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32 results on '"Van Batenburg, Aernoud A"'

1. A new variant in the ZCCHC8 gene: diverse clinical phenotypes and expression in the lung

Author

Researchafd. Longtransplantatie, Genetica Oper.Mang. Clinical Genetics, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Longziekten, Infection & Immunity, Groen, Karlijn, van der Vis, Joanne J, van Batenburg, Aernoud A, Kazemier, Karin M, de Bruijn, Marjolein J W, Stadhouders, Ralph, Arp, Pascal, Verkerk, Annemieke J M H, Schoemaker, Angela E, de Bie, Charlotte I, Massink, Maarten P G, van Beek, Frouke T, Grutters, Jan C, Vergouw, Leonie J M, van Moorsel, Coline H M, Researchafd. Longtransplantatie, Genetica Oper.Mang. Clinical Genetics, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Longziekten, Infection & Immunity, Groen, Karlijn, van der Vis, Joanne J, van Batenburg, Aernoud A, Kazemier, Karin M, de Bruijn, Marjolein J W, Stadhouders, Ralph, Arp, Pascal, Verkerk, Annemieke J M H, Schoemaker, Angela E, de Bie, Charlotte I, Massink, Maarten P G, van Beek, Frouke T, Grutters, Jan C, Vergouw, Leonie J M, and van Moorsel, Coline H M

Published
2024

2. A new variant in the ZCCHC8 gene:diverse clinical phenotypes and expression in the lung

Author

Groen, Karlijn, van der Vis, Joanne J., van Batenburg, Aernoud A., Kazemier, Karin M., de Bruijn, Marjolein J.W., Stadhouders, Ralph, Arp, Pascal, Verkerk, Annemieke J.M.H., Schoemaker, Angela E., de Bie, Charlotte I., Massink, Maarten P.G., van Beek, Frouke T., Grutters, Jan C., Vergouw, Leonie J.M., van Moorsel, Coline H.M., Groen, Karlijn, van der Vis, Joanne J., van Batenburg, Aernoud A., Kazemier, Karin M., de Bruijn, Marjolein J.W., Stadhouders, Ralph, Arp, Pascal, Verkerk, Annemieke J.M.H., Schoemaker, Angela E., de Bie, Charlotte I., Massink, Maarten P.G., van Beek, Frouke T., Grutters, Jan C., Vergouw, Leonie J.M., and van Moorsel, Coline H.M.

Abstract

Introduction:Pulmonary fibrosis is a severe disease which can be familial. A genetic cause can only be found in ∼40% of families. Searching for shared novel genetic variants may aid the discovery of new genetic causes of disease. Methods:Whole-exome sequencing was performed in 152 unrelated patients with a suspected genetic cause of pulmonary fibrosis from the St Antonius interstitial lung disease biobank. Variants of interest were selected by filtering for novel, potentially deleterious variants that were present in at least three unrelated pulmonary fibrosis patients. Results:The novel c.586G>A p.(E196K) variant in the ZCCHC8 gene was observed in three unrelated patients: two familial patients and one sporadic patient, who was later genealogically linked to one of the families. The variant was identified in nine additional relatives with pulmonary fibrosis and other telomererelated phenotypes, such as pulmonary arterial venous malformations, emphysema, myelodysplastic syndrome, acute myeloid leukaemia and dyskeratosis congenita. One family showed incomplete segregation, with absence of the variant in one pulmonary fibrosis patient who carried a PARN variant. The majority of ZCCHC8 variant carriers showed short telomeres in blood. ZCCHC8 protein was located in different lung cell types, including alveolar type 2 (AT2) pneumocytes, the culprit cells in pulmonary fibrosis. AT2 cells showed telomere shortening and increased DNA damage, which was comparable to patients with sporadic pulmonary fibrosis and those with pulmonary fibrosis carrying a telomere-related gene variant, respectively. Discussion:The ZCCHC8 c.586G>A variant confirms the involvement of ZCCHC8 in pulmonary fibrosis and short-telomere syndromes and underlines the importance of including the ZCCHC8 gene in diagnostic gene panels for these diseases.

Published
2024

3. Genetic Variant Overlap Analysis Identifies Established and Putative Genes Involved in Pulmonary Fibrosis

Author

Pathologie Groep Goldschmeding, Cancer, Infection & Immunity, Researchafd. Longtransplantatie, Longziekten, Groen, Karlijn, van der Vis, Joanne J., van Batenburg, Aernoud A., Kazemier, Karin M., Grutters, Jan C., van Moorsel, Coline H.M., Pathologie Groep Goldschmeding, Cancer, Infection & Immunity, Researchafd. Longtransplantatie, Longziekten, Groen, Karlijn, van der Vis, Joanne J., van Batenburg, Aernoud A., Kazemier, Karin M., Grutters, Jan C., and van Moorsel, Coline H.M.

