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Refetoff, Samuel

One or more keywords matched the following items that are connected to Refetoff, Samuel

Item Type	Name
Concept	Reverse Transcriptase Polymerase Chain Reaction
Concept	Polymerase Chain Reaction
Academic Article	The relative expression of mutant and normal thyroid hormone receptor genes in patients with generalized resistance to thyroid hormone determined by estimation of their specific messenger ribonucleic acid products.
Academic Article	In vitro expression of thyroxine-binding globulin (TBG) variants. Impaired secretion of TBGPRO-227 but not TBGPRO-113.
Academic Article	Multiple genetic factors in the heterogeneity of thyroid hormone resistance.
Academic Article	Mutation in the thyroid hormone receptor (TR) beta gene (M313T) not previously reported in two unrelated families with resistance to thyroid hormone (RTH).
Academic Article	Aberrant alternative splicing of thyroid hormone receptor in a TSH-secreting pituitary tumor is a mechanism for hormone resistance.
Academic Article	Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance.
Academic Article	Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene.
Academic Article	Mice with a targeted mutation in the thyroid hormone beta receptor gene exhibit impaired growth and resistance to thyroid hormone.
Academic Article	Sequence of the variant thyroxine-binding globulin (TBG) in a Montreal family with partial TBG deficiency.
Academic Article	Genomic organization of mouse ZAKI-4 gene that encodes ZAKI-4 alpha and beta isoforms, endogenous calcineurin inhibitors, and changes in the expression of these isoforms by thyroid hormone in adult mouse brain and heart.
Academic Article	Complete thyroxine-binding globulin (TBG) deficiency caused by a single nucleotide deletion in the TBG gene.
Academic Article	A novel splice variant involving the 5' untranslated region of thyroid hormone receptor beta1 (TRbeta1).
Academic Article	Thyroid hormone responsive genes in cultured human fibroblasts.
Academic Article	Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X).
Academic Article	Thyrotrophin receptor signaling dependence of Braf-induced thyroid tumor initiation in mice.
Academic Article	Thyroid hormone receptor a and regulation of type 3 deiodinase.
Academic Article	Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.
Academic Article	A lack of thyroid hormones rather than excess thyrotropin causes abnormal skeletal development in hypothyroidism.
Academic Article	Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation.
Academic Article	Role of type 2 deiodinase in response to acute lung injury (ALI) in mice.
Academic Article	Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.
Academic Article	Cross-talk between PI3K and estrogen in the mouse thyroid predisposes to the development of follicular carcinomas with a higher incidence in females.
Academic Article	Gene screening in Japanese families with complete deficiency of thyroxine-binding globulin demonstrates that a nucleotide deletion at codon 352 may be a race specific mutation.
Academic Article	In vivo interaction of steroid receptor coactivator (SRC)-1 and the activation function-2 domain of the thyroid hormone receptor (TR) beta in TRbeta E457A knock-in and SRC-1 knockout mice.
Academic Article	Comparison of thyroidectomized calf serum and stripped serum for the study of thyroid hormone action in human skin fibroblasts in vitro.
Academic Article	Thyroid hormone-regulated mouse cerebral cortex genes are differentially dependent on the source of the hormone: a study in monocarboxylate transporter-8- and deiodinase-2-deficient mice.
Academic Article	Polymorphism of a variant human thyrotropin receptor (hTSHR) gene.
Academic Article	The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency.
Academic Article	Desensitization and Incomplete Recovery of Hepatic Target Genes After Chronic Thyroid Hormone Treatment and Withdrawal in Male Adult Mice.

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Polymerase Chain Reaction