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MARELLI , Federica

Last name: MARELLI

First name: Federica

2016 (v1)

Publication

Metadata-only

JAG1 loss-of-function variations as a novel predisposing event in the pathogenesis of congenital thyroid defects

De Filippis, Tiziana Marelli, Federica Nebbia, Gabriella

Context: The pathogenesis of congenital hypothyroidism (CH) is still largely unexplained. We previously reported that perturbations of the Notch pathway and knockdown of the ligand jagged1 cause a hypothyroid phenotype in the zebrafish. Heterozygous JAG1 variants are known to account for Alagille syndrome type 1 (ALGS1), a rare multisystemic...

Uploaded on: April 14, 2023