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leaD reSearcHer
Bernal, Juan
Agencia E. Consejo Superior de Investigaciones Científicas Instituto de Investigaciones Biomédicas Alberto Sols
C/ Arturo Duperier 4 28029 Madrid
(+34)91 5854447 / 600 763276 [email protected]
group website
GROUP MEMBERS
Staff members: Morte Molina, Beatriz
Associated members: Bárez López, Soledad | Gil Ibáñez, Pilar | Guadaño Ferráz, Ana Cristina | Martín Belinchón, Mónica
Main lines of research
• CONGENITAL HYPOTHYRODISM: Mechanisms of action of the thyroid hormone in the brain. Physiopathology of neural alterations over thyroid hormone deprivation during the fetal and neonatal periods. Influence of maternal thyroid hormones and consequences of maternal hypotiroxinemia over gene expression in the fetal brain.
• SLC16A2 MUTATIONS: Physiopathology of the Allan-Herndon-Dudley syndrome and deficiency of
T3 transport in the syndrome using transporter knock out mice. Development of new therapeutic approaches based on thyroid hormone analogues with alternative transport. Histopathological studies from MCT8-deficient human brains. Study of patients with MCT8-like syndromes but without SLC16A2 mutations.
• THYROID HORMONE RESISTANCE: Alteration mechanisms in mental retardation and attention deficit- hyperactivity disorder as a consequence of beta type T3 receptor mutations.
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PROGRAMMES
Endocrine Medicine