Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype

Autor: Ana Margarida Medeiros, Ana Catarina Alves, Beatriz Miranda, Joana Rita Chora, Mafalda Bourbon, Quitéria Rato, Ana Catarina Gomes, Ana Cristina Ferreira, Ana Gaspar, Ana Margarida Marques, Ana Maria Garabal, Ana Paula Bogalho, Ana Rita Pereira, Anabela Raimundo, André Travessa, Andreia Lopes, António Afonso, António Furtado, António Guerra, António Monteiro, António Trindade, Armindo Ribeiro, Bernardo Dias Pereira, Bernardo Marques, Carla Laranjeira, Catarina Senra Moniz, Cecília Frutuoso, Cláudia Falcão Reis, Cláudia Rodrigues, Clementina Fernandes, Conceição Ferreira, Daniel Ferreira, Diogo Torres, Elisabete Martins, Elsa Gaspar, Fabiana Pimentel, Fernando Simões, Francisco Araújo, Francisco Silva, Goreti Lobarinhas, Graça Morais, Guida Gama, Guilherme Lourenço, Helena Mansilha, Helena Pereira, Heloísa Santos, Henedina Antunes, Inês Batista Gomes, Inês Colaço, Isabel Azevedo, Isabel Palma, João Anselmo, João Porto, João Ramos, João Sequeira Duarte, Jorge Pintado Alves, José Miguel Salgado, José Pereira de Moura, Leonor Sassetti, Lina Cardoso Ramos, Luísa Diogo Matos, Luísa Mota Vieira, Luísa Pires, Márcio de Moura, Margarida Bruges, Margarida Venâncio, Maria do Rosário Barroso, Maria João Virtuoso, Maria Luísa Gonçalves, Mário Martins Oliveira, Mendes Nunes, Miguel Costa, Miguel Mendes, Miguel Toscano Rico, Mónica Tavares, Natalina Miguel, Oana Moldovan, Olga Azevedo, Patrícia Lipari Pinto, Patrícia Pais, Patrícia Vasconcelos, Paula Garcia, Paula Martins, Pedro Marques da Silva, Piedade Lemos, Raquel Coelho, Raquel Gouveia da Silva, Raquel Ribeiro, Rita Jotta de Oliveira, Roberto Pinto, Sandra Pereira, Sérgio Ferreira Cristina, Sílvia Sequeira, Susana Correia, Tânia Vassalo, Tiago Pack, Vânia Martins, Vera Frazão Vieira

Publikováno v: Journal of Lipid Research, Vol 65, Iss 2, Pp 100490- (2024)

Familial hypercholesterolemia (FH) is a common genetic disorder of lipid metabolism caused by pathogenic/likely pathogenic variants in LDLR, APOB, and PCSK9 genes. Variants in FH-phenocopy genes (LDLRAP1, APOE, LIPA, ABCG5, and ABCG8), polygenic hype

Externí odkaz: https://doaj.org/article/68a8ff206df9455cbff0bf939698e1bb

Comparative study on the performance of different classification algorithms, combined with pre- and post-processing techniques to handle imbalanced data, in the diagnosis of adult patients with familial hypercholesterolemia.

Autor: João Albuquerque, Ana Margarida Medeiros, Ana Catarina Alves, Mafalda Bourbon, Marília Antunes

Publikováno v: PLoS ONE, Vol 17, Iss 6, p e0269713 (2022)

Familial Hypercholesterolemia (FH) is an inherited disorder of cholesterol metabolism. Current criteria for FH diagnosis, like Simon Broome (SB) criteria, lead to high false positive rates. The aim of this work was to explore alternative classificati

Externí odkaz: https://doaj.org/article/82bd2db36ed14cef832812d8819bb7ca

Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemia[S]

Autor: Ana Margarida Medeiros, Ana Catarina Alves, Pedro Aguiar, Mafalda Bourbon

Publikováno v: Journal of Lipid Research, Vol 55, Iss 5, Pp 947-955 (2014)

The distinction between a monogenic dyslipidemia and a polygenic/environmental dyslipidemia is important for the cardiovascular risk assessment, counseling, and treatment of these patients. The present work aims to perform the cardiovascular risk ass

Externí odkaz: https://doaj.org/article/4c7f1b567d0a41fb886b86174b2084a2

The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes

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.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f1e5c004a444a2e6f23358a4055c143
https://doi.org/10.1111/cge.13697

Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries

Autor: Martin Prøven Bogsrud, Albert Wiegman, Elodie Fastré, Tomáš Freiberger, Jeanine E. Roeters van Lennep, Anne De Leener, Olivier S. Descamps, Kirsten B. Holven, Steve E. Humphries, Vasiliki Mollaki, Michal Vrablík, Lukas Tichy, Hans Dieplinger, Harald Esterbauer, Marta Futema, Euridiki Drogari, Ana Margarida Medeiros, Susanne Greber-Platzer, Uma Ramaswami, Mafalda Bourbon

Publikováno v: Atherosclerosis, 319, 108-117. Elsevier Ireland Ltd
Atherosclerosis, Vol. 319, p. 108-117 (2021)

Background and aims: Familial hypercholesterolaemia (FH) is commonly caused by mutations in the LDLR, APOB or PCSK9 genes, with untreated mean low density lipoprotein-cholesterol (LDL-C) concentrations being elevated in APOB mutation carriers, even h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9ca2e1be952f46244c5d3eebc8850ae
https://pure.amc.nl/en/publications/comparison-of-the-mutation-spectrum-and-association-with-pre-and-post-treatment-lipid-measures-of-children-with-heterozygous-familial-hypercholesterolaemia-fh-from-eight-european-countries(ffdaf067-8c49-425c-a03d-6fa0d6ba5def).html