Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 36 Records) |
| Query Trace: Disease and AIRE[original query] |
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| AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis. Clinical immunology (Orlando, Fla.) 2007 Jan 122 (1): 13-7. Ferrera F, Rizzi M, Sprecacenere B, Balestra P, Sessarego M, Di Carlo A, Filaci G, Gabrielli A, Ravazzolo R, Indiveri |
| Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relatives. Clinical endocrinology 2009 Mar 70 (3): 421-8. Cervato Sara, Mariniello Barbara, Lazzarotto Francesca, Morlin Luca, Zanchetta Renato, Radetti Giorgio, De Luca Filippo, Valenzise Mariella, Giordano Roberta, Rizzo Daniela, Giordano Carla, Betterle Corra |
| The autoimmune regulator gene (AIRE) is strongly associated with vitiligo. The British journal of dermatology 2008 Sep 159 (3): 591-6. Tazi-Ahnini R, McDonagh A J G, Wengraf D A, Lovewell T R J, Vasilopoulos Y, Messenger A G, Cork M J, Gawkrodger D |
| AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I. Genes and immunity 2008 Mar 9 (2): 130-6. Bøe Wolff A S, Oftedal B, Johansson S, Bruland O, Løvås K, Meager A, Pedersen C, Husebye E S, Knappskog P |
| The proinflammatory cytokine TNF-alpha -308 AA genotype is associated with polyglandular autoimmunity. Immunological investigations 2009 38 (3-4): 255-67. Dittmar Manuela, Kaczmarczyk Adam, Bischofs Christian, Kahaly George |
| AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED. Clinical endocrinology 2010 Nov 73 (5): 630-6. Cervato Sara, Morlin Luca, Albergoni Maria Paola, Masiero Stefano, Greggio Nella, Meossi Cristiano, Chen Shu, del Pilar Larosa Maria, Furmaniak Jadwiga, Rees Smith Bernard, Alimohammadi Mohammad, Kämpe Olle, Valenzise Mariella, Betterle Corra |
| The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population.
Human molecular genetics 2011 Jul 20 (13): 2680-5. Terao Chikashi, Yamada Ryo, Ohmura Koichiro, Takahashi Meiko, Kawaguchi Takahisa, Kochi Yuta, , , Okada Yukinori, Nakamura Yusuke, Yamamoto Kazuhiko, Melchers Inga, Lathrop Mark, Mimori Tsuneyo, Matsuda Fumihi |
| Analysis of the autoimmune regulator gene in patients with autoimmune non-APECED polyendocrinopathies. Genomics 2013 Sep 102 (3): 163-8. Palma Alessia, Gianchecchi Elena, Palombi Melania, Luciano Rosa, Di Carlo Pierluigi, Crinò Antonino, Cappa Marco, Fierabracci Alessand |
| Absence of Heterozygous K83E and R257X Mutations of the AIRE-1 Gene in 46 Children with Type 1 Diabetes and 44 Children with Graves' Disease. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2014 5 14 (1): 17-21. Iwama Saika, Ikezaki Ayako, Matsuoka Hisafumi, Hoshi Mari, Sato Hirokazu, Miyamoto Shigeki, Sugihara Shigeta |
| Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidism. The Journal of clinical endocrinology and metabolism 2014 Mar 99 (3): E469-73. Lambert Anne-Sophie, Grybek Virginie, Francou Bruno, Esterle Laure, Bertrand Guylène, Bouligand Jérôme, Guiochon-Mantel Anne, Hieronimus Sylvie, Voitel Dorit, Soskin Sylvie, Magdelaine Corinne, Lienhardt Anne, Silve Caroline, Linglart Agn |
| Gene Polymorphisms for Both Auto-antigen and Immune-Modulating Proteins Are Associated with the Susceptibility of Autoimmune Myasthenia Gravis. Molecular neurobiology 2017 08 54 (6): 4771-4780. Li Hai-Feng, Hong Yu, Zhang Xu, Xie Yanchen, Skeie Geir Olve, Hao Hong-Jun, Gilhus Nils Erik, Liang Bing, Yue Yao-Xian, Zhang Xian-Jun, Gao Xiang, Wang Qi, Gao Zhe, Ding Xiao-Jun, Song M |
