interactions of the erythroid transcription factor GATA-1 with the Krüppel family proteins Sp1 and EKLF. View Abstract
Self-association of the erythroid transcription factor GATA-1 mediated by its zinc finger domains. View Abstract
cDNA cloning of murine Nrf 2 gene, coding for a p45 NF-E2 related transcription factor. View Abstract
Defective signalling through the T- and B-cell antigen receptors in lymphoid cells lacking the vav proto-oncogene. View Abstract
Transcription factors and hematopoietic development. View Abstract
Absence of blood formation in mice lacking the T-cell leukaemia oncoprotein tal-1/SCL. View Abstract
Rescue of GATA-1-deficient embryonic stem cells by heterologous GATA-binding proteins. View Abstract
The C-terminal zinc finger of GATA-1 or GATA-2 is sufficient to induce megakaryocytic differentiation of an early myeloid cell line. View Abstract
GATA transcription factors: key regulators of hematopoiesis. View Abstract
Mouse model of X-linked chronic granulomatous disease, an inherited defect in phagocyte superoxide production. View Abstract
Development of hematopoietic cells lacking transcription factor GATA-1. View Abstract
Microcytic anemia in mk/mk mice is not corrected by retroviral-mediated gene transfer of wild-type p45 NF-E2. View Abstract
Hematopoietic development of vav-/- mouse embryonic stem cells. View Abstract
An early haematopoietic defect in mice lacking the transcription factor GATA-2. View Abstract
Sequence-specific DNA binding of individual cut repeats of the human CCAAT displacement/cut homeodomain protein. View Abstract
Phosphorylation of the erythroid transcription factor GATA-1. View Abstract
Regulation of the erythroid Kruppel-like factor (EKLF) gene promoter by the erythroid transcription factor GATA-1. View Abstract
Novel insights into erythroid development revealed through in vitro differentiation of GATA-1 embryonic stem cells. View Abstract
Transcriptional control of erythropoiesis. View Abstract
Infrequent mutation of the WT1 gene in 77 Wilms' Tumors. View Abstract
The ubiquitous subunit of erythroid transcription factor NF-E2 is a small basic-leucine zipper protein related to the v-maf oncogene. View Abstract
Gene targeting of X chromosome-linked chronic granulomatous disease locus in a human myeloid leukemia cell line and rescue by expression of recombinant gp91phox. View Abstract
Long-term in vivo expression of a murine adenosine deaminase gene in rhesus monkey hematopoietic cells of multiple lineages after retroviral mediated gene transfer into CD34+ bone marrow cells. View Abstract
Purification of the human NF-E2 complex: cDNA cloning of the hematopoietic cell-specific subunit and evidence for an associated partner. View Abstract
Loss of erythropoietin responsiveness in erythroid progenitors due to expression of the Evi-1 myeloid-transforming gene. View Abstract
DNA-binding specificity of GATA family transcription factors. View Abstract
Expression of mRNA for the GATA-binding proteins in human eosinophils and basophils: potential role in gene transcription. View Abstract
Erythroid transcription factor NF-E2 is a haematopoietic-specific basic-leucine zipper protein. View Abstract
Mouse microcytic anaemia caused by a defect in the gene encoding the globin enhancer-binding protein NF-E2. View Abstract
Regulation of the beta-globin locus. View Abstract
Mouse GATA-4: a retinoic acid-inducible GATA-binding transcription factor expressed in endodermally derived tissues and heart. View Abstract
Regional localization of the CCAAT displacement protein gene (CUTL1) to 7q22 by analysis of somatic cell hybrids. View Abstract
The SCL gene product: a positive regulator of erythroid differentiation. View Abstract
Splice site mutations are a common cause of X-linked chronic granulomatous disease. View Abstract
GATA-binding transcription factors in hematopoietic cells. View Abstract
Cell cycle-dependent initiation and lineage-dependent abrogation of GATA-1 expression in pure differentiating hematopoietic progenitors. View Abstract
In vivo protein-DNA interactions at hypersensitive site 3 of the human beta-globin locus control region. View Abstract
In vivo footprinting of the human alpha-globin locus upstream regulatory element by guanine and adenine ligation-mediated polymerase chain reaction. View Abstract
Rescue of erythroid development in gene targeted GATA-1- mouse embryonic stem cells. View Abstract
Sequence of the human GATA-1 promoter. View Abstract
Human CCAAT displacement protein is homologous to the Drosophila homeoprotein, cut. View Abstract
