Familial syndrome combining deaf-mutism, stippled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone

S Refetoff, LT DeWind… - The Journal of Clinical …, 1967 - academic.oup.com
The occurrence of a bizarre familial syndrome combining deaf-mutism, stippled epiphyses,
goiter and abnormally high PBI in 2 of 6 children of a consanguineous marriage is described. …

[HTML][HTML] A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene

…, XH Liao, TB Best, K Brockmann, S Refetoff - The American Journal of …, 2004 - cell.com
Thyroid hormones are iodothyronines that control growth and development, as well as brain
function and metabolism. Although thyroid hormone deficiency can be caused by defects of …

Mutations in SECISBP2 result in abnormal thyroid hormone metabolism

…, G Boran, L Schomburg, RE Weiss, S Refetoff - Nature …, 2005 - nature.com
Incorporation of selenocysteine (Sec), through recoding of the UGA stop codon, creates a
unique class of proteins. Mice lacking tRNA Sec die in utero 1 , but the in vivo role of other …

The syndromes of resistance to thyroid hormone

S Refetoff, RE Weiss, SJ Usala - Endocrine reviews, 1993 - academic.oup.com
I. Introduction THE syndromes of resistance to thyroid hormone are characterized by reduced
clinical and biochemical manifestations of thyroid hormone action relative to the circulating …

Targeted Expression of BRAFV600E in Thyroid Cells of Transgenic Mice Results in Papillary Thyroid Cancers that Undergo Dedifferentiation

…, EP Smith, L Zhang, N Mitsutake, XH Liao, S Refetoff… - Cancer research, 2005 - AACR
The BRAF T1799A mutation is the most common genetic alteration in papillary thyroid
carcinomas (PTC). It is also found in a subset of papillary microcarcinomas, consistent with a role …

Modulation of glucose regulation and insulin secretion by circadian rhythmicity and sleep.

…, D Roland, JP Spire, S Refetoff… - The Journal of …, 1991 - Am Soc Clin Investig
To define the roles of circadian rhythmicity (intrinsic effects of time of day independent of the
sleep or wake condition) and sleep (intrinsic effects of the sleep condition, irrespective of the …

[HTML][HTML] Small-molecule MAPK inhibitors restore radioiodine incorporation in mouse thyroid cancers with conditional BRAF activation

…, P Zanzonico, SM Larson, S Refetoff… - The Journal of …, 2011 - Am Soc Clin Investig
Advanced human thyroid cancers, particularly those that are refractory to treatment with
radioiodine (RAI), have a high prevalence of BRAF (v-raf murine sarcoma viral oncogene …

Reduced clearance rate of thyroxine-binding globulin (TBG) with increased sialylation: a mechanism for estrogen-induced elevation of serum TBG concentration

KB AIN, Y MORI, S Refetoff - The Journal of Clinical …, 1987 - academic.oup.com
Hyperestrogenemic states, including pregnancy, cause an increase in serum T 4 -binding
globulin (TBG) concentrations and an increase in the proportion of TBG molecules with greater …

[HTML][HTML] Identification of the maturation factor for dual oxidase: evolution of an eukaryotic operon equivalent

H Grasberger, S Refetoff - Journal of Biological Chemistry, 2006 - ASBMB
Dual oxidase 2 (DUOX2), an NADPH:O 2 oxidoreductase flavoprotein, is a component of the
thyroid H 2 O 2 generator crucial for hormone synthesis at the apical membrane. Mutations …

Fetal loss associated with excess thyroid hormone exposure

J Anselmo, D Cao, T Karrison, RE Weiss, S Refetoff - Jama, 2004 - jamanetwork.com
ContextMaternal hypothyroidism and hyperthyroidism have deleterious effects on the
outcome of pregnancy. While the effects of thyroid hormone (TH) deprivation on the fetus, …