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Refetoff, Samuel
One or more keywords matched the following items that are connected to Refetoff, Samuel
Item TypeName
Concept DNA-Binding Proteins
Concept Protein Binding
Concept Thyroxine-Binding Proteins
Concept RNA-Binding Proteins
Concept GTP-Binding Protein alpha Subunits, Gs
Concept Insulin-Like Growth Factor Binding Proteins
Concept Iron-Binding Proteins
Concept Organic Cation Transport Proteins
Concept GTP-Binding Proteins
Concept Anion Transport Proteins
Concept Carrier Proteins
Concept Membrane Transport Proteins
Academic Article In vitro expression of thyroxine-binding globulin (TBG) variants. Impaired secretion of TBGPRO-227 but not TBGPRO-113.
Academic Article Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I.
Academic Article Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH.
Academic Article Thyroxine-binding globulin: organization of the gene and variants.
Academic Article An additional carbohydrate chain in the variant thyroxine-binding globulin-Gary (TBGAsn-96) impairs its secretion.
Academic Article Autoantibodies from patients with autoimmune thyroid disease do not interfere with the activity of the human iodide symporter gene stably transfected in CHO cells.
Academic Article Sequencing of the variant thyroxine-binding globulin (TBG)-San Diego reveals two nucleotide substitutions.
Academic Article Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism.
Academic Article Identification of thyroxine-binding globulin-San Diego in a family from Houston and its characterization by in vitro expression using Xenopus oocytes.
Academic Article Failure of membrane targeting causes the functional defect of two mutant sodium iodide symporters.
Academic Article Complete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-Kankakee).
Academic Article Complete thyroxine-binding globulin (TBG) deficiency in two families without mutations in coding or promoter regions of the TBG genes: in vitro demonstration of exon skipping.
Academic Article Characterization of T(4)-binding globulin cleaved by human leukocyte elastase.
Academic Article Low TSH requirement and goiter in transgenic mice overexpressing IGF-I and IGF-Ir receptor in the thyroid gland.
Academic Article Partial thyroxine-binding globulin (TBG) deficiency in a family with no detectable mutation of the TBG gene.
Academic Article Partial deficiency of thyroxine-binding globulin-Allentown is due to a mutation in the signal peptide.
Academic Article Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter.
Academic Article Three novel mutations causing complete T(4)-binding globulin deficiency.
Academic Article Complete thyroxine-binding globulin (TBG) deficiency caused by a single nucleotide deletion in the TBG gene.
Academic Article Thyroid hormone action in the absence of thyroid hormone receptor DNA-binding in vivo.
Academic Article Autosomal dominant resistance to thyrotropin as a distinct entity in five multigenerational kindreds: clinical characterization and exclusion of candidate loci.
Academic Article Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
Academic Article Negative regulation by thyroid hormone receptor requires an intact coactivator-binding surface.
Academic Article Sequencing of the variant thyroxine-binding globulin (TBG)-Quebec reveals two nucleotide substitutions.
Academic Article Replacement of Leu227 by Pro in thyroxine-binding globulin (TBG) is associated with complete TBG deficiency in three of eight families with this inherited defect.
Academic Article Molecular basis for the properties of the thyroxine-binding globulin-slow variant in American blacks.
Academic Article Novel biological and clinical aspects of thyroid hormone metabolism.
Academic Article Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination.
Academic Article Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity.
Academic Article Importance of monocarboxylate transporter 8 for the blood-brain barrier-dependent availability of 3,5,3'-triiodo-L-thyronine.
Academic Article The syndrome of inherited partial SBP2 deficiency in humans.
Academic Article Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X).
Academic Article A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport.
Academic Article A new inherited abnormality of thyroxine-binding globulin (TBG-San Diego) with decreased affinity for thyroxine and triiodothyronine.
Academic Article A mutation causing reduced biological activity and stability of thyroxine-binding globulin probably as a result of abnormal glycosylation of the molecule.
