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Refetoff, Samuel

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Item Type	Name
Concept	Thyroxine-Binding Globulin
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	Identification of thyroxine-binding globulin-San Diego in a family from Houston and its characterization by in vitro expression using Xenopus oocytes.
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	Sequence of the variant thyroxine-binding globulin (TBG) in a Montreal family with partial TBG deficiency.
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	Characterization and primary structures of bovine and porcine thyroxine-binding globulin.
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	Inherited thyroxine-binding globulin abnormalities in man.
Academic Article	Two new inherited defects of the thyroxine-binding globulin (TBG) molecule presenting as partial TBG deficiency.
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	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	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	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	Familial thyroxine-binding globulin deficiency in a patient with Turner's syndrome (XO). Genetic study of a kindred.
Academic Article	High prevalence of thyroxine-binding globulin deficiency among Bedouin infants in southern Israel.
Academic Article	Molecular basis of inherited thyroxine-binding globulin defects.
Academic Article	Radioimmunoassays specific for the tertiary and primary structures of thyroxine-binding globulin (TBG): measurement of denatured TBG 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	Detection of the thyroxine-binding globulin (TBG) gene in six unrelated families with complete TBG deficiency.
Academic Article	Inherited heat-stable variant thyroxine-binding globulin (TBG-Chicago).
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	Studies on human thyroxine-binding globulin (TBG). IX. Some physical, chemical, and biological properties of radioiodinated TBG and partially desialylated TBG.
Academic Article	Coexistence of THRB and TBG gene mutations in a Turkish family.
Academic Article	A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer.
Academic Article	A Novel Mutation in the TBG Gene Producing Partial Thyroxine-Binding Globulin Deficiency (Glencoe) Identified in 2 Families.
Grant	STUDIES ON REGULATION AND MECHANISM OF HORMONE ACTION

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Thyroxine Binding Globulin