Human transcription factor GATA-2. Evidence for regulation of preproendothelin-1 gene expression in endothelial cells. View Abstract
Chronic granulomatous disease. View Abstract
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. View Abstract
GATA-binding transcription factors in mast cells regulate the promoter of the mast cell carboxypeptidase A gene. View Abstract
Expression of GATA-binding proteins during embryonic development in Xenopus laevis. View Abstract
Activation of the erythropoietin receptor promoter by transcription factor GATA-1. View Abstract
Targeting of transgene expression to monocyte/macrophages by the gp91-phox promoter and consequent histiocytic malignancies. View Abstract
CCAAT displacement protein as a repressor of the myelomonocytic-specific gp91-phox gene promoter. View Abstract
Restriction of neuroblastoma to the prostate gland in transgenic mice. View Abstract
Regulated expression of endothelin 1 in glomerular capillary endothelial cells. View Abstract
Functional analysis and in vivo footprinting implicate the erythroid transcription factor GATA-1 as a positive regulator of its own promoter. View Abstract
Human GATA-3: a lineage-restricted transcription factor that regulates the expression of the T cell receptor alpha gene. View Abstract
Linkage of the erythroid transcription factor gene (Gf-1) to the proximal region of the X chromosome of mice. View Abstract
Erythroid differentiation in chimaeric mice blocked by a targeted mutation in the gene for transcription factor GATA-1. View Abstract
Restoration of phagocyte function by interferon-gamma in X-linked chronic granulomatous disease occurs at the level of a progenitor cell. View Abstract
Cell-specific transcription and cell differentiation in the erythroid lineage. View Abstract
Preparing for the next generation. View Abstract
Regulated expression of globin chains and the erythroid transcription factor GATA-1 during erythropoiesis in the developing mouse. View Abstract
Globin gene regulation and switching: circa 1990. View Abstract
Alternatively spliced platelet-derived growth factor A-chain transcripts are not tumor specific but encode normal cellular proteins. View Abstract
Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease. View Abstract
Transcriptional activation and DNA binding by the erythroid factor GF-1/NF-E1/Eryf 1. View Abstract
Activity and tissue-specific expression of the transcription factor NF-E1 multigene family. View Abstract
A nonerythroid GATA-binding protein is required for function of the human preproendothelin-1 promoter in endothelial cells. View Abstract
Structure and transcription of the mouse erythropoietin receptor gene. View Abstract
Expression of an erythroid transcription factor in megakaryocytic and mast cell lineages. View Abstract
Increased platelet-derived growth factor A-chain expression in human uterine smooth muscle cells during the physiologic hypertrophy of pregnancy. View Abstract
Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping. View Abstract
Targeting of transgene expression to monocytes by cytochrome b heavy chain gene 5'-flanking sequences induces histiocytic malignancies. View Abstract
A rapid method for characterizing transgenic mice. View Abstract
Gene transfer into murine hematopoietic stem cells and bone marrow stromal cells. View Abstract
The major human erythroid DNA-binding protein (GF-1): primary sequence and localization of the gene to the X chromosome. View Abstract
A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease. View Abstract
Association of a Ras-related protein with cytochrome b of human neutrophils. View Abstract
Long-term expression of human adenosine deaminase in mice transplanted with retrovirus-infected hematopoietic stem cells. View Abstract
Aberrant expression of platelet-derived growth factor A-chain cDNAs due to cryptic splicing of RNA transcripts in COS-1 cells. View Abstract
The polymerase chain reaction colony miniprep. View Abstract
Cloning of cDNA for the major DNA-binding protein of the erythroid lineage through expression in mammalian cells. View Abstract
Rapid amplification of lambda gt11 bacteriophage library inserts from plaques using the polymerase chain reaction (PCR). View Abstract
Absence of both the 91kD and 22kD subunits of human neutrophil cytochrome b in two genetic forms of chronic granulomatous disease. View Abstract
Increased gamma-globin expression in a nondeletion HPFH mediated by an erythroid-specific DNA-binding factor. View Abstract
Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene. View Abstract
Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency. View Abstract
X-linked chronic granulomatous disease: more than two years later. View Abstract
Molecular genetics of chronic granulomatous disease. View Abstract
Saudi Arabian sickle cell anemia. A molecular approach. View Abstract
An erythroid-specific DNA binding factor mediates increased gamma-globin expression in hereditary persistence of fetal hemoglobin (HPFH). View Abstract
Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype. View Abstract
Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon gamma. View Abstract
Induction of phagocyte cytochrome b heavy chain gene expression by interferon gamma. View Abstract
Expression of the X-CGD gene during induced differentiation of myeloid leukemia cell line HL-60. View Abstract
Chronic granulomatous disease. Molecular genetics. View Abstract
Primary structure and unique expression of the 22-kilodalton light chain of human neutrophil cytochrome b. View Abstract
Platelet-derived growth factor A chain: gene structure, chromosomal location, and basis for alternative mRNA splicing. View Abstract
The propeptide of von Willebrand factor independently mediates the assembly of von Willebrand multimers. View Abstract
The human von Willebrand factor gene. Structure of the 5' region. View Abstract
Molecular genetics of chronic granulomatous disease. View Abstract
Localization of the human X-linked gene for chronic granulomatous disease to the mouse X chromosome: implications for X-chromosome evolution. View Abstract
Gene therapy of somatic cells: status and prospects. View Abstract
Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus. View Abstract
Active human erythropoietin expressed in insect cells using a baculovirus vector: a role for N-linked oligosaccharide. View Abstract
Genetic diagnosis by DNA analysis: progress through amplification. View Abstract
Retrovirus-mediated gene transfer of human adenosine deaminase: expression of functional enzyme in murine hematopoietic stem cells in vivo. View Abstract
Recombinant interferon gamma augments phagocyte superoxide production and X-chronic granulomatous disease gene expression in X-linked variant chronic granulomatous disease. View Abstract
Clonal analysis using recombinant DNA probes from the X-chromosome. View Abstract
An alpha-globin gene initiation codon mutation in a black family with HbH disease. View Abstract
Analysis of hemoglobin F production in Saudi Arabian families with sickle cell anemia. View Abstract
Alternative RNA splicing affects function of encoded platelet-derived growth factor A chain. View Abstract
The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex. View Abstract
Molecular analysis of the high-hemoglobin-F phenotype in Saudi Arabian sickle cell anemia. View Abstract
"Forward" and "reverse" genetics of inherited human disorders: the thalassemia syndromes and chronic granulomatous disease. View Abstract
Transfer and expression of human ADA in murine hematopoietic stem cells. View Abstract
Analysis of high fetal hemoglobin production in sickle cell anemia patients from the Eastern Province of Saudi Arabia. View Abstract
Reverse genetics and human disease. View Abstract
Structure of pre-pro-von Willebrand factor and its expression in heterologous cells. View Abstract
Plasma and cytoplasmic gelsolins are encoded by a single gene and contain a duplicated actin-binding domain. View Abstract
Nucleotide sequence of pre-pro-von Willebrand factor cDNA. View Abstract
On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups. View Abstract
Molecular genetics and potential gene therapy. View Abstract
Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location. View Abstract
Characterization of a spontaneous mutation to a beta-thalassemia allele. View Abstract
Propolypeptide of von Willebrand factor circulates in blood and is identical to von Willebrand antigen II. View Abstract
DNA linkage analysis of X chromosome-linked chronic granulomatous disease. View Abstract
Exon/intron organization of the genes coding for the delta chains of the human and murine T-cell receptor/T3 complex. View Abstract
High fetal hemoglobin production in sickle cell anemia in the eastern province of Saudi Arabia is genetically determined. View Abstract
Somatic gene therapy. Current status and future prospects. View Abstract
Retrovirus-mediated transfer of human adenosine deaminase gene sequences into cells in culture and into murine hematopoietic cells in vivo. View Abstract
Pathogenesis of B cell lymphoma in a patient with AIDS. View Abstract
