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Refetoff, Samuel
One or more keywords matched the following items that are connected to Refetoff, Samuel
Item TypeName
Concept Mutation
Concept Germ-Line Mutation
Concept Point Mutation
Concept Mutation, Missense
Concept Frameshift Mutation
Academic Article The relative expression of mutant and normal thyroid hormone receptor genes in patients with generalized resistance to thyroid hormone determined by estimation of their specific messenger ribonucleic acid products.
Academic Article Multiple genetic factors in the heterogeneity of thyroid hormone resistance.
Academic Article Phenotype differences of resistance to thyroid hormone in two unrelated families with an identical mutation in the thyroid hormone receptor beta gene (R320C).
Academic Article Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families.
Academic Article Resistance to thyroid hormone caused by two mutant thyroid hormone receptors beta, R243Q and R243W, with marked impairment of function that cannot be explained by altered in vitro 3,5,3'-triiodothyroinine binding affinity.
Academic Article A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study.
Academic Article A mouse model of resistance to thyroid hormone produced by somatic gene transfer of a mutant thyroid hormone receptor.
Academic Article Resistance to thyrotropin and other abnormalities of the thyrotropin receptor.
Academic Article Mutation in the thyroid hormone receptor (TR) beta gene (M313T) not previously reported in two unrelated families with resistance to thyroid hormone (RTH).
Academic Article New insights on the mechanism(s) of the dominant negative effect of mutant thyroid hormone receptor in generalized resistance to thyroid hormone.
Academic Article A novel point mutation of thyroid hormone receptor beta gene in a family with resistance to thyroid hormone.
Academic Article Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH.
Academic Article Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.
Academic Article A new mutation in the thyroid hormone receptor (TR) beta gene (V458A) in a family with resistance to thyroid hormone (RTH).
Academic Article An additional carbohydrate chain in the variant thyroxine-binding globulin-Gary (TBGAsn-96) impairs its secretion.
Academic Article Structure-function relationships of two loss-of-function mutations of the thyrotropin receptor gene.
Academic Article Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor.
Academic Article Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin (R218P) shows an apparent discrepancy between serum concentration and affinity for thyroxine.
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 Failure of membrane targeting causes the functional defect of two mutant sodium iodide symporters.
Academic Article Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene.
Academic Article Complete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-Kankakee).
Academic Article Treatment of resistance to thyroid hormone--primum non nocere.
Academic Article Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance.
Academic Article Thyroid hormone resistance.
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 Resistance to thyroid hormone.
Academic Article Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene.
Academic Article Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene.
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 Resistance to thyroid hormone caused by a new mutation (V336M) in the thyroid hormone receptor beta gene.
Academic Article Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes.
Academic Article Mice with a targeted mutation in the thyroid hormone beta receptor gene exhibit impaired growth and resistance to thyroid hormone.
Academic Article Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene.
Academic Article Resistance to thyroid hormone with and without receptor gene mutations.
Academic Article Resistance to thyrotropin.
Academic Article A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.
Academic Article Partial thyroxine-binding globulin (TBG) deficiency in a family with no detectable mutation of the TBG gene.
Academic Article Regression of a large goiter in a patient with resistance to thyroid hormone by every other day treatment with triiodothyronine.
Academic Article Partial deficiency of thyroxine-binding globulin-Allentown is due to a mutation in the signal peptide.
Academic Article Three novel mutations causing complete T(4)-binding globulin deficiency.
Academic Article Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice.
Academic Article Complete thyroxine-binding globulin (TBG) deficiency caused by a single nucleotide deletion in the TBG gene.
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 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.
Academic Article Thyroid hormone action in the absence of thyroid hormone receptor DNA-binding in vivo.
Academic Article Targeted expression of BRAFV600E in thyroid cells of transgenic mice results in papillary thyroid cancers that undergo dedifferentiation.
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 Sequencing of the variant thyroxine-binding globulin (TBG)-Quebec reveals two nucleotide substitutions.
