Myhre syndrome (MS) is an ultra-rare disorder due to pathogenic variants in the SMAD4 gene that encodes a protein regulating the TGF-β pathway and extra-cellular matrix (ECM) homeostasis. Main clinical features of MS include thickening of skin and joint stiffness. Previous studies showed that losartan improved ECM deposition in MS fibroblasts.
A pilot clinical trial with losartan in Myhre syndrome / Cappuccio, Gerarda; Caiazza, Martina; Roca, Alessandro; Melis, Daniela; Iuliano, Antonella; Matyas, Gabor; Rubino, Marta; Limongelli, Giuseppe; Brunetti-Pierri, Nicola. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - (2020). [10.1002/ajmg.a.62019]
A pilot clinical trial with losartan in Myhre syndrome
Cappuccio, Gerarda;Brunetti-Pierri, Nicola
2020
Abstract
Myhre syndrome (MS) is an ultra-rare disorder due to pathogenic variants in the SMAD4 gene that encodes a protein regulating the TGF-β pathway and extra-cellular matrix (ECM) homeostasis. Main clinical features of MS include thickening of skin and joint stiffness. Previous studies showed that losartan improved ECM deposition in MS fibroblasts.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
