Zobrazeno 1 - 10
of 104
pro vyhledávání: '"Alex V Postma"'
Autor:
Stijntje Hibender, Siyu Li, Alex V Postma, Myrthe E Hoogeland, Denise Klaver, Richard B Pouw, Hans W Niessen, Antoine HG Driessen, David R Koolbergen, Carlie JM de Vries, Marieke JH Baars, Arjan C Houweling, Paul A Krijnen, Vivian de Waard
Publikováno v:
Vascular Biology, Vol 4, Iss 1, Pp 40-49 (2022)
Marfan syndrome (MFS) is a connective tissue disorder causing aortic aneurysm formation. Currently, only prophylactic aortic surgery and blood pressure-lowering drugs are available to reduce the risk of aortic rupture. Upon whole genome sequencing of
Externí odkaz:
https://doaj.org/article/d46834c056ed40f195ae750f5a23a4ec
Autor:
Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Anne-Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Perez-Riverol, Hashim Abdul-Khaliq, Mads Bak, Anne S Bassett, D Woodrow Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers Ef Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, Philipp Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard D Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R Marshall, Dianna M Milewicz, Scott Lemaire, Joseph S Coselli, Michael E Mitchell, Aoy Tomita-Mitchell, Siddharth K Prakash, Karl Stamm, Alexandre F R Stewart, Candice K Silversides, Reiner Siebert, Brigitte Stiller, Jill A Rosenfeld, Inga Vater, Alex V Postma, Almuth Caliebe, J David Brook, Gregor Andelfinger, Matthew E Hurles, Bernard Thienpont, Lars Allan Larsen, Marc-Phillip Hitz
Publikováno v:
PLoS Genetics, Vol 17, Iss 9, p e1009809 (2021)
[This corrects the article DOI: 10.1371/journal.pgen.1009679.].
Externí odkaz:
https://doaj.org/article/ee3c8898ef0a43729adf837c70afaa5a
Autor:
Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Anne-Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Perez-Riverol, Hashim Abdul-Khaliq, Mads Bak, Anne S Bassett, D Woodrow Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers Ef Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, Philipp Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard D Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R Marshall, Dianna M Milewicz, Scott Lemaire, Joseph S Coselli, Michael E Mitchell, Aoy Tomita-Mitchell, Siddharth K Prakash, Karl Stamm, Alexandre F R Stewart, Candice K Silversides, Reiner Siebert, Brigitte Stiller, Jill A Rosenfeld, Inga Vater, Alex V Postma, Almuth Caliebe, J David Brook, Gregor Andelfinger, Matthew E Hurles, Bernard Thienpont, Lars Allan Larsen, Marc-Phillip Hitz
Publikováno v:
PLoS Genetics, Vol 17, Iss 7, p e1009679 (2021)
Numerous genetic studies have established a role for rare genomic variants in Congenital Heart Disease (CHD) at the copy number variation (CNV) and de novo variant (DNV) level. To identify novel haploinsufficient CHD disease genes, we performed an in
Externí odkaz:
https://doaj.org/article/92067f3613e64d39b29f8fdaa8154ba8
Autor:
Robert Lesurf, Jeroen Breckpot, Jade Bouwmeester, Nour Hanafi, Anjali Jain, Yijing Liang, Tanya Papaz, Jane Lougheed, Tapas Mondal, Mahmoud Alsalehi, Luis Altamirano-Diaz, Erwin Oechslin, Enrique Audain, Gregor Dombrowsky, Alex V. Postma, Odilia I. Woudstra, Berto J. Bouma, Marc-Phillip Hitz, Connie R. Bezzina, Gillian M. Blue, David S. Winlaw, Seema Mital
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-24 (2024)
Abstract Background Congenital heart disease (CHD) is the most common congenital anomaly. Almost 90% of isolated cases have an unexplained genetic etiology after clinical testing. Non-canonical splice variants that disrupt mRNA splicing through the l
Externí odkaz:
https://doaj.org/article/1d371c4ddd2340898e94f229a04d496b
Autor:
Bjarke Jensen, Bastiaan J Boukens, Dane A Crossley II, Justin Conner, Rajiv A Mohan, Karel van Duijvenboden, Alex V Postma, Christopher R Gloschat, Ruth M Elsey, David Sedmera, Igor R Efimov, Vincent M Christoffels
Publikováno v:
eLife, Vol 7 (2018)
