نتایج جستجو برای: hormone receptor

تعداد نتایج: 695034  

Journal: :The Journal of Clinical Endocrinology & Metabolism 1999

Journal: :Proceedings of the National Academy of Sciences 1987

Journal: :The New England journal of medicine 2012
Elena Bochukova Nadia Schoenmakers Maura Agostini Erik Schoenmakers Odelia Rajanayagam Julia M Keogh Elana Henning Jana Reinemund Evelien Gevers Margarita Sarri Kate Downes Amaka Offiah Assunta Albanese David Halsall John W R Schwabe Murray Bain Keith Lindley Francesco Muntoni Faraneh Vargha-Khadem Mehul Dattani I Sadaf Farooqi Mark Gurnell Krishna Chatterjee

Thyroid hormones exert their effects through alpha (TRα1) and beta (TRβ1 and TRβ2) receptors. Here we describe a child with classic features of hypothyroidism (growth retardation, developmental retardation, skeletal dysplasia, and severe constipation) but only borderline-abnormal thyroid hormone levels. Using whole-exome sequencing, we identified a de novo heterozygous nonsense mutation in a ge...

Journal: :The Journal of clinical investigation 1991
V K Chatterjee T Nagaya L D Madison S Datta A Rentoumis J L Jameson

Thyroid hormone (T3) resistance is inherited in most cases in an autosomal dominant manner. The disorder is characterized by elevated free thyroid hormone levels and partial resistance to thyroid hormone at the cellular level. Distinct single amino acid substitutions in the ligand binding domain of the beta form of the thyroid hormone receptor have been described in two kindreds with this disor...

2016
Annika Mohr Florenza Lüder Ripoli Susanne Conradine Hammer Saskia Willenbrock Marion Hewicker-Trautwein Zdzisław Kiełbowicz Hugo Murua Escobar Ingo Nolte

Immunohistochemistry (IHC) is currently considered the method of choice for steroid hormone receptor status evaluation in human breast cancer and, therefore, it is commonly utilized for assessing canine mammary tumors. In case of low hormone receptor expression, IHC is limited and thus is complemented by molecular analyses. In the present study, a multiplex bDNA assay was evaluated as a method ...

Journal: :Head & neck 2014
Bernhard Schick Julia Dlugaiczyk Olaf Wendler

BACKGROUND Predilection of juvenile angiofibromas in adolescent boys has prompted the hypothesis of hormone-dependent tumor growth. However, knowledge on expression and function of sex hormone receptors in juvenile angiofibromas is still sparse and inconsistent. METHODS Transcript and protein expression of sex hormone receptors in juvenile angiofibromas was studied by quantitative reverse tra...

Journal: :The EMBO journal 1997
R White M Sjöberg E Kalkhoven M G Parker

The oestrogen receptor is a member of the nuclear receptor family of transcription factors which, on binding the steroid hormone 17beta-oestradiol, interacts with co-activator proteins and stimulates gene expression. Replacement of a single tyrosine in the hormone-binding domain generated activated forms of the receptor which stimulated transcription in the absence of hormone. This increased ac...

Journal: :The Journal of biological chemistry 1993
M L Moyer K C Borror B J Bona D B DeFranco S K Nordeen

We have stably introduced expression vectors for the glucocorticoid receptor and a sensitive, hormone-responsive reporter (mouse mammary tumor virus-luciferase) into a human breast carcinoma-derived cell line. Employing this cell line, we have conducted a detailed examination of the induction of glucocorticoid-regulated genes and the phosphorylation of glucocorticoid receptor following pharmaco...

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