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Autor: Pechacek, Joseph¹ (AUTHOR), Schmitt, Monica M¹ (AUTHOR), Ferrè, Elise M N¹ (AUTHOR), Webb, Taura¹ (AUTHOR), Goldberg, Joel² (AUTHOR), Pathan, Sabina² (AUTHOR), Banerjee, Camellia² (AUTHOR), Barber, Princess¹ (AUTHOR), DiMaggio, Thomas¹ (AUTHOR), Quinn, Anne² (AUTHOR), Matkovits, Theresa³ (AUTHOR), Castelo-Soccio, Leslie⁴ (AUTHOR), Nussenblatt, Veronique⁵ (AUTHOR), Lionakis, Michail S¹ (AUTHOR) lionakism@mail.nih.gov

Publikováno v: Open Forum Infectious Diseases. Aug2024, Vol. 11 Issue 8, p1-4. 4p.

Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes

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Publikováno v: In iScience 16 June 2023 26(6)

High-throughput identification of autoantibodies that target the human exoproteome

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Therapy with PTH 1–34 or calcitriol and calcium in diverse etiologies of hypoparathyroidism over 27 years at a single tertiary care center

Autor: Winer, Karen K., Ye, Shangyuan, Ferré, Elise M.N., Schmitt, Monica M., Zhang, Bo, Cutler, Gordon B., Jr, Lionakis, Michail S.

Publikováno v: In Bone August 2021 149

Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes

Autor: Oftedal, Bergithe E, Assing, Kristian, Baris, Safa, Safgren, Stephanie L, Johansen, Isik S, Jakobsen, Marianne Antonius, Babovic-Vuksanovic, Dusica, Agre, Katherine, Klee, Eric W, Majcic, Emina, Ferre, Elise MN, Schmitt, Monica M, DiMaggio, Tom, Rosen, Lindsey B, Rahman, Muhammad Obaidur, Chrysis, Dionisio, Giannakopoulos, Aristeidi, Garcia, Maria Tallon, Gonzalez-Granado, Luis Ignacio, Stanley, Katherine, Galant-Swafford, Jessica, Suwannarat, Pim, Meyts, Isabelle, Lionakis, Michail S, Husebye, Eystein S

Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disease characterized by severe and childhood onset organ-specific autoimmunity caused by mutations in the autoimmune regulator (AIRE) gene. More recently, dominant-negative m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d33e4af7ca053ea5a107c98d8052035
https://hdl.handle.net/11424/289719