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  1. Article ; Online: Disease Relapse Rate from Long-Term Follow-Up Data in Löfgren's Syndrome.

    Karakaya, Bekir / Veltkamp, Marcel / van Moorsel, Coline H M / Grutters, Jan C

    American journal of respiratory and critical care medicine

    2024  Volume 209, Issue 8, Page(s) 1026–1028

    MeSH term(s) Humans ; Follow-Up Studies ; Sarcoidosis, Pulmonary ; Sarcoidosis ; Chronic Disease
    Language English
    Publishing date 2024-01-29
    Publishing country United States
    Document type Letter
    ZDB-ID 1180953-x
    ISSN 1535-4970 ; 0003-0805 ; 1073-449X
    ISSN (online) 1535-4970
    ISSN 0003-0805 ; 1073-449X
    DOI 10.1164/rccm.202307-1291LE
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Desmoplakin: An Important Player in Aging Lung Disease.

    van Moorsel, Coline H M

    American journal of respiratory and critical care medicine

    2020  Volume 202, Issue 9, Page(s) 1201–1202

    MeSH term(s) Aging ; Desmoplakins/genetics ; Epithelial Cells ; Genome-Wide Association Study ; Humans ; Lung Diseases
    Chemical Substances Desmoplakins
    Language English
    Publishing date 2020-09-14
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 1180953-x
    ISSN 1535-4970 ; 0003-0805 ; 1073-449X
    ISSN (online) 1535-4970
    ISSN 0003-0805 ; 1073-449X
    DOI 10.1164/rccm.202006-2457ED
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Putting Genetics Into Practice: Challenges Associated With the Genetics of Short Telomere Syndromes.

    van Moorsel, Coline H M

    Chest

    2020  Volume 158, Issue 6, Page(s) 2249–2250

    MeSH term(s) Cell Cycle Proteins ; Humans ; Nuclear Proteins ; Pulmonary Fibrosis ; RNA ; Silent Mutation ; Syndrome ; Telomerase/genetics ; Telomere/genetics
    Chemical Substances Cell Cycle Proteins ; DKC1 protein, human ; Nuclear Proteins ; telomerase RNA ; RNA (63231-63-0) ; Telomerase (EC 2.7.7.49)
    Language English
    Publishing date 2020-11-05
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 1032552-9
    ISSN 1931-3543 ; 0012-3692
    ISSN (online) 1931-3543
    ISSN 0012-3692
    DOI 10.1016/j.chest.2020.09.071
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Clustering of lung diseases in the family of interstitial lung disease patients.

    Terwiel, Michelle / Grutters, Jan C / van Moorsel, Coline H M

    BMC pulmonary medicine

    2022  Volume 22, Issue 1, Page(s) 134

    Abstract: Background: The presence of familial interstitial lung disease (ILD) has been found to predict development of progressive pulmonary fibrosis. However, the role of non-ILD lung diseases in ILD patients' families has not yet been investigated. We aimed to ...

    Abstract Background: The presence of familial interstitial lung disease (ILD) has been found to predict development of progressive pulmonary fibrosis. However, the role of non-ILD lung diseases in ILD patients' families has not yet been investigated. We aimed to identify associations between ILDs and non-ILD lung diseases from ILD patients' self-reported family health history.
    Methods: We analysed questionnaires on family health history of 1164 ILD patients for the occurrence of ILD and non-ILD lung disease in relatives. Logistic regression analysis was used to study associations with diagnosis groups.
    Results: Familial pulmonary fibrosis was reported by 20% of patients with idiopathic pulmonary fibrosis (IPF; OR 9.2, 95% CI 4.7-17.9), and 15% of patients with unclassifiable pulmonary fibrosis (OR 4.1, 95% CI 2.0-8.2). Familial occurrence was reported by 14% of patients with sarcoidosis (OR 3.3, 95% CI 1.9-5.8). Regarding non-ILD lung disease, significantly more patients with IPF (36%) reported lung cancer in their family (OR 2.3, 95% CI 1.4-3.5), and patients with hypersensitivity pneumonitis (18%) mostly reported COPD (OR 2.3, 95% CI 1.3-4.2). Comparison of sporadic and familial ILD patients' reports showed that emphysema (OR 4.6, 95% CI 1.8-11.6), and lung cancer (OR 2.4, 95% CI 1.2-4.9) were predictive for familial pulmonary fibrosis, particularly when reported both in a family (OR 16.7, 95% CI 3.2-86.6; p < 0.001).
    Conclusions: Our findings provide evidence for clustering of ILD and non-ILD lung diseases in families and show that self-reported emphysema and lung cancer of relatives in this population predicts familial pulmonary fibrosis.
    MeSH term(s) Cluster Analysis ; Emphysema ; Humans ; Idiopathic Pulmonary Fibrosis/epidemiology ; Lung Diseases, Interstitial/epidemiology ; Lung Neoplasms
    Language English
    Publishing date 2022-04-07
    Publishing country England
    Document type Journal Article
    ZDB-ID 2059871-3
    ISSN 1471-2466 ; 1471-2466
    ISSN (online) 1471-2466
    ISSN 1471-2466
    DOI 10.1186/s12890-022-01927-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: A Comprehensive Family Health History and Genetic Analyses Are Complementary in the Detection of Risk for Progressive Pulmonary Fibrosis.

