Zobrazeno 1 - 10
of 1 575
pro vyhledávání: '"Congenital cardiomyopathy"'
Akademický článek
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Autor:
Lu YW, Liang Z, Guo H, Fernandes T, Espinoza-Lewis RA, Wang T, Li K, Li X, Singh GB, Wang Y, Cowan D, Mably JD, Philpott CC, Chen H, Wang DZ
Publikováno v:
BioRxiv : the preprint server for biology [bioRxiv] 2023 May 18. Date of Electronic Publication: 2023 May 18.
Akademický článek
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Autor:
Louw, Jacoba J.1,2, Nunes Bastos, Ricardo3, Chen, Xiaowen4, Verdood, Céline2, Corveleyn, Anniek2, Jia, Yaojuan2, Breckpot, Jeroen2, Gewillig, Marc1, Peeters, Hilde2, Santoro, Massimo M.5, Barr, Francis3, Devriendt, Koenraad2 koenraad.devriendt@uzleuven.be
Publikováno v:
PLoS Genetics. 1/22/2018, Vol. 14 Issue 1, p1-17. 17p.
Autor:
Yao Wei Lu, Zhuomin Liang, Haipeng Guo, Tiago Fernandes, Ramon A Espinoza-Lewis, Tingting Wang, Kathryn Li, Xue Li, Gurinder Bir Singh, Yi Wang, Douglas Cowan, John D Mably, Caroline C. Philpott, Hong Chen, Da-Zhi Wang
Publikováno v:
bioRxiv
SUMMARYAlanyl-transfer RNA synthetase 2 (AARS2) is a nuclear encoded mitochondrial tRNA synthetase that is responsible for charging of tRNA-Ala with alanine during mitochondrial translation. Homozygous or compound heterozygous mutations in the Aars2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a35fe158576e973b3194a920d4daf491
https://doi.org/10.1101/2023.05.18.540420
https://doi.org/10.1101/2023.05.18.540420
Autor:
Jacoba J Louw, Ricardo Nunes Bastos, Xiaowen Chen, Céline Verdood, Anniek Corveleyn, Yaojuan Jia, Jeroen Breckpot, Marc Gewillig, Hilde Peeters, Massimo M Santoro, Francis Barr, Koenraad Devriendt
Publikováno v:
PLoS Genetics, Vol 14, Iss 1, p e1007138 (2018)
Congenital or neonatal cardiomyopathies are commonly associated with a poor prognosis and have multiple etiologies. In two siblings, a male and female, we identified an undescribed type of lethal congenital restrictive cardiomyopathy affecting the ri
Externí odkaz:
https://doaj.org/article/cf21c2e3cdb24d1aaa1396695663f34b
Publikováno v:
Marshall Journal of Medicine, Vol 2, Iss 3, Pp 47-51 (2016)
Isolated left ventricular noncompaction cardiomyopathy (LVNC) is a rare congenital condition occurring due to arrest of myocardial compaction in the first trimester, resulting in a thin layer of compacted epicardium and thick hypertrabeculated myocar
Externí odkaz:
https://doaj.org/article/06c7047dffff48d7a3a1abbb95d7579f
Autor:
Jacqueline J.T. Marshall, Joshua J. Cull, Hajed O. Alharbi, May Zaw Thin, Susanna T.E. Cooper, Christopher Barrington, Hannah Vanyai, Thomas Snoeks, Bernard Siow, Alejandro Suáarez-Bonnet, Eleanor Herbert, Daniel J. Stuckey, Angus J.M. Cameron, Fabrice Prin, Andrew C. Cook, Simon L. Priestnall, Sonia Chotani, Owen J. L. Rackham, Daniel N. Meijles, Tim Mohun, Angela Clerk, Peter J. Parker
BackgroundThe protein kinase PKN2 is required for embryonic development, and PKN2 knockout mice die as a result of failure in expansion of mesoderm tissues, cardiac development and neural tube closure. In the adult, cardiomyocyte PKN2 and PKN1 (in co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3da3f19d1a8b0542a8afece9e9c2fa48
https://openaccess.sgul.ac.uk/id/eprint/114588/1/bcj-2022-0281.pdf
https://openaccess.sgul.ac.uk/id/eprint/114588/1/bcj-2022-0281.pdf
Publikováno v:
Archives of Cardiovascular Diseases Supplements. 15:221
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::743624103ea237390f2cd15138b92bd4
https://doi.org/10.1016/j.acvdsp.2023.03.094
https://doi.org/10.1016/j.acvdsp.2023.03.094
Publikováno v:
In Archives of Cardiovascular Diseases Supplements May 2023 15(2):221-221