| AIRE genetic variants and predisposition to polygenic autoimmune disease: The case of Graves' disease and a systematic literature review. Human immunology 2016 Jun . Colobran Roger, Giménez-Barcons Mireia, Marín-Sánchez Ana, Porta-Pardo Eduard, Pujol-Borrell Ricar |
| From Genetic Predisposition to Molecular Mechanisms of Autoimmune Primary Adrenal Insufficiency. Frontiers of hormone research 2016 46 115-32. Falorni Alberto, Brozzetti Annalisa, Perniola Rober |
| Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1. Frontiers in endocrinology 2018 9 9 463. Bruserud Øyvind, Costea Daniela-Elena, Laakso Saila, Garty Ben-Zion, Mathisen Eirik, Mäkitie Antti, Mäkitie Outi, Husebye Eystein |
| Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden. Scientific reports 2018 May 8 (1): 8395. Eriksson Daniel, Bianchi Matteo, Landegren Nils, Dalin Frida, Skov Jakob, Hultin-Rosenberg Lina, Mathioudaki Argyri, Nordin Jessika, Hallgren Åsa, Andersson Göran, Tandre Karolina, Rantapää Dahlqvist Solbritt, Söderkvist Peter, Rönnblom Lars, Hulting Anna-Lena, Wahlberg Jeanette, Dahlqvist Per, Ekwall Olov, Meadows Jennifer R S, Lindblad-Toh Kerstin, Bensing Sophie, Rosengren Pielberg Gerli, Kämpe Ol |
| A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes. Diabetologia 2018 2 61 (4): 862-869. Johnson Matthew B, Patel Kashyap A, De Franco Elisa, Houghton Jayne A L, McDonald Timothy J, Ellard Sian, Flanagan Sarah E, Hattersley Andrew |
| The Rheumatoid Arthritis Risk Gene AIRE Is Induced by Cytokines in Fibroblast-Like Synoviocytes and Augments the Pro-inflammatory Response. Frontiers in immunology 2019 7 10 1384. Bergström Beatrice, Lundqvist Christina, Vasileiadis Georgios K, Carlsten Hans, Ekwall Olov, Ekwall Anna-Karin |
| Association of AIRE (rs2075876), but not CTLA4 (rs231775) polymorphisms with systemic lupus erythematosus. Gene 2020 10 768 145270. Alghamdi Saleh A, Kattan Shahad W, Toraih Eman A, Alrowaili Majed G, Fawzy Manal S, Elshazli Rami |
| Genome-wide association study identifies five risk loci for pernicious anemia. Nature communications 2021 6 12 (1): 3761. Laisk Triin, Lepamets Maarja, Koel Mariann, Abner Erik, , Mägi Reed |
| Autoimmune manifestations among 461 patients with monogenic inborn errors of immunity. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2021 3 32 (6): 1335-1348. Azizi Gholamreza, Tavakol Marzieh, Yazdani Reza, Delavari Samaneh, Moeini Shad Tannaz, Rasouli Seyed Erfan, Jamee Mahnaz, Pashangzadeh Salar, Kalantari Arash, Shariat Mansoureh, Shafiei Alireza, Mohammadi Javad, Hassanpour Gholamreza, Chavoshzadeh Zahra, Mahdaviani Seyed Alireza, Momen Tooba, Behniafard Nasrin, Nabavi Mohammad, Bemanian Mohammad Hassan, Arshi Saba, Molatefi Rasol, Sherkat Roya, Shirkani Afshin, Alyasin Soheila, Jabbari-Azad Farahzad, Ghaffari Javad, Mesdaghi Mehrnaz, Ahanchian Hamid, Khoshkhui Maryam, Eslamian Mohammad Hossein, Cheraghi Taher, Dabbaghzadeh Abbas, Nasiri Kalmarzi Rasoul, Esmaeilzadeh Hossein, Tafaroji Javad, Khalili Abbas, Sadeghi-Shabestari Mahnaz, Darougar Sepideh, Moghtaderi Mojgan, Ahmadiafshar Akefeh, Shakerian Behzad, Heidarzadeh Marzieh, Ghalebaghi Babak, Fathi Seyed Mohammad, Darabi Behzad, Fallahpour Morteza, Mohsenzadeh Azam, Ebrahimi Sarehsadat, Sharafian Samin, Vosughimotlagh Ahmad, Tafakoridelbari Mitra, Rahimi Haji-Abadi Maziyar, Ashournia Parisa, Razaghian Anahita, Rezaei Arezou, Salami Fereshte, Shirmast Paniz, Bazargan Nasrin, Mamishi Setareh, Khazaei Hossein Ali, Negahdari Babak, Shokri Sima, Nabavizadeh Seyed Hesamedin, Bazregari Saeed, Ghasemi Ramin, Bayat Shiva, Eshaghi Hamid, Rezaei Nima, Abolhassani Hassan, Aghamohammadi Asgh |
| GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility.
