Item Type | Name |
Concept
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Acid-Base Equilibrium
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Concept
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Acidosis
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Concept
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Amino Acids
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Concept
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Amino Acid Metabolism, Inborn Errors
|
Concept
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Amino Acid Sequence
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Concept
|
Central Nervous System Diseases
|
Concept
|
Biological Transport
|
Concept
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Nucleic Acid Conformation
|
Concept
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Amino Acid Substitution
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Concept
|
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
|
Concept
|
Organic Anion Transporters
|
Concept
|
Membrane Transport Proteins
|
Concept
|
Amino Acid Transport System y+
|
Concept
|
Amino Acid Transport System y+L
|
Concept
|
Glucose Transporter Type 4
|
Concept
|
Young Adult
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Academic Article
|
Complete thyroxine-binding globulin (TBG) deficiency in two families without mutations in coding or promoter regions of the TBG genes: in vitro demonstration of exon skipping.
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Academic Article
|
A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.
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Academic Article
|
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
|
Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination.
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Academic Article
|
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
|
X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene.
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Academic Article
|
A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport.
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Academic Article
|
Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion.
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Academic Article
|
Cytosolic action of thyroid hormone leads to induction of hypoxia-inducible factor-1alpha and glycolytic genes.
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Academic Article
|
Pituitary-thyroid setpoint and thyrotropin receptor expression in consomic rats.
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Academic Article
|
Distinct roles of deiodinases on the phenotype of Mct8 defect: a comparison of eight different mouse genotypes.
|
Academic Article
|
Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice.
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Academic Article
|
A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay.
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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.
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Academic Article
|
Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency.
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Academic Article
|
The syndromes of reduced sensitivity to thyroid hormone.
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Academic Article
|
The relationship between aminoaciduria and plasma hemoglobin levels.
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Academic Article
|
Changes in thyroid status during perinatal development of MCT8-deficient male mice.
|
Academic Article
|
A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer.
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Academic Article
|
Placenta passage of the thyroid hormone analog DITPA to male wild-type and Mct8-deficient mice.
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Academic Article
|
Inherited defects of thyroid hormone-cell-membrane transport: review of recent findings.
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Academic Article
|
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
|
A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction.
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Academic Article
|
Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.
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Academic Article
|
Cerebral cortex hyperthyroidism of newborn mct8-deficient mice transiently suppressed by lat2 inactivation.
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Academic Article
|
Inherited defects in thyroid hormone cell-membrane transport and metabolism.
|
Academic Article
|
Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.
|
Academic Article
|
Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.
|
Academic Article
|
The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency.
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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.
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Academic Article
|
An Essential Physiological Role for MCT8 in Bone in Male Mice.
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Academic Article
|
[Influencing of the maternal and fetal acid-base equilibrium through labor under analgesia].
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Academic Article
|
Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests.
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Academic Article
|
Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications.
|
Academic Article
|
Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line.
|
Academic Article
|
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
|
Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHß.
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Academic Article
|
Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations.
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Academic Article
|
Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation.
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Academic Article
|
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
|
AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency.
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Academic Article
|
Year in Thyroidology: Basic Science.
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Academic Article
|
Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome.
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