Výsledky vyhledávání

Prothrombin Greenville, Arg517→Gln, Identified in an Individual Heterozygous for Dysprothrombinemia

Autor: J B Menke, Lance D. Miller, Charles Knupp, J.T. Casey, R.A. Henriksen, Stephen J. Usala, C.K. Dunham

Publikováno v: Blood. 91:2026-2031

A 64-year-old white male was referred for evaluation of prolonged prothrombin time (PT) and activated partial thromboplastin time (aPTT) obtained before elective surgery with initial PT and PTT results of 14.9 and 38.4 seconds, respectively, which co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ff9eacccbb51a1317ae9b1ba11fa2782
https://doi.org/10.1182/blood.v91.6.2026

Zobrazit plný text záznamu

A novel C-terminal domain in the thyroid hormone receptor selectively mediates thyroid hormone inhibition

Autor: J B Menke, Stephen J. Usala, S Tollin, Ohad Cohen, Fredric E. Wondisford, Timothy R. Flynn, M K Hegarty, Anthony N. Hollenberg

Publikováno v: Journal of Biological Chemistry. 269:32713-32716

Resistance to thyroid hormone (RTH) action is due to mutations in the beta-isoform of the thyroid hormone receptor (TR-beta). RTH patients display inappropriate central secretion of thyrotropin-releasing hormone (TRH) from the hypothalamus and thyrot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e39c2cc0a24f11b3186bd2bfc43db7e2
https://doi.org/10.1016/s0021-9258(20)30048-x

Zobrazit plný text záznamu

Divergent dimerization properties of mutant beta 1 thyroid hormone receptors are associated with different dominant negative activities

Autor: J B Menke, C Jones, Stephen J. Usala, H H Samuels, Mitchell E. Geffner, A M Smith, E Hao, J P Wuerth, D K Ways, J M Hershman

Publikováno v: Molecular Endocrinology. 8:841-851

Syndromes of resistance to thyroid hormones are caused by mutations in the T3-binding domain of the c-erbA beta thyroid hormone receptor gene. The S receptor (deletion of THR332) is a potent dominant negative protein cloned from a kindred with genera

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b3a37d6b719c0a17d5c2a6f41d0d962
https://doi.org/10.1210/mend.8.7.7984146

Zobrazit plný text záznamu

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

Autor: J. Berard, B. S. Chertow, S. J. Usala, J. W. Leidy, En-Hui Hao, J. B. Menke, W. E. C. Bradley, C. D. Cugini

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 74:1164-1170

Generalized resistance to thyroid hormones results from diverse mutations in the T3-binding domain of the c-erbA beta thyroid hormone receptor, and different kindreds have variable phenotypes. However, the T3-binding affinities of these mutant recept

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21c74d38c4b8c023d6967c04ab4d1c5c
https://doi.org/10.1210/jcem.74.5.1314846

Zobrazit plný text záznamu

Variable transcriptional activity and ligand binding of mutant beta 1 3,5,3'-triiodothyronine receptors from four families with generalized resistance to thyroid hormone

Autor: B M Dickstein, J B Menke, C A Meier, Stephen J. Usala, Barry B. Bercu, E H Hao, P Muchmore, K Ashizawa, S C Ransom, J H McClaskey

Publikováno v: Molecular Endocrinology. 6:248-258

Mutations in the gene encoding the human beta 1 T3 receptor (hTR beta 1) have been associated with generalized resistance to thyroid hormone (GRTH). We measured the T3-binding affinity and transcriptional regulatory capacity of the mutant hTR beta 1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54e8663737a379e1ac626353f61dfb49
https://doi.org/10.1210/mend.6.2.1569968

Zobrazit plný text záznamu

A novel C-terminal domain in the thyroid hormone receptor selectively mediates thyroid hormone inhibition

Autor: T R, Flynn, A N, Hollenberg, O, Cohen, J B, Menke, S J, Usala, S, Tollin, M K, Hegarty, F E, Wondisford

Publikováno v: The Journal of biological chemistry. 269(52)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::dbc3a6bbbc45baf795de7ab06be1a80b
https://pubmed.ncbi.nlm.nih.gov/7528740

Zobrazit plný text záznamu

Dominant and nondominant negative C-erbA beta 1 receptors associated with thyroid hormone resistance syndromes augment 12-O-tetradecanoyl-phorbol-13-acetate induction of the collagenase promoter and exhibit defective 3,5,3'-triiodothyronine-mediated repression

Autor: P J Parker, J M Hershman, C Jones, Paul P. Cook, A M Smith, Weixi Qin, Mitchell E. Geffner, J B Menke, E Hao, D K Ways

Publikováno v: Molecular endocrinology (Baltimore, Md.). 7(9)

C-erbA receptors and v-erbA have been shown to functionally interact with 12-O-tetradecanoyl-phorbol-13-acetate (TPA)-inducible gene expression. These proteins enhance trans-activation by c-jun, and the c-erbA receptors in the presence of thyroid hor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc5f1d3ea1488cccabf427649964f2f6
https://pubmed.ncbi.nlm.nih.gov/8247013

Zobrazit plný text záznamu

An arginine to histidine mutation in codon 311 of the C-erbA beta gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype

Autor: H H Samuels, N S Ross, C Van Dop, R K Stanzak, Jerome M. Hershman, Mitchell E. Geffner, J B Menke, T Eaton, E Hao, F Su

Publikováno v: The Journal of clinical investigation. 91(2)

We have examined the c-erbA beta thyroid hormone receptor gene in a kindred, G.H., with a member, patient G.H., who had a severe form of selective pituitary resistance to thyroid hormones (PRTH). This patient manifested inappropriately normal thyrotr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39390de580af0e11eddb706cc82efdb1
https://pubmed.ncbi.nlm.nih.gov/8381821

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání