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المؤلفون: F. Bogazzi, Giorgio Radetti, Mariacarolina Salerno, B. Rees Smith, Stefano Masiero, L. de Sanctis, F. Presotto, Carla Giordano, Roberto Perniola, Valentina Camozzi, C. Betterle, Carla Scaroni, Antonella Meloni, Sarah Black, Francesca Pigliaru, Chiara Sabbadin, Alessandra Fierabracci, Carla Bizzarri, Marco Cappa, Garvin Weber, Donatella Capalbo, Susi Barollo, Jadwiga Furmaniak, Mariella Valenzise, Antonio Stigliano, A. Crinò, N. A. Greggio, Riccardo Scarpa, Silvia Garelli, Uberto Pagotto, M. Dalla Costa, A. De Bellis, Iacopo Chiodini, Shu Chen, Beatrice Rubin
المساهمون: Garelli, S., Dalla Costa, M., Sabbadin, C., Barollo, S., Rubin, B., Scarpa, R., Masiero, S., Fierabracci, A., Bizzarri, C., Crino, A., Cappa, M., Valenzise, M., Meloni, A., De Bellis, A. M., Giordano, C., Presotto, F., Perniola, R., Capalbo, D., Salerno, M., Stigliano, A., Radetti, G., Camozzi, V., Greggio, N. A., Bogazzi, F., Chiodini, I., Pagotto, U., Black, S. K., Chen, S., Rees Smith, B., Furmaniak, J., Weber, G., Pigliaru, F., De Sanctis, L., Scaroni, C., Betterle, C., Garelli S., Dalla Costa M., Sabbadin C., Barollo S., Rubin B., Scarpa R., Masiero S., Fierabracci A., Bizzarri C., Crino A., Cappa M., Valenzise M., Meloni A., De Bellis A.M., Giordano C., Presotto F., Perniola R., Capalbo D., Salerno M.C., Stigliano A., Radetti G., Camozzi V., Greggio N.A., Bogazzi F., Chiodini I., Pagotto U., Black S.K., Chen S., Rees Smith B., Furmaniak J., Weber G., Pigliaru F., De Sanctis L., Scaroni C., Betterle C., Garelli, S, Dalla Costa, M, Sabbadin, C, Barollo, S, Rubin, B, Scarpa, R, Masiero, S, Fierabracci, A, Bizzarri, C, Crinò, A, Cappa, M, Valenzise, M, Meloni, A, De Bellis, A M, Giordano, C, Presotto, F, Perniola, R, Capalbo, D, Salerno, M C, Stigliano, A, Radetti, G, Camozzi, V, Greggio, N A, Bogazzi, F, Chiodini, I, Pagotto, U, Black, S K, Chen, S, Rees Smith, B, Furmaniak, J, Weber, G, Pigliaru, F, De Sanctis, L, Scaroni, C, Betterle, C
المصدر: Journal of Endocrinological Investigation
مصطلحات موضوعية: Male, Transcription Factor, Endocrinology, Diabetes and Metabolism, Autoimmune hepatitis, Gene mutation, Gastroenterology, Chronic mucocutaneous candidiasis, Endocrinology, Addison Disease, Autoimmune Polyglandular Syndrome type 1 (APS-1), Prevalence, Medicine, Polyendocrinopathies, Autoimmune, Candidiasis, Chronic Mucocutaneou, Addison’s disease, AIRE gene mutations, Autoimmune Polyglandular Syndrome type 1 (APS-1), Autoimmune-poly-endocrine-candidiasis-ectodermal-dystrophy (APECED), Chronic hypoparathyroidism, Chronic mucocutaneous candidiasis, Interferon autoantibodies, Candidiasis, Chronic Mucocutaneous, AIRE gene mutations, Addison’s disease, autoimmune polyglandular syndrome type 1 (APS-1), autoimmune-poly-endocrine-candidiasis-ectodermal-dystrophy (APECED), chronic hypoparathyroidism, chronic mucocutaneous candidiasis, interferon autoantibodies, Autoimmune regulator, Autoantibodie, Italy, Interferon autoantibodie, Addison's disease, Interferon Type I, Original Article, Female, Chronic hypoparathyroidism, Human, Adult, medicine.medical_specialty, Autoimmune Gastritis, Hypoparathyroidism, Internal medicine, Interferon autoantibodies, Humans, Mortality, Autoantibodies, Autoimmune-poly-endocrine-candidiasis-ectodermal-dystrophy (APECED), business.industry, Chronic mucocutaneous candidiasi, AIRE gene mutation, Autoantibody, medicine.disease, Autoimmune polyendocrine syndrome type 1, Mutation, business, Transcription Factors
وصف الملف: ELETTRONICO
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b5fd2c7ee684fd4d65c71851e2fdb32
http://hdl.handle.net/11568/1123121 -
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المؤلفون: Maureen A. Su, Giuseppina Zirilli, Tommaso Aversa, Filippo De Luca, Giuseppina Salzano, Mariella Valenzise
المصدر: Italian Journal of Pediatrics