Academic Article Molecular basis for the properties of the thyroxine-binding globulin-slow variant in American blacks.
Academic Article The syndrome of resistance to thyroid stimulating hormone.
Academic Article Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis.
Academic Article International Union of Pharmacology. LIX. The pharmacology and classification of the nuclear receptor superfamily: thyroid hormone receptors.
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 A novel splice variant involving the 5' untranslated region of thyroid hormone receptor beta1 (TRbeta1).
Academic Article Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity.
Academic Article Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community.
Academic Article X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene.
Academic Article Tissue responses to thyroid hormone in a kindred with resistance to thyroid hormone harboring a commonly occurring mutation in the thyroid hormone receptor beta gene (P453T).
Academic Article The syndrome of inherited partial SBP2 deficiency in humans.
Academic Article Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X).
Academic Article A case of Resistance to Thyroid Hormone without mutation in the thyroid hormone receptor beta.
Academic Article A mutation causing reduced biological activity and stability of thyroxine-binding globulin probably as a result of abnormal glycosylation of the molecule.
Academic Article Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta.
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 Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations.
Academic Article Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation.
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 Consecutive mutational events in a TSHR allele of Arab families with resistance to thyroid stimulating hormone.
Academic Article Homozygous thyroid hormone receptor ß-gene mutations in resistance to thyroid hormone: three new cases and review of the literature.
Academic Article Resistance to thyroid hormone: one of several defects causing reduced sensitivity to thyroid hormone.
Academic Article Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis.
Academic Article Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11 July 1993, Cambridge, UK.
Academic Article The syndromes of resistance to thyroid hormone.
Academic Article Dominant negative transcriptional regulation by a mutant thyroid hormone receptor-beta in a family with generalized resistance to thyroid hormone.
Academic Article A novel thyroid hormone receptor-beta mutation that fails to bind nuclear receptor corepressor in a patient as an apparent cause of severe, predominantly pituitary resistance to thyroid hormone.
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 Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.
Academic Article Gene screening in Japanese families with complete deficiency of thyroxine-binding globulin demonstrates that a nucleotide deletion at codon 352 may be a race specific mutation.
Academic Article A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone.
Academic Article TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature.
Academic Article Low intelligence but not attention deficit hyperactivity disorder is associated with resistance to thyroid hormone caused by mutation R316H in the thyroid hormone receptor beta gene.
Academic Article How clinical observations of a congenital disease can be translated in terms of molecular biology.
Academic Article Mutations of CpG dinucleotides located in the triiodothyronine (T3)-binding domain of the thyroid hormone receptor (TR) beta gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical phenotype of resistance to thyroid hormone.
Academic Article Nomenclature of thyroid hormone receptor-beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11th July 1993, Cambridge, UK.
Academic Article Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene.
Academic Article Nomenclature of thyroid hormone receptor beta-gene mutations in resistance to thyroid hormone: consensus statement from the first workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, United Kingdom.
Academic Article Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene.
Academic Article An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families.
Academic Article Resistance to thyroid hormone and its molecular basis.
Academic Article A somatic gain-of-function mutation in the thyrotropin receptor gene producing a toxic adenoma in an infant.
Academic Article White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene.
Academic Article Approach to the patient with resistance to thyroid hormone and pregnancy.
Academic Article Functional characteristics of a variant thyrotropin receptor.
Academic Article Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constitutively activating mutation of the luteinizing hormone receptor--a clinical research center study.
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 Mutation in the thyroid hormone receptor beta gene (A317T) in a Thai subject with resistance to thyroid hormone.
Academic Article Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the thyroid hormone receptor beta gene resulting in the replacement of the normal proline 453 with serine.
Academic Article Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the first workshop on thyroid hormone resistance, July 10-11th 1993, Cambridge, U.K.
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 Complete deficiency of thyroxine-binding globulin (TBG-CD Buffalo) caused by a new nonsense mutation in the thyroxine-binding globulin gene.
Academic Article Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect.
