Publications by authors named "Samuel Refetoff"

Claim this Profile
P
Prevalence of pendrin defects in sudanese families with congenital hypothyroidism.
Mohammad S Islam, Alexandra M Dumitrescu, Amna Ahmed, Samuel Refetoff, Roy E Weiss

Endocrine· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Stimulated thyroid hormone synthesis machinery drives thyrocyte cell death independent of ER stress.
Crystal Young, Xiaohan Zhang, Xiaofan Wang, Aaron P Kellogg, Kevin Pena, Samuel Refetoff

J Clin Invest· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Reply to the letter by Dr Karlsson 'Rationale behind the European Thyroid Association 2024 Guideline to treat the Allan-Herndon-Dudley syndrome with tiratricol?'.
Luca Persani, Patrice Rodien, Carla Moran, W Edward Visser, Stefan Groeneweg, Samuel Refetoff

Eur Thyroid J· October 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Thyroidal expression of ER molecular chaperone GRP170 is required for efficient TSH-mediated thyroid hormone synthesis.
Xiaohan Zhang, Crystal Young, Xiao-Hui Liao, Samuel Refetoff, Stephanie M Mutchler

JCI Insight· September 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Functional Domain Mapping of TPO: Insights from Six Variants in Sudanese Kindreds with Congenital Hypothyroidism.
Mohammad S Islam, Ruy Andrade Louzada Neto, Jessica Bouviere, Amna E Ahmed, Ernesto Bernal-Mizrachi, Samuel Refetoff

J Clin Endocrinol Metab· September 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Genetically-Engineered Thyroid Gland Built for Selective Triiodothyronine Secretion.
Cintia E Citterio, Berenice Morales-Rodriguez, Xiao-Hui Liao, Catherine Vu, Rachel Nguyen, Samuel Refetoff

Int J Mol Sci· July 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Combined Levothyroxine and Propylthiouracil Treatment in Children with Monocarboxylate Transporter 8 Deficiency: A Multicenter Case Series of 12 Patients.
Roy E Weiss, Joana R N Lemos, Alexandra M Dumitrescu, Mohammad S Islam, Khemraj Hirani, Samuel Refetoff

Thyroid· November 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
2
2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action.
Luca Persani, Patrice Rodien, Carla Moran, W Edward Visser, Stefan Groeneweg, Samuel Refetoff

Eur Thyroid J· August 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179.
Helmut Grasberger, Alexandra M Dumitrescu, Xiao-Hui Liao, Elliott G Swanson, Roy E Weiss, Samuel Refetoff

Nat Genet· May 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome.
Federico Salas-Lucia, Sergio Escamilla, Antonio C Bianco, Alexandra Dumitrescu, Samuel Refetoff

JCI Insight· February 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The Relationship Between Fetal Genotype and Maternal Thyroid Function.
Federico Salas-Lucia, Xiao-Hui Liao, Hanzi Jiang, Alexandra M Dumitrescu, Samuel Refetoff

Thyroid· October 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Effect of the Fetal THRB Genotype on the Placenta.
Federico Salas-Lucia, Marius N Stan, Haleigh James, Aadil Rajwani, Xiao-Hui Liao, Samuel Refetoff

J Clin Endocrinol Metab· September 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Increased cardiovascular morbidity and mortality in patients with resistance to thyroid hormone.
Samuel Refetoff, Luca Persani, W Edward Visser

Lancet Diabetes Endocrinol· September 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
ASIC1a affects hypothalamic signaling and regulates the daily rhythm of body temperature in mice.
Zhong Peng, Panos G Ziros, Tomaz Martini, Xiao-Hui Liao, Ron Stoop, Samuel Refetoff

Commun Biol· August 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Iodotyrosines Are Biomarkers for Preclinical Stages of Iodine-Deficient Hypothyroidism in -Knockout Mice.
Cristian González-Guerrero, Marco Borsò, Pouya Alikhani, Yago Alcaina, Federico Salas-Lucia, Samuel Refetoff

Thyroid· June 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Perturbation of endoplasmic reticulum proteostasis triggers tissue injury in the thyroid gland.
Xiaohan Zhang, Crystal Young, Xiao-Hui Liao, Samuel Refetoff, Mauricio Torres

JCI Insight· June 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Endoplasmic reticulum stress in the intestinal epithelium initiates purine metabolite synthesis and promotes Th17 cell differentiation in the gut.
Jinzhi Duan, Juan D Matute, Lukas W Unger, Thomas Hanley, Alexandra Schnell, Samuel Refetoff

Immunity· May 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C).
Reham Shareef, Aryel Furman, Yui Watanabe, Ryan Bruellman, Mohammed A Abdullah, Samuel Refetoff

Thyroid· February 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Transplantable human thyroid organoids generated from embryonic stem cells to rescue hypothyroidism.
Mírian Romitti, Adrien Tourneur, Barbara de Faria da Fonseca, Gilles Doumont, Pierre Gillotay, Samuel Refetoff

Nat Commun· November 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Foxe1 Deletion in the Adult Mouse Is Associated With Increased Thyroidal Mast Cells and Hypothyroidism.
Grace Lim, Alexander Widiapradja, Scott P Levick, Kelly J McKelvey, Xiao-Hui Liao, Samuel Refetoff

Endocrinology· October 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Novel Pathogenic Variant in Leads to Familial Congenital Hypothyroidism.
Monica Malheiros França, Lucy Reeve, Alexandra M Dumitrescu, Martin de Bock, Samuel Refetoff

Thyroid· August 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency.
Xiao-Hui Liao, Pablo Avalos, Oksana Shelest, Raz Ofan, Michael Shilo, Samuel Refetoff

Thyroid· July 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Maintaining the thyroid gland in mutant thyroglobulin-induced hypothyroidism requires thyroid cell proliferation that must continue in adulthood.
Xiaohan Zhang, Bhoomanyu Malik, Crystal Young, Hao Zhang, Dennis Larkin, Samuel Refetoff

J Biol Chem· July 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis