Samuel Refetoff
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Explore the profile of Samuel Refetoff including associated specialties, affiliations and a list of published articles.
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207
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5130
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Recent Articles
1.
Weiss R, Lemos J, Dumitrescu A, Islam M, Hirani K, Refetoff S
Thyroid
. 2024 Sep;
34(11):1435-1443.
PMID: 39283825
To evaluate the combined administration of propylthiouracil (PTU) and levothyroxine (LT4) in managing monocarboxylate transporter 8 (MCT8) deficiency and identify optimal therapeutic dosages. This multicenter case series involved 12 male...
2.
Persani L, Rodien P, Moran C, Visser W, Groeneweg S, Peeters R, et al.
Eur Thyroid J
. 2024 Jul;
13(4).
PMID: 38963712
Impaired sensitivity to thyroid hormones encompasses disorders with defective transport of hormones into cells, reduced hormone metabolism, and resistance to hormone action. Mediated by heritable single-gene defects, these rare conditions...
3.
Grasberger H, Dumitrescu A, Liao X, Swanson E, Weiss R, Srichomkwun P, et al.
Nat Genet
. 2024 May;
56(5):877-888.
PMID: 38714869
Thyrotropin (TSH) is the master regulator of thyroid gland growth and function. Resistance to TSH (RTSH) describes conditions with reduced sensitivity to TSH. Dominantly inherited RTSH has been linked to...
4.
Salas-Lucia F, Escamilla S, Bianco A, Dumitrescu A, Refetoff S
JCI Insight
. 2024 Feb;
9(7).
PMID: 38376950
Patients with mutations in the thyroid hormone (TH) cell transporter monocarboxylate transporter 8 (MCT8) gene develop severe neuropsychomotor retardation known as Allan-Herndon-Dudley syndrome (AHDS). It is assumed that this is...
5.
Salas-Lucia F, Liao X, Jiang H, Dumitrescu A, Refetoff S, Anselmo J
Thyroid
. 2023 Aug;
33(10):1255-1258.
PMID: 37597194
No abstract available.
6.
Peng Z, Ziros P, Martini T, Liao X, Stoop R, Refetoff S, et al.
Commun Biol
. 2023 Aug;
6(1):857.
PMID: 37591947
The body temperature of mice is higher at night than during the day. We show here that global deletion of acid-sensing ion channel 1a (ASIC1a) results in lower body temperature...
7.
Refetoff S, Persani L, Visser W
Lancet Diabetes Endocrinol
. 2023 Jul;
11(9):628-629.
PMID: 37475120
No abstract available.
8.
Zhang X, Young C, Liao X, Refetoff S, Torres M, Tomer Y, et al.
JCI Insight
. 2023 Jun;
8(12).
PMID: 37345654
Defects in endoplasmic reticulum (ER) proteostasis have been linked to diseases in multiple organ systems. Here we examined the impact of perturbation of ER proteostasis in mice bearing thyrocyte-specific knockout...
9.
Salas-Lucia F, Stan M, James H, Rajwani A, Liao X, Dumitrescu A, et al.
J Clin Endocrinol Metab
. 2023 May;
108(10):e944-e948.
PMID: 37149816
Context: Pregnant women with mutations in the thyroid hormone receptor beta (THRB) gene expose their fetuses to high thyroid hormone (TH) levels shown to be detrimental to a normal fetus...
10.
Duan J, Matute J, Unger L, Hanley T, Schnell A, Lin X, et al.
Immunity
. 2023 Mar;
56(5):1115-1131.e9.
PMID: 36917985
Intestinal IL-17-producing T helper (Th17) cells are dependent on adherent microbes in the gut for their development. However, how microbial adherence to intestinal epithelial cells (IECs) promotes Th17 cell differentiation...