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1Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency
المؤلفون: Bronson, P. G., Chang, D., Bhangale, T., Seldin, M. F., Ortmannl, W., Ferreira, R. C., Urcelay, E., Pereira, L. F., Martin, J., Plebani, A., Lougaris, V., Friman, Vanda, 1952, Freiberger, T., Litzman, J., Thon, V., Pan-Hammarstrom, Q., Hammarstrom, L., Graham, R. R., Behrens, T. W.
المصدر: Nature Genetics. 48(11):1425-1429
مصطلحات موضوعية: Immunology, Immunologi, Genetics, Genetik, Infectious Medicine, Infektionsmedicin, systemic-lupus-erythematosus, autophagy, cells, ifih1, gene, autoimmunity, risk, microbiota, mutations, immunity, Genetics & Heredity
الوصول الحر: https://gup.ub.gu.se/publication/246214Test
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المؤلفون: Ricardo C. Ferreira, Elena Urcelay, Timothy W. Behrens, Qiang Pan-Hammarström, Bjorn R. Ludviksson, Concepción Núñez, Peter K. Gregersen, Lennart Hammarström, Vesela Gateva, Miguel Fernández-Arquero, Annette Lee, Robert R. Graham, Ward Ortmann, Gumersindo Fontán, Hilary Clark, Katri Haimila, Sinikka Koskinen, Gudmundur H. Jorgensen, Lars Klareskog
المصدر: Nature Genetics. 42:777-780
مصطلحات موضوعية: Risk, Interferon-Induced Helicase, IFIH1, Genetic Linkage, Iceland, Autoimmunity, Genome-wide association study, Validation Studies as Topic, Selective IgA deficiency, Biology, medicine.disease_cause, Autoimmune Diseases, DEAD-box RNA Helicases, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Allele, Alleles, Finland, 030304 developmental biology, Sweden, 0303 health sciences, IgA Deficiency, medicine.disease, 3. Good health, Immunoglobulin A deficiency, Risk variant, Spain, Case-Control Studies, Immunology, Risk allele, Primary immunodeficiency, Genome-Wide Association Study, 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87fe823d9456999fdc2eaacd316972eeTest
https://doi.org/10.1038/ng.644Test -
3
المؤلفون: Andrew Paterson, Neeraj Kumar, Luis Castaño, Jinny Willis, Valdis Pirags, David Altshuler, Farren Briggs, Neil Walker, Ondrej Cinek, Helen Schuilenburg, Francisco Javier Ampudia Blasco, Claire Vandiedonck, Mark A. Hall, Ana M Wägner, Xiaoying Li, Flemming Pociot, Didac Mauricio, Vaidotas Urbanavicius, Jennifer Couper, Adam Kretowski, Deborah Smyth, Professor David Dunger, Federico Vázquez, Ian Nicholson, Ellen Schofield, John Todd, Angela Simpson, Ingrid Kockum, Mikael Knip, Tadej Battelino, Thomas Brodnicki, Patrick Concannon, Jesús Argente, Johnny Ludvigsson, Peter Colman, Gurvinder Kaur, Vincent Plagnol, Oliver Burren, Rohana Abdul Ghani, Marta Hernández, William McLaren, Alessandro Doria, Raquel Corripio, Stephen Rich, Daniel Metzger, Jesper Johannesen, Steven Willi, Cécile JULIER, Vallo Tillmann, Bart Van der Auwera
المساهمون: Pathology/molecular and cellular medicine, Diabetes Pathology & Therapy
المصدر: Nature genetics
مصطلحات موضوعية: Male, Candidate gene, Interferon-Induced Helicase, IFIH1, Endocrinology, Diabetes and Metabolism, Genome-wide association study, Protein Tyrosine Phosphatase, Non-Receptor Type 22/genetics, DEAD-box RNA Helicases, 0302 clinical medicine, Chromosomes, Human, Pair 17/genetics, HLA Antigens, Genotype, CTLA-4 Antigen, Chromosomes, Human, Pair 2/genetics, Genetics, 0303 health sciences, Antigens, CD/genetics, Chromosome Mapping, HLA Antigens/genetics, Polymorphism, Single Nucleotide/genetics, 3. Good health, Chromosomes, Human, Pair 1/genetics, DEAD-box RNA Helicases/genetics, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 