J H McClaskey

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.

Roberto Parrilla, A. James Mixson, J A McPherson et al. · Journal of Clinical Investigation · 1991 · 247 citations · Full text

Unrelated Kindreds, Genetic Analysis, Thyroid Receptor Function +14

Thyrotropin-releasing hormone regulation of human TSHB expression: role of a pituitary-specific transcription factor (Pit-1/GHF-1) and potential interaction with a thyroid hormone-inhibitory element.

H.J. Steinfelder, Péter Hauser, Yuko Nakayama et al. · Proceedings of the National Academy of Sciences · 1991 · 133 citations

Genetics, Dna Sequences, Pituitary-specific Transcription Factor +22

Thyroid Hormone Inhibition of Human Thyrotropin β-Subunit Gene Expression is Mediated by a Cis-acting Element Located in the First Exon

Frederic E. Wondisford, E.A. Farr, Sally Radovick et al. · Journal of Biological Chemistry · 1989 · 117 citations · Full text

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

Christoph A. Meier, Bruce Dickstein, K Ashizawa et al. · Molecular Endocrinology · 1992 · 107 citations · Full text

Molecular Biology, Receptor Expression Vector, Ligand Binding +16

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.

A. James Mixson, Roberto Parrilla, Stephen C. Ransom et al. · The Journal of Clinical Endocrinology & Metabolism · 1992 · 70 citations

Language Abnormalities, Exon 9, Genetics +13