Cloning the gene for the inherited disorder chronic granulomatous disease on the basis of its chromosomal location. View Abstract
Owl monkey gene mapping: the assignment of gene loci for catalase, beta-globin gene cluster, HRAS1, insulin, and parathyroid hormone. View Abstract
Expression defects of mutant human adenosine deaminase. View Abstract
First occurrence of Hb H in Hungary. View Abstract
Post-meiotic transcription of phosphoglycerate-kinase 2 in mouse testes. View Abstract
Bone marrow transplantation for paroxysmal nocturnal hemoglobinuria: eradication of the PNH clone and documentation of complete lymphohematopoietic engraftment. View Abstract
Structure of the human phosphoglycerate kinase gene and the intron-mediated evolution and dispersal of the nucleotide-binding domain. View Abstract
Intron structure of the human antithrombin III gene differs from that of other members of the serine protease inhibitor superfamily. View Abstract
Cultured human endothelial cells express platelet-derived growth factor B chain: cDNA cloning and structural analysis. View Abstract
Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency. View Abstract
Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization. View Abstract
The human phosphoglycerate kinase multigene family. HLA-associated sequences and an X-linked locus containing a processed pseudogene and its functional counterpart. View Abstract
Phenotype of recovering lymphoid cell populations after marrow transplantation. View Abstract
Assignment of the gene coding for the T3-delta subunit of the T3-T-cell receptor complex to the long arm of human chromosome 11 and to mouse chromosome 9. View Abstract
Transient expression of human adenosine deaminase cDNAs: identification of a nonfunctional clone resulting from a single amino acid substitution. View Abstract
Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human beta-globin gene. View Abstract
Origin of cell populations after bone marrow transplantation. Analysis using DNA sequence polymorphisms. View Abstract
cDNA and amino acid sequence of human adenosine deaminase. View Abstract
DNA polymorphism and molecular pathology of the human globin gene clusters. View Abstract
In vivo transcription of a human antithrombin III "minigene". View Abstract
Activity of X-linked genes in stem and differentiated Mus musculus X Mus caroli hybrid cells. View Abstract
Isolation of cDNA clones encoding the 20K T3 glycoprotein of human T-cell receptor complex. View Abstract
Human adenosine deaminase. cDNA and complete primary amino acid sequence. View Abstract
Molecular analysis of human disease: dissection of beta-thalassemia. View Abstract
Hydroxyurea enhances fetal hemoglobin production in sickle cell anemia. View Abstract
Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC. View Abstract
Abnormal processing of beta Knossos RNA. View Abstract
Quantification of the close association between DNA haplotypes and specific beta-thalassaemia mutations in Mediterraneans. View Abstract
Fetal hemoglobin synthesis in erythroid cultures in hereditary persistence of fetal hemoglobin and beta o-thalassemia. View Abstract
Development of homozygosity for chromosome 11p markers in Wilms' tumour. View Abstract
beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. View Abstract
Localization of the beta-globin gene by chromosomal in situ hybridization. View Abstract
Molecular characterization of seven beta-thalassemia mutations in Asian Indians. View Abstract
Prenatal diagnosis of hemoglobin disorders by DNA analysis. View Abstract
Restriction site polymorphism in the phosphoglycerate kinase gene on the X chromosome. View Abstract
The mutation and polymorphism of the human beta-globin gene and its surrounding DNA. View Abstract
Hydroxyurea increases fetal hemoglobin production in sickle cell anemia. View Abstract
Boundaries of gene conversion within the duplicated human alpha-globin genes. Concerted evolution by segmental recombination. View Abstract
Molecular cloning of human adenosine deaminase gene sequences. View Abstract
beta-Thalassemia due to a deletion of the nucleotide which is substituted in the beta S-globin gene. View Abstract
ATA box transcription mutation in beta-thalassemia. View Abstract
Isolation of a cDNA clone for human antithrombin III. View Abstract
Early pre-B cells from normal and X-linked agammaglobulinaemia produce C mu without an attached VH region. View Abstract
Molecular heterogeneity of inherited antithrombin III deficiency. View Abstract
Inactivation of an acceptor RNA splice site by a short deletion in beta-thalassemia. View Abstract
