학술논문
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis
Document Type
article
Author
Ryan S. Dhindsa; Johan Mattsson; Abhishek Nag; Quanli Wang; Louise V. Wain; Richard Allen; Eleanor M. Wigmore; Kristina Ibanez; Dimitrios Vitsios; Sri V. V. Deevi; Sebastian Wasilewski; Maria Karlsson; Glenda Lassi; Henric Olsson; Daniel Muthas; Susan Monkley; Alex Mackay; Lynne Murray; Simon Young; Carolina Haefliger; FinnGen Consortium; Toby M. Maher; Maria G. Belvisi; Gisli Jenkins; Philip L. Molyneaux; Adam Platt; Slavé Petrovski
Source
Communications Biology, Vol 4, Iss 1, Pp 1-8 (2021)
Subject
Language
English
ISSN
2399-3642
Abstract
Ryan Dhindsa et al. conducted an exome-wide association study to identify a rare variant in SPDL1 as a risk factor for idiopathic pulmonary fibrosis (IPF). Their findings implicate mitotic checkpoint signalling as a new mechanism underlying IPF.