Published
2023

6. The aging lung: tissue telomere shortening in health and disease

Author

Everaerts, Stephanie, Lammertyn, Elise J., Martens, Dries S., De Sadeleer, Laurens J., Maes, Karen, van Batenburg, Aernoud A., Goldschmeding, Roel, van Moorsel, Coline H. M., Dupont, Lieven J., Wuyts, Wim A., Vos, Robin, Gayan-Ramirez, Ghislaine, Kaminski, Naftali, Hogg, James C., Janssens, Wim, Verleden, Geert M., Nawrot, Tim S., Verleden, Stijn E., McDonough, John E., and Vanaudenaerde, Bart M.

Published
2018
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10. Telomere shortening and dna damage in culprit cells of different types of progressive fibrosing interstitial lung disease

Author

Researchafd. Longtransplantatie, Infection & Immunity, Longziekten, Pathologie Pathologen staf, Circulatory Health, van Batenburg, Aernoud A., Kazemier, Karin M., van Oosterhout, Matthijs F.M., van der Vis, Joanne J., Grutters, Jan C., Goldschmeding, Roel, van Moorsel, Coline H.M., Researchafd. Longtransplantatie, Infection & Immunity, Longziekten, Pathologie Pathologen staf, Circulatory Health, van Batenburg, Aernoud A., Kazemier, Karin M., van Oosterhout, Matthijs F.M., van der Vis, Joanne J., Grutters, Jan C., Goldschmeding, Roel, and van Moorsel, Coline H.M.

Published
2021

11. Pulmonary fibrosis in non-mutation carriers of families with short telomere syndrome gene mutations

Author

Genetica Klinische Genetica, Circulatory Health, Pathologie Groep Goldschmeding, Cancer, Pathologie Pathologen staf, Longziekten, Infection & Immunity, van der Vis, Joanne J., van der Smagt, Jasper J., van Batenburg, Aernoud A., Goldschmeding, Roel, van Es, H. Wouter, Grutters, Jan C., van Moorsel, Coline H.M., Genetica Klinische Genetica, Circulatory Health, Pathologie Groep Goldschmeding, Cancer, Pathologie Pathologen staf, Longziekten, Infection & Immunity, van der Vis, Joanne J., van der Smagt, Jasper J., van Batenburg, Aernoud A., Goldschmeding, Roel, van Es, H. Wouter, Grutters, Jan C., and van Moorsel, Coline H.M.

Published
2021

12. The Extent of Inflammatory Cell Infiltrate and Fibrosis in Lungs of Telomere- and Surfactant-Related Familial Pulmonary Fibrosis

Author

Pathologie Groep Goldschmeding, Cancer, Pathologie Opleiding, Researchafd. Longtransplantatie, Infection & Immunity, Longziekten, Pathologie Pathologen staf, Circulatory Health, van Batenburg, Aernoud A., van Oosterhout, Matthijs F.M., Knoppert, Sebastiaan N., Kazemier, Karin M., van der Vis, Joanne J., Grutters, Jan C., Goldschmeding, Roel, van Moorsel, Coline H.M., Pathologie Groep Goldschmeding, Cancer, Pathologie Opleiding, Researchafd. Longtransplantatie, Infection & Immunity, Longziekten, Pathologie Pathologen staf, Circulatory Health, van Batenburg, Aernoud A., van Oosterhout, Matthijs F.M., Knoppert, Sebastiaan N., Kazemier, Karin M., van der Vis, Joanne J., Grutters, Jan C., Goldschmeding, Roel, and van Moorsel, Coline H.M.

Published
2021

14. From organ to cell: Multi-level telomere length assessment in patients with idiopathic pulmonary fibrosis

Author

Researchafd. Longtransplantatie, Infection & Immunity, Longziekten, Pathologie Pathologen staf, Circulatory Health, van Batenburg, Aernoud A, Kazemier, Karin M, van Oosterhout, Matthijs F M, van der Vis, Joanne J, van Es, Hendrik W, Grutters, Jan C, Goldschmeding, Roel, van Moorsel, Coline H M, Researchafd. Longtransplantatie, Infection & Immunity, Longziekten, Pathologie Pathologen staf, Circulatory Health, van Batenburg, Aernoud A, Kazemier, Karin M, van Oosterhout, Matthijs F M, van der Vis, Joanne J, van Es, Hendrik W, Grutters, Jan C, Goldschmeding, Roel, and van Moorsel, Coline H M

Published
2020

15. Pulmonary fibrosis in non‐mutation carriers of families with short telomere syndrome gene mutations.

Author

van der Vis, Joanne J., van der Smagt, Jasper J., van Batenburg, Aernoud A., Goldschmeding, Roel, van Es, H. Wouter, Grutters, Jan C., and van Moorsel, Coline H. M.

