GLIS1

GLIS1

The endocrine system

Published in C. Simon Herrington, Muir's Textbook of Pathology, 2020

Hyalinizing trabecular tumour is a rare follicular derived tumour containing trabeculae of polygonal cells and variable amounts of hyaline material. These rare tumours are of interest due to recent advances in molecular pathology unlocking their genetic basis. Previously RET/PTC1 gene rearrangements were described, but more recently a PAX8-GLIS3 (and rarely GLIS1) gene fusion has been described which may be a characteristic translocation in this tumour.

GWAS-driven Pathway Analyses and Functional Validation Suggest GLIS1 as a Susceptibility Gene for Mitral Valve Prolapse

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Journal Information

Published in Structural Heart, 2019

Mengyao Yu, Adrien Georges, Nathan R. Tucker, Sergiy Kyryachenko, Patrick T. Ellinor, David J. Milan, Russell (Chip) Norris, Nabila Bouatia-Naji

Conclusions: Our findings define global genetic, molecular and cellular mechanisms underlying common causes of MVP and implicate disrupted endothelial to mesenchymal transition and cell migration. Through the GLIS1 association and functional experiments, we describe a new biological pathway under the control of the Hg signalling, as a potential common mechanism to mitral valve degeneration at the population level.

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The endocrine system

GWAS-driven Pathway Analyses and Functional Validation Suggest GLIS1 as a Susceptibility Gene for Mitral Valve Prolapse