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Search Results to Samuel Refetoff

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

Item TypeName
Concept Thyroxine-Binding 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 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 Sequencing of the variant thyroxine-binding globulin (TBG)-San Diego reveals two nucleotide substitutions.
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 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 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 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 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 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 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 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 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 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 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 High prevalence of thyroxine-binding globulin deficiency among Bedouin infants in southern Israel.
Academic Article Common tests of thyroid function in serum.
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 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 Metabolism of thyroxine-binding globulin in man. Abnormal rate of synthesis in inherited thyroxine-binding globulin deficiency and excess.
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 Inherited defects of thyroxine-binding proteins.

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