Search Results - "Santostefano, Katherine E."
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Concise Review: Induced Pluripotent Stem Cell Research in the Era of Precision Medicine
Published in Stem cells (Dayton, Ohio) (01-03-2017)“…Recent advances in DNA sequencing technologies are revealing how human genetic variations associate with differential health risks, disease susceptibilities,…”
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CRISPR/Cas9 knockout of USP18 enhances type I IFN responsiveness and restricts HIV‐1 infection in macrophages
Published in Journal of leukocyte biology (13-02-2018)“…The IFN‐stimulated gene ubiquitin‐specific proteinase 18 (USP18) encodes a protein that negatively regulates T1 IFN signaling via stearic inhibition of JAK1…”
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Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy
Published in Human molecular genetics (15-07-2019)“…Abstract MEGF10 myopathy is a rare inherited muscle disease that is named after the causative gene, MEGF10. The classic phenotype, early onset myopathy,…”
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Isogenic Cellular Systems Model the Impact of Genetic Risk Variants in the Pathogenesis of Type 1 Diabetes
Published in Frontiers in endocrinology (Lausanne) (18-10-2017)“…At least 57 independent loci within the human genome confer varying degrees of risk for the development of type 1 diabetes (T1D). The majority of these…”
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Evaluation of commonly used ectoderm markers in iPSC trilineage differentiation
Published in Stem cell research (01-05-2019)“…Patient-derived induced pluripotent stem cells (iPSCs) have become a promising resource for exploring genetics of complex diseases, discovering new drugs, and…”
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Use of Induced Pluripotent Stem Cells to Build Isogenic Systems and Investigate Type 1 Diabetes
Published in Frontiers in endocrinology (Lausanne) (09-11-2021)“…Type 1 diabetes (T1D) is a disease that arises due to complex immunogenetic mechanisms. Key cell-cell interactions involved in the pathogenesis of T1D are…”
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Fibroblast Growth Factor Receptor 2 Homodimerization Rapidly Reduces Transcription of the Pluripotency Gene Nanog without Dissociation of Activating Transcription Factors
Published in The Journal of biological chemistry (31-08-2012)“…Nanog or Gata6-positive cells co-exist and are convertible within the inner cell mass of murine blastocysts and embryonic stem (ES) cells. Previous studies…”
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Vascular Smooth Muscle Cells From Hypertensive Patient‐Derived Induced Pluripotent Stem Cells to Advance Hypertension Pharmacogenomics
Published in Stem cells translational medicine (01-12-2015)“…Induced pluripotent stem cell (iPSC) technology provides a great interface to bring the cells of hyptertensive patients with their genomic data into the…”
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Generation of neural cells from DM1 induced pluripotent stem cells as cellular model for the study of central nervous system neuropathogenesis
Published in Cellular reprogramming (01-04-2013)“…Dystrophia myotonica type 1 (DM1) is an autosomal dominant multisystem disorder. The pathogenesis of central nervous system (CNS) involvement is poorly…”
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A pathologist’s perspective on induced pluripotent stem cells
Published in Laboratory investigation (01-10-2017)“…Induced pluripotent stem cell (iPSC) technology was originally developed in 2006. Essentially, it converts somatic cells into pluripotent stem cells by…”
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A practical guide to induced pluripotent stem cell research using patient samples
Published in Laboratory investigation (01-01-2015)“…Approximately 3 years ago, we assessed how patient induced pluripotent stem cell (iPSC) research could potentially impact human pathobiology studies in the…”
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ENTPD3 Marks Mature Stem Cell-Derived β-Cells Formed by Self-Aggregation In Vitro
Published in Diabetes (New York, N.Y.) (01-11-2021)“…Stem cell-derived β-like cells (sBC) carry the promise of providing an abundant source of insulin-producing cells for use in cell replacement therapy for…”
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Generation of Induced Pluripotent Stem Cells from a Female Patient with a Xq27.3-q28 Deletion to Establish Disease Models and Identify Therapies
Published in Cellular reprogramming (01-08-2020)“…Since it is extremely difficult to establish an animal model for human chromosomal abnormalities, induced pluripotent stem cells (iPSCs) provide a powerful…”
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E2f6-mediated repression of the meiotic Stag3 and Smc1β genes during early embryonic development requires Ezh2 and not the de novo methyltransferase Dnmt3b
Published in Epigenetics (01-08-2013)“…The E2f6 transcriptional repressor is an E2F-family member essential for the silencing of a group of meiosis-specific genes in somatic tissues. Although E2f6…”
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Disulfide bond disrupting agents activate the unfolded protein response in EGFR- and HER2-positive breast tumor cells
Published in Oncotarget (25-04-2017)“…Many breast cancer deaths result from tumors acquiring resistance to available therapies. Thus, new therapeutic agents are needed for targeting drug-resistant…”
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Efficient Gene Editing in Pluripotent Stem Cells by Bacterial Injection of Transcription Activator‐Like Effector Nuclease Proteins
Published in Stem cells translational medicine (01-08-2015)“…The method of bacterial type III secretion system (T3SS)‐mediated transcription activator‐like effector nuclease (TALEN) protein injection and transfection of…”
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182. Characterization and AAV-Mediated Correction of Xeroderma Pigmentosum-Cockayne Syndrome (XP/CS)
Published in Molecular therapy (01-05-2015)Get full text
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