Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Rick Kamps"'
Autor:
Marta Nazzari, Mírian Romitti, Anna M. Kip, Rick Kamps, Sabine Costagliola, Twan van de Beucken, Lorenzo Moroni, Florian Caiment
Publikováno v:
Environment International, Vol 188, Iss , Pp 108748- (2024)
Introduction: Endocrine disruptors are compounds of manmade origin able to interfere with the endocrine system and constitute an important environmental concern. Indeed, detrimental effects on thyroid physiology and functioning have been described. D
Externí odkaz:
https://doaj.org/article/37aa71cc02924f55ba76a071b89bc3e0
Autor:
Antoni Vallbona-Garcia, Patrick J. Lindsey, Rick Kamps, Alphons P. M. Stassen, Nhan Nguyen, Florence H. J. van Tienen, Ilse H. J. Hamers, Rianne Hardij, Marike W. van Gisbergen, Birke J. Benedikter, Irenaeus F. M. de Coo, Carroll A. B. Webers, Theo G. M. F. Gorgels, Hubert J. M. Smeets
Publikováno v:
Frontiers in Ophthalmology, Vol 3 (2024)
IntroductionPrimary open-angle glaucoma (POAG) is a characteristic optic neuropathy, caused by degeneration of the optic nerve-forming neurons, the retinal ganglion cells (RGCs). High intraocular pressure (IOP) and aging have been identified as major
Externí odkaz:
https://doaj.org/article/6d3868ee3c8f44a88fd87508edffd404
Autor:
Auke B. C. Otten, Rick Kamps, Patrick Lindsey, Mike Gerards, Hélène Pendeville-Samain, Marc Muller, Florence H. J. van Tienen, Hubert J. M. Smeets
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 8 (2020)
High mitochondrial DNA (mtDNA) copy numbers are essential for oogenesis and embryogenesis and correlate with fertility of oocytes and viability of embryos. To understand the pathology and mechanisms associated with low mtDNA copy numbers, we knocked
Externí odkaz:
https://doaj.org/article/56a43e3547e342d7b74b4a094a8b8491
Publikováno v:
Non-Coding RNA, Vol 6, Iss 1, p 3 (2020)
Cardiovascular disease (CVD) is one of the biggest threats to public health worldwide. Identifying key genetic contributors to CVD enables clinicians to assess the most effective treatment course and prognosis, as well as potentially inform family me
Externí odkaz:
https://doaj.org/article/9b02eb3bcd1541f186095362bcb9e8f1
Autor:
Tom E. J. Theunissen, Minh Nguyen, Rick Kamps, Alexandra T. Hendrickx, Suzanne C. E. H. Sallevelt, Ralph W. H. Gottschalk, Chantal M. Calis, Alphons P. M. Stassen, Bart de Koning, Elvira N. M. Mulder-Den Hartog, Kees Schoonderwoerd, Sabine A. Fuchs, Yvonne Hilhorst-Hofstee, Marianne de Visser, Jo Vanoevelen, Radek Szklarczyk, Mike Gerards, Irenaeus F. M. de Coo, Debby M. E. I. Hellebrekers, Hubert J. M. Smeets
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Mitochondrial disorders, characterized by clinical symptoms and/or OXPHOS deficiencies, are caused by pathogenic variants in mitochondrial genes. However, pathogenic variants in some of these genes can lead to clinical manifestations which overlap wi
Externí odkaz:
https://doaj.org/article/47cd824c9ce44759b3f813412a4b8eb1
Autor:
Tom E. J. Theunissen, Mike Gerards, Debby M. E. I. Hellebrekers, Florence H. van Tienen, Rick Kamps, Suzanne C. E. H. Sallevelt, Elvira N. M. M.-D. Hartog, Hans R. Scholte, Robert M. Verdijk, Kees Schoonderwoerd, Irenaeus F. M. de Coo, Radek Szklarczyk, Hubert J. M. Smeets
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 10 (2017)
