Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Marta Futema"'
Autor:
Joan K Morris, Reecha Sofat, Steve E Humphries, Marta Futema, Amand Floriaan Schmidt, Chris Finan, Jasmine Gratton
Publikováno v:
BMJ Public Health, Vol 1, Iss 1 (2023)
Background Most people with autosomal dominant familial hypercholesterolaemia (FH) remain undetected, which represents a missed opportunity for coronary heart disease prevention.Objective To evaluate the performance of two-stage adult population scre
Externí odkaz:
https://doaj.org/article/f5f751b85e134f0dabd4e4dc6a53c532
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Monogenic familial hypercholesterolaemia (FH) is an autosomal dominant disorder characterised by elevated low-density lipoprotein cholesterol (LDL-C) concentrations due to monogenic mutations in LDLR, APOB, PCSK9, and APOE. Some mutation-
Externí odkaz:
https://doaj.org/article/98131753e9034306837f78e86b2c37a1
Publikováno v:
Journal of Lipid Research, Vol 62, Iss , Pp 100139- (2021)
In the early 1980s, the Nobel Prize winning cellular and molecular work of Mike Brown and Joe Goldstein led to the identification of the LDL receptor gene as the first gene where mutations cause the familial hypercholesterolemia (FH) phenotype. We no
Externí odkaz:
https://doaj.org/article/d545b2046e9c4deca56e0644c9865f31
Publikováno v:
Journal of Lipid Research, Vol 62, Iss , Pp 100146- (2021)
Externí odkaz:
https://doaj.org/article/033145bc95954a859620d7b38baa6e0f
Autor:
Agnieszka Mickiewicz, Marta Futema, Agnieszka Ćwiklinska, Agnieszka Kuchta, Maciej Jankowski, Mariusz Kaszubowski, Magdalena Chmara, Bartosz Wasąg, Marcin Fijałkowski, Miłosz Jaguszewski, Steve E. Humphries, Marcin Gruchała
Publikováno v:
Life, Vol 10, Iss 5, p 73 (2020)
Background: The monogenic defect in familial hypercholesterolemia (FH) is detected in ∼40% of cases. The majority of mutation-negative patients have a polygenic cause of high LDL-cholesterol (LDL-C). We sought to investigate whether the underlying
Externí odkaz:
https://doaj.org/article/1e69eae62feb4587b2803a5578a6a9f0
Autor:
Jasmine Gratton, Marta Futema, Steve E. Humphries, Aroon D. Hingorani, Chris Finan, A. Floriaan Schmidt
2.TEXT ABSTRACT AND KEYWORDSBackground and AimsPeople with monogenic familial hypercholesterolaemia (FH) are at an increased risk of premature coronary heart disease and death. Currently there is no population screening strategy for FH, and most carr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b9c0399da61ba45b307123ad9fcb300
https://doi.org/10.1101/2022.06.17.22276540
https://doi.org/10.1101/2022.06.17.22276540
Autor:
Jasmine Gratton, Marta Futema, Steve E. Humphries, Aroon D. Hingorani, Chris Finan, Amand F. Schmidt
Publikováno v:
JACC: Advances. :100333
Autor:
Joel T. Haas, Jan Albert Kuivenhoven, Justina C. Wolters, Andrzej J. Rzepiela, Mathilde Varret, Ann Verhaegen, Valérie Carreau, Szymon Stoma, Anne Philippi, Alaa Othman, Jerome Robert, N. Dalila, Belle V. van Rosmalen, An Verrijken, Arnold von Eckardstein, Bart van de Sluis, Silvija Radosavljevic, Paolo Zanoni, Simon F. Norrelykke, Roger Meier, M. Yalcinkaya, Bart Staels, Andreas Geier, Lucia Rohrer, Michael Stebler, Michele Visentin, Antoine Rimbert, Catherine Boileau, Antonio Gallo, Melinde Wijers, Nicolette C. A. Huijkman, Steve E. Humphries, Jonas Weyler, Freerk van Dijk, Michaela Keel, Srividya Velagapudi, Jean-Pierre Rabès, Marieke Smit, Anne Tybjærg-Hansen, Adriaan van der Graaf, Luisa Vonghia, Yara Abou-Khalil, Sven Francque, Grigorios Panteloglou, Marta Futema, Luc Van Gaal
Publikováno v:
Zanoni, P, Panteloglou, G, Othman, A, Haas, J T, Meier, R, Rimbert, A, Futema, M, Khalil, Y A, Norrelykke, S F, Rzepiela, A J, Stoma, S, Stebler, M, Van Dijk, F, Wijers, M, Wolters, J C, Dalila, N, Huijkman, N C A, Smit, M, Gallo, A, Carreau, V, Philippi, A, Rabès, J P, Boileau, C, Visentin, M, Vonghia, L, Weyler, J, Francque, S, Verrijken, A, Verhaegen, A, Van Gaal, L, Van Der Graaf, A, Van Rosmalen, B V, Robert, J, Velagapudi, S, Yalcinkaya, M, Keel, M, Radosavljevic, S, Geier, A, Tybjaerg-Hansen, A, Varret, M, Rohrer, L, Humphries, S E, Staels, B, Van De Sluis, B, Kuivenhoven, J A & Von Eckardstein, A 2022, ' Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome ', Circulation Research, vol. 130, no. 1, pp. 80-95 . https://doi.org/10.1161/CIRCRESAHA.120.318141
Circulation Research
Circulation Research, 2022, 130 (1), pp.80-95. ⟨10.1161/CIRCRESAHA.120.318141⟩
Circulation research
Circulation research, 130(1), 80-95. LIPPINCOTT WILLIAMS & WILKINS
Circulation Research
Circulation Research, 2022, 130 (1), pp.80-95. ⟨10.1161/CIRCRESAHA.120.318141⟩
Circulation research
Circulation research, 130(1), 80-95. LIPPINCOTT WILLIAMS & WILKINS
Background: The LDLR (low-density lipoprotein receptor) in the liver is the major determinant of LDL-cholesterol levels in human plasma. The discovery of genes that regulate the activity of LDLR helps to identify pathomechanisms of hypercholesterolem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e7252f24e599e74af7d4245ca33b8f0
https://curis.ku.dk/portal/da/publications/posttranscriptional-regulation-of-the-human-ldl-receptor-by-the-u2spliceosome(80ba810e-1e80-4fb5-8616-1532e1482dba).html
https://curis.ku.dk/portal/da/publications/posttranscriptional-regulation-of-the-human-ldl-receptor-by-the-u2spliceosome(80ba810e-1e80-4fb5-8616-1532e1482dba).html
Publikováno v:
Frontiers in genetics. 13
Background: Monogenic familial hypercholesterolaemia (FH) is an autosomal dominant disorder characterised by elevated low-density lipoprotein cholesterol (LDL-C) concentrations due to monogenic mutations in LDLR, APOB, PCSK9, and APOE. Some mutation-
Autor:
Cibelle Mariano, Steve E. Humphries, Marta Futema, Joana Rita Chora, Ana Margarida Medeiros, Mafalda Bourbon, Ana Catarina Alves, Marília Antunes
Publikováno v:
Clinical Genetics. 97:457-466
Familial Hypercholesterolaemia (FH) is a monogenic disorder characterised by high LDL-C concentrations and increased cardiovascular risk. However, in clinically defined FH cohorts worldwide, an FH-causing variant is only found in 40-50% of the cases.