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Refetoff, Samuel

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

Item Type	Name
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.
Grant	THYROID PHYSIOLOGY STUDIES OF INHERITED DISORDERS

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