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Refetoff, Samuel
One or more keywords matched the following items that are connected to Refetoff, Samuel
Item TypeName
Concept Blood Proteins
Concept Complement System Proteins
Concept Chromosomal Proteins, Non-Histone
Concept DNA-Binding Proteins
Concept Membrane Proteins
Concept Microfilament Proteins
Concept Nerve Tissue Proteins
Concept Muscle Proteins
Concept Proto-Oncogene Proteins
Concept Proteins
Concept Repressor Proteins
Concept Thyroxine-Binding Proteins
Concept RNA-Binding Proteins
Concept Xenopus Proteins
Concept Insulin-Like Growth Factor Binding Proteins
Concept Iron-Binding Proteins
Concept Proto-Oncogene Proteins c-bcl-2
Concept Proto-Oncogene Proteins B-raf
Concept Bone Morphogenetic Proteins
Concept Organic Cation Transport Proteins
Concept Recombinant Proteins
Concept Ribosomal Proteins
Concept Adaptor Proteins, Signal Transducing
Concept Proto-Oncogene Proteins p21(ras)
Concept GTP-Binding Proteins
Concept Homeodomain Proteins
Concept Anion Transport Proteins
Concept Mutant Proteins
Concept Intracellular Signaling Peptides and Proteins
Concept Carrier Proteins
Concept Luminescent Proteins
Concept Neoplasm Proteins
Concept Nuclear Proteins
Concept Recombinant Fusion Proteins
Concept Membrane Transport Proteins
Concept Proto-Oncogene Proteins c-akt
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 A mouse model of resistance to thyroid hormone produced by somatic gene transfer of a mutant thyroid hormone receptor.
Academic Article Thyroid dysfunction is not associated with alterations in serum leptin levels.
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 Selective pituitary resistance to thyroid hormone produced by expression of a mutant thyroid hormone receptor beta gene in the pituitary gland of transgenic mice.
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 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 Aberrant alternative splicing of thyroid hormone receptor in a TSH-secreting pituitary tumor is a mechanism for hormone resistance.
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 Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes.
Academic Article Low TSH requirement and goiter in transgenic mice overexpressing IGF-I and IGF-Ir receptor in the thyroid gland.
Academic Article The effect of short-term treatment with recombinant human thyroid-stimulating hormones on leydig cell function in men.
Academic Article Hypothyroidism in thyroid transcription factor 1 haploinsufficiency is caused by reduced expression of the thyroid-stimulating hormone receptor.
Academic Article Partial thyroxine-binding globulin (TBG) deficiency in a family with no detectable mutation of the TBG gene.
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 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 Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice.
Academic Article Complete thyroxine-binding globulin (TBG) deficiency caused by a single nucleotide deletion in the TBG gene.
Academic Article Autosomal dominant resistance to thyrotropin as a distinct entity in five multigenerational kindreds: clinical characterization and exclusion of candidate loci.
Academic Article Targeted expression of BRAFV600E in thyroid cells of transgenic mice results in papillary thyroid cancers that undergo dedifferentiation.
Academic Article Identification of a serum protein polymorphism via two-dimensional electrophoresis. Family and population studies in two genetically isolated groups: North American Hutterites and Australian aborigines.
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 Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent.
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 Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor.
Academic Article Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion.
Academic Article Thyrotrophin receptor signaling dependence of Braf-induced thyroid tumor initiation in mice.
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 Oncogenic Kras requires simultaneous PI3K signaling to induce ERK activation and transform thyroid epithelial cells in vivo.
Academic Article A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion.
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 Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis.
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 computer in the diagnosis of thyroid disease.
Academic Article Elevated serum thyroglobulin level in congenital thyroxine-binding globulin deficiency.
Academic Article Cytosolic action of thyroid hormone leads to induction of hypoxia-inducible factor-1alpha and glycolytic genes.
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 Mice deficient in dual oxidase maturation factors are severely hypothyroid.
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 Molecular and structural characterization of the heat-resistant thyroxine-binding globulin-Chicago.
Academic Article Radioimmunoassay for serum triiodothyronine: evaluation of simple techniques to control interference from binding proteins.
Academic Article Stanniocalcin 1 induction by thyroid hormone depends on thyroid hormone receptor ß and phosphatidylinositol 3-kinase activation.
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 Genetic polymorphism in rhesus C3 and Gc globulin.
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 Effects of "jet lag" on hormonal patterns. I. Procedures, variations in total plasma proteins, and disruption of adrenocorticotropin-cortisol periodicity.
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 Bidirectional thyroxine exchange in pregnant sheep.
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 Regulation of glycosaminoglycan synthesis by thyroid hormone in vitro.
Academic Article High prevalence of thyroxine-binding globulin deficiency among Bedouin infants in southern Israel.
Academic Article Expression of a thyroid hormone-responsive recombinant gene introduced into adult mice livers by replication-defective adenovirus can be regulated by endogenous thyroid hormone receptor.
Academic Article Diurnal rhythm in total serum thyroxine levels.
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 The radioiodination of ribopolymers for use in hybridizational and molecular analyses.
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 Repulsive separation of the cytoplasmic ends of transmembrane helices 3 and 6 is linked to receptor activation in a novel thyrotropin receptor mutant (M626I).
Academic Article Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice.
Academic Article Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.
Academic Article Metabolism of thyroxine-binding globulin in man. Abnormal rate of synthesis in inherited thyroxine-binding globulin deficiency and excess.
Academic Article The action of thyroid hormone.
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 Small-molecule MAPK inhibitors restore radioiodine incorporation in mouse thyroid cancers with conditional BRAF activation.
Academic Article Generation of functional thyroid from embryonic stem cells.
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 Studies on the repression of basal transcription (silencing) by artificial and natural human thyroid hormone receptor-beta mutants.
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 Obatoclax overcomes resistance to cell death in aggressive thyroid carcinomas by countering Bcl2a1 and Mcl1 overexpression.
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 Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model.
Academic Article Aberrant Cerebellar Development in Mice Lacking Dual Oxidase Maturation Factors.
Academic Article Thyroid follicle development requires Smad1/5- and endothelial cell-dependent basement membrane assembly.
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 TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficient Mice.
Academic Article An Essential Physiological Role for MCT8 in Bone in Male Mice.
Academic Article Oncogene-induced senescence and its evasion in a mouse model of thyroid neoplasia.
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 SWI/SNF Complex Mutations Promote Thyroid Tumor Progression and Insensitivity to Redifferentiation Therapies.
Academic Article Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism.
Academic Article XB130 Deficiency Causes Congenital Hypothyroidism in Mice due to Disorganized Apical Membrane Structure and Function of Thyrocytes.
Academic Article XB130 Plays an Essential Role in Folliculogenesis Through Mediating Interactions Between Microfilament and Microtubule Systems in Thyrocytes.
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