مصطلحات موضوعية: 0301 basic medicine, Peripheral neuropathy, T-Lymphocytes, Gene mutation, Specific therapies, 03 medical and health sciences, 0302 clinical medicine, Molecular pathophysiology, medicine, Humans, Chronic mucocutaneous candidiasis, Child, Polyendocrinopathies, Autoimmune, B-Lymphocytes, Immunity, Cellular, business.industry, Myelin protein zero, Sensory loss, DNA, AIRE gene, medicine.disease, AIRE gene, Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy, Molecular pathophysiology, Peripheral neuropathy, Specific therapies, Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy, 030104 developmental biology, medicine.anatomical_structure, Hypoparathyroidism, Peripheral nervous system, Immunology, Chronic Disease, Mutation, Primary immunodeficiency, Commentary, business, 030215 immunology, Transcription Factors
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المؤلفون: Andrew G. Messenger, Thomas R. J. Lovewell, Mimoun Azzouz, Andrew J. G. McDonagh, Rachid Tazi-Ahnini
المصدر: Frontiers in Immunology
Frontiers in Immunology, Vol 9 (2018)مصطلحات موضوعية: 0301 basic medicine, lcsh:Immunologic diseases. Allergy, Immunology, TEC1 A3 cells, Small hairpin RNA, 03 medical and health sciences, 0302 clinical medicine, STAT1, Transcription (biology), Gene expression, Immunology and Allergy, Gene, Original Research, biology, Microarray analysis techniques, Autoimmune regulator, Cell biology, 030104 developmental biology, Real-time polymerase chain reaction, Aire gene, tissue-restricted antigens, 030220 oncology & carcinogenesis, biology.protein, auitoimmune polyglandular syndrome 1, lcsh:RC581-607
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::517c2f2747624a4c0a0eb737e9477887
https://eprints.whiterose.ac.uk/131948/48/fimmu-09-01380.pdf -
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المؤلفون: Giordano, C, Modica, R, Allotta, Ml, Guarnotta, V, Cervato, S, Masiero, S, Giordano, R, Garelli, Silvia, Betterle, Corrado
المساهمون: Giordano, C, Modica, R, Allotta, ML, Guarnotta, V, Cervato, S, Masiero, S, Giordano, R, Garelli, S, Betterle, C, Giordano, C., Modica, R., Allotta, M. L., Guarnotta, V., Cervato, S., Masiero, S., Giordano, R., Garelli, S., Betterle, C.
مصطلحات موضوعية: Adult, Male, Chronic mucocutaneous candidiasis, Mutation, Autoimmune polyendocrine syndrome type 1, Humans, Female, Addison's disease, Polyendocrinopathies, Autoimmune, Sicily, Chronic hypoparathyroidism, AIRE gene mutation, Addison’s disease, APECED, autoimmune polyendocrine syndrome type 1, chronic mucocutaneous candidiasis, chronic hypoparathyroidism, APECED, Transcription Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::9781ee3cf1ef05c55ad05a5d7ba715e2
http://hdl.handle.net/10447/60577 -
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المصدر: Journal of Clinical Ophthalmology and Research, Vol 4, Iss 1, Pp 37-39 (2016)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, genetic structures, 03 medical and health sciences, Atrophy, autoimmune polyendocrine syndrome, lcsh:Ophthalmology, Retinitis pigmentosa, Medicine, Chronic mucocutaneous candidiasis, Adrenocortical Insufficiency, business.industry, AIRE gene mutation, medicine.disease, Autoimmune regulator, Dermatology, eye diseases, 030104 developmental biology, Autoimmune polyendocrine syndrome type 1, Hypoparathyroidism, cataract, lcsh:RE1-994, Autoimmune polyendocrine syndrome, Immunology, sense organs, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc0a953085b819c205ebd84ed3480b56
https://doi.org/10.4103/2320-3897.174414 -
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المؤلفون: Raffaele Buganza, Davide Montin, Gerdi Tuli, Luisa de Sanctis, P Matarazzo, Andrea Carpino, Francesco Licciardi, Pier Luigi Calvo, Michele Pinon
المصدر: Genes, Vol 12, Iss 169, p 169 (2021)
Genesمصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, lcsh:QH426-470, genotype, Case Report, 030209 endocrinology & metabolism, Autoimmune polyendocrinopathy, Candidiasis, Ectodermal dystrophy (APECED), AIRE gene, Phenotype correlation, COVID-19, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Mutation, Phenotype, Polyendocrinopathies, Autoimmune, Siblings, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Genotype, Genetics, medicine, Epigenetics, Chronic mucocutaneous candidiasis, Preschool, Genetics (clinical), Autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED), business.industry, Dystrophy, genotype–phenotype correlation, Newborn, medicine.disease, lcsh:Genetics, 030104 developmental biology, Polyendocrinopathies, Hypoparathyroidism, Immunology, business, Autoimmune
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المصدر: Acta Medica Iranica, Vol 59, Iss 5 (2021)
مصطلحات موضوعية: Single-nucleotide polymorphism, Genetics, Medicine (General), business.industry, Autoimmune disorder, General Medicine, AIRE gene, medicine.disease, R5-920, Rheumatoid arthritis, Medicine, business, Gene
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المؤلفون: Murumägi, Astrid
المساهمون: Lääketieteellisen teknologian instituutti - Institute of Medical Technology, Lääketieteellinen tiedekunta - Faculty of Medicine, University of Tampere
مصطلحات موضوعية: AIRE gene, Molekyyli-immunologia - Molecular immunology, transcription, APECED disease
وصف الملف: fulltext
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______4853::ca74010844b1a11b55aa99e21e64762c
https://trepo.tuni.fi/handle/10024/67677 -
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المؤلفون: Anthony K. Shum, Jennifer M. Barker, Adam Law, Mark S. Anderson, Li Zhang, Ehud Zamir, Maureen A. Su, Mickie H. Cheng, George S. Eisenbarth, Raffaele Badolato, Matthew Stenerson, Sunanda R. Babu
مصطلحات موضوعية: Adult, EXPRESSION, medicine.medical_specialty, Adolescent, Fluoroimmunoassay, Immunology, ANTIGEN, Alpha interferon, medicine.disease_cause, Article, POLYENDOCRINOPATHY SYNDROME TYPE-1, Autoimmunity, Europium, Antibody Specificity, Internal medicine, medicine, Humans, Immunology and Allergy, Fluorometry, Avidity, Child, Polyendocrinopathies, Autoimmune, MYASTHENIA-GRAVIS PATIENTS, Interferon alfa, Autoantibodies, Type 1 diabetes, CANDIDIASIS-ECTODERMAL DYSTROPHY, Luminescent Agents, biology, medicine.diagnostic_test, business.industry, MUTATIONS, AIRE GENE, CELLS, ANTIBODIES, ALPHA, Autoantibody, Interferon-alpha, Middle Aged, medicine.disease, Endocrinology, Child, Preschool, Immunoassay, biology.protein, Antibody, business, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5610a83ac7a77648964860eb606ce0d4
http://hdl.handle.net/11379/164971 -
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المؤلفون: Cesar A. Speck-Hernandez, Amanda F. Assis, Rafaela F. Felicio, Larissa Cotrim-Sousa, Nicole Pezzi, Gabriel S. Lopes, Karina F. Bombonato-Prado, Silvana Giuliatti, Geraldo A. Passos
المصدر: Frontiers in Immunology, Vol 9 (2018)
Frontiers in Immunology
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: Transcriptional Activation, lcsh:Immunologic diseases. Allergy, 0301 basic medicine, immune tolerance, Immunology, Thymus Gland, Biology, Immune tolerance, Transcriptome, Mice, 03 medical and health sciences, 0302 clinical medicine, Animals, Immunology and Allergy, Cell adhesion, Original Research, Mice, Knockout, medullary thymic epithelial cells, Mice, Inbred BALB C, Thymocytes, Gene Expression Profiling, Alloimmunity, Cell Differentiation, Epithelial Cells, cell adhesion, DOENÇAS AUTOIMUNES, Cell biology, Thymocyte, 030104 developmental biology, Gene Expression Regulation, Aire gene, Female, Central tolerance, lcsh:RC581-607, transcriptome, CD80, Nuclear localization sequence, Transcription Factors, 030215 immunology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcccfd527f0c055a7a7fffaa2f2c2dbc
https://doi.org/10.3389/fimmu.2018.00964
Find this article in full text from Springer Verlag.