    Terwiel, Michelle / van Moorsel, Coline H M

    Chest

    2021  Volume 159, Issue 5, Page(s) 1709–1710

    MeSH term(s) Genetic Testing ; Humans ; Pulmonary Fibrosis/diagnosis ; Pulmonary Fibrosis/genetics
    Language English
    Publishing date 2021-05-08
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 1032552-9
    ISSN 1931-3543 ; 0012-3692
    ISSN (online) 1931-3543
    ISSN 0012-3692
    DOI 10.1016/j.chest.2021.02.027
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Decreased serpin C1 in extracellular vesicles predicts response to methotrexate treatment in patients with pulmonary sarcoidosis.

    Kraaijvanger, Raisa / Janssen Bonás, Montse / Grutters, Jan C / Paspali, Ioanna / Veltkamp, Marcel / de Kleijn, Dominique P V / van Moorsel, Coline H M

    Respiratory research

    2024  Volume 25, Issue 1, Page(s) 166

    Abstract: Background: Sarcoidosis is a systemic granulomatous disease of unknown etiology primarily affecting the lungs. Treatment is needed when disease symptoms worsen and organ function deteriorates. In pulmonary sarcoidosis, prednisone and methotrexate (MTX) ... ...

    Abstract Background: Sarcoidosis is a systemic granulomatous disease of unknown etiology primarily affecting the lungs. Treatment is needed when disease symptoms worsen and organ function deteriorates. In pulmonary sarcoidosis, prednisone and methotrexate (MTX) are the most common anti-inflammatory therapies. However, there is large inter-patient variability in response to treatment, and predictive response markers are currently lacking.
    Objective: In this study, we investigated the predictive potential of biomarkers in extracellular vesicles (EVs) isolated from biobanked serum of patients with pulmonary sarcoidosis stored prior to start of therapy.
    Methods: Protein concentrations of a four-protein test panel of inflammatory proteins were measured in a discovery (n = 16) and replication (n = 129) cohort of patients with sarcoidosis and 47 healthy controls. Response to therapy was defined as an improvement of the absolute score of > 5% forced vital capacity (FVC) and/or > 10% diffusion lung of carbon monoxide (DLCO) after 24 weeks compared to baseline (before treatment).
    Results: Serum protein levels differed between EV fractions and serum, and between sarcoidosis cases and controls. Serpin C1 concentrations in the low density lipid particle EV fraction were lower at baseline in the group of patients with a good response to MTX treatment in both the discovery cohort (p = 0.059) and in the replication cohort (p = 0.032). EV Serpin C1 showed to be a significant predictor for response to treatment with MTX (OR 0.4; p = 0.032).
    Conclusion: This study shows that proteins isolated from EVs harbor a distinct signal and have potential as new predictive therapy response biomarkers in sarcoidosis.
    MeSH term(s) Humans ; Sarcoidosis, Pulmonary/diagnosis ; Sarcoidosis, Pulmonary/drug therapy ; Methotrexate/therapeutic use ; Antithrombin III ; Sarcoidosis ; Biomarkers ; Extracellular Vesicles
    Chemical Substances Methotrexate (YL5FZ2Y5U1) ; Antithrombin III (9000-94-6) ; Biomarkers
    Language English
    Publishing date 2024-04-16
    Publishing country England
    Document type Journal Article
    ZDB-ID 2041675-1
    ISSN 1465-993X ; 1465-993X
    ISSN (online) 1465-993X
    ISSN 1465-993X
    DOI 10.1186/s12931-024-02809-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Trade-offs in aging lung diseases: a review on shared but opposite genetic risk variants in idiopathic pulmonary fibrosis, lung cancer and chronic obstructive pulmonary disease.

    van Moorsel, Coline H M

    Current opinion in pulmonary medicine

    2018  Volume 24, Issue 3, Page(s) 309–317

    Abstract: Purpose of review: The process of aging involves biological changes that increases susceptibility for disease. In the aging lung disease IPF, GWAS studies identified genes associated with risk for disease. Recently, several of these genes were also ... ...

