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One or more keywords matched the following items that are connected to Dumitrescu, Alexandra M.
Item TypeName
Concept Dependovirus
Concept Adolescent
Concept Acid-Base Equilibrium
Concept Acidosis
Concept Aged
Concept Amino Acids
Concept Amino Acid Metabolism, Inborn Errors
Concept Amino Acid Sequence
Concept Adult
Concept Central Nervous System Diseases
Concept Animals
Concept Animals, Newborn
Concept Base Sequence
Concept Biological Transport
Concept Cattle
Concept Child
Concept Homozygote
Concept Drosophila
Concept Child, Preschool
Concept Leukemia
Concept Family
Concept Infant, Newborn
Concept Mice, Inbred C3H
Concept Terminology as Topic
Concept Liver Neoplasms
Concept Infant
Concept Lung Diseases
Concept Mice, Inbred Strains
Concept Molecular Sequence Data
Concept Mice, Inbred BALB C
Concept Mice, Inbred C57BL
Concept Middle Aged
Concept Nucleic Acid Conformation
Concept Liver
Concept Polymorphism, Restriction Fragment Length
Concept Humans
Concept Islets of Langerhans
Concept Lung
Concept Mice, Inbred DBA
Concept Mice, Knockout
Concept Rats, Inbred Dahl
Concept Fusion Regulatory Protein 1, Light Chains
Concept Arabs
Concept Genetic Diseases, X-Linked
Concept Mental Retardation, X-Linked
Concept Amino Acid Substitution
Concept Monocarboxylic Acid Transporters
Concept Organic Cation Transport Proteins
Concept Organic Anion Transporters, Sodium-Independent
Concept Animals, Genetically Modified
Concept Mice
Concept Rats, Inbred BN
Concept Acute Lung Injury
Concept Rats
Concept Zebrafish
Concept Mice, 129 Strain
Concept Vertebrates
Concept Organic Anion Transporters
Concept Ventilator-Induced Lung Injury
Concept Siblings
Concept Cell Line, Tumor
Concept Cell Line
Concept Heterozygote
Concept Lymphocytes
Concept Mothers
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
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.
Academic Article A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.
Academic Article Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice.
Academic Article A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone.
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 The syndrome of inherited partial SBP2 deficiency in humans.
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 Role of type 2 deiodinase in response to acute lung injury (ALI) in mice.
Academic Article Cytosolic action of thyroid hormone leads to induction of hypoxia-inducible factor-1alpha and glycolytic genes.
Academic Article Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.
Academic Article Pituitary-thyroid setpoint and thyrotropin receptor expression in consomic rats.
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.
Academic Article A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay.
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 Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency.
Academic Article The syndromes of reduced sensitivity to thyroid hormone.
Academic Article The relationship between aminoaciduria and plasma hemoglobin levels.
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.
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 A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature.
Academic Article A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction.
Academic Article Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.
Academic Article Cerebral cortex hyperthyroidism of newborn mct8-deficient mice transiently suppressed by lat2 inactivation.
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.
Academic Article The role of Spectral Domain Optical Coherence Tomography in monitoring uncontrolled hypertensive type 2 diabetic patients.
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 [Blast study in acute leukemia using monoclonal antibodies].
Academic Article Fetal Exposure to High Maternal Thyroid Hormone Levels Causes Central Resistance to Thyroid Hormone in Adult Humans and Mice.
Academic Article An Essential Physiological Role for MCT8 in Bone in Male Mice.
Academic Article [Influencing of the maternal and fetal acid-base equilibrium through labor under analgesia].
Academic Article Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests.
Academic Article Thyroid Hormone Metabolism Defects in a Mouse Model of SBP2 Deficiency.
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.
Academic Article Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHß.
Academic Article Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations.
Academic Article Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation.
Academic Article Selenocysteine insertion sequence binding protein 2 (Sbp2) in the sex-specific regulation of selenoprotein gene expression in mouse pancreatic islets.
Academic Article Extended Absorption of Liothyronine from Poly-Zinc-Liothyronine: Results from a Phase 1, Double-Blind, Randomized, and Controlled Study in Humans.
Academic Article AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency.
Academic Article A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism.
Academic Article Graves' disease and papillary thyroid carcinoma: case report and literature review of a single academic center.
Academic Article Year in Thyroidology: Basic Science.
Academic Article Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome.
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