Academic Article Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta.
Academic Article Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion.
Academic Article Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.
Academic Article Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations.
Academic Article Inherited thyroxine-binding globulin abnormalities in man.
Academic Article Graves' disease associated with familial deficiency of thyroxine-binding globulin.
Academic Article Effect of estrogen on the synthesis and secretion of thyroxine-binding globulin by a human hepatoma cell line, Hep G2.
Academic Article Normal cellular uptake of thyroxine from serum of patients with familial dysalbuminemic hyperthyroxinemia or elevated thyroxine-binding globulin.
Academic Article Characterization of thyroxine-binding globulin secreted by a human hepatoma cell line.
Academic Article Isoelectric focusing variant thyroxine-binding globulin in American blacks: increased heat lability and reduced serum concentration.
Academic Article X-chromosome-linked inheritance of the variant thyroxine-binding globulin in Australian aborigines.
Academic Article The effects of low doses of depot estradiol and testosterone in teenagers with ovarian failure and Turner's syndrome.
Academic Article The computer in the diagnosis of thyroid disease.
Academic Article Elevated serum thyroglobulin level in congenital thyroxine-binding globulin deficiency.
Academic Article Human thyroxine-binding globulin gene: complete sequence and transcriptional regulation.
Academic Article Variant thyroxine-binding globulin in serum of Australian aborigines: a comparison with familial TBG deficiency in Caucasians and American blacks.
Academic Article Sequence of the variant thyroxine-binding globulin of Australian aborigines. Only one of two amino acid replacements is responsible for its altered properties.
Academic Article A novel thyroid hormone receptor-beta mutation that fails to bind nuclear receptor corepressor in a patient as an apparent cause of severe, predominantly pituitary resistance to thyroid hormone.
Academic Article Parameters of thyroid function in serum of 16 selected vertebrate species: a study of PBI, serum T4, free T4, and the pattern of T4 and T3 binding to serum proteins.
Academic Article T3 thyrotoxicosis. Thyrotoxicosis due to elevated serum triiodothyronine levels.
Academic Article Genetic polymorphism of rhesus thyroxine-binding prealbumin: evidence for tetrameric structure in primates.
Academic Article Inherited defects of thyroid hormone metabolism.
Academic Article Inherited X chromosome linked thyroxine-binding globulin (TBG) deficiency in a homozygous female.
Academic Article The role of glycosylation in the molecular conformation and secretion of thyroxine-binding globulin.
Academic Article Radioimmunoassay for serum triiodothyronine: evaluation of simple techniques to control interference from binding proteins.
Academic Article Continuing occurrence of thyroid carcinoma after irradiation to the neck in infancy and childhood.
Academic Article Nuclear triiodothyronine-binding protein: partial characterization and binding to chromatin.
Academic Article Alterations in thyroxine (T 4 ) and tri-iodothyronine (T 3 ) binding to serum proteins by heat.
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 Relationship of oligosaccharide modification to the cause of serum thyroxine-binding globulin excess.
Academic Article Direct application of radioiodinated aminoacyl tRNA for radiolabeling nascent proteins.
Academic Article Measurement of thyroxine uptake from serum by cultured human hepatocytes as an index of thyroid status: reduced thyroxine uptake from serum of patients with nonthyroidal illness.
Academic Article Estimation of the T 4 binding capacity of serum TBG and TBPA by a single T 4 load ion exchange resin method.
Academic Article Endemic goiter with hypothyroidism in three generations.
Academic Article Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone.
Academic Article Familial thyroxine-binding globulin deficiency in a patient with Turner's syndrome (XO). Genetic study of a kindred.
Academic Article TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature.
Academic Article Metabolism of L-thyroxine (T4) and L-triiodothyronine (T3) by human fibroblasts in tissue culture: evidence for cellular binding proteins and conversion of T4 to T3.
Academic Article High prevalence of thyroxine-binding globulin deficiency among Bedouin infants in southern Israel.
