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Best Practice & Research Clinical Endocrinology & Metabolism
Volume 21, Issue 2
, Pages 277-305
, June 2007
Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination
References
- . Familial syndrome combining deaf-mutism, stippled epiphyses, goiter, and abnormally high PBI: possible target organ refractoriness to thyroid hormone. The Journal of Clinical Endocrinology and Metabolism. 1967;27:279–294
- Studies of a sibship with apparent hereditary resistance to the intracellular action of thyroid hormone. Metabolism. 1972;21:723–756
- Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor b. Proceedings of the National Academy of Sciences of the United States of America. 1989;86:8977–8981
- A base mutation of the c-erbAb thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds. The Journal of Clinical Investigation. 1990;85:93–100
- . The syndromes of resistance to thyroid hormone. Endocrine Reviews. 1993;14:348–399
- A Novel Syndrome Combining Thyroid and Neurological Abnormalities Is Associated with Mutations in a Monocarboxylate Transporter Gene. American Journal of Human Genetics. 2004;74:168–175
- Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet. 2004;364:1435–1437
- Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nature Genetics. 2005;37:1247–1252
- Thyroid hormone transporters. Vitamins and Hormones. 2005;70:137–167
- Biochemistry, cellular and molecular biology, and physiological roles of the iodothyronine selenodeiodinases. Endocrine Reviews. 2002;23:38–89
- . Mechanisms of thyroid hormone receptor-specific nuclear and extra nuclear actions. Molecular and Cellular Endocrinology. 2003;213:1–11
- . The mechanism of action of thyroid hormones. Annual Review of Physiology. 2000;62:439–466
- Thyroid hormone action at the cellular, genomic and target gene levels. Molecular and Cellular Endocrinology. 2006;246:121–127
- Tissue specific thyroid hormone deprivation and excess in Mct8 deficient mice. Endocrinology. 2006;4036–4043
- Thyroid hormone receptor-associated proteins and general positive cofactors mediate thyroid hormone receptor function in the absence of the TATA box-binding protein-associated factors of TFIID. Proceedings of the National Academy of Sciences of the United States of America. 1999;96:1959–1964
- . The variable clinical phenotype in thyroid hormone resistance syndrome. Thyroid. 1994;4:225–232
- . 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. The Journal of Clinical Investigation. 1993;91:2408–2415
- Multiple genetic factors in the heterogeneity of thyroid hormone resistance. The Journal of Clinical Endocrinology and Metabolism. 1993;76:257–259
- Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone. The Journal of Clinical Investigation. 1993;91:2296–2300
- 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. The Journal of Clinical Endocrinology and Metabolism. 1993;76:64–69
- Resistnace to thyroid hormone in the absence of mutations in the thyroid hormone receptor genes. Current Opinion in Endocrinology and Diabetes. 2000;7:253–259
- Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptors a or ß genes may be due to a defective co-factor. The Journal of Clinical Endocrinology and Metabolism. 1996;81:4196–4203
- Follow-up of newborns with elevated screening T4 concentrations. The Journal of Pediatrics. 2003;143:296–301
- Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-ß gene. JThe Journal of Clinical Endocrinology and Metabolism. 1992;74:49–55
- . Alternative splicing generates messages encoding rat c-erbA proteins that do not bind thyroid hormones. Proceedings of the National Academy of Sciences of the United States of America. 1988;85:5804–5805
- Increased sensitivity to thyroid hormone in mice with complete deficiency of thyroid hormone receptor alpha. Proceedings of the National Academy of Sciences of the United States of America. 2001;98:349–354
- Identification of transcripts initiated from an internal promoter in the c-erb-Aa locus that encode inhibitors of retinoic acid receptor-a and triiodothyronine receptor activities. Molecular Endocrinology (Baltimore, Md.). 1997;11:1278–1290
- . Cloning and characterization of two novel thyroid hormone receptor beta isoforms. Molecular and Cellular Biology. 2000;20:8329–8342
- Genetic analysis reveals different functions for the products of the thyroid hormone receptor alpha locus. Molecular and Cellular Biology. 2001;21:4748–4760
- Different functions for the thyroid hormone receptors TRα and TRβ in the control of thyroid hormone production and post-natal development. The Embo Journal. 1999;18:623–631
- Mice devoid of all known thyroid hormone receptors are viable but exhibit disorders of the pituitary-thyroid axis, growth, and bone maturation. Genes & Development. 1999;13:1329–1341
- Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone: identification of thirteen novel mutations in the thyroid hormone receptor ß gene. The Journal of Clinical Investigation. 1994;94:506–515
- A role for helix 3 of the TRß ligand-binding domain in coactivator recruitment identified by characterization of a third cluster of mutations in resistance to thyroid hormone. The Embo Journal. 1998;17:4760–4770
- Hormone-dependent coactivator binding to a hydrophobic cleft on nuclear receptors. Science. 1998;280:1747–1749
