Rare Variants in <i>RTEL1</i> Are Associated with Familial Interstitial Pneumonia

2015197 citationsJournal Articlegreen Open Access

Authors

Joy D. Cogan · Pediatrics and Genetics

Jonathan A. Kropski · Pulmonary and Allergy Associates

Min Zhao

Daphne B. Mitchell · Pulmonary and Allergy Associates

Lynette Rives · Pediatrics and Genetics

Cheryl Markin · Pulmonary and Allergy Associates

Errine T. Garnett · Pulmonary and Allergy Associates

Abstract

Rare loss-of-function variants in RTEL1 represent a newly defined genetic predisposition for FIP, supporting the importance of telomere-related pathways in pulmonary fibrosis.

Topics & Keywords

Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis Cystic Fibrosis Research Advances Digestive system and related health

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: American Journal of Respiratory and Critical Care Medicine

Volume 191, Issue 6, pp. 646-655

DOI: 10.1164/rccm.201408-1510oc

Field-Weighted Citation Impact: 19.85