Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Editor

Personal info

View

About

Terms

Javascript disabled

Please enable Javascript support in your browser to use this application.

Instructions on how to enable JavaScript on different browsers can be found here: http://www.google.com/support/bin/answer.py?answer=23852.

[edit this page]

MeSH Review:

Thyroid Hormone Resistance Syndrome

Usala, S.J. et al., Adams, M. et al., Forman, B.M. et al., Jannini, E.A. et al., Parrilla, R. et al., et al.

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Thyroid Hormone Resistance Syndrome

Five patients with generalized thyroid hormone resistance and two patients with thyrotropin secreting pituitary tumor were also studied [1].
OBJECTIVE: To review the condition of generalized resistance to thyroid hormone and to report a case of generalized thyroid hormone resistance associated with atrial fibrillation [2].

High impact information on Thyroid Hormone Resistance Syndrome

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 [3].
Generalized thyroid hormone resistance (GTHR) is a disorder of thyroid hormone action that we have previously shown to be tightly linked to one of the two thyroid hormone receptor genes, c-erbA beta, in a single kindred, A [4].
Mutations in the gene encoding the human thyroid hormone receptor beta (hTR beta) have been associated with generalized thyroid hormone resistance (GTHR) [5].
The expression of THR beta is correlated with the presence of high affinity binding sites for TH, and all the mutations which cause the syndrome of generalized thyroid hormone resistance occur in THR beta [6].
The G----A nucleotide substitution was not present in 80 random TR beta alleles, suggesting that this point mutation is responsible for generalized thyroid hormone resistance in family T [7].

Chemical compound and disease context of Thyroid Hormone Resistance Syndrome

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 [4].
Dextrothyroxine in the treatment of generalized thyroid hormone resistance in a boy homozygous for a defect in the T3 receptor [8].
CONCLUSIONS: We report a second type of mutation (Gly to Ser) in codon 340 of hTR beta in a family with generalized thyroid hormone resistance [9].
Generalized thyroid hormone resistance: identification of an arginine to cystine mutation in codon 315 of the c-erb A beta thyroid hormone receptor [10].

Biological context of Thyroid Hormone Resistance Syndrome

Dimer formation suggests a mechanism to account for the dominant-negative phenotypes displayed by nonhormone binding variants of c-erbA, the proto-oncoprotein v-erbA and patients with the generalized thyroid hormone resistance syndrome [11].
The mutation of L-F3 occurred in the dimerization domain of exon 9, a region where the majority of mutations of kindreds with generalized thyroid hormone resistance have been found [12].

Anatomical context of Thyroid Hormone Resistance Syndrome

It is important to rule out generalized thyroid hormone resistance before use of antithyroid drugs or thyroid surgery in patients suspected of this disorder [13].
The results led to the diagnosis of generalized thyroid hormone resistance including the pituitary gland [14].

Gene context of Thyroid Hormone Resistance Syndrome

OBJECTIVE: We wished to ascertain whether a mutation in the thyroid hormone receptor beta gene was present in a family with generalized thyroid hormone resistance syndrome and to characterize the functional properties of this mutant receptor [9].
Generalized thyroid hormone resistance due to a deletion of the carboxy terminus of the c-erbA beta receptor [15].

References

Urinary cortisol metabolites in the assessment of peripheral thyroid hormone action: application for diagnosis of resistance to thyroid hormone. Taniyama, M., Honma, K., Ban, Y. Thyroid (1993) [Pubmed]
Generalized resistance to thyroid hormone associated with possible selective cardiac nonresistance. Dizon, M.N., Henry, A.D., Beeson, M., Vesely, D.L. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists. (2000) [Pubmed]
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. Parrilla, R., Mixson, A.J., McPherson, J.A., McClaskey, J.H., Weintraub, B.D. J. Clin. Invest. (1991) [Pubmed]
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. Usala, S.J., Tennyson, G.E., Bale, A.E., Lash, R.W., Gesundheit, N., Wondisford, F.E., Accili, D., Hauser, P., Weintraub, B.D. J. Clin. Invest. (1990) [Pubmed]
Kindred S thyroid hormone receptor is an active and constitutive silencer and a repressor for thyroid hormone and retinoic acid responses. Baniahmad, A., Tsai, S.Y., O'Malley, B.W., Tsai, M.J. Proc. Natl. Acad. Sci. U.S.A. (1992) [Pubmed]
Developmental regulation of the thyroid hormone receptor alpha 1 mRNA expression in the rat testis. Jannini, E.A., Dolci, S., Ulisse, S., Nikodem, V.M. Mol. Endocrinol. (1994) [Pubmed]
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. Behr, M., Loos, U. Mol. Endocrinol. (1992) [Pubmed]
Dextrothyroxine in the treatment of generalized thyroid hormone resistance in a boy homozygous for a defect in the T3 receptor. Schwartz, I.D., Bercu, B.B. Thyroid (1992) [Pubmed]
Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome. Adams, M., Nagaya, T., Tone, Y., Jameson, J.L., Chatterjee, V.K. Clin. Endocrinol. (Oxf) (1992) [Pubmed]
Generalized thyroid hormone resistance: identification of an arginine to cystine mutation in codon 315 of the c-erb A beta thyroid hormone receptor. Burman, K.D., Djuh, Y.Y., Nicholson, D., Rhooms, P., Wartofsky, L., Fein, H.G., Usala, S.J., Hao, E.H., Bradley, W.E., Berard, J. J. Endocrinol. Invest. (1992) [Pubmed]
A domain containing leucine-zipper-like motifs mediate novel in vivo interactions between the thyroid hormone and retinoic acid receptors. Forman, B.M., Yang, C.R., Au, M., Casanova, J., Ghysdael, J., Samuels, H.H. Mol. Endocrinol. (1989) [Pubmed]
Identification of a novel mutation in the gene encoding the beta-triiodothyronine receptor in a patient with apparent selective pituitary resistance to thyroid hormone. Mixson, A.J., Renault, J.C., Ransom, S., Bodenner, D.L., Weintraub, B.D. Clin. Endocrinol. (Oxf) (1993) [Pubmed]
Central hypothyroidism and hyperthyroidism. Emerson, C.H. Med. Clin. North Am. (1985) [Pubmed]
Resistance of peripheral tissues and pituitary to thyroid hormone. Takamatsu, J., Miki, K., Isaji, H., Kitazawa, A., Furukawa, K., Fujiwara, M., Kuma, K., Mozai, T. Endocrinol. Jpn. (1984) [Pubmed]
Generalized thyroid hormone resistance due to a deletion of the carboxy terminus of the c-erbA beta receptor. Groenhout, E.G., Dorin, R.I. Mol. Cell. Endocrinol. (1994) [Pubmed]

Contributions to this collaborative article are from individual authors of WikiGenes or mined by the WikiGenes Data Mining Engine from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenes Open Access Licence Privacy Policy Terms of Use apsburg

The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.