arrow
Back
S

Samuel Refetoff

university of michigan system

94H-index
704Paper Count
3.1WCitation Count
Published Papers 204
Publication Date
Stimulated thyroid hormone synthesis machinery drives thyrocyte cell death independent of ER stress
err2025-12-15
err1
errOAAI
errYoung, Crystal; Zhang, Xiaohan; Wang, Xiaofan; Kellogg, Aaron P.; Pena, Kevin; Cumming, August Z.; Liao, Xiao-Hui; Larkin, Dennis; Zhang, Hao; Mastroianni, Emma; Grasberger, Helmut; Refetoff, Samuel; Arvan, Peter
errShare
errSave
Reply to the letter by Dr Karlsson 'Rationale behind the European Thyroid Association 2024 Guideline to treat the Allan-Herndon-Dudley syndrome with tiratricol?'
err2025-10-01
err0
PREAI
errPersani, Luca; Rodien, Patrice; Moran, Carla; Visser, W. Edward; Groeneweg, Stefan; Peeters, Robin; Refetoff, Samuel; Gurnell, Mark; Beck-Peccoz, Paolo; Chatterjee, Krishna
errShare
errSave
Functional Domain Mapping of TPO: Insights From 6 Variants in Sudanese Kindreds With Congenital Hypothyroidism
err2025-10-01
err0
PREAI
errIslam, Mohammad S.; Louzada, Ruy A.; Bouviere, Jessica; Ahmed, Amna E.; Bernal-Mizrachi, Ernesto; Dumitrescu, Alexandra M.; Refetoff, Samuel; Weiss, Roy E.
errShare
errSave
Prevalence of pendrin defects in sudanese families with congenital hypothyroidism
err2025-09-16
err0
errOAAI
errMohammad S. Islam; Alexandra M. Dumitrescu; Amna Ahmed; Samuel Refetoff; Roy E. Weiss
errShare
errSave
Thyroidal expression of ER molecular chaperone GRP170 is required for efficient TSH-mediated thyroid hormone synthesis
err2025-09-09
err0
PREAI
errZhang, Xiaohan; Young, Crystal; Liao, Xiao-Hui; Refetoff, Samuel; Mutchler, Stephanie M.; Brodsky, Jeffrey L.; Buck, Teresa M.; Arvan, Peter
errShare
errSave
Combined Levothyroxine and Propylthiouracil Treatment in Children with Monocarboxylate Transporter 8 Deficiency: A Multicenter Case Series of 12 Patients
errTHYROID
IF6.7
err2024-11-01
err0
PREAI
errWeiss, Roy E.; Lemos, Joana R. N.; Dumitrescu, Alexandra M.; Islam, Mohammad S.; Hirani, Khemraj; Refetoff, Samuel
errShare
errSave
2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action
err2024-07-04
err1
errOAAI
errPersani, Luca; Rodien, Patrice; Moran, Carla; Visser, W. Edward; Groeneweg, Stefan; Peeters, Robin; Refetoff, Samuel; Gurnell, Mark; Beck-Peccoz, Paolo; Chatterjee, Krishna
errShare
errSave
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179
err2024-05-07
err3
PREAI
errGrasberger, Helmut; Dumitrescu, Alexandra M.; Liao, Xiao-Hui; Swanson, Elliott G.; Weiss, Roy E.; Srichomkwun, Panudda; Pappa, Theodora; Chen, Junfeng; Yoshimura, Takashi; Hoffmann, Phillip; Franca, Monica Malheiros; Tagett, Rebecca; Onigata, Kazumichi; Costagliola, Sabine; Ranchalis, Jane; Vollger, Mitchell R.; Stergachis, Andrew B.; Chong, Jessica X.; Bamshad, Michael J.; Smits, Guillaume; Vassart, Gilbert; Refetoff, Samuel
errShare
errSave
Impaired T3 uptake and action in MCT8-deficient cerebralorganoids underlie Allan-Herndon-Dudley syndrome
err2024-02-20
err7
errOAAI
errSalas-Lucia, Federico; Escamilla, Sergio; Bianco, Antonio C.; Dumitrescu, Alexandra; Refetoff, Samuel
errShare
errSave
The Relationship Between Fetal THRB Genotype and Maternal Thyroid Function
errTHYROID
IF6.7
err2023-10-01
err0
PREAI
errSalas-Lucia, Federico; Liao, Xiao-Hui; Jiang, Hanzi; Dumitrescu, Alexandra M.; Refetoff, Samuel; Anselmo, Joao
errShare
errSave
ASIC1a affects hypothalamic signaling and regulates the daily rhythm of body temperature in mice
err2023-08-17
err0
errOAAI
errPeng, Zhong; Ziros, Panos G.; Martini, Tomaz; Liao, Xiao-Hui; Stoop, Ron; Refetoff, Samuel; Albrecht, Urs; Sykiotis, Gerasimos P.; Kellenberger, Stephan
