NEW STRATEGIES FOR THE EARLY DIAGNOSIS, RISK STRATIFICATION AND CO-MANAGEMENT OF FAMILIAL HYPERCHOLESTEROLEMIA

CORDIS proporciona enlaces a los documentos públicos y las publicaciones de los proyectos de los programas marco HORIZONTE.

Los enlaces a los documentos y las publicaciones de los proyectos del Séptimo Programa Marco, así como los enlaces a algunos tipos de resultados específicos, como conjuntos de datos y «software», se obtienen dinámicamente de OpenAIRE .

Publicaciones

EFFECT OF HIGH INTENSITY STATIN MEDICATION ON CIRCULATING FOAMY MONOCYTES IN HEALTHY INDIVIDUALS

Autores: Siina Pamilo, Iris Lähdeniemi, Anssi Mykkänen, Marc Sunden, Mikko Neuvonen, Tamara Alagirova, Mikko Niemi, Simon Pfisterer
Publicado en: Atherosclerosis
Editor: Elsevier

PO99 Re-classification of LDLR Variants through High-Throughput Functional Characterisation: Advancing Diagnosis in Familial Hypercholesterolaemia

Autores: Mohammad Majharul Islam, Ana Catarina Alves, Simon Pfisterer, Mafalda Bourbon
Publicado en: European Journal of Preventive Cardiology, 2026
Editor: European Journal of Preventive Cardiology

EXPANSION OF IN-DEPTH FUNCTIONAL CHARACTERIZATION OF LDLR GENE VARIANTS AND IMPLICATIONS FOR CARDIOVASCULAR RISK ASSESSMENT

Autores: Zohreh Pourkarami, Faezeh Saaeyekta, Mohammad Islam, Joana Chora, Secil Beyraktar, Sofia Zeferino, Mafalda Bourbon, Simon Pfisterer, Ana Catarina Alves
Publicado en: Atherosclerosis
Editor: Elsevier

CHARACTERIZATION OF LIPID DROPLETS AND INFLAMMATION IN FOAMY MONOCYTES IN SEVERE HYPERTRIGLYCERIDEMIA

Autores: Jing Xiao, Veronica O’Brien, Benjamin Litchfield, Feng Gao, Xueying Peng, Zeqin Lian, Arsalan Hamid, Chao Cheng, Yanming Li, Ying H Shen, Xinchun Pi, Tamara main Alagirova, Christie M Ballantyne, Simon Pfisterer, Huaizhu Wu
Publicado en: Journal of the American College of Cardiology, 2025
Editor: Elsevier

c-Rel–Mediated Lipid Accumulation and Inflammatory Activation in Monocytes in Hypertriglyceridemia

Autores: Jing Xiao, Veronica OBrien, Benjamin Litchfield, Feng Gao, Arsalan Hamid, Cheng Chao, Yanming Li, Ying Shen, Xinchun Pi, Tamara Alagirova, Iris Lahdeniemi, Ron Hoogeveen, Christie Ballantyne, Simon Pfisterer, Huaizhu Wu
Publicado en: Circulation, 2025
Editor: Lippincott Williams & Wilkins

UTILIZATION OF FUNCTIONAL DATA FOR LDLR VARIANT CLASSIFICATION: COMPARATIVE INSIGHTS FROM HIGH-CONTENT MICROSCOPY AND FLOW CYTOMETRY ASSAYS

Autores: Mohammad Islam, Ana Catarina Alves, Mafalda Bourbon, Simon Pfisterer
Publicado en: Atherosclerosis
Editor: Elsevier

Linking cellular lipid trafficking profiles of individuals to the outcomes of statin treatment in the general population

Autores: S Pfisterer, IH Hlushchenko, MMI Islam, MT Tamlander, SR Ripatti
Publicado en: European Heart Journal, 2025
Editor: Oxford University Press

A-231 A novel assay measuring leukocyte lipid uptake and storage for treatment optimization in dyslipidemia and cardiovascular risk assessment

Autores: Tamara Alagirova, Iryna Hlushchenko, Mohammad Majharul Islam, Max Tamlander, Samuli Ripatti, Tamara Alagirova, Simon Georg Pfisterer
Publicado en: Clinical chemistry, 2025
Editor: Oxford University Press

Lipoproteins modulate the uptake and biological function of cationic cell-penetrating peptides across the animal lineage

Autores: Sovanny R. Taylor, Temilade V. Oluwasesin, Muthu Raj Salaikumaran, Borna Novak, Adam Briner, Roshan Ailani, Pilar I. Andrade, Paulo L. Onuchic, Olivia M. S. Carmo, Garam Kim, Jacob A. Blum, Mason Galliver, Catherine Stuart, Nicolas Mendez, Vedant Patel, Guo-Teng Liang, Ronan O’Connell, Mohammad Majharul Islam, Zeinab Kashaniasl, Maria Jose Villar, Yingqiong Cao, Xi-Lei Zeng, Lucas Porta, Haoyun Yang, Gabe Hohensee, Misha Kavalur, Rachel N. Arey, Sarah E. Blutt, Ewan K. S. McRae, Radbod Darabi, Lilei Zhang, Kathryn Jones, Simon G. Pfisterer, Chad Johnston, Jeroen Pollet, Mirian A. F. Hayashi, Aaron D. Gitler, Hyun-Kyoung Lee, Alex S. Holehouse, Steven J. Ludtke, Steven Boeynaems
Publicado en: 2026
Editor: openRxiv
DOI: 10.64898/2026.08.23.746575

Functional data for <i>LDLR</i> variant classification: comparative insights from high-content microscopy and flow cytometry assays

Autores: Mohammad Majharul Islam, Ana Catarina Alves, Rafael Graça, Joana Rita Chora, Mafalda Bourbon, Simon G. Pfisterer
Publicado en: 2026
Editor: openRxiv
DOI: 10.64898/2026.05.09.26352817

Update on genetics of familial hypercholesterolemia

Autores: Tomas Freiberger
Publicado en: Current Opinion in Lipidology, Edición 37, 2026, ISSN 0957-9672
Editor: Ovid Technologies (Wolters Kluwer Health)
DOI: 10.1097/MOL.0000000000001027

The functional landscape of coding variation in the familial hypercholesterolemia gene <i>LDLR</i>

Autores: Daniel R. Tabet, Atina G. Coté, Megan C. Lancaster, Jochen Weile, Ashyad Rayhan, Iosifina Fotiadou, Nishka Kishore, Roujia Li, Da Kuang, Jennifer J. Knapp, Carmela S. Carrero, Olivia Taverniti, Anna Axakova, Jack M. P. Castelli, Mohammad M. Islam, Shahin Sowlati-Hashjin, Aanshi Gandhi, Ranim Maaieh, Michael Garton, Kenneth Matreyek, Douglas M. Fowler, Mafalda Bourbon, Simon G. Pfisterer, Andrew M. Glazer, Brett M. Kroncke, Victoria N. Parikh, Euan A. Ashley, Joshua W. Knowles, Melina Claussnitzer, Elizabeth T. Cirulli, Robert A. Hegele, Dan M. Roden, Calum A. MacRae, Frederick P. Roth
Publicado en: Science, Edición 391, 2025, ISSN 0036-8075
Editor: American Association for the Advancement of Science (AAAS)
DOI: 10.1126/SCIENCE.ADY7186

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