Page 79 - MEMOCiberer014-ENG

Most relevant scientific articles
• lópez-espínDola D, morales-bastos c, GriJota-martínez c, liao xH, leV D, suGo e, VerGe cF, reFetoFF s, bernal J, GuaDaño-Ferraz a . Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination . J Clin Endocrinol Metab . 2014;99(12):E2799-804 .
• núñez b, martínez De mena r, obreGon mJ, Font-llitJós m, nunes V, palacín m, Dumitrescu am, morte b, bernal J . Cerebral cortex hyperthyroidism of newborn mct8-deficient mice transiently suppressed by lat2 inactivation . PLoS One . 2014;9(5):e96915 .
• naVarro D, alVaraDo m, morte b, berbel D, sesma J, pacHeco p, morreale De escobar G, bernal J, berbel p . Late maternal hypothyroidism alters the expression of Camk4 in neocortical subplate neurons: a comparison with Nurr1 labeling . Cereb Cortex . 2014;24(10):2694-706 .
• Gil-ibáñez p, bernal J, morte b . Thyroid hormone regulation of gene expression in primary cerebrocorti- cal cells: role of thyroid hormone receptor subtypes and interactions with retinoic acid and glucocor- ticoids . PLoS One . 2014;9(3):e91692 .
• morte b, bernal J . Thyroid hormone action: astrocyte-neuron communication .Front Endocrinol (Lau- sanne) . 2014;5:82 .
Highlights
Institution: Agencia Estatal Consejo Superior de Investigaciones Científicas Contact: Instituto de Investigaciones Biomedicas Alberto Sols · C/ Arturo Duperier 4 . 28029 Madrid Phone: (+34) 91 585 44 47 / 600 763 276 / Fax (+34) 91 585 44 01 · E .mail: jbernal@iib .uam .es
The Ciberer group 708 works in three rare diseases due to defects of thyroid hormone signaling: Congenital hypothyroidism, Syndromes of Resistance to thyroid hormones due to receptor mutations, and Allan-Herndon-Dudley syndrome, due to mutations in the thyroid hormone transporter MCT8/ SLC16A2 . We use animal models to understand the pathophysiology of the syndrome, and we have contributed with contributions that have enhanced our knowledge of these diseases and also of normal physiology . We collaborated with U730 and U731 in one Doctoral Thesis .
We also provide genetic diagnosis of MCT8, THRA and THRB mutations, and counseling . Of special relevance, we have diagnosed the first case in Spain, and most cases diagnosed to date .
Juan Bernal Has participated in the International Committee for the classification and nomenclature of these syndromes, and has organized the 11th International Workshop on Thyroid Hormone Resistance and Thyroid Hormone Action in September 2014, in El Escorial, with support from patients families (Sherman Family), Mapfre Foundation, Ciberer, and the European and American Thyroid Associations . Collaborating with Ciberer, Fulbright Foundation, and U753 we organized a workshop at the Hospital La Paz . Group 708 is one of the few groups from Ciberer participating in an E-RARE proyect (2014- 2017) . It is very well positioned internationally in the study of the Allan-Herndon-Dudley syndrome (presently is writing an invited review for Nature Reviews in Endocrinology), and collaborates with the Sherman Family Association . Collaborates with Prof Refetoff (Chicago) and Dr Moreno (INGEMM) in therapy development, and is the only group in the world with brain samples (from Australia) suitable for histopathology .
www .ciberer .es 79