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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
Search Criteria
Membranes