Subjects
PULMONARY fibrosis, TELOMERES, GENETIC mutation, GENETIC testing, DISEASE risk factors, GENETIC disorders
Abstract

Background and objective: Diagnostic and predictive genetic testing for disease cause and risk estimation is common in many countries. For genetic diseases, predictive test results are commonly straightforward: presence of the mutation involves increased risk for disease and absence of the mutation involves no inherit risk for disease. Germline mutations in telomere‐related genes (TRGs) can lead to telomere shortening and are associated with short telomere syndrome (STS). Telomere length is heritable, and in families with STS due to a TRG mutation, progeny with and without the TRG mutation is known to have shorter than average telomeres. We hypothesize that progeny of TRG mutation carriers who did not inherit the TRG mutation may still develop pulmonary fibrosis. Methods: A genetic screen of 99 unrelated families with familial pulmonary fibrosis revealed five patients with features of pulmonary fibrosis but without carrying the familial disease‐causing TRG mutation. Results: Features of STS were present in each family, including short telomeres in blood and tissue of the non‐mutation carrying patients. Additional genetic, clinical or environmental risk factors for pulmonary fibrosis were present in each non‐mutation carrying patient. Conclusion: Our study shows that non‐mutation carrying first‐degree relatives in families with STS are at increased risk for pulmonary fibrosis. Disease development may be triggered by inherited short telomeres and additional risk factors for disease. This observation has profound consequences for genetic counselling. Unlike any other genetic syndrome, absence of the mutation does not imply absence of disease risk. Therefore, clinical follow‐up is still urged for non‐mutation carrying first‐degree family members. We present five patients with familial pulmonary fibrosis without carrying the familial telomere‐related gene (TRG) mutation. This shows that increased risk for disease may be induced by inheritance of short telomeres. It implies that, in predictive genetic testing, absence of TRG mutation does not exclude the risk for disease. See relatedEditorial [ABSTRACT FROM AUTHOR]

Published
2021
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17. Cell Type-Specific Quantification of Telomere Length and DNA Double-strand Breaks in Individual Lung Cells by Fluorescence In Situ Hybridization and Fluorescent Immunohistochemistry

Author

van Batenburg, Aernoud A, Kazemier, Karin M, Peeters, Ton, van Oosterhout, Matthijs F M, van der Vis, Joanne J, Grutters, Jan C, Goldschmeding, Roel, van Moorsel, Coline H M, van Batenburg, Aernoud A, Kazemier, Karin M, Peeters, Ton, van Oosterhout, Matthijs F M, van der Vis, Joanne J, Grutters, Jan C, Goldschmeding, Roel, and van Moorsel, Coline H M

Published
2018

18. Cell Type-Specific Quantification of Telomere Length and DNA Double-strand Breaks in Individual Lung Cells by Fluorescence In Situ Hybridization and Fluorescent Immunohistochemistry

Author

Pathologie Groep Goldschmeding, Researchafd. Longtransplantatie, Infection & Immunity, Longziekten, Pathologie Pathologen staf, Circulatory Health, van Batenburg, Aernoud A, Kazemier, Karin M, Peeters, Ton, van Oosterhout, Matthijs F M, van der Vis, Joanne J, Grutters, Jan C, Goldschmeding, Roel, van Moorsel, Coline H M, Pathologie Groep Goldschmeding, Researchafd. Longtransplantatie, Infection & Immunity, Longziekten, Pathologie Pathologen staf, Circulatory Health, van Batenburg, Aernoud A, Kazemier, Karin M, Peeters, Ton, van Oosterhout, Matthijs F M, van der Vis, Joanne J, Grutters, Jan C, Goldschmeding, Roel, and van Moorsel, Coline H M