    Abstract Purpose of review: The process of aging involves biological changes that increases susceptibility for disease. In the aging lung disease IPF, GWAS studies identified genes associated with risk for disease. Recently, several of these genes were also found to be involved in risk for COPD or lung cancer. This review describes GWAS-derived risk genes for IPF that overlap with risk genes for lung cancer or COPD.
    Recent findings: Risk genes that overlap between aging lung diseases, include FAM13A, DSP and TERT. Most interestingly, disease predisposing alleles for IPF are opposite to those for COPD or lung cancer. Studies show that the alleles are associated with differential gene expression and with physiological traits in the general population. The opposite allelic effect sizes suggest the presence of trade-offs in the aging lung. For TERT, the trade-off involves cellular senescence versus proliferation and repair. For FAM13A and DSP, trade-offs may involve protection from noxious gases or tissue integrity.
    Summary: The overlap in risk genes in aging lung diseases provides evidence that processes associated with FAM13A, DSP and TERT are important for healthy aging. The opposite effect size of the disease risk alleles may represent trade-offs, for which a model involving an apicobasal gene expression gradient is presented.
    MeSH term(s) Aging/genetics ; Alleles ; Cell Proliferation/genetics ; Cellular Senescence/genetics ; Desmoplakins/genetics ; GTPase-Activating Proteins/genetics ; Genetic Variation ; Humans ; Idiopathic Pulmonary Fibrosis/genetics ; Lung Neoplasms/genetics ; Phenotype ; Pulmonary Disease, Chronic Obstructive/genetics ; Risk Factors ; Telomerase/genetics
    Chemical Substances DSP protein, human ; Desmoplakins ; FAM13A protein, human ; GTPase-Activating Proteins ; TERT protein, human (EC 2.7.7.49) ; Telomerase (EC 2.7.7.49)
    Language English
    Publishing date 2018-03-08
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1285505-4
    ISSN 1531-6971 ; 1070-5287 ; 1078-1641
    ISSN (online) 1531-6971
    ISSN 1070-5287 ; 1078-1641
    DOI 10.1097/MCP.0000000000000476
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Genetic Variant Overlap Analysis Identifies Established and Putative Genes Involved in Pulmonary Fibrosis.

    Groen, Karlijn / van der Vis, Joanne J / van Batenburg, Aernoud A / Kazemier, Karin M / Grutters, Jan C / van Moorsel, Coline H M

    International journal of molecular sciences

    2023  Volume 24, Issue 3

    Abstract: In only around 40% of families with pulmonary fibrosis (PF) a suspected genetic cause can be found. Genetic overlap analysis of Whole Exome Sequencing (WES) data may be a powerful tool to discover new shared variants in novel genes for PF. As a proof of ... ...

    Abstract In only around 40% of families with pulmonary fibrosis (PF) a suspected genetic cause can be found. Genetic overlap analysis of Whole Exome Sequencing (WES) data may be a powerful tool to discover new shared variants in novel genes for PF. As a proof of principle, we first selected unrelated PF patients for whom a genetic variant was detected (n = 125) in established PF genes and searched for overlapping variants. Second, we performed WES (n = 149) and identified novel potentially deleterious variants shared by at least two unrelated PF patients. These variants were genotyped in validation cohorts (n = 2748). In 125 unrelated patients, a potentially deleterious variant was detected in known PF genes of which 15 variants in six genes overlapped, involving 51 patients. Overlap analysis of WES data identified two novel variants of interest:
    MeSH term(s) Humans ; Pulmonary Fibrosis/genetics ; Exome Sequencing ; Genotype
    Language English
    Publishing date 2023-02-01
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms24032790
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: New Insights via RNA Profiling of Formalin-Fixed Paraffin-Embedded Lung Tissue of Pulmonary Fibrosis Patients.

    Klay, Dymph / Kazemier, Karin M / van der Vis, Joanne J / Smits, Hidde M / Grutters, Jan C / van Moorsel, Coline H M

    International journal of molecular sciences

    2023  Volume 24, Issue 23

    Abstract: In sporadic idiopathic pulmonary fibrosis (sIPF) and pulmonary fibrosis caused by a mutation in telomere (TRG-PF) or surfactant related genes (SRG-PF), there are a number of aberrant cellular processes known that can lead to fibrogenesis. We investigated ...

    Abstract In sporadic idiopathic pulmonary fibrosis (sIPF) and pulmonary fibrosis caused by a mutation in telomere (TRG-PF) or surfactant related genes (SRG-PF), there are a number of aberrant cellular processes known that can lead to fibrogenesis. We investigated whether RNA expression of genes involved in these processes differed between sIPF, TRG-PF, and SRG-PF and whether expression levels were associated with survival. RNA expression of 28 genes was measured in lung biopsies of 26 sIPF, 17 TRG-PF, and 6 SRG-PF patients. Significant differences in RNA expression of
    MeSH term(s) Humans ; RNA/genetics ; Paraffin Embedding ; Lung/pathology ; Idiopathic Pulmonary Fibrosis/metabolism ; Endoplasmic Reticulum Chaperone BiP ; Formaldehyde
    Chemical Substances RNA (63231-63-0) ; Endoplasmic Reticulum Chaperone BiP ; Formaldehyde (1HG84L3525)
    Language English
    Publishing date 2023-11-25
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms242316748
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: Optimizing Screening for Early Disease Detection in Familial Pulmonary Fibrosis (FLORIS): A Prospective Cohort Study Design.

    Maus, Martijn T K / Groen, Karlijn / van der Vis, Joanne J / Grutters, Jan C / van Moorsel, Coline H M

    Journal of clinical medicine

    2023  Volume 12, Issue 2

    Abstract: ... ...

    Abstract Background
    Language English
    Publishing date 2023-01-14
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm12020674
    Database MEDical Literature Analysis and Retrieval System OnLINE

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