| scholarly article | Q13442814 |
| P356 | DOI | 10.1172/JCI116474 |
| P8608 | Fatcat ID | release_mhdcbz5bdja57oqgxtt5ru6qse |
| P932 | PMC publication ID | 443299 |
| P698 | PubMed publication ID | 8514853 |
| P5875 | ResearchGate publication ID | 14684172 |
| P50 | author | Samuel Refetoff | Q92578753 |
| P2093 | author name string | S Refetoff | |
| M Weinberg | |||
| R E Weiss | |||
| P2860 | cites work | DNA sequencing with chain-terminating inhibitors | Q22066207 |
| RXR beta: a coregulator that enhances binding of retinoic acid, thyroid hormone, and vitamin D receptors to their cognate response elements | Q24318447 | ||
| Thyroid hormone receptor mutants that cause resistance to thyroid hormone. Evidence for receptor competition for DNA sequences in target genes | Q24336959 | ||
| Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta | Q24603164 | ||
| A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds | Q24624938 | ||
| Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two "hot spot" regions of the ligand binding domain | Q24629530 | ||
| Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase | Q26778389 | ||
| An arginine to histidine mutation in codon 315 of the c-erbA beta thyroid hormone receptor in a kindred with generalized resistance to thyroid hormones results in a receptor with significant 3,5,3'-triiodothyronine binding activity | Q28209999 | ||
| A point mutation (Ala229 to Thr) in the hinge domain of the c-erbA beta thyroid hormone receptor gene in a family with generalized thyroid hormone resistance | Q28211669 | ||
| A point mutation of the T3 receptor beta 1 gene in a kindred of generalized resistance to thyroid hormone | Q28248640 | ||
| Structural analysis of human thyroid hormone receptor beta gene | Q28257896 | ||
| A point mutation in the 3,5,3'-triiodothyronine-binding domain of thyroid hormone receptor-beta associated with a family with generalized resistance to thyroid hormone | Q28274422 | ||
| A New Point Mutation in the 3,5,3′-Triiodothyronine-Binding Domain of the c-erbAβThyroid Hormone Receptor Is Tightly Linked to Generalized Thyroid Hormone Resistance | Q28279150 | ||
| Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome | Q28301008 | ||
| A homozygous deletion in the c-erbA beta thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: isolation and characterization of the mutant receptor | Q28302131 | ||
| Polymorphic DNA region adjacent to the 5' end of the human insulin gene | Q29618325 | ||
| Retinoid X receptor is an auxiliary protein for thyroid hormone and retinoic acid receptors | Q31159950 | ||
| Molecular basis of base substitution hotspots in Escherichia coli | Q34183770 | ||
| 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 | Q34236575 | ||
| New insights on the mechanism(s) of the dominant negative effect of mutant thyroid hormone receptor in generalized resistance to thyroid hormone. | Q35608411 | ||
| Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene | Q35609419 | ||
| Regulation of gene expression by thyroid hormone | Q35810523 | ||
| Triiodothyronine radioimmunoassay | Q35897100 | ||
| Thyroid hormone resistance. | Q36086927 | ||
| Ligand-binding and heterodimerization activities of a conserved region in the ligand-binding domain of the thyroid hormone receptor | Q37598842 | ||
| The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions | Q37935123 | ||
| 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 | Q38322860 | ||
| Substitution of aspartic acid-686 by histidine or asparagine in the human androgen receptor leads to a functionally inactive protein with altered hormone-binding characteristics | Q38333137 | ||
| Single base mutation in the hormone binding domain of the thyroid hormone receptor beta gene in generalised thyroid hormone resistance demonstrated by single stranded conformation polymorphism analysis. | Q38334181 | ||
| Triiodothyronine: Review of recent studies of its physiology and pathophysiology in man | Q39956291 | ||
| Thyroid hormone resistance syndrome. Inhibition of normal receptor function by mutant thyroid hormone receptors | Q40348625 | ||
| Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG. | Q40574724 | ||
| A domain containing leucine-zipper-like motifs mediate novel in vivo interactions between the thyroid hormone and retinoic acid receptors | Q41274369 | ||
| Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbA beta gene | Q41348118 | ||
| 3,5,3'-triiodothyronine (T3) receptor-auxiliary protein (TRAP) binds DNA and forms heterodimers with the T3 receptor | Q41703993 | ||
| Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity | Q41713307 | ||
| Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: rapid detection by a modified denaturing gradient gel electrophoresis technique | Q44240258 | ||
| Thyroid hormone resistance in a large kindred: physiologic, biochemical, pharmacologic, and neuropsychologic studies. | Q54236309 | ||
| Correlations of language abnormalities with localization of mutations in the beta-thyroid hormone receptor in 13 kindreds with generalized resistance to thyroid hormone: identification of four new mutations | Q54261174 | ||
| Generalized thyroid hormone resistance: identification of an arginine to cystine mutation in codon 315 of the c-erb A beta thyroid hormone receptor. | Q54263671 | ||
| A single amino acid substitution (Met786----Val) in the steroid-binding domain of human androgen receptor leads to complete androgen insensitivity syndrome. | Q54270869 | ||
| Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance | Q54272963 | ||
| Variable transcriptional activity and ligand binding of mutant beta 1 3,5,3'-triiodothyronine receptors from four families with generalized resistance to thyroid hormone. | Q54276254 | ||
| Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene | Q54278071 | ||
| Resistance to thyroid hormone diagnosed by the reduced response of fibroblasts to the triiodothyronine-induced suppression of fibronectin synthesis. | Q54402417 | ||
| Hormonal regulation of glycosaminoglycan accumulation in fibroblasts from patients with resistance to thyroid hormone. | Q54486594 | ||
| Peripheral resistance to thyroid hormone in an infant. | Q54529264 | ||
| Serum tests for measurement of thyroid function | Q67264541 | ||
| Sex hormone-binding globulin in the diagnosis of peripheral tissue resistance to thyroid hormone: the value of changes after short term triiodothyronine administration | Q68275702 | ||
| Inappropriate secretion of thyroid-stimulating hormone | Q70173934 | ||
| Non-adenomatous inappropriate TSH hypersecretion and euthyroidism requires no treatment | Q70376918 | ||
| Peripheral resistance to thyroid hormone in a family: heterogeneity of clinical presentation | Q70442014 | ||
| Restriction sites containing CpG show a higher frequency of polymorphism in human DNA | Q72722161 | ||
| Syndromes of thyroid hormone resistance | Q72948360 | ||
| P433 | issue | 6 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | cytosine | Q178425 |
| P304 | page(s) | 2408-2415 | |
| P577 | publication date | 1993-06-01 | |
| P1433 | published in | Journal of Clinical Investigation | Q3186904 |
| P1476 | title | 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 | |
| P478 | volume | 91 |
| Q92580064 | A Rare Case of Partial Peripheral Thyroid Hormone Resistance Due to a Point Mutation in the Membrane Integrin Α(V)Β(3) and Concomitant Hashimoto`s Thyroiditis |
| Q44963155 | A novel splice variant involving the 5' untranslated region of thyroid hormone receptor beta1 (TRbeta1). |
| Q24624754 | Approach to the patient with resistance to thyroid hormone and pregnancy |
| Q54228911 | Attention-deficit hyperactivity disorder and thyroid function. |
| Q41611386 | BRAFV600E mutation contributes papillary thyroid carcinoma and Hashimoto thyroiditis with resistance to thyroid hormone: A case report and literature review |
| Q36437421 | Cell type-dependent modulation of the dominant negative action of human mutant thyroid hormone beta 1 receptors |
| Q42477866 | Characteristics of patients with late manifestation of resistance thyroid hormone syndrome: a single-center experience |
| Q24564737 | Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site |
| Q41450096 | Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor α1 Mutant Proteins |
| Q38119993 | Different causes of reduced sensitivity to thyroid hormone: diagnosis and clinical management |
| Q41175270 | Effect of thyroid hormone on growth. Lessons from the syndrome of resistance to thyroid hormone |
| Q34228513 | Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene |
| Q36549937 | Genetic dissection of thyroid hormone receptor beta: identification of mutations that separate hormone binding and transcriptional activation |
| Q40707718 | Hormone-nuclear receptor interactions in health and disease. Thyroid hormone resistance |
| Q43577801 | In vitro effect of Triac on resistance to thyroid hormone receptor mutants: potential basis for therapy |
| Q37403884 | Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease |
| Q38305730 | 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 ph |
| Q40634903 | 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. |
| Q37375007 | Not all elevated hormones are toxic: A case of thyroid hormone resistance |
| Q36943151 | One Novel and Two Recurrent THRB Mutations Associated with Resistance to Thyroid Hormone: Structure-based Computational Mutation Prediction |
| Q33676611 | Phenotypic variability in patients with generalised resistance to thyroid hormone |
| Q53766438 | Resistance to Thyroid Hormone - A Novel Mutation in THRβ-Gene from India. |
| Q34435743 | Resistance to thyroid hormone |
| Q72561670 | Resistance to thyroid hormone |
| Q44214501 | Resistance to thyroid hormone associated with autoimmune thyroid disease in a Turkish family |
| Q39812091 | Resistance to thyroid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia |
| Q44599151 | Successful therapy with L-T4 in a 5 year-old boy with generalized thyroid hormone resistance |
| Q33851820 | Syndromes associated with Homo sapiens pol II regulatory genes |
| Q61453323 | The Mutant Thyroid Hormone Receptor Beta R320P Causes Syndrome of Resistance to Thyroid Hormone |
| Q28279647 | The genomic structure and chromosomal location of the human TR2 orphan receptor, a member of the steroid receptor superfamily |
| Q27006848 | The syndromes of reduced sensitivity to thyroid hormone |
| Q89620693 | Thyroid Hormone Hyposensitivity: From Genotype to Phenotype and Back |
| Q38981018 | Thyroid hormone resistance and its management. |
| Q64040199 | Thyroid hormone resistance and the value of genetics: Three case reports |
| Q34378604 | Thyroid hormone resistance syndrome |
| Q37726676 | Thyroid hormone resistance syndrome caused by heterozygous A317T mutation in thyroid hormone receptor β gene: Report of one Chinese pedigree and review of the literature |
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