Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 97 Records) |
Query Trace: Addison's Disease[original query] |
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CYP21A2 polymorphisms in patients with autoimmune Addison's disease, and linkage disequilibrium to HLA risk alleles. European journal of endocrinology / European Federation of Endocrine Societies 2014 Dec 171 (6): 743-50. Brønstad Ingeborg, Skinningsrud Beate, Bratland Eirik, Løvås Kristian, Undlien Dag, Sverre Husebye Eystein, Wolff Anette Susanne B |
HLA similarities indicate shared genetic risk in 21-hydroxylase autoantibody positive South African and United States Addison's disease. Tissue antigens 2014 Oct 84 (4): 361-9. Ross I L, Babu S, Armstrong T, Zhang L, Schatz D, Pugliese A, Eisenbarth G, Baker Ii |
Polymorphisms of the Toll-Like Receptor-3 Gene in Autoimmune Adrenal Failure and Type 1 Diabetes in Polish Patients. Archivum immunologiae et therapiae experimentalis 2015 Aug . Fichna Marta, ?urawek Magdalena, Fichna Piotr, Januszkiewicz-Lewandowska Danuta, Rucha?a Marek, Nowak Jer |
A novel FoxD3 Variant Is Associated With Vitiligo and Elevated Thyroid Auto-Antibodies. The Journal of clinical endocrinology and metabolism 2015 Aug jc20152126. Schunter Jo Ana, Löffler Dennis, Wiesner Tobias, Kovacs Peter, Badenhoop Klaus, Aust Gabriela, Tönjes Anke, Müller Peter, Baber Ronny, Simon Jan C, Führer Dagmar, Pfäffle Roland W, Thiery Joachim, Stumvoll Michael, Kiess Wieland, Kratzsch Jürgen, Körner Ant |
CTLA-4 as a genetic determinant in autoimmune Addison's disease. Genes and immunity 2015 Sep 16 (6): 430-6. Wolff A S B, Mitchell A L, Cordell H J, Short A, Skinningsrud B, Ollier W, Badenhoop K, Meyer G, Falorni A, Kampe O, Undlien D, Pearce S H S, Husebye E |
MAVS is not a Likely Susceptibility Locus for Addison's Disease and Type 1 Diabetes. Archivum immunologiae et therapiae experimentalis 2017 Jun 65 (3): 271-274. Zurawek Magdalena, Fichna Marta, Kazimierska Marta, Fichna Piotr, Dzikiewicz-Krawczyk Agnieszka, Przybylski Grzegorz, Ruchala Marek, Nowak Jer |
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 |
Polymorphic variants of the HSD11B1 gene may be involved in adverse metabolic effects of glucocorticoid replacement therapy in Addison's disease. European journal of internal medicine 2016 Apr . Fichna Marta, ?urawek Magdalena, Gryczy?ska Maria, Sowi?ska Anna, Nowak Jerzy, Rucha?a Mar |
Positive autoantibodies to ZnT8 indicate elevated risk for additional autoimmune conditions in patients with Addison's disease. Endocrine 2016 Mar . Fichna Marta, Rogowicz-Frontczak Anita, ?urawek Magdalena, Fichna Piotr, Gryczy?ska Maria, Zozuli?ska-Zió?kiewicz Dorota, Rucha?a Mar |
A Variant in the BACH2 Gene Is Associated With Susceptibility to Autoimmune Addison's Disease in Humans. The Journal of clinical endocrinology and metabolism 2016 Sep jc20162368. Pazderska Agnieszka, Oftedal Bergithe E, Napier Catherine M, Ainsworth Holly F, Husebye Eystein S, Cordell Heather J, Pearce Simon Hs, Mitchell Anna |
Polymorphisms of the GR and HSD11B1 genes influence body mass index and weight gain during hormone replacement treatment in patients with Addison's disease. Clinical endocrinology 2016 Jan . Molnár Ágnes, Kövesdi Annamária, Szücs Nikolette, Tóth Miklós, Igaz Péter, Rácz Károly, Patócs Atti |
Vitamin D effects on monocytes' CCL-2, IL6 and CD14 transcription in Addison's disease and HLA susceptibility. The Journal of steroid biochemistry and molecular biology 2018 03 177 53-58. Kraus A U, Penna-Martinez M, Meyer G, Badenhoop |
Meta-analysis of the association between NLRP1 polymorphisms and the susceptibility to vitiligo and associated autoimmune diseases. Oncotarget 2017 Oct 8 (50): 88179-88188. Li Juan, Yan Min, Zhang Yuan, Feng Chao, Wang Huicong, Wang Cuiyu, Sun |
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 |
