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Refetoff, Samuel
One or more keywords matched the following items that are connected to
Refetoff, Samuel
Item Type
Name
Concept
Iodide Peroxidase
Academic Article
Expression of thyroid peroxidase in EBV-transformed B cell lines using adenovirus.
Academic Article
Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.
Academic Article
Type 1 iodothyronine deiodinase in the house musk shrew (Suncus murinus, Insectivora: Soricidae): cloning and characterization of complementary DNA, unique tissue distribution and regulation by T(3).
Academic Article
Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
Academic Article
Negative regulation by thyroid hormone receptor requires an intact coactivator-binding surface.
Academic Article
Unique regulation of thyroid hormone metabolism during fasting in the house musk shrew (Suncus murinus, Insectivora: Soricidae).
Academic Article
Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis.
Academic Article
Novel biological and clinical aspects of thyroid hormone metabolism.
Academic Article
Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination.
Academic Article
Effect of total sleep deprivation on 5'-deiodinase activity of rat brown adipose tissue.
Academic Article
A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport.
Academic Article
Thyrotrophin receptor signaling dependence of Braf-induced thyroid tumor initiation in mice.
Academic Article
Thyroid hormone receptor a and regulation of type 3 deiodinase.
Academic Article
Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.
Academic Article
Type 3 deiodinase deficiency results in functional abnormalities at multiple levels of the thyroid axis.
Academic Article
Role of type 2 deiodinase in response to acute lung injury (ALI) in mice.
Academic Article
The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation.
Academic Article
Inherited defects of thyroid hormone metabolism.
Academic Article
Peroxidase defect in congenital goiter with complete organification block.
Academic Article
Familial goitre with partial iodine organification defect, lack of thyroglobulin, and high levels of thyroid peroxidase.
Academic Article
Distinct roles of deiodinases on the phenotype of Mct8 defect: a comparison of eight different mouse genotypes.
Academic Article
Differentiation of two abnormalities in thyroid peroxidase causing organification defect and goitrous hypothyroidism.
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
Changes in thyroid status during perinatal development of MCT8-deficient male mice.
Academic Article
Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination.
Academic Article
Increased oxidative metabolism and neurotransmitter cycling in the brain of mice lacking the thyroid hormone transporter SLC16A2 (MCT8).
Academic Article
An Essential Physiological Role for MCT8 in Bone in Male Mice.
Academic Article
Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families.
Academic Article
Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism.
Academic Article
Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism.
Academic Article
Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism.
Academic Article
Pathogenesis of Multinodular Goiter in Elderly XB130-Deficient Mice: Alteration of Thyroperoxidase Affinity with Iodide and Hydrogen Peroxide.
Academic Article
Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C).
Academic Article
Iodotyrosines Are Biomarkers for Preclinical Stages of Iodine-Deficient Hypothyroidism in Dehal1-Knockout Mice.
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Peroxidase