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44 results on '"Kazemier, Karin M."'

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

6. Simultaneous Assessment of mTORC1, JAK/STAT, and NLRP3 Inflammasome Activation Pathways in Patients with Sarcoidosis

Author

Zorgeenheid Vaatchirurgie Medisch, Infection & Immunity, Longziekten, Kraaijvanger, Raisa, Ambarus, Carmen A., Damen, Jan, van der Vis, Joanne J., Kazemier, Karin M., Grutters, Jan C., van Moorsel, Coline H.M., Veltkamp, Marcel, Zorgeenheid Vaatchirurgie Medisch, Infection & Immunity, Longziekten, Kraaijvanger, Raisa, Ambarus, Carmen A., Damen, Jan, van der Vis, Joanne J., Kazemier, Karin M., Grutters, Jan C., van Moorsel, Coline H.M., and Veltkamp, Marcel

Published
2023

7. 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

8. New Insights via RNA Profiling of Formalin-Fixed Paraffin-Embedded Lung Tissue of Pulmonary Fibrosis Patients

Author

Researchafd. Longtransplantatie, CTI Van Wijk, Longziekten, Infection & Immunity, Klay, Dymph, Kazemier, Karin M, van der Vis, Joanne J, Smits, Hidde M, Grutters, Jan C, van Moorsel, Coline H M, Researchafd. Longtransplantatie, CTI Van Wijk, Longziekten, Infection & Immunity, Klay, Dymph, Kazemier, Karin M, van der Vis, Joanne J, Smits, Hidde M, Grutters, Jan C, and van Moorsel, Coline H M

Published
2023

14. A Polymorphism in C-C Chemokine Receptor 5 (CCR5) Associates with Löfgren’s Syndrome and Alters Receptor Expression as well as Functional Response

Author

Karakaya, Bekir, primary, van Moorsel, Coline H. M., additional, Veltkamp, Marcel, additional, Roodenburg-Benschop, Claudia, additional, Kazemier, Karin M., additional, van der Helm-van Mil, Annette H. M., additional, Huizinga, Tom W. J., additional, Grutters, Jan C., additional, and Rijkers, Ger T., additional

Published
2021
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15. 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

16. A polymorphism in C-C chemokine receptor 5 (CCR5) associates with löfgren’s syndrome and alters receptor expression as well as functional response

Author

Infection & Immunity, Researchafd. Longtransplantatie, Informatisering, Longziekten, Karakaya, Bekir, van Moorsel, Coline H.M., Veltkamp, Marcel, Roodenburg-Benschop, Claudia, Kazemier, Karin M., van der Helm-Mil, Annette H.M., Huizinga, Tom W.J., Grutters, Jan C., Rijkers, Ger T., Infection & Immunity, Researchafd. Longtransplantatie, Informatisering, Longziekten, Karakaya, Bekir, van Moorsel, Coline H.M., Veltkamp, Marcel, Roodenburg-Benschop, Claudia, Kazemier, Karin M., van der Helm-Mil, Annette H.M., Huizinga, Tom W.J., Grutters, Jan C., and Rijkers, Ger T.

Published
2021

17. 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

19. 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

28. 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

29. 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

30. 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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31. 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

32. 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

34. Telomere length in interstitial lung diseases

Author

Arts Assistenten Longziekten, Researchafd. Longtransplantatie, Infection & Immunity, Afdeling Longfunctie, Longziekten, Snetselaar, Reinier, Van Moorsel, Coline H M, Kazemier, Karin M., Van Der Vis, Joanne J., Zanen, Pieter, Van Oosterhout, Matthijs F M, Grutters, Jan C., Arts Assistenten Longziekten, Researchafd. Longtransplantatie, Infection & Immunity, Afdeling Longfunctie, Longziekten, Snetselaar, Reinier, Van Moorsel, Coline H M, Kazemier, Karin M., Van Der Vis, Joanne J., Zanen, Pieter, Van Oosterhout, Matthijs F M, and Grutters, Jan C.

Published
2015

37. Effect of Muc5b promoter polymorphism on disease predisposition and survival in idiopathic interstitial pneumonias.

Author

Vis, Joanne J., Snetselaar, Reinier, Kazemier, Karin M., Klooster, Liesbeth, Grutters, Jan C., and Moorsel, Coline H.M.

Subjects
IDIOPATHIC pulmonary fibrosis, GENETIC polymorphisms, LUNG diseases, CASE-control method, DISEASE susceptibility
Abstract

