Search Results - "Theodoris, Christina V."
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Human Disease Modeling Reveals Integrated Transcriptional and Epigenetic Mechanisms of NOTCH1 Haploinsufficiency
Published in Cell (12-03-2015)“…The mechanisms by which transcription factor haploinsufficiency alters the epigenetic and transcriptional landscape in human cells to cause disease are…”
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Network-based screen in iPSC-derived cells reveals therapeutic candidate for heart valve disease
Published in Science (American Association for the Advancement of Science) (12-02-2021)“…Mapping the gene-regulatory networks dysregulated in human disease would allow the design of network-correcting therapies that treat the core disease…”
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Learning the language of DNA
Published in Science (American Association for the Advancement of Science) (15-11-2024)“…A genomic foundation model broadly enables sequence modeling, prediction, and design With a vocabulary of just four nucleotides, the language of DNA encodes…”
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The ACVR1 R206H mutation found in fibrodysplasia ossificans progressiva increases human induced pluripotent stem cell-derived endothelial cell formation and collagen production through BMP-mediated SMAD1/5/8 signaling
Published in Stem cell research & therapy (17-08-2016)“…The Activin A and bone morphogenetic protein (BMP) pathways are critical regulators of the immune system and of bone formation. Inappropriate activation of…”
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Transfer learning enables predictions in network biology
Published in Nature (London) (15-06-2023)“…Mapping gene networks requires large amounts of transcriptomic data to learn the connections between genes, which impedes discoveries in settings with limited…”
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MIRA: joint regulatory modeling of multimodal expression and chromatin accessibility in single cells
Published in Nature methods (01-09-2022)“…Rigorously comparing gene expression and chromatin accessibility in the same single cells could illuminate the logic of how coupling or decoupling of these…”
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Long telomeres protect against age-dependent cardiac disease caused by NOTCH1 haploinsufficiency
Published in The Journal of clinical investigation (01-05-2017)“…Diseases caused by gene haploinsufficiency in humans commonly lack a phenotype in mice that are heterozygous for the orthologous factor, impeding the study of…”
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Interpretable model of CRISPR-Cas9 enzymatic reactions
Published in Nature Computational Science (01-12-2023)Get full text
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Race, Ethnicity, and Ancestry in Clinical Pathways: A Framework for Evaluation
Published in Pediatrics (Evanston) (01-12-2023)“…Clinical algorithms, or “pathways,” promote the delivery of medical care that is consistent and equitable. Race, ethnicity, and/or ancestry terms are sometimes…”
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NOTCH1 regulates matrix gla protein and calcification gene networks in human valve endothelium
Published in Journal of molecular and cellular cardiology (01-07-2015)“…Abstract Valvular and vascular calcification are common causes of cardiovascular morbidity and mortality. Developing effective treatments requires…”
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Machine-learning model makes predictions about network biology
Published in Nature (London) (31-05-2023)Get full text
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Long telomeres protect against age-dependent cardiac disease caused by NOTCH1 haploinsufficiency
Published in The Journal of clinical investigation (01-05-2017)“…Diseases caused by gene haploinsufficiency in humans commonly lack a phenotype in mice that are heterozygous for the orthologous factor, impeding the study of…”
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Abstract 18010: Induced Pluripotent Stem Cell-Based Modeling of Human NOTCH1 Mutations Reveals Novel Pathways Regulating Aortic Valve Disease
Published in Circulation (New York, N.Y.) (25-11-2014)“…Abstract only In humans, NOTCH1 mutations result in congenital heart defects including valve malformations and severe valve calcification in adults. Valve…”
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The Role of NOTCH1 Haploinsufficiency in Calcific Aortic Valve Disease
Published 2015“…The mechanisms by which transcription factor haploinsufficiency alters the epigenetic and transcriptional landscape in human cells to cause disease are…”
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Dissertation -
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How to Build the Virtual Cell with Artificial Intelligence: Priorities and Opportunities
Published 17-09-2024“…The cell is arguably the most fundamental unit of life and is central to understanding biology. Accurate modeling of cells is important for this understanding…”
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