Searchable abstracts of presentations at key conferences in endocrinology

ea0029p1609 | Thyroid (non-cancer) | ICEECE2012

Dyrk1A (dual-specificity thyrosine (Y)-phosphorylation regulated kinase 1A) overexpression is linked to congenital hypothyroidism in Down syndrome

Kariyawasam D. , Martin-Pena M. , Rachdi L. , Carre A. , Houlier M. , Dupuy C. , Janel N. , Delabar J. , Polak M.

Introduction: Trisomy 21 or Down Syndrome (DS) patients have a predisposition for Congenital Hypothyroidism which can aggravate their mental status.Hypothesis: The presence of three copy of Dyrk1a gene, localized in chromosome 21 in Humans, is responsible for a thyroidal dysgenesis.Our aim is to understand the molecular mechanisms underlying this condition.Methods: The transgenic Dyrk1a (TgDyrk1a) mouse, our ...