- . A transcriptional co-repressor that interacts with nuclear hormone receptors. Nature. 1995;377:454–457
- Ligand-independent repression by the thyroid hormone receptor mediated by a nuclear receptor co-repressor. Nature. 1995;377:397–404
- At least three subdomains of v-erbA are involved in its silencing function. Molecular Endocrinology (Baltimore, Md.). 1997;11:379–389
- . Interactions among a subfamily of nuclear hormone receptors: the regulatory zipper model. Molecular Endocrinology (Baltimore, Md.). 1990;4:1293–1301
- Differential orientations of the DNA-binding domain and carboxy-terminal dimerization interface regulate binding site selection by nuclear receptor heterodimers. Genes & Development. 1993;7:1423–1435
- The conserved ninth C-terminal heptad in thyroid hormone and retinoic acid receptors mediates diverse responses by affecting heterodimer but not homodimer formation. Molecular and Cellular Endocrinology. 1993;13:5725–5737
- Nomenclature of thyroid hormone receptor ß-gene mutations in resistance to thyroid hormone: Consensus statement from the first workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, United Kingdom. The Journal of Clinical Endocrinology and Metabolism. 1993;78:990–993
- Functional analysis of a transactivation domain in the thyroid hormone ß receptor. The Journal of Biological Chemistry. 1994;269:31157–31161
- The t4 activation domain of the thyroid hormone receptor is required for release of a putative corepressor(s) necessary for transcriptional silencing. Molecular and Cellular Biology. 1995;15:76–86
- . Comparison between synthetic nuclear localisation signal peptides from the steroid thyroid hormone receptor superfamily. Biochemical and Biophysical Research Communications. 1992;183:289–293
- A canonical strusture for the ligand-binding domain of the nuclear receptors. Nature Structural Biology. 1996;3:87–94
- Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-ß receptors?. The Journal of Clinical Endocrinology and Metabolism. 1995;80:3246–3256
- . Thyroid hormone resistance syndrome manifests as an aberrant interaction between mutant T3 receptor and transcriptional corepressor. Molecular Endocrinology (Baltimore, Md.). 1997;11:470–480
- The androgen receptor gene mutations database. Nucleic Acids Research. 1998;26:234–238
- Somatic mutation of TRbeta can cause a defect in negative regulation of TSH in a TSH-secreting pituitary tumor. The Journal of Clinical Endocrinology and Metabolism. 2001;86:5572–5576
- Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. The National Institutes of Health prospective study. Annals of Internal Medicine. 1995;123:573–583
- Homozygosity for a ‘dominant negative’ thyroid hormone receptor gene responsible for generalized resistance to thyroid hormone. The Journal of Clinical Endocrinology and Metabolism. 1991;73:990–994
- Evidence for secretion of thyrotropin with enhanced bioactivity in syndromes of thyroid hormone resistance. The Journal of Clinical Endocrinology and Metabolism. 1994;78:1034–1039
- . Mutations of CpG dinucleotides located in the triiodothyronine (T3)-binding domain of the thyroid hormone receptor (TR) ß 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. The Journal of Clinical Investigation. 1994;94:607–615
- Resistance to thyroid hormone caused by two mutant thyroid hormone receptor ß, R243Q and R243 W, with marked impairment of function that cannot be explained by altered in-vitro 3,5,3'-triiodothyronine binding affinity. The Journal of Clinical Endocrinology and Metabolism. 1997;82:1608–1614
- Defective release of corepressor by hinge mutants of the thyroid hormone receptor found in patients with resistance to thyroid hormone. The Journal of Biological Chemistry. 1998;273:30175–30182
- A novel mutation (R383H) in resistance to thyroid hormone syndrome predominantly impairs corepressor release and negative transcriptional regulation. Molecular Endocrinology (Baltimore, Md.). 1998;12:609–621
- Regulation of retinoid signaling by receptor polarity and allosteric control of ligand binding. Nature. 1994;371:528–531
- . Thyroid hormone receptors: lessons from knockout and knock-in mutant mice. Trends in Endocrinology and Metabolism. 2003;14:85–90
- The thyroid hormone receptor beta gene: structure and functions in the brain and sensory systems. Thyroid. 2003;13:1057–1068
- . Mice with a mutation in the thyroid hormone receptor Beta gene spontaneously develop thyroid carcinoma: a mouse model of thyroid carcinogenesis. Thyroid. 2002;12:963–969
- A targeted dominant negative mutation of the thyroid hormone alpha 1 receptor causes increased mortality, infertility, and dwarfism in mice. Proceedings of the National Academy of Sciences of the United States of America. 2001;98:15095–15100
- Retardation of post-natal development caused by a negatively acting thyroid hormone receptor alpha1. The Embo Journal. 2002;21:5079–5087
- . A thyroid hormone receptor alpha gene mutation (P398H) Is associated with visceral adiposity and impaired catecholamine-stimulated lipolysis in mice. The Journal of Biological Chemistry. 2003;278:38913–38920
- Congenital Hypothyroid Pax8(-/-) Mutant Mice Can Be Rescued by Inactivating the TRalpha Gene. Molecular Endocrinology (Baltimore, Md.). 2002;16:24–32
