Zobrazeno 1 - 10
of 77
pro vyhledávání: '"Elisabeth M, Lodder"'
Autor:
Gerard A. Marchal, Maaike van Putten, Arie O. Verkerk, Simona Casini, Kayleigh Putker, Shirley C. M. van Amersfoorth, Annemieke Aartsma-Rus, Elisabeth M. Lodder, Carol Ann Remme
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disorder caused by loss of dystrophin. This lack also affects cardiac structure and function, and cardiovascular complications are a major cause of death in DMD. Newly develope
Externí odkaz:
https://doaj.org/article/e66d62ff25c047aab32a8e28fe2c4a19
Autor:
Amber A van der Heijden, Leen M 't Hart, Laura H van Dongen, Peter P Harms, Mark Hoogendoorn, Dominic S Zimmerman, Elisabeth M Lodder, Ron Herings, Giel Nijpels, Karin M A Swart, Marieke T Blom, Petra J Elders
Publikováno v:
Open Heart, Vol 8, Iss 1 (2021)
Introduction Early recognition of individuals with increased risk of sudden cardiac arrest (SCA) remains challenging. SCA research so far has used data from cardiologist care, but missed most SCA victims, since they were only in general practitioner
Externí odkaz:
https://doaj.org/article/89758417078f4e8ebc42f20073331ba9
Autor:
Najim Lahrouchi, Aman George, Ilham Ratbi, Ronen Schneider, Siham C. Elalaoui, Shahida Moosa, Sanita Bharti, Ruchi Sharma, Mones Abu-Asab, Felix Onojafe, Najlae Adadi, Elisabeth M. Lodder, Fatima-Zahra Laarabi, Yassine Lamsyah, Hamza Elorch, Imane Chebbar, Alex V. Postma, Vassilios Lougaris, Alessandro Plebani, Janine Altmueller, Henriette Kyrieleis, Vardiella Meiner, Helen McNeill, Kapil Bharti, Stanislas Lyonnet, Bernd Wollnik, Alexandra Henrion-Caude, Amina Berraho, Friedhelm Hildebrandt, Connie R. Bezzina, Brian P. Brooks, Abdelaziz Sefiani
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Loss of the cadherin FAT1 has been associated with nephropathy and epithelial cell adhesion defects. Here, the authors report five families with a syndromic form of coloboma associated with homozygous frameshift variants in FAT1 and recapitulate the
Externí odkaz:
https://doaj.org/article/545b350bd5bd4581abda47c5716aaca3
Autor:
Koen T. Scholman, Veronique M. F. Meijborg, Carolina Gálvez-Montón, Elisabeth M. Lodder, Bastiaan J. Boukens
Publikováno v:
Frontiers in Physiology, Vol 11 (2020)
Genome Wide Association Studies (GWAS) have provided an enormous amount of data on genomic loci associated with cardiac electrophysiology and arrhythmias. Clinical relevance, however, remains unclear since GWAS do not provide a mechanistic explanatio
Externí odkaz:
https://doaj.org/article/79998e86c9914831822569e60386f1d4
Autor:
Charlotte Glinge, Thomas Engstrøm, Sofie E Midgley, Michael W T Tanck, Jeppe Ekstrand Halkjær Madsen, Frants Pedersen, Mia Ravn Jacobsen, Elisabeth M Lodder, Nour R Al-Hussainy, Niels Kjær Stampe, Ramona Trebbien, Lars Køber, Thomas Gerds, Christian Torp-Pedersen, Thea K Fischer, Connie R Bezzina, Jacob Tfelt-Hansen, Reza Jabbari
Publikováno v:
PLoS ONE, Vol 15, Iss 2, p e0226936 (2020)
AIMS:To investigate seasonality and association of increased enterovirus and influenza activity in the community with ventricular fibrillation (VF) risk during first ST-elevation myocardial infarction (STEMI). METHODS:This study comprised all consecu
Externí odkaz:
https://doaj.org/article/86d1dda305e44c549ee89acbfcf2a939
Autor:
Charlotte Glinge, Thomas Engstrøm, Sofie E Midgley, Michael W T Tanck, Jeppe Ekstrand Halkjær Madsen, Frants Pedersen, Mia Ravn Jacobsen, Elisabeth M Lodder, Nour R Al-Hussainy, Niels Kjær Stampe, Ramona Trebbien, Lars Køber, Thomas Gerds, Christian Torp-Pedersen, Thea Kølsen Fischer, Connie R Bezzina, Jacob Tfelt-Hansen, Reza Jabbari
Publikováno v:
PLoS ONE, Vol 15, Iss 4, p e0232569 (2020)
[This corrects the article DOI: 10.1371/journal.pone.0226936.].