Academic Article Common tests of thyroid function in serum.
Academic Article Thyroid hormone relationships between maternal and fetal circulations in human pregnancy at term: a study in patients with normal and abnormal thyroid function.
Academic Article Distinct roles of deiodinases on the phenotype of Mct8 defect: a comparison of eight different mouse genotypes.
Academic Article Inherited abnormality of thyroxine-binding globulin with no demonstrable thyroxine-binding activity and high serum levels of denatured thyroxine-binding globulin.
Academic Article Variant thyroxine-binding globulin in serum of Australian aborigines: its physical, chemical and biological properties.
Academic Article Molecular cloning of an orphan G-protein-coupled receptor that constitutively activates adenylate cyclase.
Academic Article Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene.
Academic Article Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.
Academic Article Complete deficiency of thyroxine-binding globulin (TBG-CD Buffalo) caused by a new nonsense mutation in the thyroxine-binding globulin gene.
Academic Article Molecular cloning and primary structure of rat thyroxine-binding globulin.
Academic Article Thyroid hormone induces rapid activation of Akt/protein kinase B-mammalian target of rapamycin-p70S6K cascade through phosphatidylinositol 3-kinase in human fibroblasts.
Academic Article Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice.
Academic Article Metabolism of thyroxine-binding globulin in man. Abnormal rate of synthesis in inherited thyroxine-binding globulin deficiency and excess.
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 Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
Academic Article Reduced affinity for thyroxine in two of three structural thyroxine-binding prealbumin variants associated with familial amyloidotic polyneuropathy.
Academic Article Reduced clearance rate of thyroxine-binding globulin (TBG) with increased sialylation: a mechanism for estrogen-induced elevation of serum TBG concentration.
Academic Article A study on the inheritance of thyroxine-binding globulin (TBG) deficiency from data obtained in 13 families detected by a neonatal screening program.
Academic Article Study of four new kindreds with inherited thyroxine-binding globulin abnormalities. Possible mutations of a single gene locus.
Academic Article Parameters of thyroid function in maternal and cord serum at term pregnancy.
Academic Article The syndromes of reduced sensitivity to thyroid hormone.
Academic Article Changes in thyroid status during perinatal development of MCT8-deficient male mice.
Academic Article Placenta passage of the thyroid hormone analog DITPA to male wild-type and Mct8-deficient mice.
Academic Article Inherited defects of thyroid hormone-cell-membrane transport: review of recent findings.
Academic Article Mct8-deficient mice have increased energy expenditure and reduced fat mass that is abrogated by normalization of serum T3 levels.
Academic Article Increased oxidative metabolism and neurotransmitter cycling in the brain of mice lacking the thyroid hormone transporter SLC16A2 (MCT8).
Academic Article The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency.
Academic Article Inherited defects of thyroxine-binding proteins.
Academic Article Adeno Associated Virus 9-Based Gene Therapy Delivers a Functional Monocarboxylate Transporter 8, Improving Thyroid Hormone Availability to the Brain of Mct8-Deficient Mice.
Academic Article Overexpression of Interleukin-4 in the Thyroid of Transgenic Mice Upregulates the Expression of Duox1 and the Anion Transporter Pendrin.
Academic Article An Essential Physiological Role for MCT8 in Bone in Male Mice.
Academic Article Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families.
Academic Article GLIS3 is indispensable for TSH/TSHR-dependent thyroid hormone biosynthesis and follicular cell proliferation.
Academic Article Clinical recognition and evaluation of patients with inherited serum thyroid hormone-binding protein mutations.
Academic Article Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism.
Academic Article Nonautoimmune Hyperthyroidism Caused by a Somatic Mosaic GNAS Mutation Involving Part of the Thyroid Gland.
Academic Article Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism.
Grant THYROID PHYSIOLOGY STUDIES OF INHERITED DISORDERS
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  • Carrier Proteins