Yanick J. Crow Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR1163 Institut Imagine Biography Publications Institution JoVE Articles Yanick J. Crow has not added a biography. If you are Yanick J. Crow and would like to personalize this page please email our Author Liaison for assistance. Publications Autosomal-dominant Early-onset Spastic Paraparesis with Brain Calcification Due to IFIH1 Gain-of-function Human Mutation. May, 2018 | Pubmed ID: 29782060 Sort Your Self Out! Cell. Feb, 2018 | Pubmed ID: 29425484 International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity Journal of Clinical Immunology. Jan, 2018 | Pubmed ID: 29226302 The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies Journal of Clinical Immunology. Jan, 2018 | Pubmed ID: 29226301 Type I Interferon-mediated Autoinflammation Due to DNase II Deficiency Nature Communications. Dec, 2017 | Pubmed ID: 29259162 Modeling of TREX1-Dependent Autoimmune Disease Using Human Stem Cells Highlights L1 Accumulation As a Source of Neuroinflammation Cell Stem Cell. Sep, 2017 | Pubmed ID: 28803918 Polymorphisms in IFIH1: the Good and the Bad Nature Immunology. 06, 2017 | Pubmed ID: 28632717 Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy Arthritis & Rheumatology (Hoboken, N.J.). 10, 2017 | Pubmed ID: 28605144 Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease Neuropediatrics. Jun, 2017 | Pubmed ID: 28561207 Brief Report: Blockade of TANK-Binding Kinase 1/IKKɛ Inhibits Mutant Stimulator of Interferon Genes (STING)-Mediated Inflammatory Responses in Human Peripheral Blood Mononuclear Cells Arthritis & Rheumatology (Hoboken, N.J.). 07, 2017 | Pubmed ID: 28426911 Treatment of Leukoencephalopathy With Calcifications and Cysts With Bevacizumab Pediatric Neurology. Jun, 2017 | Pubmed ID: 28424147 Detection of Interferon Alpha Protein Reveals Differential Levels and Cellular Sources in Disease The Journal of Experimental Medicine. May, 2017 | Pubmed ID: 28420733 Disease-associated Mutations Identify a Novel Region in Human STING Necessary for the Control of Type I Interferon Signaling The Journal of Allergy and Clinical Immunology. Aug, 2017 | Pubmed ID: 28087229 Familial and Syndromic Lupus Share the Same Phenotype As Other Early-onset Forms of Lupus Joint, Bone, Spine : Revue Du Rhumatisme. Oct, 2017 | Pubmed ID: 28039062 Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease Journal of Clinical Immunology. Feb, 2017 | Pubmed ID: 27943079 Leukoencephalopathy with Calcification and Cysts: A Cerebral Microangiopathy Caused by Mutations in SNORD118 Journal of the Neurological Sciences. Jan, 2017 | Pubmed ID: 27793341 Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus Arthritis & Rheumatology (Hoboken, N.J.). 01, 2017 | Pubmed ID: 27390188 Type I Interferon-mediated Monogenic Autoinflammation: The Type I Interferonopathies, a Conceptual Overview The Journal of Experimental Medicine. Nov, 2016 | Pubmed ID: 27821552 JAK Inhibition in STING-associated Interferonopathy Annals of the Rheumatic Diseases. Dec, 2016 | Pubmed ID: 27733349 Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond Neuropediatrics. Dec, 2016 | Pubmed ID: 27643693 Mutations in SNORD118 Cause the Cerebral Microangiopathy Leukoencephalopathy with Calcifications and Cysts Nature Genetics. 10, 2016 | Pubmed ID: 27571260 Erratum To: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey Journal of Clinical Immunology. Jul, 2016 | Pubmed ID: 27125509 A POT1 Mutation Implicates Defective Telomere End Fill-in and Telomere Truncations in Coats Plus Genes & Development. 