- Deletion of the thyroid hormone receptor alpha 1 prevents the structural alterations of the cerebellum induced by hypothyroidism. Proceedings of the National Academy of Sciences of the United States of America. 2002;99:3985–3989
- Mice deficient in the steroid receptor coactivator-1 (SRC-1) are resistant to thyroid hormone. The Embo Journal. 1999;18:1900–1904
- Thyroid hormone resistance and increased metabolic rate in the RXR-g-deficient mouse. The Journal of Clinical Investigation. 2000;106:73–79
- 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. The Journal of Clinical Endocrinology and Metabolism. 2006;91:1887–1895
- Fetal loss associated with excess thyroid hormone exposure. The Journal of the American Medical Association. 2004;292:691–695
- . Editorial: treatment of resistance to thyroid hormone-primum non nocere. The Journal of Clinical Endocrinology and Metabolism. 1999;84:401–404
- . Regression of a large goiter in a patient with resistance to thyroid hormone by every other day treatment with triiodothyronine. Thyroid. 2004;14:71–74
- . The free hormone hypothesis and measurement of free hormones. Clinical Chemistry. 1992;38:1289–1293
- Plasma membrane transport of thyroid hormones and its role in thyroid hormone metabolism and bioavailability. Endocrine Reviews. 2001;22:451–476
- . Some examples of the inheritance of mental deficiency: apparently sex-linked idiocy and microcephaly. American Journal of Mental Deficiency. 1944;48:325–334
- Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21. American Journal of Human Genetics. 1990;47:454–458
- Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene. American Journal of Human Genetics. 2005;77:41–53
- . A novel transmembrane transporter encoded by the XPCT gene in Xq13.2. Human Molecular Genetics. 1994;3:1133–1139
- . The SLC16 gene family-from monocarboxylate transporters (MCTs) to aromatic amino acid transporters and beyond. Pflugers Archiv. 2004;447:619–628
- Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter. The Journal of Biological Chemistry. 2003;
- . A novel mutation in the monocarboxylate transporter 8 gene in a boy with putamen lesions and low free T4 levels in cerebrospinal fluid. The Journal of Pediatrics. 2005;147:552–554
- Mechanisms of disease: psychomotor retardation and high T3 levels caused by mutations in monocarboxylate transporter 8. Nature Clinical Practice. Endocrinology & Metabolism. 2006;2:512–523
- X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene. Journal of Neurology. 2005;252:663–666
- Unexpected peripheral markers of thyroid function in a patient with a novel mutation of the MCT8 thyroid hormone transporter gene. Hormone Research. 2006;67:1–6
- Decreased cellular T3 uptake and metabolism in Allan-Herndon-Dudley syndrome(AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. Journal of Medical Genetics. 2006;43:457–460
- X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype. Journal of Child Neurology. 2005;20:852–857
- On the mechanism producing the unusual thyroid phenotype in defects of the MCT8 gene. Thyroid. 2004;14:761;(abstract)
- Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8. The Journal of Clinical Investigationt. 2007;117:627–635
- . Role of monocarboxylate anion transporter 8 (MCT8) in thyroid hormone transport: answers from mice. Endocrinology. 2006;147:4034–4035
- . Regulation of type 1 iodothyronine deiodinase in health and disease. Thyroid. 2005;15:835–840
- cDNA cloning, expression pattern and RNA binding analysis of human selenocysteine insertion sequence (SECIS) binding protein 2. Gene. 2002;291:279–285
- . Regulation of gene expression by stop codon recoding: selenocysteine. Gene. 2003;312:17–25
- . Selenium and the control of thyroid hormone metabolism. Thyroid. 2005;15:841–853
- Targeted Disruption of the Type 2 Selenodeiodinase Gene (DIO2) Results in a Phenotype of Pituitary Resistance to T(4). Molecular Endocrinology (Baltimore, Md.). 2001;15:2137–2148
- Early embryonic lethality caused by targeted disruption of the mouse selenocysteine tRNA gene (Trsp). Proceedings of the National Academy of Sciences of the United States of America. 1997;94:5531–5534
- Targeted disruption of the type 1 selenodeiodinase gene (dio1) results in marked changes in thyroid hormone economy in mice. Endocrinology. 2006;147:580–589
- Type 3 deiodinase is critical for the maturation and function of the thyroid axis. The Journal of clinical investigation. 2006;116:476–484
- Structural and functional differences in the dio1 gene in mice with inherited type 1 deiodinase deficiency. Molecular Endocrinology (Baltimore, Md.). 1995;9:969–980
- Hearing loss and retarded cochlear development in mice lacking type 2 iodothyronine deiodinase. Proceedings of the National Academy of Sciences of the United States of America. 2004;101:3474–3479
- Selective rescue of selenoprotein expression in mice lacking a highly specialized methyl group in selenocysteine tRNA. The Journal of Biological Chemistry. 2005;280:5542–5548
- Bacteria-induced intestinal cancer in mice with disrupted Gpx1 and Gpx2 genes. Cancer Research. 2004;64:962–968
PII: S1521-690X(07)00026-7
doi: 10.1016/j.beem.2007.03.005
© 2007 Elsevier Ltd. All rights reserved.
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Best Practice & Research Clinical Endocrinology & Metabolism
Volume 21, Issue 2
, Pages 277-305
, June 2007
