A Heterozygous Mutation in Cardiac Troponin T Promotes Ca2+ Dysregulation and Adult Cardiomyopathy in Zebrafish

Autor: Sarah M. Kamel, Charlotte D. Koopman, Fabian Kruse, Sven Willekers, Sonja Chocron, Jeroen Bakkers

Publikováno v: Journal of Cardiovascular Development and Disease, Vol 8, Iss 4, p 46 (2021)

Cardiomyopathies are a group of heterogeneous diseases that affect the muscles of the heart, leading to early morbidity and mortality in young and adults. Genetic forms of cardiomyopathy are caused predominantly by mutations in structural components

Externí odkaz: https://doaj.org/article/2fbde33ac8bb495fac405f101a7f4447

Bmp and nodal independently regulate lefty1 expression to maintain unilateral nodal activity during left-right axis specification in zebrafish.

Autor: Kelly A Smith, Emily Noël, Ingrid Thurlings, Holger Rehmann, Sonja Chocron, Jeroen Bakkers

Publikováno v: PLoS Genetics, Vol 7, Iss 9, p e1002289 (2011)

In vertebrates, left-right (LR) axis specification is determined by a ciliated structure in the posterior region of the embryo. Fluid flow in this ciliated structure is responsible for the induction of unilateral left-sided Nodal activity in the late

Externí odkaz: https://doaj.org/article/d0e5c9c6605e4cf2bc97e95b50bba6ce

A Heterozygous Mutation in Cardiac Troponin T Promotes Ca2+ Dysregulation and Adult Cardiomyopathy in Zebrafish

Autor: Fabian Kruse, Sarah M. Kamel, Jeroen Bakkers, Sven Willekers, Sonja Chocron, Charlotte D. Koopman

Publikováno v: Journal of Cardiovascular Development and Disease
Volume 8
Issue 4
Journal of Cardiovascular Development and Disease, Vol 8, Iss 46, p 46 (2021)
Journal of Cardiovascular Development and Disease, 8(4). Multidisciplinary Digital Publishing Institute (MDPI)

Cardiomyopathies are a group of heterogeneous diseases that affect the muscles of the heart, leading to early morbidity and mortality in young and adults. Genetic forms of cardiomyopathy are caused predominantly by mutations in structural components

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9824d72ca41d94988b305d0cc21cbbae
http://europepmc.org/articles/PMC8072640

Rare novel variants in the ZIC3 gene cause X-linked heterotaxy

Autor: Iben Bache, Arthur van den Wijngaard, Crool Velter, Ingrid P.C. Krapels, Kristiina Avela, Sonja Chocron, Florence H J van Tienen, Bálint Nagy, Godelieve R.F. Claes, Aimee D C Paulussen, Lisa Leth Maroun, Irene Valenzuela, Anja Steyls, Jeroen Bakkers, Jo Vanoevelen, Hubert J.M. Smeets, Catarina Lundin, Han G. Brunner, Gita M. B. Tan-Sindhunata

Publikováno v: European Journal of Human Genetics, 24(12), 1783-1791. Nature Publishing Group
European Journal of Human Genetics, 24(12), 1783. Nature Publishing Group
Paulussen, A D C, Steyls, A, Vanoevelen, J, van Tienen, F H J, Krapels, I P C, Claes, G R F, Chocron, S, Velter, C, Tan-Sindhunata, G M, Lundin, C, Valenzuela, I, Nagy, B, Bache, I, Maroun, L L, Avela, K, Brunner, H G, Smeets, H J M, Bakkers, J & van den Wijngaard, A 2016, ' Rare novel variants in the ZIC3 gene cause X-linked heterotaxy ', European Journal of Human Genetics, vol. 24, no. 12, pp. 1783-1791 . https://doi.org/10.1038/ejhg.2016.91
European Journal of Human Genetics. Nature Publishing Group
European Journal of Human Genetics, 24, 1783-1791
European Journal of Human Genetics, 24, 12, pp. 1783-1791

Contains fulltext : 168089.pdf (Publisher’s version ) (Open Access) Variants in the ZIC3 gene are rare, but have demonstrated their profound clinical significance in X-linked heterotaxy, affecting in particular male patients with abnormal arrangeme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abfa92fe7c8282247c7597d0ebfda639
https://doi.org/10.1038/ejhg.2016.91

Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders

Autor: Karen Duran, Mieke M. van Haelst, Sarah M. Kamel, Sanne M C Savelberg, Federico Tessadori, Helen I. Roessler, Jeroen Bakkers, Gijs van Haaften, Sonja Chocron

Publikováno v: Disease Models & Mechanisms
DMM Disease Models and Mechanisms, 11(10). Company of Biologists Ltd
Disease Models & Mechanisms, 11(10). Company of Biologists Ltd
Disease Models and Mechanisms, 11(10):dmm035469. Company of Biologists Ltd
Disease Models & Mechanisms, Vol 11, Iss 10 (2018)
Tessadori, F, Roessler, H I, Savelberg, S M C, Chocron, S, Kamel, S M, Duran, K J, van Haelst, M M, van Haaften, G & Bakkers, J 2018, ' Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders ', Disease Models and Mechanisms, vol. 11, no. 10, dmm035469 . https://doi.org/10.1242/dmm.035469

The zebrafish (Danio rerio) has become a popular vertebrate model organism to study organ formation and function due to its optical clarity and rapid embryonic development. The use of genetically modified zebrafish has also allowed identification of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92e4760a16a681f1fd6f559e0f48ac79
https://pubmed.ncbi.nlm.nih.gov/30355756