| Item Type | Name |
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Concept
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Receptors, Thyroid Hormone
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Concept
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Thyroid Diseases
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Concept
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Thyroid Function Tests
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Concept
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Thyroid Hormones
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Concept
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Thyroid Hormone Resistance Syndrome
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Concept
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Thyroid Hormone Receptors alpha
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Concept
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Thyroid Neoplasms
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Concept
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Thyroid Hormone Receptors beta
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Concept
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Thyroid Dysgenesis
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Concept
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Thyroid Gland
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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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Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice.
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Academic Article
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A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone.
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Academic Article
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A new case of resistance to thyroid hormone caused by a de novo P453T mutation in the thyroid hormone receptor gene in an Israeli child.
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Academic Article
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Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
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Academic Article
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Thyroid hormone mediated changes in gene expression can be initiated by cytosolic action of the thyroid hormone receptor beta through the phosphatidylinositol 3-kinase pathway.
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Academic Article
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Novel biological and clinical aspects of thyroid hormone metabolism.
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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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Thyroid hormone responsive genes in cultured human fibroblasts.
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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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The syndrome of inherited partial SBP2 deficiency in humans.
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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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A case of Resistance to Thyroid Hormone without mutation in the thyroid hormone receptor beta.
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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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Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations.
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Academic Article
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Consecutive mutational events in a TSHR allele of Arab families with resistance to thyroid stimulating hormone.
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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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The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation.
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Academic Article
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Inherited defects of thyroid hormone metabolism.
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Academic Article
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Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.
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Academic Article
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Stanniocalcin 1 induction by thyroid hormone depends on thyroid hormone receptor ß and phosphatidylinositol 3-kinase activation.
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Academic Article
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Pituitary-thyroid setpoint and thyrotropin receptor expression in consomic rats.
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Academic Article
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Approach to the patient with resistance to thyroid hormone and pregnancy.
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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
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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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Generation of functional thyroid from embryonic stem cells.
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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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A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer.
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Academic Article
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[The autoimmune component in periodontal diseases in patients with thyroid dysfunction].
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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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Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease.
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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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A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction.
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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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Inherited defects in thyroid hormone cell-membrane 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
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A TSHß Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications.
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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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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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Fetal Exposure to High Maternal Thyroid Hormone Levels Causes Central Resistance to Thyroid Hormone in Adult Humans and Mice.
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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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A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy.
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Academic Article
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Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families.
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Academic Article
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Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests.
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Academic Article
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Thyroid Hormone Metabolism Defects in a Mouse Model of SBP2 Deficiency.
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Academic Article
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Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications.
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Academic Article
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Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line.
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Academic Article
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Paradigms of Dynamic Control of Thyroid Hormone Signaling.
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Academic Article
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Very Severe Resistance to Thyroid Hormone ß in One of Three Affected Members of a Family with a Novel Mutation in the THRB Gene.
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Academic Article
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Role of the Thyroid Gland in Expression of the Thyroid Phenotype of Sbp2-Deficient Mice.
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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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Insertion of an Alu Element in Thyroglobulin Gene as a Novel Cause of Congenital Hypothyroidism.
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Academic Article
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Nonautoimmune Hyperthyroidism Caused by a Somatic Mosaic GNAS Mutation Involving Part of the Thyroid Gland.
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Academic Article
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A Novel G385E Variant in the Cold Region of the T3-Binding Domain of Thyroid Hormone Receptor Beta Gene and Investigations to Assess Its Clinical Significance.
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Academic Article
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Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations.
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Academic Article
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Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism.
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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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Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor a Gene (pC380SfsX9) Mutation.
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Academic Article
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Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism.
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Academic Article
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Extended Absorption of Liothyronine from Poly-Zinc-Liothyronine: Results from a Phase 1, Double-Blind, Randomized, and Controlled Study in Humans.
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Academic Article
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Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis.
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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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Academic Article
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A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism.
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Academic Article
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Graves' disease and papillary thyroid carcinoma: case report and literature review of a single academic center.
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Academic Article
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Year in Thyroidology: Basic Science.
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Academic Article
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Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C).
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Concept
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Thyroid Nuclear Factor 1
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Academic Article
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Effect of the Fetal THRB Genotype on the Placenta.
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Academic Article
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The Relationship Between Fetal THRB Genotype and Maternal Thyroid Function.
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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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