Item Type | Name |
Concept
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Biological Transport, Active
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Concept
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Biological Transport
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Concept
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Neonatal Screening
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Concept
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Protein Transport
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Concept
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Amino Acid Transport Systems, Neutral
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Concept
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Active Transport, Cell Nucleus
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Concept
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Monocarboxylic Acid Transporters
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Concept
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Organic Cation Transport Proteins
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Concept
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Organic Anion Transporters, Sodium-Independent
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Concept
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Anion Transport Proteins
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Concept
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Organic Anion Transporters
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Concept
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Membrane Transport Proteins
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Concept
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Amino Acid Transport System y+
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Concept
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Amino Acid Transport System y+L
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Concept
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Glucose Transporter Type 4
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Academic Article
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Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism.
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Academic Article
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A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.
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Academic Article
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Neonatal detection of generalized resistance to thyroid hormone.
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Academic Article
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Defective thyroglobulin storage in LDL receptor-associated protein-deficient mice.
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Academic Article
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Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination.
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Academic Article
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Importance of monocarboxylate transporter 8 for the blood-brain barrier-dependent availability of 3,5,3'-triiodo-L-thyronine.
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Academic Article
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X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene.
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Academic Article
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A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport.
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Academic Article
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Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor.
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Academic Article
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Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion.
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Academic Article
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Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.
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Academic Article
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Cytosolic action of thyroid hormone leads to induction of hypoxia-inducible factor-1alpha and glycolytic genes.
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Academic Article
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Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene.
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Academic Article
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White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene.
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Academic Article
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Distinct roles of deiodinases on the phenotype of Mct8 defect: a comparison of eight different mouse genotypes.
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Academic Article
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Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene.
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Academic Article
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Thyroid hormone induces rapid activation of Akt/protein kinase B-mammalian target of rapamycin-p70S6K cascade through phosphatidylinositol 3-kinase in human fibroblasts.
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Academic Article
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Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice.
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Academic Article
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A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay.
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Academic Article
|
The action of thyroid hormone.
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Academic Article
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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.
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Academic Article
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Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
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Academic Article
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A study on the inheritance of thyroxine-binding globulin (TBG) deficiency from data obtained in 13 families detected by a neonatal screening program.
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Academic Article
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Study of four new kindreds with inherited thyroxine-binding globulin abnormalities. Possible mutations of a single gene locus.
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Academic Article
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Neonatal hypothyroidism and goiter in one infant of each of two sets of twins due to maternal therapy with antithyroid drugs.
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Academic Article
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Growth hormone responses to thyroid hormone in the neonatal rat: resistance and anamnestic response.
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Academic Article
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Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency.
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Academic Article
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The syndromes of reduced sensitivity to thyroid hormone.
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Academic Article
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Changes in thyroid status during perinatal development of MCT8-deficient male mice.
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Academic Article
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Placenta passage of the thyroid hormone analog DITPA to male wild-type and Mct8-deficient mice.
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Academic Article
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Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination.
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Academic Article
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Long-term outcome of loss-of-function mutations in thyrotropin receptor gene.
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Academic Article
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Inherited defects of thyroid hormone-cell-membrane transport: review of recent findings.
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Academic Article
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Mct8-deficient mice have increased energy expenditure and reduced fat mass that is abrogated by normalization of serum T3 levels.
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Academic Article
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Increased oxidative metabolism and neurotransmitter cycling in the brain of mice lacking the thyroid hormone transporter SLC16A2 (MCT8).
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Academic Article
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Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.
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Academic Article
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Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.
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Academic Article
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Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.
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Academic Article
|
A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress/unfolded protein response and impaired lysosomal processing.
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Academic Article
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The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency.
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Academic Article
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Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model.
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Academic Article
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Adeno Associated Virus 9-Based Gene Therapy Delivers a Functional Monocarboxylate Transporter 8, Improving Thyroid Hormone Availability to the Brain of Mct8-Deficient Mice.
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Academic Article
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Overexpression of Interleukin-4 in the Thyroid of Transgenic Mice Upregulates the Expression of Duox1 and the Anion Transporter Pendrin.
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Academic Article
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Modeling Psychomotor Retardation using iPSCs from MCT8-Deficient Patients Indicates a Prominent Role for the Blood-Brain Barrier.
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Academic Article
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An Essential Physiological Role for MCT8 in Bone in Male Mice.
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Academic Article
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Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.
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Academic Article
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GLIS3 is indispensable for TSH/TSHR-dependent thyroid hormone biosynthesis and follicular cell proliferation.
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Academic Article
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Intracerebroventricular administration of the thyroid hormone analog TRIAC increases its brain content in the absence of MCT8.
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Academic Article
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Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants.
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Academic Article
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Intranasal delivery of Thyroid hormones in MCT8 deficiency.
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Academic Article
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Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation.
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Academic Article
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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.
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Academic Article
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AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency.
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Grant
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THYROID PHYSIOLOGY STUDIES OF INHERITED DISORDERS
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Grant
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STUDIES ON REGULATION AND MECHANISM OF HORMONE ACTION
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Academic Article
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Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome.
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