Academic Article A novel point mutation in cluster 3 of the thyroid hormone receptor beta gene (P247L) causing mild resistance to thyroid hormone.
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 Resistance to thyroid hormone.
Academic Article Resistance to thyroid hormone associated with autoimmune thyroid disease in a Turkish family.
Academic Article Repulsive separation of the cytoplasmic ends of transmembrane helices 3 and 6 is linked to receptor activation in a novel thyrotropin receptor mutant (M626I).
Academic Article Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice.
Academic Article A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2+ cascade mediates TSH action on thyroid hormone synthesis.
Academic Article A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay.
Academic Article Thyroid hormone receptor beta gene mutation (P453A) in a family producing resistance to thyroid hormone.
Academic Article Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
Academic Article Small-molecule MAPK inhibitors restore radioiodine incorporation in mouse thyroid cancers with conditional BRAF activation.
Academic Article Study of four new kindreds with inherited thyroxine-binding globulin abnormalities. Possible mutations of a single gene locus.
Academic Article Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-beta receptors?
Academic Article Studies on the repression of basal transcription (silencing) by artificial and natural human thyroid hormone receptor-beta mutants.
Academic Article Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone. First workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, U.K.
Academic Article The syndromes of reduced sensitivity to thyroid hormone.
Academic Article A clinically euthyroid child with a large goiter due to a thyroglobulin gene defect: clinical features and genetic studies.
Academic Article Coexistence of THRB and TBG gene mutations in a Turkish family.
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 A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer.
Academic Article Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination.
Academic Article Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease.
Academic Article Long-term outcome of loss-of-function mutations in thyrotropin receptor gene.
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 A TSHß Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications.
Academic Article Inherited defects of thyroxine-binding proteins.
Academic Article A Novel Thyroid Hormone Receptor Beta Gene Mutation (G251V) in a Thai Patient with Resistance to Thyroid Hormone Coexisting with Pituitary Incidentaloma.
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 A new TRß mutation in resistance to thyroid hormone syndrome.
Academic Article Resistance to thyrotropin.
Academic Article Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families.
Academic Article 13th International Workshop on Resistance to Thyroid Hormone and Thyroid Hormone Action.
Academic Article A Novel Mutation in the TBG Gene Producing Partial Thyroxine-Binding Globulin Deficiency (Glencoe) Identified in 2 Families.
Academic Article Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome.
Academic Article Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHß).
Academic Article A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report.
Academic Article Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests.
Academic Article Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications.
Academic Article Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.
Academic Article Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line.
Academic Article Clinical recognition and evaluation of patients with inherited serum thyroid hormone-binding protein mutations.
Academic Article Very Severe Resistance to Thyroid Hormone ß in One of Three Affected Members of a Family with a Novel Mutation in the THRB Gene.
Academic Article Free Thyroxine Concentrations in Sera of Individuals with Familial Dysalbuminemic Hyperthyroxinemia: A Comparison of Three Methods of Measurement.
Academic Article Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants.
Academic Article Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism.
Academic Article Nonautoimmune Hyperthyroidism Caused by a Somatic Mosaic GNAS Mutation Involving Part of the Thyroid Gland.
Academic Article Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHß.
Academic Article Intranasal delivery of Thyroid hormones in MCT8 deficiency.
Academic Article Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism.
Academic Article Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation.
Academic Article Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor a Gene (pC380SfsX9) Mutation.
Academic Article SWI/SNF Complex Mutations Promote Thyroid Tumor Progression and Insensitivity to Redifferentiation Therapies.
Academic Article Increased Hepatic Fat Content in Patients with Resistance to Thyroid Hormone Beta.
Academic Article Resistance to Thyroid Hormone Beta: A Focused Review.
Academic Article Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency.
Academic Article Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism.
Academic Article Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis.
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 Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C).
Grant 3RD INTERNATL WORKSHOP ON RESISTANCE TO THYROID HORMONE
Grant THYROID PHYSIOLOGY STUDIES OF INHERITED DISORDERS
Grant Thyroid Physiology Studies of Inherited Disorders
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