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Gain of function NOTCH4 variants disrupt angiogenesis in systemic sclerosis.

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第一作者: Urvashi,Kaundal
第一单位: Scleroderma Genomics and Health Disparities Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.
作者单位: Scleroderma Genomics and Health Disparities Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA. [1] University of Michigan Scleroderma Program, Division of Rheumatology, University of Michigan, Ann Arbor, MI, USA. [2] Division of Rheumatology and Clinical Immunology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. [3] Utah Center for Genetic Discovery, Department of Human Genetics, University of Utah, Salt Lake City, UT, USA. [4] Laboratory for Accelerated Vascular Research, Department of Surgery, University of California, San Francisco, San Francisco, CA, USA. [5] Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. [6] Scleroderma Genomics and Health Disparities Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. [7] Johns Hopkins University, Division of Rheumatology, Baltimore, MD, USA. [8] Houston McGovern Medical School, University of Texas, Houston, TX, USA. [9] Division of Rheumatology and Immunology, Department of Medicine, Medical University of South Carolina, Charleston, SC, USA; Division of Rheumatology, Department of Medicine, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA. [10] Division of Rheumatology and Immunology, Department of Medicine, Medical University of South Carolina, Charleston, SC, USA. [11] School of Medicine, Georgetown University, Washington, DC, USA. [12] Department of Medicine, Rutgers- RWJ Medical School, Rheumatology Division, New Brunswick, NJ, USA. [13] New Orleans Scleroderma and Sarcoidosis Patient Care and Research Center, Louisiana State University and Tulane University Medical Schools, New Orleans, LA, USA. [14] Division of Rheumatology, Medical College of Georgia at Augusta University, Augusta, GA, USA. [15] Division of Rheumatology, Hospital for Special Surgery and New York Presbyterian-Weill Cornell Medical College, New York, NY, USA. [16] Genomics of Autoimmune Rheumatic Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. [17] Arthritis & Osteoporosis Consultants of the Carolinas, Charlotte, NC, USA. [18] Division of Rheumatology, University of Pennsylvania, Philadelphia, PA, USA. [19] Division of Rheumatology, Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA. [20] Office of Autoimmune Disease Research, Office of Research on Women's Health, Office of the Director, National Institutes of Health, Bethesda, MD, USA. [21] Division of Immunology and Rheumatology, Stanford University School of Medicine, Stanford, CA, USA; Palo Alto VA Health Care System, Palo Alto, CA, USA. [22] Division of Rheumatology, University of California, Los Angeles, CA, USA. [23] Section of Rheumatology, Department of Medicine, University of Chicago, Chicago, IL, USA. [24] Department of Rheumatology, Boston University School of Medicine, Boston, MA, USA. [25] Division of Rheumatology, NYU Langone Health, Lake Success, New York, NY, USA. [26] Division of Allergy, Immunology and Rheumatology, University of Rochester Medical Center, Rochester, NY, USA. [27] NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. [28] Genomic Technology Section, Office of Science and Technology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA. [29] Light Imaging Section, Office of Science and Technology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA. [30] Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. [31] Cell Signaling and Immunity Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA. [32] Division of Rheumatology, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA; Kao Autoimmunity Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. [33] Scleroderma Genomics and Health Disparities Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA; Novartis Biomedical Research, Novartis Campus, Basel 4002, Switzerland. Electronic address: pravitt@gmail.com. [34]
DOI 10.1016/j.ard.2025.12.015
PMID 41644364
发布时间 2026-05-20
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