Mitochondrial disorders are genetically and clinically heterogeneous, mainly affecting high energy-demanding organs due to impaired oxidative phosphorylation (OXPHOS). Currently, effective treatments for OXPHOS defects, with complex I deficiency bein
Externí odkaz:
https://doaj.org/article/0add165ba1894e8ebb9f94e220e1530b
Autor:
Tom EJ Theunissen, Radek Szklarczyk, Mike Gerards, Debby MEI Hellebrekers, Elvira NM Mulder-Den Hartog, Jo Vanoevelen, Rick Kamps, Bart de Koning, S Lane Rutledge, Thomas Schmitt-Mechelke, Carola GM van Berkel, Marjo S van der Knaap, Irenaeus FM de Coo, Hubert JM Smeets
Publikováno v:
Frontiers in Neurology, Vol 7 (2016)
In establishing a genetic diagnosis in heterogeneous neurological disease, clinical characterization and whole exome sequencing (WES) go hand-in-hand. Clinical data are essential, not only to guide WES variant selection and define the clinical severi
Externí odkaz:
https://doaj.org/article/769aa808d8e0462fa537e50627b5aa26
Publikováno v:
Non-Coding RNA, Vol 6, Iss 1, p 3 (2020)
Non-Coding RNA
Non-coding RNA, 6(1):3. MDPI AG
Non-Coding RNA
Non-coding RNA, 6(1):3. MDPI AG
Cardiovascular disease (CVD) is one of the biggest threats to public health worldwide. Identifying key genetic contributors to CVD enables clinicians to assess the most effective treatment course and prognosis, as well as potentially inform family me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::707782470e15c83f30cb68258fc14a27
https://lirias.kuleuven.be/handle/123456789/649582
https://lirias.kuleuven.be/handle/123456789/649582
Autor:
Robert M. Verdijk, Tom E. J. Theunissen, Rick Kamps, Kees Schoonderwoerd, Marisa Simas-Mendes, Hubert J.M. Smeets, Irenaeus F.M. de Coo, Suzanne C E H Sallevelt, Bart de Koning, Iris B W Boesten, Gajja S. Salomons, Debby M.E.I. Hellebrekers, Bianca J.C. van den Bosch, Jo Vanoevelen, Radek Szklarczyk
Publikováno v:
European Journal of Human Genetics, 26(4), 537-551. Nature Publishing Group
European journal of human genetics, 26(4), 537-551. Nature Publishing Group
Kamps, R, Szklarczyk, R, Theunissen, T E, Hellebrekers, D M E I, Sallevelt, S C E H, Boesten, I B, de Koning, B, van den Bosch, B J, Salomons, G S, Simas-Mendes, M, Verdijk, R, Schoonderwoerd, K, de Coo, I F M, Vanoevelen, J M & Smeets, H J M 2018, ' Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease ', European Journal of Human Genetics, vol. 26, no. 4, pp. 537-551 . https://doi.org/10.1038/s41431-017-0058-2
European journal of human genetics, 26(4), 537-551. Nature Publishing Group
Kamps, R, Szklarczyk, R, Theunissen, T E, Hellebrekers, D M E I, Sallevelt, S C E H, Boesten, I B, de Koning, B, van den Bosch, B J, Salomons, G S, Simas-Mendes, M, Verdijk, R, Schoonderwoerd, K, de Coo, I F M, Vanoevelen, J M & Smeets, H J M 2018, ' Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease ', European Journal of Human Genetics, vol. 26, no. 4, pp. 537-551 . https://doi.org/10.1038/s41431-017-0058-2
This study aims to identify gene defects in pediatric cardiomyopathy and early-onset brain disease with oxidative phosphorylation (OXPHOS) deficiencies. We applied whole-exome sequencing in three patients with pediatric cardiomyopathy and early-onset
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a86b490d4a4faeaa27bba67593a36aab
https://doi.org/10.1038/s41431-017-0058-2
https://doi.org/10.1038/s41431-017-0058-2