Zobrazeno 1 - 10
of 85
pro vyhledávání: '"Manuel Schmid"'
Autor:
Francesca Margara, Yiangos Psaras, Zhinuo Jenny Wang, Manuel Schmid, Ruben Doste, Amanda C. Garfinkel, Giuliana G. Repetti, Jonathan G. Seidman, Christine E. Seidman, Blanca Rodriguez, Christopher N. Toepfer, Alfonso Bueno-Orovio
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-17 (2022)
Abstract Cardiomyopathies have unresolved genotype–phenotype relationships and lack disease-specific treatments. Here we provide a framework to identify genotype-specific pathomechanisms and therapeutic targets to accelerate the development of prec
Externí odkaz:
https://doaj.org/article/ef7eab18d6564aba82cb6d5fd83d09e7
Autor:
Anna B. Meier, Sarala Raj Murthi, Hilansi Rawat, Christopher N. Toepfer, Gianluca Santamaria, Manuel Schmid, Elisa Mastantuono, Thomas Schwarzmayr, Riccardo Berutti, Julie Cleuziou, Peter Ewert, Agnes Görlach, Karin Klingel, Karl-Ludwig Laugwitz, Christine E. Seidman, Jonathan G. Seidman, Alessandra Moretti, Cordula M. Wolf
Publikováno v:
iScience, Vol 25, Iss 1, Pp 103596- (2022)
Summary: Childhood-onset myocardial hypertrophy and cardiomyopathic changes are associated with significant morbidity and mortality in early life, particularly in patients with Noonan syndrome, a multisystemic genetic disorder caused by autosomal dom
Externí odkaz:
https://doaj.org/article/ed0a2036e5be4bbba4144dc8f1dc2f9b
Autor:
Manuel Schmid, Christopher N. Toepfer
Publikováno v:
Biology Open, Vol 10, Iss 2 (2021)
The fundamental basis of muscle contraction ‘the sliding filament model’ (Huxley and Niedergerke, 1954; Huxley and Hanson, 1954) and the ‘swinging, tilting crossbridge-sliding filament mechanism’ (Huxley, 1969; Huxley and Brown, 1967) nucleat
Externí odkaz:
https://doaj.org/article/ecb9603fcd1a45d2b7a43f97d61a8c05
GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm
Autor:
Arun Sharma, Lauren K Wasson, Jon AL Willcox, Sarah U Morton, Joshua M Gorham, Daniel M DeLaughter, Meraj Neyazi, Manuel Schmid, Radhika Agarwal, Min Young Jang, Christopher N Toepfer, Tarsha Ward, Yuri Kim, Alexandre C Pereira, Steven R DePalma, Angela Tai, Seongwon Kim, David Conner, Daniel Bernstein, Bruce D Gelb, Wendy K Chung, Elizabeth Goldmuntz, George Porter, Martin Tristani-Firouzi, Deepak Srivastava, Jonathan G Seidman, Christine E Seidman, Pediatric Cardiac Genomics Consortium
Publikováno v:
eLife, Vol 9 (2020)
Damaging GATA6 variants cause cardiac outflow tract defects, sometimes with pancreatic and diaphragmic malformations. To define molecular mechanisms for these diverse developmental defects, we studied transcriptional and epigenetic responses to GATA6
Externí odkaz:
https://doaj.org/article/de48ca73426c4e9e8cd88b2b87f1b9e5
Autor:
Manuel Schmid
Open theism paints the picture of a flexible God who engages in a dynamic history with his free creatures, a history in which the future is not yet definitely known to God but rather unfolds as a range of open possibilities. As one might expect, this
Publikováno v:
AStA Advances in Statistical Analysis.
In this paper, we compute closed-form expressions of moments and comoments for the CIR process which allows us to provide a new construction of the transition probability density based on a moment argument that differs from the historic approach. For
Autor:
Francesca Margara, Yiangos Psaras, Zhinuo Jenny Wang, Manuel Schmid, Ruben Doste, Amanda Garfinkel, Giuliana G. Repetti, Jonathan Seidman, Christine Seidman, Blanca Rodriguez, Christopher N. Toepfer, Alfonso Bueno-Orovio
Cardiomyopathies have unresolved genotype-phenotype relationships and lack disease-specific treatments. Here we identify genotype-specific pathomechanisms and therapeutic targets combining experimental hiPSC-CM modelling and human-based cardiac elect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d381a7c65fb10b735346455d1914602d
https://doi.org/10.1101/2022.06.08.495324
https://doi.org/10.1101/2022.06.08.495324
Autor:
Rebecca Mächtel, Jan‐Philipp Dobert, Ute Hehr, Alexander Weiss, Matthias Kettwig, Lucia Laugwitz, Samuel Groeschel, Manuel Schmidt, Philipp Arnold, Martin Regensburger, Friederike Zunke
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 7, Pp 1715-1731 (2024)
Abstract Objective Krabbe disease (KD) is a multisystem neurodegenerative disorder with severe disability and premature death, mostly with an infancy/childhood onset. In rare cases of late‐onset phenotypes, symptoms are often milder and difficult t
Externí odkaz:
https://doaj.org/article/21c7a70980a149a8bbd8094c36ff92e6
Publikováno v:
Epidemiology Biostatistics and Public Health, Vol 15, Iss 4 (2018)
Epidemiology, Biostatistics, and Public Health; V. 15 N. 4 (2018)
Epidemiology, Biostatistics, and Public Health; Vol. 15 No. 4 (2018)
Epidemiology, Biostatistics, and Public Health; V. 15 N. 4 (2018)
Epidemiology, Biostatistics, and Public Health; Vol. 15 No. 4 (2018)
Background: Calculation of the area under the curve (AUC) is a widely used practice in longitudinal study settings. The AUC values should reflect study participants’ particular trajectories by means of a continuous measure which can be further anal
Publikováno v:
Journal of Computational Finance.