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Refetoff, Samuel

One or more keywords matched the following items that are connected to Refetoff, Samuel

Item Type	Name
Concept	Congenital Hypothyroidism
Concept	Hypothyroidism
Academic Article	A mouse model of resistance to thyroid hormone produced by somatic gene transfer of a mutant thyroid hormone receptor.
Academic Article	Thyroid dysfunction is not associated with alterations in serum leptin levels.
Academic Article	Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.
Academic Article	Thyrotropin regulation by thyroid hormone in thyroid hormone receptor beta-deficient mice.
Academic Article	Congenital central isolated hypothyroidism caused by a homozygous mutation in the TSH-beta subunit gene.
Academic Article	Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism.
Academic Article	The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor.
Academic Article	Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene.
Academic Article	Steroid receptor coactivator-1 deficiency causes variable alterations in the modulation of T(3)-regulated transcription of genes in vivo.
Academic Article	Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene.
Academic Article	RXR receptor agonist suppression of thyroid function: central effects in the absence of thyroid hormone receptor.
Academic Article	Reduced nuclear triiodothyronine receptors in starvation-induced hypothyroidism.
Academic Article	A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.
Academic Article	Hypothyroidism in thyroid transcription factor 1 haploinsufficiency is caused by reduced expression of the thyroid-stimulating hormone receptor.
Academic Article	Sleep deprivation in the rat: XIII. The effect of hypothyroidism on sleep deprivation symptoms.
Academic Article	Pseudomalabsorption of levothyroxine.
Academic Article	Genomic organization of mouse ZAKI-4 gene that encodes ZAKI-4 alpha and beta isoforms, endogenous calcineurin inhibitors, and changes in the expression of these isoforms by thyroid hormone in adult mouse brain and heart.
Academic Article	Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter.
Academic Article	Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein.
Academic Article	Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1.
Academic Article	Preferential megalin-mediated transcytosis of low-hormonogenic thyroglobulin: a control mechanism for thyroid hormone release.
Academic Article	Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis.
Academic Article	Familial juvenile autoimmune hypothyroidism, pituitary enlargement, obesity, and insulin resistance.
Academic Article	Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity.
Academic Article	Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent.
Academic Article	Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor.
Academic Article	Type 3 deiodinase deficiency results in functional abnormalities at multiple levels of the thyroid axis.
Academic Article	A lack of thyroid hormones rather than excess thyrotropin causes abnormal skeletal development in hypothyroidism.
Academic Article	A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion.
Academic Article	Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis.
Academic Article	The computer in the diagnosis of thyroid disease.
Academic Article	Resistance to thyroid hormone in a patient with thyroid dysgenesis.
Academic Article	Induction of hypothyroidism and hypoprolactinemia by growth hormone producing rat pituitary tumors.
Academic Article	Mice deficient in dual oxidase maturation factors are severely hypothyroid.
Academic Article	Suppression of serum thyrotropin (TSH) by L-dopa in chronic hypothyroidism: interrelationships in the regulation of TSH and prolactin secretion.
Academic Article	The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation.
Academic Article	Serum thyroglobulin in the management of patients with thyroid cancer.
Academic Article	Measurement of thyroxine uptake from serum by cultured human hepatocytes as an index of thyroid status: reduced thyroxine uptake from serum of patients with nonthyroidal illness.
Academic Article	Immunoreactive growth hormone in endemic cretins in Ecuador.
Academic Article	Endemic goiter with hypothyroidism in three generations.
Academic Article	Peroxidase defect in congenital goiter with complete organification block.
Academic Article	Thyroid function in a uremic rat model. Evidence suggesting tissue hypothyroidism.
Academic Article	Measurement of circulating thyroid microsomal antibodies by the tanned red cell haemagglutination technique: its usefulness in the diagnosis of autoimmune thyroid diseases.
Academic Article	The value of serum thyroglobulin measurement in clinical practice.
Academic Article	Diurnal rhythm in total serum thyroxine levels.
Academic Article	Interrelationships in the regulation of TSH and prolactin secretion in man: effects of L-dopa, TRH and thyroid hormone in various combinations.