Externí odkaz:
https://doaj.org/article/6f8d72eef8b14ac2b61e0cce309fa994
Autor:
Erwin Brosens, Janine F Felix, Anne Boerema-de Munck, Elisabeth M de Jong, Elisabeth M Lodder, Sigrid Swagemakers, Marjon Buscop-van Kempen, Ronald R de Krijger, Rene M H Wijnen, Wilfred F J van IJcken, Peter van der Spek, Annelies de Klein, Dick Tibboel, Robbert J Rottier
Publikováno v:
PLoS ONE, Vol 15, Iss 11, p e0242167 (2020)
Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are relatively frequently occurring foregut malformations. EA/TEF is thought to have a strong genetic component. Not much is known regarding the biological processes disturbed or which cell
Externí odkaz:
https://doaj.org/article/86775dfab8754da684eea651fe11660b
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 12, p 6422 (2021)
In the two decades since the discovery of TNNI3K it has been implicated in multiple cardiac phenotypes and physiological processes. TNNI3K is an understudied kinase, which is mainly expressed in the heart. Human genetic variants in TNNI3K are associa
Externí odkaz:
https://doaj.org/article/44036d14c4bd431188babc2b7e98aac0
Autor:
Matthias Heinig, Michiel E. Adriaens, Sebastian Schafer, Hanneke W. M. van Deutekom, Elisabeth M. Lodder, James S. Ware, Valentin Schneider, Leanne E. Felkin, Esther E. Creemers, Benjamin Meder, Hugo A. Katus, Frank Rühle, Monika Stoll, François Cambien, Eric Villard, Philippe Charron, Andras Varro, Nanette H. Bishopric, Alfred L. George, Cristobal dos Remedios, Aida Moreno-Moral, Francesco Pesce, Anja Bauerfeind, Franz Rüschendorf, Carola Rintisch, Enrico Petretto, Paul J. Barton, Stuart A. Cook, Yigal M. Pinto, Connie R. Bezzina, Norbert Hubner
Publikováno v:
Genome Biology, Vol 18, Iss 1, Pp 1-21 (2017)
Abstract Background Genetic variation is an important determinant of RNA transcription and splicing, which in turn contributes to variation in human traits, including cardiovascular diseases. Results Here we report the first in-depth survey of heart
Externí odkaz:
https://doaj.org/article/8e7bacbcd5ca43fa9bd815bc4899b453
Autor:
Christiaan C. Veerman, Isabella Mengarelli, Charlotte D. Koopman, Ronald Wilders, Shirley C. van Amersfoorth, Diane Bakker, Rianne Wolswinkel, Mariam Hababa, Teun P. de Boer, Kaomei Guan, James Milnes, Elisabeth M. Lodder, Jeroen Bakkers, Arie O. Verkerk, Connie R. Bezzina
Publikováno v:
Disease Models & Mechanisms, Vol 12, Iss 7 (2019)
Mutations in GNB5, encoding the G-protein β5 subunit (Gβ5), have recently been linked to a multisystem disorder that includes severe bradycardia. Here, we investigated the mechanism underlying bradycardia caused by the recessive p.S81L Gβ5 variant
Externí odkaz:
https://doaj.org/article/9a0498e951bf479a8ce5b96fc11940df