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Refetoff, Samuel

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

Item Type	Name
Concept	Symporters
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	Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein.
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	X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene.
Academic Article	A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport.
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	White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene.
Academic Article	Distinct roles of deiodinases on the phenotype of Mct8 defect: a comparison of eight different mouse genotypes.
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	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	Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency.
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	Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination.
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	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	Overexpression of Interleukin-4 in the Thyroid of Transgenic Mice Upregulates the Expression of Duox1 and the Anion Transporter Pendrin.
Academic Article	Modeling Psychomotor Retardation using iPSCs from MCT8-Deficient Patients Indicates a Prominent Role for the Blood-Brain Barrier.
Academic Article	An Essential Physiological Role for MCT8 in Bone in Male Mice.
Academic Article	GLIS3 is indispensable for TSH/TSHR-dependent thyroid hormone biosynthesis and follicular cell proliferation.
Academic Article	Class III PI3K Vps34 Controls Thyroid Hormone Production by Regulating Thyroglobulin Iodination, Lysosomal Proteolysis, and Tissue Homeostasis.
Academic Article	Intracerebroventricular administration of the thyroid hormone analog TRIAC increases its brain content in the absence of MCT8.
Academic Article	Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants.
Academic Article	Intranasal delivery of Thyroid hormones in MCT8 deficiency.
Academic Article	Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation.
Academic Article	Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency.
Academic Article	AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency.
Academic Article	Combined Levothyroxine and Propylthiouracil Treatment in Children with Monocarboxylate Transporter 8 Deficiency: A Multicenter Case Series of 12 Patients.

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