Academic Article	Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene.
Academic Article	Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.
Academic Article	Increased sensitivity to thyroid hormone in mice with complete deficiency of thyroid hormone receptor alpha.
Academic Article	Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.
Academic Article	Differentiation of two abnormalities in thyroid peroxidase causing organification defect and goitrous hypothyroidism.
Academic Article	Serum thyrotropin and prolactin in the syndrome of generalized resistance to thyroid hormone: responses to thyrotropin-releasing hormone stimulation and short term triiodothyronine suppression.
Academic Article	Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.
Academic Article	Metabolism of thyroxine-binding globulin in man. Abnormal rate of synthesis in inherited thyroxine-binding globulin deficiency and excess.
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	Leukocyte alkaline phosphatase in hypothyroidism and hyperthyroidism. Response to initiation of thyroxine replacement therapy.
Academic Article	Generation of functional thyroid from embryonic stem cells.
Academic Article	A study on the inheritance of thyroxine-binding globulin (TBG) deficiency from data obtained in 13 families detected by a neonatal screening program.
Academic Article	Sex hormone-binding globulin in the diagnosis of peripheral tissue resistance to thyroid hormone: the value of changes after short term triiodothyronine administration.
Academic Article	Neonatal hypothyroidism and goiter in one infant of each of two sets of twins due to maternal therapy with antithyroid drugs.
Academic Article	Abnormal thyroxine metabolism in hyposomatotrophic dwarfism and inhibition of responsiveness to TRH during GH therapy.
Academic Article	Thyroid hormone therapy.
Academic Article	Growth hormone responses to thyroid hormone in the neonatal rat: resistance and anamnestic response.
Academic Article	Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms.
Academic Article	Changes in thyroid status during perinatal development of MCT8-deficient male mice.
Academic Article	Long-term outcome of loss-of-function mutations in thyrotropin receptor gene.
Academic Article	American Thyroid Association Guide to investigating thyroid hormone economy and action in rodent and cell models.
Academic Article	A TSHß Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications.
Academic Article	Thyroid follicle development requires Smad1/5- and endothelial cell-dependent basement membrane assembly.
Academic Article	A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals.
Academic Article	DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.
Academic Article	Resistance to thyrotropin.
Academic Article	Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families.
Academic Article	Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome.
Academic Article	A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report.
Academic Article	Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.
Academic Article	Increased Anaplastic Lymphoma Kinase Activity Induces a Poorly Differentiated Thyroid Carcinoma in Mice.
Academic Article	Insertion of an Alu Element in Thyroglobulin Gene as a Novel Cause of Congenital Hypothyroidism.
Academic Article	Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism.
Academic Article	Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHß.
Academic Article	Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism.
Academic Article	XB130 Deficiency Causes Congenital Hypothyroidism in Mice due to Disorganized Apical Membrane Structure and Function of Thyrocytes.
Academic Article	XB130 Plays an Essential Role in Folliculogenesis Through Mediating Interactions Between Microfilament and Microtubule Systems in Thyrocytes.
Academic Article	Pathogenesis of Multinodular Goiter in Elderly XB130-Deficient Mice: Alteration of Thyroperoxidase Affinity with Iodide and Hydrogen Peroxide.
Academic Article	Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis.
Academic Article	Thyroidal Transcriptomic Profiles of Pathoadaptive Responses to Congenital Hypothyroidism in XB130 Knockout Mice.
Academic Article	A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism.
Academic Article	Maintaining the thyroid gland in mutant thyroglobulin-induced hypothyroidism requires thyroid cell proliferation that must continue in adulthood.
Academic Article	Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C).
Academic Article	Transplantable human thyroid organoids generated from embryonic stem cells to rescue hypothyroidism.
Academic Article	Foxe1 Deletion in the Adult Mouse Is Associated With Increased Thyroidal Mast Cells and Hypothyroidism.
Academic Article	Iodotyrosines Are Biomarkers for Preclinical Stages of Iodine-Deficient Hypothyroidism in Dehal1-Knockout Mice.
Grant	STUDIES ON REGULATION AND MECHANISM OF HORMONE ACTION

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Hypothyroidism