Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect-Reference-Cited by-同舟云学术

Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect

Published:2019-07-27 Issue:9 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Piccolo Pasquale¹²,Sabatino Valeria¹,Mithbaokar Pratibha¹,Polishchuk Elena¹,Hicks John³,Polishchuk Roman¹,Bacino Carlos A.⁴,Brunetti‐Pierri Nicola¹²^ORCID

Affiliation:

1. Telethon Institute of Genetics and Medicine Pozzuoli Italy

2. Department of Translational Medicine Federico II University of Naples Naples Italy

3. Department of Pathology Baylor College of Medicine Houston Texas

4. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas

Funder

Fondazione Telethon

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.844

Reference20 articles.

1. Angiotensin II Blockade and Aortic-Root Dilation in Marfan's Syndrome

2. A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

3. Matrix-dependent perturbation of TGFβ signaling and disease

4. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

5. Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia – a novel mouse model providing insights into geleophysic dysplasia

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