2, Meta-analysis, Female, Algorithms, 030209 endocrinology & metabolism, Locus (genetics), CLEC16A, DNA/genetics, Biology, Polymorphism, Single Nucleotide, Risk Assessment, Article, PTPN22, 03 medical and health sciences, Meta-Analysis as Topic, Antigens, CD, medicine, Humans, Family, 030304 developmental biology, Type 1 diabetes, Siblings, Protein Tyrosine Phosphatase, Non-Receptor Type 22, DNA, medicine.disease, Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 1/epidemiology, Chromosome Mapping/methods, Chromosomes, Human, Pair 17, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e5da1ea4d48512559cd190de2484139Test
https://doi.org/10.1038/ng.381Test -
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المؤلفون: Catherine Vanhulle, Lynne A. Wolfe, Chumei Li, Eileen Baildam, Bertrand Isidor, John Tolmie, Yoandris del Toro Duany, Yanick J. Crow, Gabriella M A Forte, Gillian I. Rice, Simona Orcesi, Mondher Chouchane, Michael W. Beresford, Nuno Cordeiro, Beverley Anderson, Liesbeth De Waele, Pierre Lebon, Diana Rodriguez, James O'Sullivan, Marta Szybowska, Rolando Cimaz, Isabelle Desguerre, Giada Ariaudo, Manoj P. Menezes, Kate Webb, Robyn Whitney, Sun Hur, Simon G. Williams, Joyce Davidson, Russell C. Dale, Andrew Latchman, Laurence Faivre, Abigail Collins, Robert Robinson, Adeline Vanderver, Christiaan Scott, Iain B. McInnes, Enrica Riva, Cyril Mignot, Roberta Battini, José Pedro Vieira, Brigitte Bader-Meunier, Emma M. Jenkinson, Elisa Fazzi, Paolo Picco, Lieven Lagae, Elisabetta Salvatici, Manuela Casarano, Sameer M. Zuberi, Charles Marques Lourenço, Maria Margherita Mancardi, Alice Masurel-Paulet, John H. Livingston
المصدر: Nature Genetics; Vol 46
Nature Genetics
Nature genetics
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAPمصطلحات موضوعية: Models, Molecular, Interferon-Induced Helicase, IFIH1, Molecular Sequence Data, HDE NEU PED, Electrophoretic Mobility Shift Assay, Biology, medicine.disease_cause, Nervous System Malformations, Real-Time Polymerase Chain Reaction, Article, DEAD-box RNA Helicases, Immune system, Autoimmune Diseases of the Nervous System, Downregulation and upregulation, Analysis of Variance, Base Sequence, Exome, HEK293 Cells, Humans, Interferon Type I, Microsatellite Repeats, Mutation, Sequence Analysis, DNA, Signal Transduction, Spectrum Analysis, Phenotype, Genetics, Models, Interferon, medicine, Molecular, RNA, MDA5, DNA, Molecular biology, 3. Good health, Interferon Tipo I, Cancer research, Signal transduction, Sequence Analysis, Interferon type I, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d0ab15ef0ea89e7de71b0fd808541bfTest
https://pubmed.ncbi.nlm.nih.gov/25080300Test -
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المؤلفون: Luc J. Smink, Constantin Ionescu-Tirgoviste, Jason D. Cooper, Oliver S. Burren, Barry Widmer, Deborah J. Smyth, Neil Walker, David A. Savage, David B. Dunger, Cristian Guja, David Clayton, Sarah F. Field, John A. Todd, Rebecca Bailey
المصدر: Nature genetics. 38(6)
مصطلحات موضوعية: Genetics, IFIH1 Gene, Interferon-Induced Helicase, IFIH1, Genotype, Genome, Human, Single-nucleotide polymorphism, Locus (genetics), Genome-wide association study, Biology, Genome, Polymorphism, Single Nucleotide, Minor allele frequency, DEAD-box RNA Helicases, Diabetes Mellitus, Type 1, Chromosomes, Human, Pair 2, Humans, Gene, RNA Helicases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b8b05a9b79ef852bf44e2e534cb2414Test
https://pubmed.ncbi.nlm.nih.gov/16699517Test