Resultats de la cerca - Samuel Refetoff

Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome per Federico Salas-Lucia, Sergio Escamilla, Antonio C. Bianco, Alexandra Dumitrescu, Samuel Refetoff

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Circulating Antibodies to T4 Causing Discordant Tests of Thyroid Function: A Case Report per Gülşah Elbüken, Züleyha Karaca, Fatih Tanrıverdi, Kürşad Ünlühizarcı, Samuel Refetoff, Fahrettin Keleştimur

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Resistance to Thyroid Hormone: Probable De Novo Mutation (P453S) in the Receptor Beta Gene - Original Article per Banu Kale Köroğlu, Sunee Mamanasiry, Adem Küçük, Mehmet Numan Tamer, Ramazan Yılmaz, Samuel Refetoff

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Resistance to Thyroid Hormone: Probable De Novo Mutation (P453S) in the Receptor Beta Gene - Original Article per Banu Kale Köroğlu, Sunee Mamanasiry, Adem Küçük, Mehmet Numan Tamer, Ramazan Yılmaz, Samuel Refetoff

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Increased oxidative metabolism and neurotransmitter cycling in the brain of mice lacking the thyroid hormone transporter SLC16A2 (MCT8). per Tiago B Rodrigues, Ainhoa Ceballos, Carmen Grijota-Martínez, Barbara Nuñez, Samuel Refetoff, Sebastian Cerdán, Beatriz Morte, Juan Bernal

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TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews per David Shaki, Marina Eskin-Schwartz, Noam Hadar, Emily Bosin, Lior Carmon, Samuel Refetoff, Eli Hershkovitz, Ohad S Birk, Alon Haim

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Thyroidal Transcriptomic Profiles of Pathoadaptive Responses to Congenital Hypothyroidism in XB130 Knockout Mice per Junichi Sugihara, Aaron Wong, Hiroki Shimizu, Jinbo Zhao, Hae-Ra Cho, Yingchun Wang, Samuel Refetoff, Peter Arvan, Mingyao Liu

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ASIC1a affects hypothalamic signaling and regulates the daily rhythm of body temperature in mice per Zhong Peng, Panos G. Ziros, Tomaz Martini, Xiao-Hui Liao, Ron Stoop, Samuel Refetoff, Urs Albrecht, Gerasimos P. Sykiotis, Stephan Kellenberger

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Reply to the letter by Dr Karlsson ‘Rationale behind the European Thyroid Association 2024 Guideline to treat the Allan–Herndon–Dudley syndrome with tiratricol?’ per Luca Persani, Patrice Rodien, Carla Moran, W Edward Visser, Stefan Groeneweg, Robin Peeters, Samuel Refetoff, Mark Gurnell, Paolo Beck-Peccoz, Krishna Chatterjee

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2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action per Luca Persani, Patrice Rodien, Carla Moran, W Edward Visser, Stefan Groeneweg, Robin Peeters, Samuel Refetoff, Mark Gurnell, Paolo Beck-Peccoz, Krishna Chatterjee

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Measuring deiodinase activity: a need for standardization? per Joëlle Wiersema, Petra Mohácsik, Balázs Gereben, Arturo Hernandez, Selmar Leeuwenburgh, Marcel Meima, W Edward Visser, Samuel Refetoff, Antonio Bianco, Federico Salas-Lucia, Anita Boelen

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Perturbation of endoplasmic reticulum proteostasis triggers tissue injury in the thyroid gland per Xiaohan Zhang, Crystal Young, Xiao-Hui Liao, Samuel Refetoff, Mauricio Torres, Yaron Tomer, Mihaela Stefan-Lifshitz, Hao Zhang, Dennis Larkin, Deyu Fang, Ling Qi, Peter Arvan

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P229: Non-coding variants create an enhancer cluster that causes resistance to thyrotropin via long-range interactions with a microRNA promoter per Elliott Swanson, Helmut Grasberger, Alexandra Dumitrescu, Xiao-Hui Liao, Roy Weiss, Panudda Srichomkwun, Theodora Pappa, Junfeng Cheng, Takashi Yoshimura, Phillip Hoffmann, Monica Malheiros França, Rebecca Tagett, Kazumichi Onigata, Sabine Costagliola, Jane Ranchalis, Shane Neph, Mitchell Vollger, Jessica Chong, Michael Bamshad, Guillaume Smits, Gilbert Vassart, Samuel Refetoff, Andrew Stergachis

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