Published
2018

19. The aging lung: tissue telomere shortening in health and disease

Author

Pathologie Groep Goldschmeding, Pathologie Pathologen staf, Circulatory Health, Everaerts, Stephanie, Lammertyn, Elise J, Martens, Dries S, De Sadeleer, Laurens J, Maes, Karen, van Batenburg, Aernoud A, Goldschmeding, Roel, van Moorsel, Coline H M, Dupont, Lieven J, Wuyts, Wim A, Vos, Robin, Gayan-Ramirez, Ghislaine, Kaminski, Naftali, Hogg, James C, Janssens, Wim, Verleden, Geert M, Nawrot, Tim S, Verleden, Stijn E, McDonough, John E, Vanaudenaerde, Bart M, Pathologie Groep Goldschmeding, Pathologie Pathologen staf, Circulatory Health, Everaerts, Stephanie, Lammertyn, Elise J, Martens, Dries S, De Sadeleer, Laurens J, Maes, Karen, van Batenburg, Aernoud A, Goldschmeding, Roel, van Moorsel, Coline H M, Dupont, Lieven J, Wuyts, Wim A, Vos, Robin, Gayan-Ramirez, Ghislaine, Kaminski, Naftali, Hogg, James C, Janssens, Wim, Verleden, Geert M, Nawrot, Tim S, Verleden, Stijn E, McDonough, John E, and Vanaudenaerde, Bart M

Published
2018

21. Cell Type–Specific Quantification of Telomere Length and DNA Double-strand Breaks in Individual Lung Cells by Fluorescence In Situ Hybridization and Fluorescent Immunohistochemistry

Author

van Batenburg, Aernoud A., primary, Kazemier, Karin M., additional, Peeters, Ton, additional, van Oosterhout, Matthijs F. M., additional, van der Vis, Joanne J., additional, Grutters, Jan C., additional, Goldschmeding, Roel, additional, and van Moorsel, Coline H. M., additional

Published
2018
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23. Evidence for multiple modes of neutrophil serine protease recognition by the EAP family of Staphylococcal innate immune evasion proteins

Author

Stapels, Daphne A.C., primary, Woehl, Jordan L., additional, Milder, Fin J., additional, Tromp, Angelino T., additional, van Batenburg, Aernoud A., additional, de Graaf, Wilco C., additional, Broll, Samuel C., additional, White, Natalie M., additional, Rooijakkers, Suzan H.M., additional, and Geisbrecht, Brian V., additional

Published
2017
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25. Short telomere length in IPF lung associates with fibrotic lesions and predicts survival

Author

Snetselaar, Reinier, van Batenburg, Aernoud A., van Oosterhout, Matthijs F., Kazemier, Karin M., Roothaan, Suzan M., Peeters, Ton, Van Der Vis, Joanne J., Goldschmeding, Roel, Grutters, Jan C., Van Moorsel, Coline H.M., Snetselaar, Reinier, van Batenburg, Aernoud A., van Oosterhout, Matthijs F., Kazemier, Karin M., Roothaan, Suzan M., Peeters, Ton, Van Der Vis, Joanne J., Goldschmeding, Roel, Grutters, Jan C., and Van Moorsel, Coline H.M.

Published
2017

26. Short telomere length in IPF lung associates with fibrotic lesions and predicts survival

Author

Arts Assistenten Longziekten, Pathologie Groep Goldschmeding, Infection & Immunity, Researchafd. Longtransplantatie, Pathologie Histologie, Pathologie, Pathologie Pathologen staf, Circulatory Health, Longziekten, Snetselaar, Reinier, van Batenburg, Aernoud A., van Oosterhout, Matthijs F., Kazemier, Karin M., Roothaan, Suzan M., Peeters, Ton, Van Der Vis, Joanne J., Goldschmeding, Roel, Grutters, Jan C., Van Moorsel, Coline H.M., Arts Assistenten Longziekten, Pathologie Groep Goldschmeding, Infection & Immunity, Researchafd. Longtransplantatie, Pathologie Histologie, Pathologie, Pathologie Pathologen staf, Circulatory Health, Longziekten, Snetselaar, Reinier, van Batenburg, Aernoud A., van Oosterhout, Matthijs F., Kazemier, Karin M., Roothaan, Suzan M., Peeters, Ton, Van Der Vis, Joanne J., Goldschmeding, Roel, Grutters, Jan C., and Van Moorsel, Coline H.M.

Published
2017

27. Understanding Idiopathic Interstitial Pneumonia: A Gene-Based Review of Stressed Lungs

Author

van Moorsel, Coline H. M., Hoffman, Thijs W., van Batenburg, Aernoud A., Klay, Dymph, van der Vis, Joanne J., and Grutters, Jan C.

