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ey0015.3-1 | Thyroid development | ESPEYB15

3.1 GLIS3 is indispensable for TSH/TSHR-dependent thyroid hormone biosynthesis and follicular cell proliferation

HS Kang , D Kumar , G Liao , K Lichti-Kaiser , K Gerrish , XH Liao , S Refetoff , R Jothi , AM Jetten

To read the full abstract: J Clin Invest 2017;127:4326-4337Mutations in the Krüppel-like zinc finger transcription factor GLI-similar 3 (GLIS3) have first been associated with a syndrome combining two rare genetic endocrine diseases, namely neonatal diabetes and congenital hypothyroidism (OMIM #610199)1. Since then, 12 patients have been reported so far with a broad spect...

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ey0018.5-16 | Advances in skeletal biology | ESPEYB18

5.16. Secondary ossification center induces and protects growth plate structure

Xie Meng , Herdina Anna Nele , Estefa Jordi , Medvedeva Ekaterina V , Li Lei , Newton Phillip T , Kotova Svetlana , Shavkuta Boris , Saxena Aditya , Shumate Lauren T , Metscher Brian D , Groszschmidt Karl , Nishimori Shigeki , Akovantseva Anastasia , Usanova Anna P , Kurenkova Anastasiia D , Kumar Anoop , Arregui Irene Linares , Tafforeau Paul , Fried Kaj , Carlstrom Mattias , Simon Andras , Gasser Christian , Kronenberg Henry M , Bastepe Murat , Cooper Kimberly L , Timashev Peter , Sanchez Sophie , Adameyko Igor , Eriksson Anders , Chagin Andrei S

Elife. 2020 Oct 16;9:e55212 Abstract: https://pubmed.ncbi.nlm.nih.gov/33063669/In brief: In some species, growth plate and articular cartilage are not separated by secondary ossification centers. Here, the authors used mathematical modeling, ex vivo models and biophysical tests and indirectly demonstrate that secondary ossification centers evolved in order to protect the g...

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ey0021.8-13 | New Hope | ESPEYB21

8.13. The role of interferon-[gamma] in autoimmune polyendocrine syndrome Type 1

V Oikonomou , G Smith , GM Constantine , MM Schmitt , EMN Ferre , JC Alejo , D Riley , D Kumar , Dias L Dos Santos , J Pechacek , Y Hadjiyannis , T Webb , BA Seifert , R Ghosh , M Walkiewicz , D Martin , M Besnard , BD Snarr , S Deljookorani , CR Lee , T DiMaggio , P Barber , LB Rosen , A Cheng , A Rastegar , AA de Jesus , J Stoddard , HS Kuehn , TJ Break , HH Kong , L Castelo-Soccio , B Colton , BM Warner , DE Kleiner , MM Quezado , JL Davis , KP Fennelly , KN Olivier , SD Rosenzweig , AF Suffredini , MS Anderson , M Swidergall , C Guillonneau , LD Notarangelo , R Goldbach-Mansky , O Neth , MT Monserrat-Garcia , J Valverde-Fernandez , JM Lucena , AL Gomez-Gila , A Garcia Rojas , MRJ Seppanen , J Lohi , M Hero , S Laakso , P Klemetti , V Lundberg , O Ekwall , P Olbrich , KK Winer , B Afzali , NM Moutsopoulos , SM Holland , T Heller , S Pittaluga , MS Lionakis

Brief Summary: This study suggests that excessive interferon-γmediated responses have a pathogenic role in APS-1 and provides the foundation for therapies that affect interferon-γmediated disease.Commentary: Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (APECED), is an autosomal recessive multiorgan syndrome caused by loss-of-function variants in ...

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ESPE Yearbook of Paediatric Endocrinology

3.1 GLIS3 is indispensable for TSH/TSHR-dependent thyroid hormone biosynthesis and follicular cell proliferation

5.16. Secondary ossification center induces and protects growth plate structure

8.13. The role of interferon-[gamma] in autoimmune polyendocrine syndrome Type 1

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