Mammals and birds have a specialized cardiac atrioventricular conduction system enabling rapid activation of both ventricles. This system may have evolved together with high heart rates to support their endothermic state (warm-bloodedness) and is see
Externí odkaz:
https://doaj.org/article/5fcfe392352d4541a30312ae3ea07766
Autor:
Klaartje van Engelen, Mathilda T M Mommersteeg, Marieke J H Baars, Jan Lam, Aho Ilgun, A S Paul van Trotsenburg, Anne M J B Smets, Vincent M Christoffels, Barbara J M Mulder, Alex V Postma
Publikováno v:
PLoS ONE, Vol 7, Iss 12, p e52685 (2012)
NKX2-5 is a homeodomain-containing transcription factor implied in both heart and thyroid development. Numerous mutations in NKX2-5 have been reported in individuals with congenital heart disease (CHD), but recently a select few have been associated
Externí odkaz:
https://doaj.org/article/14e479b9e14f4598ba93b6a9c3e7a1e1
Autor:
Bjarke Jensen, Bastiaan J D Boukens, Alex V Postma, Quinn D Gunst, Maurice J B van den Hoff, Antoon F M Moorman, Tobias Wang, Vincent M Christoffels
Publikováno v:
PLoS ONE, Vol 7, Iss 9, p e44231 (2012)
The endothermic state of mammals and birds requires high heart rates to accommodate the high rates of oxygen consumption. These high heart rates are driven by very similar conduction systems consisting of an atrioventricular node that slows the elect
Externí odkaz:
https://doaj.org/article/ecdb97e5aae04551b378dd3edab57a63
Autor:
Alex V. Postma, Christina K. Rapp, Katrin Knoflach, Alexander E. Volk, Johannes R. Lemke, Maximilian Ackermann, Nicolas Regamey, Philipp Latzin, Lucas Celant, Samara M.A. Jansen, Harm J. Bogaard, Aho Ilgun, Mariëlle Alders, Karin Y. van Spaendonck-Zwarts, Danny Jonigk, Christoph Klein, Stefan Gräf, Christian Kubisch, Arjan C. Houweling, Matthias Griese
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100811- (2023)
Purpose: The aim of this study was to identify the monogenic cause of pulmonary arterial hypertension (PAH), a multifactorial and often fatal disease, in 2 unrelated consanguine families. Methods: We performed exome sequencing and validated variant p
Externí odkaz:
https://doaj.org/article/dc7a871eb18547b29046bbf552c654c5
Publikováno v:
Disease models & mechanisms. 16(5)
The sinoatrial node (SAN) is the primary pacemaker of the mammalian heart, initiating its electrical activation and ensuring that the heart's functional cardiac output meets physiological demand. SAN dysfunction (SND) can cause complex cardiac arrhyt
Autor:
Irma van de Beek, Iris E Glykofridis, Jan C Oosterwijk, Peter C van den Akker, Gilles F H Diercks, Maria C Bolling, Quinten Waisfisz, Arjen R Mensenkamp, Jesper A Balk, Rob Zwart, Alex V Postma, Hanne E J Meijers-Heijboer, R Jeroen A van Moorselaar, Rob M F Wolthuis, Arjan C Houweling
Publikováno v:
van de Beek, I, Glykofridis, I E, Oosterwijk, J C, van den Akker, P C, Diercks, G F H, Bolling, M C, Waisfisz, Q, Mensenkamp, A R, Balk, J A, Zwart, R, Postma, A V, Meijers-Heijboer, H E J, van Moorselaar, R J A, Wolthuis, R M F & Houweling, A C 2023, ' PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis ', Human Molecular Genetics, vol. 32, no. 7, pp. 1223-1235 . https://doi.org/10.1093/hmg/ddac288
Human Molecular Genetics, 32, 1223-1235
Human Molecular Genetics, 32(7), 1223-1235. Oxford University Press
Human molecular genetics, 32(7), 1223-1235. Oxford University Press
Human Molecular Genetics, 32, 7, pp. 1223-1235
Human Molecular Genetics, 32, 1223-1235
Human Molecular Genetics, 32(7), 1223-1235. Oxford University Press
Human molecular genetics, 32(7), 1223-1235. Oxford University Press
Human Molecular Genetics, 32, 7, pp. 1223-1235
Contains fulltext : 291515.pdf (Publisher’s version ) (Open Access) Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder characterized by fibrofolliculomas, pulmonary cysts, pneumothoraces and renal cell carcinomas. Here, we reveal a no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19bee29415900ea2982a28cc3469f7db
https://research.vumc.nl/en/publications/d755d70a-4c1f-4979-ab6b-f902c4942091
https://research.vumc.nl/en/publications/d755d70a-4c1f-4979-ab6b-f902c4942091