European Respiratory Society statement on familial pulmonary fibrosis

R Borie, C Kannengiesser, K Antoniou… - European …, 2023 - Eur Respiratory Soc
Genetic predisposition to pulmonary fibrosis has been confirmed by the discovery of several
gene mutations that cause pulmonary fibrosis. Although genetic sequencing of familial …

Incorporating genetics into the identification and treatment of idiopathic pulmonary fibrosis

SK Mathai, IV Yang, MI Schwarz, DA Schwartz - BMC medicine, 2015 - Springer
Background Idiopathic pulmonary fibrosis, the most common form of idiopathic interstitial
pneumonia, is characterized by progressive, irreversible scarring of the lung parenchyma …

Familial pulmonary fibrosis: genetic features and clinical implications

D Zhang, CA Newton - Chest, 2021 - Elsevier
Pulmonary fibrosis comprises a wide range of fibrotic lung diseases with unknown
pathogenesis and poor prognosis. Familial pulmonary fibrosis (FPF) represents a unique …

Genetics of idiopathic pulmonary fibrosis: from mechanistic pathways to personalised medicine

P Spagnolo, V Cottin - Journal of medical genetics, 2017 - jmg.bmj.com
Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive and ultimately fatal disorder for
which there is no cure. While the disease is by definition idiopathic, accumulating evidence …

Genetic evaluation and testing of patients and families with idiopathic pulmonary fibrosis

JA Kropski, LR Young, JD Cogan… - American journal of …, 2017 - atsjournals.org
There has been increasing recognition that genetic factors play important roles in both
sporadic and familial cases of idiopathic pulmonary fibrosis (IPF)(1). Current data indicate …

Pulmonary fibrosis, part I: epidemiology, pathogenesis, and diagnosis

KC Meyer - Expert review of respiratory medicine, 2017 - Taylor & Francis
Introduction: Many forms of interstitial lung disease (ILD) can progress to extensive fibrosis
and respiratory failure. Idiopathic pulmonary fibrosis (IPF), which generally has a poor …

An exome sequencing study to assess the role of rare genetic variation in pulmonary fibrosis

S Petrovski, JL Todd, MT Durheim, Q Wang… - American journal of …, 2017 - atsjournals.org
Rationale: Idiopathic pulmonary fibrosis (IPF) is an increasingly recognized, often fatal lung
disease of unknown etiology. Objectives: The aim of this study was to use whole-exome …

Familial pulmonary fibrosis

R Borie, C Kannengiesser, N Nathan, L Tabèze… - Revue des maladies …, 2015 - Elsevier
The occurrence of pulmonary fibrosis in numerous individuals from the same family
suggests a genetic cause for the disease. During the last 10 years, mutations involving …

Translational research in pulmonary fibrosis

SK Mathai, DA Schwartz - Translational Research, 2019 - Elsevier
Pulmonary fibrosis refers to the development of diffuse parenchymal abnormalities in the
lung that cause dyspnea, cough, hypoxemia, and impair gas exchange, ultimately leading to …

The role of genetic testing in pulmonary fibrosis: a perspective from the pulmonary fibrosis foundation genetic testing work group

CA Newton, JM Oldham, C Applegate, N Carmichael… - Chest, 2022 - Elsevier
Patients with familial pulmonary fibrosis represent a subset of patients with pulmonary
fibrosis in whom inherited gene variation predisposes them to disease development. In the …