errShare
errSave
Perturbation of endoplasmic reticulum proteostasis triggers tissue injury in the thyroid gland
err2023-06-22
err0
errOAAI
errZhang, Xiaohan; Young, Crystal; Liao, Xiao-Hui; Refetoff, Samuel; Torres, Mauricio; Tomer, Yaron; Stefan-Lifshitz, Mihaela; Zhang, Hao; Larkin, Dennis; Fang, Deyu; Qi, Ling; Arvan, Peter
errShare
errSave
Iodotyrosines Are Biomarkers for Preclinical Stages of Iodine-Deficient Hypothyroidism in Dehal1-Knockout Mice
errTHYROID
IF6.7
err2023-06-01
err6
errOAAI
errGonzalez-Guerrero, Cristian; Borso, Marco; Alikhani, Pouya; Alcaina, Yago; Salas-Lucia, Federico; Liao, Xiao-Hui; Garcia-Gimenez, Jorge; Bertolini, Andrea; Martin, Diana; Moratilla, Adrian; Mora, Roberto; Buno-Soto, Antonio; Mani, Ali R. R.; Bernal, Juan; Saba, Alessandro; de Miguel, Maria P.; Refetoff, Samuel; Zucchi, Riccardo; Moreno, Jose Carlos
errShare
errSave
Effect of the Fetal THRB Genotype on the Placenta
err2023-05-07
err9
PREAI
errSalas-Lucia, Federico; Stan, Marius N.; James, Haleigh; Rajwani, Aadil; Liao, Xiao-Hui; Dumitrescu, Alexandra M.; Refetoff, Samuel
errShare
errSave
Endoplasmic reticulum stress in the intestinal epithelium initiates purine metabolite synthesis and promotes Th17 cell differentiation in the gut
errIMMUNITY
IF26.3
err2023-05-01
err29
errOAAI
errDuan, Jinzhi; Matute, Juan D.; Unger, Lukas W.; Hanley, Thomas; Schnell, Alexandra; Lin, Xi; Krupka, Niklas; Griebel, Paul; Lambden, Conner; Sit, Brandon; Grootjans, Joep; Pyzik, Michal; Sommer, Felix; Kaiser, Sina; Falk-Paulsen, Maren; Grasberger, Helmut; Kao, John Y.; Fuhrer, Tobias; Li, Hai; Paik, Donggi; Lee, Yunjin; Refetoff, Samuel; Glickman, Jonathan N.; Paton, Adrienne W.; Bry, Lynn; Paton, James C.; Sauer, Uwe; Macpherson, Andrew J.; Rosenstiel, Philip; Kuchroo, Vijay K.; Waldor, Matthew K.; Huh, Jun R.; Kaser, Arthur; Blumberg, Richard S.
errShare
errSave
Genetic analysis reveals different functions for the products of the thyroid hormone receptor α locus
err2023-03-28
err221
errOAAI
errGauthier, K; Plateroti, M; Harvey, CB; Williams, GR; Weiss, RE; Refetoff, S; Willott, JF; Sundin, V; Roux, JP; Malaval, L; Hara, M; Samarut, J; Chassande, O
errShare
errSave
Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C)
errTHYROID
IF6.7
err2023-02-01
err3
errOAAI
errShareef, Reham; Furman, Aryel; Watanabe, Yui; Bruellman, Ryan; Abdullah, Mohammed A. A.; Dumitresu, Alexandra M. M.; Refetoff, Samuel; Bertolini, Andrea; Borso, Marco; Saba, Alessandro; Zucchi, Riccardo; Weiss, Roy E. E.
errShare
errSave
Transplantable human thyroid organoids generated from embryonic stem cells to rescue hypothyroidism
err2022-11-17
err30
errOAAI
errRomitti, Mirian; Tourneur, Adrien; da Fonseca, Barbara de Faria; Doumont, Gilles; Gillotay, Pierre; Liao, Xiao-Hui; Eski, Sema Elif; Van Simaeys, Gaetan; Chomette, Laura; Lasolle, Helene; Monestier, Olivier; Kasprzyk, Dominika Figini; Detours, Vincent; Singh, Sumeet Pal; Goldman, Serge; Refetoff, Samuel; Costagliola, Sabine
errShare
errSave
Foxe1 Deletion in the Adult Mouse Is Associated With Increased Thyroidal Mast Cells and Hypothyroidism
err2022-09-26
err5
errOAAI
errLim, Grace; Widiapradja, Alexander; Levick, Scott P.; McKelvey, Kelly J.; Liao, Xiao-Hui; Refetoff, Samuel; Bullock, Martyn; Clifton-Bligh, Roderick J.
errShare
errSave
A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism
errTHYROID
IF6.7
err2022-08-01
err0
errOAAI
errFranca, Monica Malheiros; Reeve, Lucy; Dumitrescu, Alexandra M.; de Bock, Martin; Refetoff, Samuel
errShare
errSave