Background and objective A common polymorphism in the MUC5B gene (rs35705950) is associated with susceptibility to idiopathic pulmonary fibrosis ( IPF) and familial interstitial pneumonia ( FIP). We investigated predisposition of the MUC5B polymorphism to fibrotic interstitial pneumonias in Dutch Caucasian patient cohorts. Furthermore, we investigated the correlation between MUC5B genotype and survival in these cohorts. Methods Sporadic IPF ( spIPF, n = 115), FIP ( n = 55), idiopathic non-specific interstitial pneumonia ( iNSIP, n = 43), connective tissue disease associated interstitial pneumonia ( CTD_ IP, n = 35) and a control cohort ( n = 249) were genotyped for rs35705950. Results Rs35705950 minor allele frequency ( MAF) in controls was 0.09. Case-control analysis showed significant allelic association with spIPF ( MAF = 0.27; P = 5.0 × 10−10), FIP ( MAF = 0.30; P = 2.7 × 10−9) and iNSIP ( MAF = 0.22; P = 3.4 × 10−4). No association was observed in CTD_ IP ( MAF = 0.07). FIP subgroup analysis revealed an association between MUC5B and telomerase mutated FIP ( P = 0.003), and between MUC5B and FIP with unknown genetic cause ( P = 1.2 × 10−8). In spIPF carriership of MUC5B minor allele did not influence survival. In FIP MUC5B minor allele carriers had better survival (non-carriers 37 vs carriers 53 months, P = 0.01). In iNSIP survival analysis showed an opposite effect. Worse survival was found in iNSIP patients that carried the MUC5B minor allele (non-carriers 118 vs carriers 46 months, P = 0.027) Conclusion This study showed that MUC5B minor allele predisposes to spIPF, FIP and iNSIP. In spIPF, survival is not influenced by MUC5B alleles. In FIP, MUC5B minor allele predicts better survival, pointing towards a subgroup of FIP patients with a milder, MUC5B-driven form of pulmonary fibrosis. [ABSTRACT FROM AUTHOR]

Published
2016
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39. A genetic polymorphism in the CAV1 gene associates with the development of bronchiolitis obliterans syndrome after lung transplantation

Author

Kastelijn, Elisabeth A, primary, van Moorsel, Coline HM, additional, Kazemier, Karin M, additional, Roothaan, Suzan M, additional, Ruven, Henk JT, additional, Kwakkel-van Erp, Johanna M, additional, van de Graaf, Ed A, additional, Zanen, Pieter, additional, van Kessel, Diana A, additional, and Grutters, Jan C, additional

Published
2011
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43. Expression of the outcome predictor in acute leukemia 1 (OPAL1)gene is not an independent prognostic factor in patients treated according to COALL or St Jude protocols

Author

Holleman, Amy, den Boer, Monique L., Cheok, Meyling H., Kazemier, Karin M., Pei, Deqing, Downing, James R., Janka-Schaub, Gritta E., Göbel, Ulrich, Graubner, Ulrike B., Pui, Ching-Hon, Evans, William E., and Pieters, Rob

Abstract

New prognostic factors may result in better risk classification and improved treatment of children with acute lymphoblastic leukemia (ALL). Recently, high expression of a gene named OPAL1(outcome predictor in acute leukemia) was reported to be associated with favorable prognosis in ALL. Therefore, we investigated whether OPAL1expression was of prognostic importance in 2 independent cohorts of children with ALL treated on Cooperative Study Group for Childhood Acute Lymphoblastic Leukemia (COALL)–92/97 (n = 180) and St Jude Total 13 protocols (n = 257). We observed a consistently higher (2.8-fold) expression of OPAL1in TEL-AML1–positive ALL compared with TEL-AML1–negative ALL in both cohorts, but higher OPAL1expression was not consistently associated with other favorable prognostic indicators such as age and white blood cell count, or ALL genetic subtype. Lower OPAL1expression was also not associated with increased in vitro drug resistance. Multivariate analyses including known risk factors showed that OPAL1expression was not independently related to prognosis in either the COALL or St Jude cohorts. In conclusion, OPAL1expression may not be an independent prognostic feature in childhood ALL, and its previously reported prognostic impact appears to be treatment dependent.

Published
2006
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44. Effect of the histone deacetylase inhibitor depsipeptide on B-cell differentiation in both TEL-AML1-positive and negative childhood acute lymphoblastic leukemia.

Author

Stams WA, den Boer ML, Beverloo HB, Kazemier KM, van Wering ER, Janka-Schaub GE, and Pieters R

Subjects
Antigens, Differentiation, B-Lymphocyte analysis, Antineoplastic Agents pharmacology, Asparaginase pharmacology, B-Lymphocytes pathology, Bone Marrow Cells drug effects, Bone Marrow Cells enzymology, Butyrates pharmacology, Cell Differentiation drug effects, Humans, Myeloid Cells drug effects, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma enzymology, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma genetics, Precursor Cell Lymphoblastic Leukemia-Lymphoma enzymology, Precursor Cell Lymphoblastic Leukemia-Lymphoma genetics, Tumor Cells, Cultured drug effects, Tumor Cells, Cultured enzymology, Antibiotics, Antineoplastic pharmacology, B-Lymphocytes drug effects, Core Binding Factor Alpha 2 Subunit analysis, Depsipeptides pharmacology, Histone Deacetylase Inhibitors, Oncogene Proteins, Fusion analysis, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma pathology, Precursor Cell Lymphoblastic Leukemia-Lymphoma pathology
Abstract

The fusion protein TEL-AML1 in t(12;21)+ acute lymphoblastic leukemia (ALL) recruits co-repressors and histone deacetylases (HDAC), which transrepress AML1 target genes. Normal bone marrow cells were more resistant to HDAC inhibitor FK228 induced cell killing than were cells from ALL patients with or without t(12;21). FK228 induced differentiation in ALL, irrespective of the presence of t(12;21).

Published
2005

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