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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 Amino Acid Sequence
Concept Repetitive Sequences, Amino Acid
Academic Article Resistance to thyrotropin and other abnormalities of the thyrotropin receptor.
Academic Article Structure-function relationships of two loss-of-function mutations of the thyrotropin receptor gene.
Academic Article Congenital central isolated hypothyroidism caused by a homozygous mutation in the TSH-beta subunit gene.
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 Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene.
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 Type 1 iodothyronine deiodinase in the house musk shrew (Suncus murinus, Insectivora: Soricidae): cloning and characterization of complementary DNA, unique tissue distribution and regulation by T(3).
Academic Article Resistance to thyrotropin.
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 Three novel mutations causing complete T(4)-binding globulin deficiency.
Academic Article Characterization and primary structures of bovine and porcine thyroxine-binding globulin.
Academic Article Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice.
Academic Article Thyroid hormone action in the absence of thyroid hormone receptor DNA-binding in vivo.
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 Delineation of the discontinuous-conformational epitope of a monoclonal antibody displaying full in vitro and in vivo thyrotropin activity.
Academic Article Molecular basis for the properties of the thyroxine-binding globulin-slow variant in American blacks.
Academic Article The syndrome of resistance to thyroid stimulating hormone.
Academic Article Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent.
Academic Article Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.
Academic Article Inherited thyroxine-binding globulin abnormalities in man.
Academic Article Human thyroxine-binding globulin gene: complete sequence and transcriptional regulation.
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 Molecular and structural characterization of the heat-resistant thyroxine-binding globulin-Chicago.
Academic Article Low intelligence but not attention deficit hyperactivity disorder is associated with resistance to thyroid hormone caused by mutation R316H in the thyroid hormone receptor beta gene.
Academic Article Pituitary-thyroid setpoint and thyrotropin receptor expression in consomic rats.
Academic Article Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene.
Academic Article Radioimmunoassays specific for the tertiary and primary structures of thyroxine-binding globulin (TBG): measurement of denatured TBG in serum.
Academic Article Molecular cloning of an orphan G-protein-coupled receptor that constitutively activates adenylate cyclase.
Academic Article Molecular cloning and primary structure of rat thyroxine-binding globulin.
Academic Article Resistance to thyroid hormone.
Academic Article Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.

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