Genetic disorders of the surfactant system: focus on adult disease

CHM van Moorsel, JJ van der Vis… - European Respiratory …, 2021 - Eur Respiratory Soc
Genes involved in the production of pulmonary surfactant are crucial for the development
and maintenance of healthy lungs. Germline mutations in surfactant-related genes cause a …

[HTML][HTML] MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease

…, CHM van Moorsel, J van der Vis… - … England Journal of …, 2018 - Mass Medical Soc
Background Given the phenotypic similarities between rheumatoid arthritis (RA)–associated
interstitial lung disease (ILD) (hereafter, RA-ILD) and idiopathic pulmonary fibrosis, we …

Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort

…, JJ van der Vis, HJT Ruven, HW van Es… - American journal of …, 2010 - atsjournals.org
Rationale: Familial clustering of adult idiopathic interstitial pneumonias (IIP) suggests that
genetic factors might play an important role in disease development. Mutations in the gene …

[HTML][HTML] Short telomere length in IPF lung associates with fibrotic lesions and predicts survival

…, SM Roothaan, T Peeters, JJ Van Der Vis… - PloS one, 2017 - journals.plos.org
Telomere maintenance dysfunction has been implicated in the pathogenesis of Idiopathic
Pulmonary Fibrosis (IPF). However, the mechanism of how telomere length is related to …

Telomere length in interstitial lung diseases

…, CHM Van Moorsel, KM Kazemier, JJ Van Der Vis… - Chest, 2015 - Elsevier
… Kazemier BSc a d , Joanne J. van der Vis BSc a b , Pieter Zanen MD, PhD a d , Matthijs
FM van Oosterhout MD, PhD c , Jan C. Grutters MD, PhD a d …

[HTML][HTML] SFTPA2 Mutations in Familial and Sporadic Idiopathic Interstitial Pneumonia

…, HJT Ruven, JJ van der Vis… - American journal of …, 2015 - atsjournals.org
Idiopathic interstitial pneumonias (IIPs) are diffuse lung diseases of unknown cause and high
mortality. Up to 20% of patients with IIP report having one or more family members with the …

Telomere dysfunction implicates POT1 in patients with idiopathic pulmonary fibrosis

J Kelich, T Aramburu, JJ van der Vis, L Showe… - Journal of Experimental …, 2022 - rupress.org
Exonic sequencing identified a family with idiopathic pulmonary fibrosis (IPF) containing a
previously unreported heterozygous mutation in POT1 p.(L259S). The family displays short …

Effect of M uc5b promoter polymorphism on disease predisposition and survival in idiopathic interstitial pneumonias

JJ van der Vis, R Snetselaar, KM Kazemier… - …, 2016 - Wiley Online Library
Background and objective A common polymorphism in the MUC5B gene (rs35705950) is
associated with susceptibility to idiopathic pulmonary fibrosis ( IPF ) and familial interstitial …

[HTML][HTML] The MUC5B promoter polymorphism associates with severe COVID-19 in the European population

CHM van Moorsel, JJ van der Vis, A Duckworth… - Frontiers in …, 2021 - frontiersin.org
Diversity in response on exposure to severe acute respiratory syndrome coronavirus 2 may
be related to the innate immune response in the elderly. The mucin MUC5B is an important …

MUC5B promoter variant rs35705950 and rheumatoid arthritis associated interstitial lung disease survival and progression

…, P Sidiropoulos, A Trachalaki, JJ Van der Vis… - Seminars in arthritis and …, 2021 - Elsevier
… Solomon b , Coline HM van Moorsel c , Romain Garofoli a , Joyce S. Lee d , Fabienne
Louis-… Antoniou i , Prodromos Sidiropoulos j , Athina Trachalaki k , Joanne J. van der Vis c … …