ISSN 1662-4009 (online)

ey0017.3-3 | Thyroid development | ESPEYB17

3.3. Glis3 as a critical regulator of thyroid primordium specification

G Rurale , F Marelli , P Duminuco , L Persani

To read the full abstract: Thyroid. 2020;30:277–289.GLIS3 gene mutations are associated with a syndrome that combines neonatal diabetes and congenital hypothyroidism due to thyroid dysgenesis [1]. Glis3 knockout mouse models showed functional deficits of thyroid hormone synthesis but were not able to shed light on the role of Glis3 during thyroid organogenesis resulting in thyroid dysgenesis. Rurale et al.</em...

ey0020.5-12 | Basic Research | ESPEYB20

5.12. Defective jagged-1 signaling affects GnRH development and contributes to congenital hypogonadotropic hypogonadism

L Cotellessa , F Marelli , P Duminuco , M Adamo , GE Papadakis , L Bartoloni , N Sato , M Lang-Muritano , A Troendle , WS Dhillo , A Morelli , G Guarnieri , N Pitteloud , L Persani , M Bonomi , P Giacobini , V Vezzoli

Brief summary: Using a combination of expression studies in human embryos as well as functional studies in zebrafish and genetic sequencing of patient with congenital hypogonadotropic hypogonadism, this study identified a novel role for Jag1/Notch signaling in the development of GnRH neurons.GnRH neurons have a unique characteristic as they start life in the olfactory placode and then migrate into the hypothalamus during embryonic development, thanks to ...