Zobrazeno 1 - 10
of 38
pro vyhledávání: '"FH, familial hypercholesterolemia"'
Autor:
Samantha K. Sarkar, Angela Matyas, Ikhuosho Asikhia, Zhenkun Hu, Mia Golder, Kaitlyn Beehler, Tanja Kosenko, Thomas A. Lagace
Publikováno v:
Frontiers in Physiology, Vol 13 (2022)
Proprotein convertase subtilisin/kexin type-9 (PCSK9) is a secreted protein that binds and mediates endo-lysosomal degradation of low-density lipoprotein receptor (LDLR), limiting plasma clearance of cholesterol-rich LDL particles in liver. Gain-of-f
Externí odkaz:
https://doaj.org/article/5b011592ba30443bbae7dc2981011534
Autor:
Sonia Arrasate, Kepa B. Uribe, Unai Galicia-Garcia, Shifa Jebari-Benslaiman, Helena Ostolaza, César Martín, Fernando Civeira, Humberto González-Díaz, Ana Cenarro, José Angel Fernández-Higuero, Asier Larrea-Sebal, Asier Benito-Vicente
Publikováno v:
JACC: Basic to Translational Science
Visual Abstract
Highlights • A machine-learning model has been developed to improve accuracy on predicting the activity of missense LDLr mutations. • ClinVar was used as database, and the model function was defined by using specific characte
Highlights • A machine-learning model has been developed to improve accuracy on predicting the activity of missense LDLr mutations. • ClinVar was used as database, and the model function was defined by using specific characte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c1df87306bc7123442baec15397b51f
http://europepmc.org/articles/PMC8617597
http://europepmc.org/articles/PMC8617597
Autor:
Larrea-Sebal, A., Benito-Vicente, A., Fernandez-Higuero, J.A., Jebari-Benslaiman, S., Galicia-Garcia, U., Uribe, K.B., Cenarro, A., Ostolaza, H., Civeira, F., Arrasate, S., González-Díaz, H., Martín, C.
Publikováno v:
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
instname
Untreated familial hypercholesterolemia (FH) leads to atherosclerosis and early cardiovascular disease. Mutations in the low-density lipoprotein receptor (LDLr) gene constitute the major cause of FH, and the high number of mutations already described
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::938db6c0fcc9b6a2969af7a8865bdab6
http://hdl.handle.net/10261/311418
http://hdl.handle.net/10261/311418
Autor:
Nabil G. Seidah
Publikováno v:
Journal of Lipid Research
Journal of Lipid Research, Vol 62, Iss, Pp 100130-(2021)
Journal of Lipid Research, Vol 62, Iss, Pp 100130-(2021)
In 2003 the sequences of mammalian PCSK9 were reported. Radiolabeling pulse-chase analyses demonstrated that PCSK9 was synthesized as a zymogen (proPCSK9) that undergoes autocatalytic cleavage in the endoplasmic reticulum. Distinct from the other pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa9b1dcccbf273c1836a23142dd023f3
http://europepmc.org/articles/PMC8551645
http://europepmc.org/articles/PMC8551645
Akademický článek
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Autor:
George Karatasakis, George Athanassopoulos, Iakovos Armenis, Vasiliki Vartela, Konstantinos Makrilakis, Dimitra Leivadarou, Sophie Mavrogeni, G. Kolovou, Despina Perrea, Konstantinos Toutouzas
Publikováno v:
International Journal of Cardiology Hypertension
International Journal of Cardiology. Hypertension, Vol 9, Iss, Pp 100083-(2021)
International Journal of Cardiology. Hypertension, Vol 9, Iss, Pp 100083-(2021)
Background Heterozygous familial hypercholesterolemia (heFH) is a genetic disorder leading to premature coronary artery disease (CAD). We hypothesized that the subclinical pathophysiologic consequences of hypercholesterolemia may be detected before t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d1265b217a77e322ac8c7cd9431f59a
http://europepmc.org/articles/PMC8167294
http://europepmc.org/articles/PMC8167294
Autor:
Dirk J. Blom, César Martín, Kévin Chemello, Gilles Lambert, Antonio Gallo, Javier García-Nafría
Publikováno v:
Addi. Archivo Digital para la Docencia y la Investigación
instname
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Journal of Lipid Research
Journal of Lipid Research, 2021, pp.100062. ⟨10.1016/j.jlr.2021.100062⟩
Journal of Lipid Research, Vol 62, Iss, Pp 100062-(2021)
Journal of Lipid Research, American Society for Biochemistry and Molecular Biology, 2021, pp.100062. ⟨10.1016/j.jlr.2021.100062⟩
Addi: Archivo Digital para la Docencia y la Investigación
Universidad del País Vasco
instname
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Journal of Lipid Research
Journal of Lipid Research, 2021, pp.100062. ⟨10.1016/j.jlr.2021.100062⟩
Journal of Lipid Research, Vol 62, Iss, Pp 100062-(2021)
Journal of Lipid Research, American Society for Biochemistry and Molecular Biology, 2021, pp.100062. ⟨10.1016/j.jlr.2021.100062⟩
Addi: Archivo Digital para la Docencia y la Investigación
Universidad del País Vasco
Familial hypercholesterolemia (FH) is one of the most common genetic disorders in humans. It is an extremely atherogenic metabolic disorder characterized by lifelong elevations of circulating LDL-C levels often leading to premature cardiovascular eve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44447337b377c6d9f787e9f7ad596c58
http://hdl.handle.net/10810/51139
http://hdl.handle.net/10810/51139
Autor:
Gilbert R. Thompson
Publikováno v:
Journal of Lipid Research, Vol 62, Iss, Pp 100036-(2021)
Journal of Lipid Research
Journal of Lipid Research
After training as a gastroenterologist in the UK, the author became interested in lipidology while he was a research fellow in the USA and switched careers after returning home. Together with Nick Myant, he introduced the use of plasma exchange to tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae0175942dc409178c4090da615ec064
http://www.sciencedirect.com/science/article/pii/S002222752100016X
http://www.sciencedirect.com/science/article/pii/S002222752100016X
Autor:
Robert S. Rosenson
Publikováno v:
Journal of Lipid Research, Vol 62, Iss, Pp 100060-(2021)
Journal of Lipid Research
Journal of Lipid Research
Familial hypercholesterolemia (FH), an autosomal dominant disorder of LDL metabolism that is characterized by elevated LDL cholesterol, is commonly encountered in patients with atherosclerotic coronary heart disease. Combinations of cholesterol lower
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91ba8f82481a6523dc9ab4793ce9944e
http://www.sciencedirect.com/science/article/pii/S0022227521000420
http://www.sciencedirect.com/science/article/pii/S0022227521000420
Autor:
Eftihia Sbarouni
Publikováno v:
Hellenic Journal of Cardiology
The perception that women represent a low risk population for cardiovascular (CV) disease (CVD) needs to be reconsidered. Starting from risk factors, women are more likely to be susceptible to unhealthy behaviors and risk factors that have different
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d41406b17132702335bacc0b9b7524b6
https://pubmed.ncbi.nlm.nih.gov/33610753
https://pubmed.ncbi.nlm.nih.gov/33610753