Subjects
Article Subject
Abstract

Pulmonary fibrosis is the main cause of severe morbidity and mortality in idiopathic interstitial pneumonias (IIP). In the past years, there has been major progress in the discovery of genetic factors that contribute to disease. Genes with highly penetrant mutations or strongly predisposing common risk alleles have been identified in familial and sporadic IIP. This review summarizes genes harbouring causative rare mutations and replicated common predisposing alleles. To date, rare mutations in nine different genes and five risk alleles fulfil this criterion. Mutated genes represent three genes involved in surfactant homeostasis and six genes involved in telomere maintenance. We summarize gene function, gene expressing cells, and pathological consequences of genetic alterations associated with disease. Consequences of the genetic alteration include dysfunctional surfactant processing, ER stress, immune dysregulation, and maintenance of telomere length. Biological evidence shows that these processes point towards a central role for alveolar epithelial type II cell dysfunction. However, tabulation also shows that function and consequence of most common risk alleles are not known. Most importantly, the predisposition of the MUC5B risk allele to disease is not understood. We propose a mechanism whereby MUC5B decreases surface tension lowering capacity of alveolar surfactant at areas with maximal mechanical stress.

Published
2015
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30. Understanding Idiopathic Interstitial Pneumonia: A Gene-Based Review of Stressed Lungs

Author

Researchafd. Longtransplantatie, Pathologie Groep Goldschmeding, Arts Assistenten Longziekten, Longziekten, Infection & Immunity, van Moorsel, Coline H M, Hoffman, Thijs W, van Batenburg, Aernoud A, Klay, Dymph, van der Vis, Joanne J, Grutters, JC, Researchafd. Longtransplantatie, Pathologie Groep Goldschmeding, Arts Assistenten Longziekten, Longziekten, Infection & Immunity, van Moorsel, Coline H M, Hoffman, Thijs W, van Batenburg, Aernoud A, Klay, Dymph, van der Vis, Joanne J, and Grutters, JC

Published
2015

32. The aging lung: tissue telomere shortening in health and disease

Author

Everaerts, Stephanie, Lammertyn, Elise J, Martens, Dries S, De Sadeleer, Laurens J, Maes, Karen, Van Batenburg, Aernoud A, Goldschmeding, Roel, Van Moorsel, Coline H M, Dupont, Lieven J, Wuyts, Wim A, Vos, Robin, Gayan-Ramirez, Ghislaine, Kaminski, Naftali, Hogg, James C, Janssens, Wim, Verleden, Geert M, Nawrot, Tim S, Verleden, Stijn E, McDonough, John E, and Vanaudenaerde, Bart M

Subjects
respiratory system, respiratory tract diseases, 3. Good health
Abstract

Background: Telomere shortening has been associated with several lung diseases. However, telomere length is generally measured in peripheral blood leucocytes rather than in lung tissue, where disease occurs. Consequently, telomere dynamics have not been established for the normal human lung nor for diseased lung tissue. We hypothesized an age- and disease-dependent shortening of lung tissue telomeres. Methods: At time of (re-)transplantation or autopsy, 70 explant lungs were collected: from unused donors (normal, n = 13) and patients with cystic fibrosis (CF, n = 12), chronic obstructive pulmonary disease (COPD, n = 11), chronic hypersensitivity pneumonitis (cHP, n = 9), bronchiolitis obliterans syndrome (BOS) after prior transplantation (n = 11) and restrictive allograft syndrome (RAS) after prior transplantation (n = 14). Lungs were inflated, frozen and then scanned using CT. Four tissue cores from distinct lung regions were sampled for analysis. Disease severity was evaluated using CT and micro CT imaging. DNA was extracted from the samples and average relative telomere length (RTL) was determined using real-time qPCR. Results: The normal lungs showed a decrease in RTL with age (p < 0.0001). Of the diseased lungs, only BOS and RAS showed significant RTL decrease with increasing lung age (p = 0.0220 and p = 0.0272 respectively). Furthermore, we found that RTL showed considerable variability between samples within both normal and diseased lungs. cHP, BOS and RAS lungs had significant shorter RTL in comparison with normal lungs, after adjustment for lung age, sex and BMI (p < 0.0001, p = 0.0051 and p = 0.0301 respectively). When investigating the relation between RTL and regional disease severity in CF, cHP and RAS, no association was found. Conclusion: These results show a progressive decline in telomere length with age in normal, BOS and RAS lungs. cHP, BOS and RAS lungs demonstrated shorter RTL compared to normal lungs. Lung tissue RTL does not associate with regional disease severity within the lung. Therefore, tissue RTL does not seem to fully reflect peripheral blood telomere length.

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