ea0070aep965 | Thyroid | ECE2020
Chartoumpekis Dionysios
, Ziros Panos
, Renaud Cédric
, Bongiovanni Massimo
, Habeos Ioannis
, Liao Xiao-Hui
, Refetoff Samuel
, Kopp Peter
, Brix Klaudia
, Sykiotis Gerasimos
Background: KEAP1 gene (Kelch-like ECH-associated protein 1) that encodes the main inhibitor of nuclear factor erythroid 2-related transcription factor 2 (Nrf2), a central mediator of antioxidant responses, has been found to be one of the mutated genes that lead to familial multinodular goiter (MNG). The proposed association of KEAP1 with familial MNG is based on only two loss-of-function mutations in respective Japanese families. To date, there is no experim...