Designing a high-throughput somatic mutation profiling panel specifically for gynaecological cancers.

Autor: Vivian M Spaans, Marjolijn D Trietsch, Stijn Crobach, Ellen Stelloo, Dennis Kremer, Elisabeth M Osse, Natalja T ter Haar, Ronald van Eijk, Susanne Muller, Tom van Wezel, J Baptist Trimbos, Tjalling Bosse, Vincent T H B M Smit, Gert Jan Fleuren

Publikováno v: PLoS ONE, Vol 9, Iss 3, p e93451 (2014)

Somatic mutations play a major role in tumour initiation and progression. The mutation status of a tumour may predict prognosis and guide targeted therapies. The majority of techniques to study oncogenic mutations require high quality and quantity DN

Externí odkaz: https://doaj.org/article/8ab8caf93bb34100b0db4006fde484be

Influence of polymorphisms in innate immunity genes on susceptibility to invasive aspergillosis after stem cell transplantation.

Autor: Mark G J de Boer, Hetty Jolink, Constantijn J M Halkes, Pim L J van der Heiden, Dennis Kremer, J H Frederik Falkenburg, Esther van de Vosse, Jaap T van Dissel

Publikováno v: PLoS ONE, Vol 6, Iss 4, p e18403 (2011)

The innate immune system plays a pivotal role in the primary defence against invasive fungal infection. Genetic variation in genes that regulate this response, initiated by pulmonary macrophages, may influence susceptibility to invasive aspergillosis

Externí odkaz: https://doaj.org/article/fdfdd29249ce461890639c6880881c68

Aging as Accelerated Accumulation of Somatic Variants: Whole-Genome Sequencing of Centenarian and Middle-Aged Monozygotic Twin Pairs

Autor: Gert-Jan B. van Ommen, Joris Deelen, Kai Ye, Jeanine J. Houwing-Duistermaat, Rudi G. J. Westendorp, David R. Cox, P. Eline Slagboom, Dorret I. Boomsma, Seyed Yahya Anvar, Eric-Wubbo Lameijer, Zemin Ning, Quan Long, Jeroen F. J. Laros, Ruud van der Breggen, Steven J. Pitts, Keiran Raine, Yanju Zhang, Victor Guryev, Peter A C 't Hoen, Gonneke Willemsen, Shobha Potluri, Dennis Kremer, Ben Blackburne, David T. Jones, Johan T. den Dunnen, Matthijs Moed, Erik B. van den Akker, Marian Beekman

Publikováno v: Twin Research and Human Genetics; Vol 16
Twin Research and Human Genetics, 16(6), 1026-1032. Australian Academic Press
Twin Research and Human Genetics
Ye, K, Beekman, M, Lameijer, E W, Zhanga, Y, Moed, M H, van den Akker, E B, Deelen, J, Houwing-Duistermaat, J J, Kremer, D, Yahya Anvar, S, Laros, J F J, Jones, D, Raine, K, Blackburne, B, Potluri, S, Long, Q, Guryev, V, van der Breggen, R, Westendorp, R G J, 't Hoen, P A C, den Dunnen, J T, van Ommen, G J B, Willemsen, G, Pitts, S J, Cox, D R, Ning, Z, Boomsma, D I & Slagboom, P E 2013, ' Aging as Accelerated Accumulation of Somatic Variants: Whole-Genome Sequencing of Centenarian and Middle-Aged Monozygotic Twin Pairs ', Twin Research and Human Genetics, vol. 16, no. 6, pp. 1026-1032 . https://doi.org/10.1017/thg.2013.73
Twin Research and Human Genetics, 16(6), 1026-1032
Twin research and human genetics, 16(6), 1026-1032. Cambridge University Press
Twin Res Hum Genet

It has been postulated that aging is the consequence of an accelerated accumulation of somatic DNA mutations and that subsequent errors in the primary structure of proteins ultimately reach levels sufficient to affect organismal functions. The techni

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a6962afa63225873400304def3a5f0a

Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study

Autor: Torben Hansen, Dennis Kremer, P. Eline Slagboom, Johannes A. Romijn, Jana V. van Vliet-Ostaptchouk, Timon W. van Haeften, Johannes A Maassen, J. M. Dekker, Leen M 't Hart, Jan W. A. Smit, Erwin Reiling, Giel Nijpels, Robert J. Heine, Marten H. Hofker, Oluf Pedersen, André G. Uitterlinden, Els C. van Hove, Marlous J. Groenewoud, P. Arp, Esther van 't Riet

Publikováno v: European Journal of Human Genetics, 17(8), 1056-1062. Nature Publishing Group
European journal of human genetics, 17(8), 1056-1062. Nature Publishing Group
Reiling, E, van Vliet-Ostaptchouk, J V, van 't Riet, E, van Haeften, T, Arp, P A, Hansen, T K, Kremer, D, Groenewoud, M J, van Hove, E C, Romijn, J A, Smit, J W A, Nijpels, M G A A M, Heine, R J, Uitterlinden, A G, Pedersen, O, Slagboom, P E, Maassen, J A, Hofker, M, Hart, L M & Dekker, J M 2009, ' Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study ', European Journal of Human Genetics, vol. 17, no. 8, pp. 1056-1062 . https://doi.org/10.1038/ejhg.2009.4
Reiling, E, van Vliet-Ostaptchouk, J V, van 't Riet, E, van Haeften, T W, Arp, P A, Hansen, T, Kremer, D, Groenewoud, M J, van Hove, E C, Romijn, J A, Smit, J W A, Nijpels, G, Heine, R J, Uitterlinden, A G, Pedersen, O, Slagboom, P E, Maassen, J A, Hofker, M H, 't Hart, L M & Dekker, J M 2009, ' Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study ', European Journal of Human Genetics, vol. 17, no. 8, pp. 1056-62 . https://doi.org/10.1038/ejhg.2009.4

Mitochondria play an important role in many processes, like glucose metabolism, fatty acid oxidation and ATP synthesis. In this study, we aimed to identify association of common polymorphisms in nuclear-encoded genes involved in mitochondrial protein

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f50c00a26e6ea5d634efdfd2f426ea9
https://doi.org/10.1038/ejhg.2009.4

Design, measurement and processing of region-specific DNA methylation assays: The mass spectrometry-based method EpiTYPER

Autor: P. Eline Slagboom, Dennis Kremer, Bastiaan T. Heijmans, Elmar W. Tobi, H. Eka D. Suchiman, Roderick C. Slieker

Publikováno v: Frontiers in Genetics, 6(SEP):287. Frontiers Media S.A.
Frontiers in Genetics
Suchiman, H E D, Slieker, R C, Kremer, D, Slagboom, P E, Heijmans, B T & Tobi, E W 2015, ' Design, measurement and processing of region-specific DNA methylation assays : The mass spectrometry-based method EpiTYPER ', Frontiers in Genetics, vol. 6, no. SEP, 287 . https://doi.org/10.3389/fgene.2015.00287
Frontiers in Genetics, 6
Frontiers in Genetics, Vol 6 (2015)

EpiTYPER® is a mass spectrometry-based bisulfite sequencing method that enables region-specific DNA methylation analysis in a quantitative and high-throughput fashion. The technology targets genomic regions of 100-600 base pairs and results in the q

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9e2d9a9f32cad9ff4ffc880b8a70c97
https://research.vumc.nl/en/publications/c2ce895a-3f19-4dca-a5ba-7cc888eeb612