04, 2016 | Pubmed ID: 27013236 Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey Journal of Clinical Immunology. Apr, 2016 | Pubmed ID: 26951490 ADAR1 Facilitates HIV-1 Replication in Primary CD4+ T Cells PloS One. 2015 | Pubmed ID: 26629815 CGMP-AMP Synthase Paves the Way to Autoimmunity Proceedings of the National Academy of Sciences of the United States of America. Oct, 2015 | Pubmed ID: 26450878 Novel Monogenic Diseases Causing Human Autoimmunity Current Opinion in Immunology. Dec, 2015 | Pubmed ID: 26262888 Mosaic Tetrasomy 9p: A Mendelian Condition Associated With Pediatric-Onset Overlap Myositis Pediatrics. Aug, 2015 | Pubmed ID: 26216333 Neuromyelitis Optica in a Child with Aicardi-Goutières Syndrome Neurology. Jul, 2015 | Pubmed ID: 26136517 Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With Polyangiitis JAMA Dermatology. Aug, 2015 | Pubmed ID: 25992765 Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 American Journal of Medical Genetics. Part A. Feb, 2015 | Pubmed ID: 25604658 Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition Journal of Child Neurology. Sep, 2015 | Pubmed ID: 25535058 Type I Interferonopathies: Mendelian Type I Interferon Up-regulation Current Opinion in Immunology. Feb, 2015 | Pubmed ID: 25463593 Inherited STING-activating Mutation Underlies a Familial Inflammatory Syndrome with Lupus-like Manifestations The Journal of Clinical Investigation. Dec, 2014 | Pubmed ID: 25401470 Basal Ganglia Calcification in a Patient with Beta-propeller Protein-associated Neurodegeneration Pediatric Neurology. Dec, 2014 | Pubmed ID: 25301227 Mutations in CECR1 Associated with a Neutrophil Signature in Peripheral Blood Pediatric Rheumatology Online Journal. 2014 | Pubmed ID: 25278816 Mutations in ADAR1, IFIH1, and RNASEH2B Presenting As Spastic Paraplegia Neuropediatrics. Dec, 2014 | Pubmed ID: 25243380 Assessment of Interferon-related Biomarkers in Aicardi-Goutières Syndrome Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a Case-control Study Lancet Neurology. Dec, 2013 | Pubmed ID: 24183309 Aicardi-Goutières Syndrome Handbook of Clinical Neurology. 2013 | Pubmed ID: 23622384 Type I Interferonopathies: a Novel Set of Inborn Errors of Immunity Annals of the New York Academy of Sciences. Nov, 2011 | Pubmed ID: 22129056 Lupus: How Much "complexity" is Really (just) Genetic Heterogeneity? Arthritis and Rheumatism. Dec, 2011 | Pubmed ID: 22127688 The Story of DNase II: a Stifled Death-wish Leads to Self-harm European Journal of Immunology. Sep, 2010 | Pubmed ID: 20706989 Aicardi-Goutieres Syndrome and Related Phenotypes: Linking Nucleic Acid Metabolism with Autoimmunity Human Molecular Genetics. Oct, 2009 | Pubmed ID: 19808788 Aicardi-Goutières Syndrome: an Important Mendelian Mimic of Congenital Infection Developmental Medicine and Child Neurology. Jun, 2008 | Pubmed ID: 18422679 Mutations in Genes Encoding Ribonuclease H2 Subunits Cause Aicardi-Goutières Syndrome and Mimic Congenital Viral Brain Infection Nature Genetics. Aug, 2006 | Pubmed ID: 16845400 Mutations in the Gene Encoding the 3'-5' DNA Exonuclease TREX1 Cause Aicardi-Goutières Syndrome at the AGS1 Locus Nature Genetics. Aug, 2006 | Pubmed ID: 16845398 Sviluppo e validazione di una singola molecola ultrasensibile di matrice digitale analisi enzima-collegata dell'immunosorbente per umana dell'interferone-α Alba Llibre*1,2, Vincent Bondet*1,2, Mathieu P. Rodero3, David Hunt4, Yanick J. Crow3,5, Darragh Duffy1,2 1Immunobiology of Dendritic Cells, Institut Pasteur, 2INSERM U1223, 3Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR1163, Institut Imagine, 4MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, 5Manchester Centre for Genomic Medicine, University of Manchester JoVE 57421 免疫与感染
Sviluppo e validazione di una singola molecola ultrasensibile di matrice digitale analisi enzima-collegata dell'immunosorbente per umana dell'interferone-α Alba Llibre*1,2, Vincent Bondet*1,2, Mathieu P. Rodero3, David Hunt4, Yanick J. Crow3,5, Darragh Duffy1,2 1Immunobiology of Dendritic Cells, Institut Pasteur, 2INSERM U1223, 3Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR1163, Institut Imagine, 4MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, 5Manchester Centre for Genomic Medicine, University of Manchester JoVE 57421 免疫与感染