The molecular basis for the clinical diversity of beta thalassaemia in Cypriots. View Abstract
The entire beta-globin gene cluster is deleted in a form of gamma delta beta-thalassemia. View Abstract
Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes. View Abstract
Direct detection of the common Mediterranean beta-thalassemia gene with synthetic DNA probes. An alternative approach for prenatal diagnosis. View Abstract
Controlling the fetal globin switch in man. View Abstract
Isolation and DNA sequence of a full-length cDNA clone for human X chromosome-encoded phosphoglycerate kinase. View Abstract
Isolation of DNA fragments from chromosome 13. View Abstract
Structural and functional defects in beta-thalassemia. View Abstract
Polymorphism and molecular pathology of the human beta-globin gene. View Abstract
Characterization of the homopolymer tailing reaction catalyzed by terminal deoxynucleotidyl transferase. Implications for the cloning of cDNA. View Abstract
Abnormal RNA processing due to the exon mutation of beta E-globin gene. View Abstract
Duplication followed by deletion accounts for the structure of an Indian deletion beta (0)-thalassemia gene. View Abstract
Evidence for multiple origins of the beta E-globin gene in Southeast Asia. View Abstract
Improved detection of the sickle mutation by DNA analysis: application to prenatal diagnosis. View Abstract
Abnormal RNA splicing causes one form of alpha thalassemia. View Abstract
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. View Abstract
Genetic diagnosis of the fetus. View Abstract
Isolation of mouse x-chromosome specific DNA from an x-enriched lambda phage library derived from flow sorted chromosomes. View Abstract
Prenatal analysis of human DNA-sequence variation. View Abstract
Nonsense and frameshift mutations in beta 0-thalassemia detected in cloned beta-globin genes. View Abstract
Mutation in an intervening sequence splice junction in man. View Abstract
The duplicated human alpha-globin genes: their relative expression as measured by RNA analysis. View Abstract
Heterogeneity of DNA deletion in gamma delta beta-thalassemia. View Abstract
The molecular genetics of thalassemia. View Abstract
The 3' untranslated regions of the duplicated human alpha-globin genes are unexpectedly divergent. View Abstract
Partial deletion of the alpha-globin structural gene in human alpha-thalassaemia. View Abstract
Cloning and direct examination of a structurally abnormal human beta 0-thalassemia globin gene. View Abstract
Specific abnormalities of globin gene organization in the thalassemia syndromes. View Abstract
The alpha thalassemias. View Abstract
Prenatal diagnosis of hemoglobinopathies: the New England approach. View Abstract
Precise localization of human beta-globin gene complex on chromosome 11. View Abstract
Prenatal diagnosis of hemoglobinopathies. View Abstract
Deletion of the A gamma-globin gene in G gamma-delta beta-thalassemia. View Abstract
The molecular basis of alpha-thalassemias: frequent occurrence of dysfunctional alpha loci among non-Asians with Hb H disease. View Abstract
Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia. View Abstract
The duplicated human alpha globin genes lie close together in cellular DNA. View Abstract
Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion. View Abstract
Fidelity of globin ribonucleic acid synthesis in vitro by isolated nuclei: asymmetric gene expression. View Abstract
Selective restriction endonuclease cleavage of human globin genes. View Abstract
Differentiation of murine erythroleukemic (Friend) cells: an in vitro model of erythropoiesis. View Abstract
In vitro synthesis of a DNA probe for antisense globin sequences. View Abstract
Globin RNA synthesis in vitro by isolated erythroleukemic cell nuclei: direct evidence for increased transcription during erythroid differentiation. View Abstract
The thalassemias. View Abstract
The molecular genetics of thalassemia. View Abstract
Studies on the overproduction of dihydrofolate reductase by variant hamster cells in culture. View Abstract
Differentiation of erythroleukemic cells in the presence of inhibitors of DNA synthesis. View Abstract
Differential expression of alpha- and beta-globin genes during differentiation of cultured erythroleukemic cells. View Abstract
Differentiation in erythroleukemic cells and their somatic hybrids. View Abstract
Lambda-chain production in human lymphoblast-mouse fibroblast hybrids. View Abstract
Mutagenesis to aminopterin resistance in cultured hamster cells. View Abstract
Extrinsic cotton effects in dye-bovine plasma albumin adducts. View Abstract