S Refetoff
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Explore the profile of S Refetoff including associated specialties, affiliations and a list of published articles.
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281
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3712
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Recent Articles
1.
Mimoto M, Refetoff S
J Endocrinol Invest
. 2019 Jul;
43(1):31-41.
PMID: 31352644
There are three important thyroid hormone-binding proteins in human serum, thyroxine-binding globulin, transthyretin, and albumin. Genetic variation in these proteins can lead to altered thyroid hormone binding and abnormalities in...
2.
Lozanov B, Gorcheva D, Lozanov L, Koleva V, Refetoff S
Acta Endocrinol (Buchar)
. 2019 Jun;
13(4):515-518.
PMID: 31149227
Objective: The non-effectiveness of levothyroxine administration in hypothyroidism depends on many factors and mechanisms influencing its absorption in small intestins or bounding of circulating hormone with different active molecules. Methods:...
3.
Watanabe Y, Sharwood E, Goodwin B, Creech M, Hassan H, Netea M, et al.
BMC Med Genet
. 2018 May;
19(1):69.
PMID: 29720101
Background: Congenital hypothyroidism (CH) has an incidence of approximately 1:3000, but only 15% have mutations in the thyroid hormone synthesis pathways. Genetic analysis allows for the precise diagnosis. Case Presentation:...
4.
Gaide Chevronnay H, Janssens V, Van Der Smissen P, Rocca C, Liao X, Refetoff S, et al.
Endocrinology
. 2016 Jan;
157(4):1363-71.
PMID: 26812160
Hypothyroidism is the most frequent and earliest endocrine complication in cystinosis, a multisystemic lysosomal storage disease caused by defective transmembrane cystine transporter, cystinosin (CTNS gene). We recently demonstrated in Ctns(-/-)...
5.
Gaide Chevronnay H, Janssens V, Van Der Smissen P, Liao X, Abid Y, Nevo N, et al.
Endocrinology
. 2015 Mar;
156(6):2349-64.
PMID: 25811319
Thyroid hormones are released from thyroglobulin (Tg) in lysosomes, which are impaired in infantile/nephropathic cystinosis. Cystinosis is a lysosomal cystine storage disease due to defective cystine exporter, cystinosin. Cystinotic children...
6.
Dumitrescu A, Refetoff S
Ann Endocrinol (Paris)
. 2011 Apr;
72(2):95-8.
PMID: 21511232
Intracellular metabolism of thyroid hormone and availability of the active hormone, triiodothyronine is regulated by three selenoprotein iodothyronine deiodinases (Ds). While acquired changes in D activities are common, inherited defects...
7.
Moeller L, Haselhorst N, Dumitrescu A, Cao X, Seo H, Refetoff S, et al.
Exp Clin Endocrinol Diabetes
. 2010 Sep;
119(2):81-5.
PMID: 20827662
Context: Thyroid hormone (TH) mediated changes in gene expression were thought to be primarily initiated by the nuclear TH receptor (TR) binding to a thyroid hormone response element in the...
8.
Antico-Arciuch V, Dima M, Liao X, Refetoff S, Di Cristofano A
Oncogene
. 2010 Aug;
29(42):5678-86.
PMID: 20676139
It is well known that thyroid disease is more frequent in women than in men; however, the molecular basis for this gender-based difference is still poorly understood. The activation of...
9.
Bayraktaroglu T, Noel J, Alagol F, Colak N, Mukaddes N, Refetoff S
Exp Clin Endocrinol Diabetes
. 2008 Jun;
117(1):34-7.
PMID: 18561095
Background: Resistance to thyroid hormone (RTH) is a dominantly inherited syndrome characterized by decreased responsiveness of target tissues to thyroid hormone. Two members of a Turkish family, a mother and...
10.
McDermott J, Agha A, McMahon M, Gasparro D, Moeller L, Dumitrescu A, et al.
Ir J Med Sci
. 2006 Feb;
174(4):60-4.
PMID: 16445164
Background: Resistance to Thyroid Hormone (RTH) is a condition caused by tissue hyposensitivity to the effects of circulating thyroid hormone, and may be misdiagnosed as hyperthyroidism. Aims: We report the...