High-dose vitamin D in Addison's disease regulates T-cells and monocytes: A pilot trial. Nutrition (Burbank, Los Angeles County, Calif.) 2018 3 49 66-73. Penna-Martinez Marissa, Filmann Natalie, Bogdanou Dimitra, Shoghi Firouzeh, Huenecke Sabine, Schubert Ralf, Herrmann Eva, Koehl Ulrike, Husebye Eystein S, Badenhoop Kla |
Association of PTPN22 1858C/T Polymorphism with Autoimmune Diseases: A Systematic Review and Bayesian Approach. Journal of clinical medicine 2019 Mar 8 (3): . Tizaoui Kalthoum, Kim Seon Hui, Jeong Gwang Hun, Kronbichler Andreas, Lee Kwang Seob, Lee Keum Hwa, Shin Jae |
DLA class II risk haplotypes for autoimmune diseases in the bearded collie offer insight to autoimmunity signatures across dog breeds. Canine genetics and epidemiology 2019 2 6 2. Gershony Liza C, Belanger Janelle M, Short Andrea D, Le Myly, Hytönen Marjo K, Lohi Hannes, Famula Thomas R, Kennedy Lorna J, Oberbauer Anita |
Amino Acid Polymorphisms in Hla Class II Differentiate Between Thyroid and Polyglandular Autoimmunity. The Journal of clinical endocrinology and metabolism 2019 Nov . Frommer Lara, Flesch Brigitte K, König Jochem, Kahaly George |
Association of Vitamin D Pathway Gene CYP27B1 and CYP2R1 Polymorphisms with Autoimmune Endocrine Disorders: A Meta-Analysis. The Journal of clinical endocrinology and metabolism 2020 Nov 105 (11): . Ma Xiaoxi, Xie Zhiguo, Qin Jiabi, Luo Shuoming, Zhou Zhigua |
Polymorphisms in the CTLA4 promoter sequence are associated with canine hypoadrenocorticism. Canine medicine and genetics 2020 8 7 2. Boag Alisdair M, Short Andrea, Kennedy Lorna J, Syme Hattie, Graham Peter A, Catchpole Bri |
Monocytic Cytokines in Autoimmune Polyglandular Syndrome Type 2 Are Modulated by Vitamin D and HLA-DQ. Frontiers in immunology 2020 12 11 583709. Kraus Anna U, Penna-Martinez Marissa, Shoghi Firouzeh, Meyer Gesine, Badenhoop Kla |
Polymorphism in BACH2 gene is a marker of polyglandular autoimmunity. Endocrine 2021 5 74 (1): 72-79. Fichna Marta, ?urawek Magdalena, S?omi?ski Bartosz, Sumi?ska Marta, Czarnywojtek Agata, Rozwadowska Natalia, Fichna Piotr, My?liwiec Ma?gorzata, Rucha?a Mar |
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 |
Vitamin D status and pathway genes in five European autoimmune Addison's disease cohorts. European journal of endocrinology 2021 Jan . Penna-Martinez Marissa, Meyer Gesine, Wolff Anette Boe, Skinningsrud Beate, Betterle Corrado, Falorni Alberto, Ollier William, Undlien Dag, Husebye Eystein, Pearce Simon, Mitchell Anna L, Badenhoop Kla |
Severe weight loss in a hypothyroid patient as an acute presentation of autoimmune polyglandular syndrome type II. Hormones (Athens, Greece) 2022 2 21 (2): 317-322. Silajdzija Elvira, Bliddal Sofie, Borgwardt Line, Rossing Maria, Jarløv Anne, Nielsen Claus Henrik, Feldt-Rasmussen Ul |
Insilico prediction and functional analysis of nonsynonymous SNPs in human CTLA4 gene. Scientific reports 2022 11 12 (1): 20441. Irfan Muhammad, Iqbal Talha, Hashmi Sakina, Ghani Uzma, Bhatti Att |
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 variants and risk for the endocrine autoimmunity in relatives of patients with Addison's disease. Endocrine connections 2023 4 . Fichna Marta, Malecki Piotr P, ?urawek Magdalena, Furman Katarzyna, Gebarski Boleslaw, Fichna Piotr, Ruchala Mar |
Replication of association at the LPP and UBASH3A loci in a UK autoimmune Addison's disease cohort. European journal of endocrinology 2023 1 188 (1): . Howarth Sophie, Sneddon Georgina, Allinson Kathleen R, Razvi Salman, Mitchell Anna L, Pearce Simon H |
Roles of blood metabolites in mediating the relationship between vitiligo and autoimmune diseases: Evidence from a Mendelian randomization study. International immunopharmacology 2024 5 133 112132. Siyu Yang, Xinglin Hu, Puyu Zou, Zhuotong Zeng, Yibo Hu, Rong Xi |
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