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STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179.
Grasberger H, Dumitrescu AM, Liao XH, Swanson EG, Weiss RE, Srichomkwun P, Pappa T, Chen J, Yoshimura T, Hoffmann P, França MM, Tagett R, Onigata K, Costagliola S, Ranchalis J, Vollger MR, Stergachis AB, Chong JX, Bamshad MJ, Smits G, Vassart G, Refetoff S. Grasberger H, et al. Among authors: refetoff s. Nat Genet. 2024 May;56(5):877-888. doi: 10.1038/s41588-024-01717-7. Epub 2024 May 7. Nat Genet. 2024. PMID: 38714869 Free PMC article.
The Relationship Between Fetal THRB Genotype and Maternal Thyroid Function.
Salas-Lucia F, Liao XH, Jiang H, Dumitrescu AM, Refetoff S, Anselmo J. Salas-Lucia F, et al. Among authors: refetoff s. Thyroid. 2023 Oct;33(10):1255-1258. doi: 10.1089/thy.2023.0236. Epub 2023 Sep 13. Thyroid. 2023. PMID: 37597194 Free PMC article. No abstract available.
Effect of the Fetal THRB Genotype on the Placenta.
Salas-Lucia F, Stan MN, James H, Rajwani A, Liao XH, Dumitrescu AM, Refetoff S. Salas-Lucia F, et al. Among authors: refetoff s. J Clin Endocrinol Metab. 2023 Sep 18;108(10):e944-e948. doi: 10.1210/clinem/dgad243. J Clin Endocrinol Metab. 2023. PMID: 37149816 Free PMC article.
Endoplasmic reticulum stress in the intestinal epithelium initiates purine metabolite synthesis and promotes Th17 cell differentiation in the gut.
Duan J, Matute JD, Unger LW, Hanley T, Schnell A, Lin X, Krupka N, Griebel P, Lambden C, Sit B, Grootjans J, Pyzik M, Sommer F, Kaiser S, Falk-Paulsen M, Grasberger H, Kao JY, Fuhrer T, Li H, Paik D, Lee Y, Refetoff S, Glickman JN, Paton AW, Bry L, Paton JC, Sauer U, Macpherson AJ, Rosenstiel P, Kuchroo VK, Waldor MK, Huh JR, Kaser A, Blumberg RS. Duan J, et al. Among authors: refetoff s. Immunity. 2023 May 9;56(5):1115-1131.e9. doi: 10.1016/j.immuni.2023.02.018. Epub 2023 Mar 13. Immunity. 2023. PMID: 36917985 Free PMC article.
491 results