Search Results - "Vijay G. Sankaran"
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1
Scalable, multimodal profiling of chromatin accessibility, gene expression and protein levels in single cells
Published in Nature biotechnology (01-10-2021)“…Recent technological advances have enabled massively parallel chromatin profiling with scATAC-seq (single-cell assay for transposase accessible chromatin by…”
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2
Advances in understanding erythropoiesis: evolving perspectives
Published in British journal of haematology (01-04-2016)“…Summary Red blood cells (RBCs) are generated from haematopoietic stem and progenitor cells (HSPCs) through the step‐wise process of differentiation known as…”
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3
Lineage Tracing in Humans Enabled by Mitochondrial Mutations and Single-Cell Genomics
Published in Cell (07-03-2019)“…Lineage tracing provides key insights into the fate of individual cells in complex organisms. Although effective genetic labeling approaches are available in…”
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4
Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits
Published in Cell (02-06-2016)“…Genome-wide association studies (GWAS) have successfully identified thousands of associations between common genetic variants and human disease phenotypes, but…”
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5
MECOM Deficiency: from Bone Marrow Failure to Impaired B-Cell Development
Published in Journal of clinical immunology (01-08-2023)“…MECOM deficiency is a recently identified inborn error of immunity and inherited bone marrow failure syndrome caused by haploinsufficiency of the hematopoietic…”
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6
Hacking hematopoiesis - emerging tools for examining variant effects
Published in Disease models & mechanisms (01-03-2023)“…Hematopoiesis is a continuous process of blood and immune cell production. It is orchestrated by thousands of gene products that respond to extracellular…”
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7
Targeted therapeutic strategies for fetal hemoglobin induction
Published in Hematology (2011)“…Increased levels of fetal hemoglobin (HbF) can ameliorate the severity of the β-hemoglobin disorders, sickle cell disease (SCD) and β-thalassemia, which are…”
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The Genetic Landscape of Diamond-Blackfan Anemia
Published in American journal of human genetics (06-12-2018)“…Diamond-Blackfan anemia (DBA) is a rare bone marrow failure disorder that affects 7 out of 1,000,000 live births and has been associated with mutations in…”
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Pathogenic BCL11A variants provide insights into the mechanisms of human fetal hemoglobin silencing
Published in PLoS genetics (11-10-2021)“…Increased production of fetal hemoglobin (HbF) can ameliorate the severity of sickle cell disease and β-thalassemia. BCL11A has been identified as a key…”
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10
Interrogation of human hematopoiesis at single-cell and single-variant resolution
Published in Nature genetics (01-04-2019)“…Widespread linkage disequilibrium and incomplete annotation of cell-to-cell state variation represent substantial challenges to elucidating mechanisms of…”
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11
Transcriptional States and Chromatin Accessibility Underlying Human Erythropoiesis
Published in Cell reports (Cambridge) (11-06-2019)“…Human erythropoiesis serves as a paradigm of physiologic cellular differentiation. This process is also of considerable interest for better understanding…”
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A genetic disorder reveals a hematopoietic stem cell regulatory network co-opted in leukemia
Published in Nature immunology (01-01-2023)“…The molecular regulation of human hematopoietic stem cell (HSC) maintenance is therapeutically important, but limitations in experimental systems and…”
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13
Topological control of cytokine receptor signaling induces differential effects in hematopoiesis
Published in Science (American Association for the Advancement of Science) (24-05-2019)“…Although tunable signaling by G protein-coupled receptors can be exploited through medicinal chemistry, a comparable pharmacological approach has been lacking…”
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14
Control of human hemoglobin switching by LIN28B-mediated regulation of BCL11A translation
Published in Nature genetics (01-02-2020)“…Increased production of fetal hemoglobin (HbF) can ameliorate the severity of sickle cell disease and β-thalassemia 1 . BCL11A represses the genes encoding HbF…”
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15
The genetics of human hematopoiesis and its disruption in disease
Published in EMBO molecular medicine (01-08-2019)“…Hematopoiesis, or the process of blood cell production, is a paradigm of multi‐lineage cellular differentiation that has been extensively studied, yet in many…”
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16
Super interactive promoters provide insight into cell type-specific regulatory networks in blood lineage cell types
Published in PLoS genetics (31-01-2022)“…Existing studies of chromatin conformation have primarily focused on potential enhancers interacting with gene promoters. By contrast, the interactivity of…”
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17
Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation
Published in Cell (09-03-2017)“…Cytokines are classically thought to stimulate downstream signaling pathways through monotonic activation of receptors. We describe a severe anemia resulting…”
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18
Transcriptional divergence and conservation of human and mouse erythropoiesis
Published in Proceedings of the National Academy of Sciences - PNAS (18-03-2014)“…Mouse models have been used extensively for decades and have been instrumental in improving our understanding of mammalian erythropoiesis. Nonetheless, there…”
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DNA polymorphisms at the BCL11A, HBS1L-MYB, and β-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease
Published in Proceedings of the National Academy of Sciences - PNAS (19-08-2008)“…Sickle cell disease (SCD) is a debilitating monogenic blood disorder with a highly variable phenotype characterized by severe pain crises, acute clinical…”
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20
Clonal hematopoiesis in sickle cell disease
Published in The Journal of clinical investigation (15-02-2022)“…BACKGROUNDCurative gene therapies for sickle cell disease (SCD) are currently undergoing clinical evaluation. The occurrence of myeloid malignancies in these…”
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