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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 Cell Membrane Permeability
Concept Basement Membrane
Concept Cell Membrane
Concept Membrane Proteins
Concept Membrane Transport Proteins
Academic Article Structure-function relationships of two loss-of-function mutations of the thyrotropin receptor gene.
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 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 Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination.
Academic Article Importance of monocarboxylate transporter 8 for the blood-brain barrier-dependent availability of 3,5,3'-triiodo-L-thyronine.
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 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 Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.
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 Mice deficient in dual oxidase maturation factors are severely hypothyroid.
Academic Article Regulation of glycosaminoglycan synthesis by thyroid hormone in vitro.
Academic Article Distinct roles of deiodinases on the phenotype of Mct8 defect: a comparison of eight different mouse genotypes.
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 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 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 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 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 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 Clinical recognition and evaluation of patients with inherited serum thyroid hormone-binding protein mutations.
Academic Article Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation.
Academic Article XB130 Deficiency Causes Congenital Hypothyroidism in Mice due to Disorganized Apical Membrane Structure and Function of Thyrocytes.

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