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hrp0094p1-193 | Thyroid B | ESPE2021

Further evidence that Borealin/CDCA8 is involved in thyroid morphogenesis and aging

Didier-Mathon Hortense , Stoupa Athanasia , Karyiawasam Dulanjalee , Yde Sonny , Cagnard Nicolas , Nitschke Patrick , Scharfmann Raphael , Luton Dominique , Polak Michel , Carre Aurore ,

Background: We found BOREALIN/CDCA8 mutations in patients with Congenital Hypothyroidism and Thyroid Dysgenesis, varying from asymmetric lobes to athyreosis (Carré et al. Hum Mol Genet 2017). Borealin is a major component of the Chromosomal Passenger Complex, an essential regulator of mitosis. We demonstrated a new feature of BOREALIN: involvement in the adhesion and the migration of the thyrocytes.<strong...

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hrp0086ha2 | BOREALIN Mutations in Thyroid Dysgenesis Reveal a New Function of this Protein in Cell Adhesion and Migration | ESPE2016

BOREALIN Mutations in Thyroid Dysgenesis Reveal a New Function of this Protein in Cell Adhesion and Migration

Carre Aurore , Stoupa Athanasia , Karyiawasam Dulanjalee , Gueriouz Manelle , Ramond Cyrille , Gaujoux Sebastien , Glaser Nicolas , Leger Juliane , Zenaty Delphine , Nitschke Patrick , Bole-Feysot Christine , Parisot Melanie , Hubert Laurence , Scharfmann Raphael , Munnich Arnold , Besmond Claude , Taylor William , Polak Michel

Background: Congenital hypothyroidism is primarily due to thyroid dysgenesis (TD). The genes implicated in TD, account for a small number of patients with monogenic forms, less than 5%. Borealin is a major component of the Chromosomal Passenger Complex, an essential regulator of mitosis.Objective and hypotheses: To understand the role of Borealin mutations found in patients with TD.Method: We performed whole exome sequencing (WES) ...

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ESPE Abstracts

Further evidence that Borealin/CDCA8 is involved in thyroid morphogenesis and aging

BOREALIN Mutations in Thyroid Dysgenesis Reveal a New Function of this Protein in Cell Adhesion and Migration

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