Nature communications 2021 02 12 (1): 959. Eriksson Daniel, Røyrvik Ellen Christine, Aranda-Guillén Maribel, Berger Amund Holte, Landegren Nils, Artaza Haydee, Hallgren Åsa, Grytaas Marianne Aardal, Ström Sara, Bratland Eirik, Botusan Ileana Ruxandra, Oftedal Bergithe Eikeland, Breivik Lars, Vaudel Marc, Helgeland Øyvind, Falorni Alberto, Jørgensen Anders Palmstrøm, Hulting Anna-Lena, Svartberg Johan, Ekwall Olov, Fougner Kristian Johan, Wahlberg Jeanette, Nedrebø Bjørn Gunnar, Dahlqvist Per, , , Knappskog Per Morten, Wolff Anette Susanne Bøe, Bensing Sophie, Johansson Stefan, Kämpe Olle, Husebye Eystein Sver |
| Autoimmune Regulator Gene Polymorphisms in Egyptian Systemic Lupus Erythematosus Patients: Preliminary Results. International journal of rheumatology 2021 2021 5546639. Attia Doaa Hs, Dorgham Dalia Ah, El Maghraby Ahmed A, Alkaffas Marwa, Abdel Kawy Mahitab A, Sherif Mai M, Abdel Halim Radwa |
| Two types of human TCR differentially regulate reactivity to self and non-self antigens. iScience 2022 9 25 (9): 104968. Trofimov Assya, Brouillard Philippe, Larouche Jean-David, Séguin Jonathan, Laverdure Jean-Philippe, Brasey Ann, Ehx Gregory, Roy Denis-Claude, Busque Lambert, Lachance Silvy, Lemieux Sébastien, Perreault Clau |
| Analysis of a series of Italian APECED patients with autoimmune hepatitis and gastro-enteropathies. Frontiers in immunology 2023 7 14 1172369. Giorgia Paldino, Maria Felicia Faienza, Marco Cappa, Andrea Pietrobattista, Donatella Capalbo, Mariella Valenzise, Vito Lampasona, Annamaria Cudini, Elena Carbone, Olivia Pagliarosi, Giuseppe Maggiore, Mariacarolina Salerno, Corrado Betterle, Alessandra Fierabrac |
| Genetic Polymorphisms in Exon 5 and Intron 5 and 7 of AIRE Are Associated with Rheumatoid Arthritis Risk in a Hungarian Population. Biology 2024 6 13 (6): . Bálint Bérczi, Nóra Nusser, Iván Péter, Balázs Németh, Ágota Kulisch, Zsuzsanna Kiss, Zoltán Gyöng |
| Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing. BMC medical genomics 2024 4 17 (1): 98. Anett Illés, Henriett Pikó, Kristóf Árvai, Veronika Donka, Olívia Szepesi, János Kósa, Péter Lakatos, Artúr Be |
| Lessons from prospective longitudinal follow-up of a French APECED cohort. The Journal of clinical endocrinology and metabolism 2024 4 . Linda Humbert, Emmanuelle Proust-Lemoine, Sylvain Dubucquoi, Elisabeth Helen Kemp, Pascale Saugier-Veber, Nicole Fabien, Isabelle Raymond-Top, Catherine Cardot-Bauters, Jean-Claude Carel, Maryse Cartigny, Olivier Chabre, Philippe Chanson, Brigitte Delemer, Christine Do Cao, Laurence Guignat, Jean Emmanuel Kahn, Veronique Kerlan, Herve Lefebvre, Agnès Linglart, Roberto Mallone, Rachel Reynaud, Boualem Sendid, Pierre-François Souchon, Philippe Touraine, Jean-Louis Wémeau, Marie-Christine Vantygh |
| AIRE mutation in an elderly Caroli's patient with cholangitis and sepsis: a case report. Journal of medical case reports 2024 12 18 (1): 628. Yan Yan, Juanjuan Fu, Lilin Jiang, Zhonghua Lu, Renfang Ch |
| The Putative Role of TIM-3 Variants in Polyendocrine Autoimmunity: Insights from a WES Investigation. International journal of molecular sciences 2024 10 25 (20): . Andrea Ariolli, Emanuele Agolini, Tommaso Mazza, Francesco Petrizzelli, Stefania Petrini, Valentina D'Oria, Annamaria Cudini, Caterina Nardella, Vanessa Pesce, Donatella Comparcola, Marco Cappa, Alessandra Fierabrac |
| Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome. PloS one 2024 10 19 (10): e0312335. Anastasiia Buianova, Marina Yukina, Valery Cheranev, Oleg Suchalko, Anna Shmitko, Alina Samitova, Nurana Nuralieva, Elena Kulagina, Elena Savvateeva, Ekaterina Troshina, Denis Rebrikov, Dmitry Gryadunov, Dmitriy Korost |
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