CORDIS Project
Funding breakdown and partner intelligence are Premium
Sign in and upgrade to Premium for EU contribution totals, consortium analytics, OpenAlex research context, and AI summaries. · 0 consortium intelligence fields visible of 1
Start free • Cancel anytime • 14-day refund guarantee
This project investigates the molecular mechanisms behind thyroid hormone receptor mutations that lead to developmental issues. By studying the effects of these mutations, the research aims to establish a link between genotype and clinical phenotype in affected patients.
Thyroid hormone (TH) is crucial for the normal development and metabolism of all tissues.
The actions of the bioactive T3 are mediated by binding to its nuclear receptors (TRs), of which TRa1 and TRb1 are the main isoforms.
It is known for decades that mutations in TRb1 result in resistance to TH, among others characterized by goiter and tachycardia, and abnormal TH levels.Ever since its characterization in 1987, investigators have searched for patients with mutations in TRa1.
However, very rece…
Partner organizations (coordinator is shown above), with normalized type and CORDIS activity type. Guests see up to 4 partners.
Similar projects, consortium collaboration history, frequent partners, and OpenAlex research context.
Guests see up to 5 EuroSciVoc fields.
Guests see up to 5 topics.
