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In silico and Functional Studies for Classification of EPAS1/HIF2A Genetic Variants Identified in Patients with Erythrocytosis
Valéna Karaghiannis
,
Darko Maric
,
Céline Garrec
,
Nada Maaziz
,
Alexandre Buffet
,
et al.
Journal articles
hal-04031832v1
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Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia
Antoine Rimbert
,
Xavier Vanhoye
,
Dramane Coulibaly
,
Marie Marrec
,
Matthieu Pichelin
,
et al.
Journal articles
hal-03105646v1
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Large HDL particles negatively associate with leukocyte counts independent of cholesterol efflux capacity: A cross sectional study in the population-based LifeLines DEEP cohort
Anouk Groenen
,
Venetia Bazioti
,
Isabelle van Zeventer
,
Lianmin Chen
,
Hilde Groot
,
et al.
Journal articles
hal-04060061v1
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Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome
Paolo Zanoni
,
Grigorios Panteloglou
,
Alaa Othman
,
Joël T. Haas
,
Roger Meier
,
et al.
Journal articles
hal-03554168v1
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Genetic Inhibition of PCSK9 and Liver Function
Antoine Rimbert
,
Sarra Smati
,
Wieneke Dijk
,
Cedric Le May
,
Bertrand Cariou
Journal articles
hal-03100949v1
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The Future of Lipid-Lowering Therapy
Willemien Van Zwol
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Antoine Rimbert
,
Jan Kuivenhoven
Journal articles
hal-02422745v1
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FACS-assisted CRISPR-Cas9 genome editing of human induced pluripotent stem cells
Amandine Caillaud
,
Antoine Lévêque
,
Aurélie Thédrez
,
Aurore Girardeau
,
Robin Canac
,
et al.
Journal articles
hal-04060050v1
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Loss of hepatic SMLR1 causes hepatosteatosis and protects against atherosclerosis due to decreased hepatic VLDL secretion
Willemien van Zwol
,
Antoine Rimbert
,
Justina Wolters
,
Marieke Smit
,
Vincent Bloks
,
et al.
Journal articles
hal-04060059v1
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Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia
Wieneke Dijk
,
Mathilde Di-Filippo Charcosset
,
Sander Kooijman
,
Robin Van Eenige
,
Antoine Rimbert
,
et al.
Journal articles
inserm-03831077v1
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APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants
Xavier Vanhoye
,
Alexandre Janin
,
Amandine Caillaud
,
Antoine Rimbert
,
Fabienne Venet
,
et al.
Journal articles
hal-03659209v1
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Generation of a GPR146 knockout human induced pluripotent stem cell line (ITXi001-A-1)
Lise Bray
,
Amandine Caillaud
,
Aurore Girardeau
,
Murielle Patitucci
,
Cédric Le May
,
et al.
Journal articles
hal-03869113v1
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Intracranial Aneurysm Classifier Using Phenotypic Factors: An International Pooled Analysis
Sandrine Morel
,
Isabel Hostettler
,
Georg Spinner
,
Romain Bourcier
,
Joanna Pera
,
et al.
Journal articles
hal-04060055v1
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Mendelian randomization while jointly modeling cis genetics identifies causal relationships between gene expression and lipids
Adriaan van Der Graaf
,
Annique Claringbould
,
Antoine Rimbert
,
Harm-Jan Westra
,
Yang Li
,
et al.
Journal articles
hal-02970789v1
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GPR146 Deficiency Protects against Hypercholesterolemia and Atherosclerosis
Haojie Yu
,
Antoine Rimbert
,
Alice Palmer
,
Takafumi Toyohara
,
Yulei Xia
,
et al.
Journal articles
hal-02422749v1
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Routine use of statins and increased COVID-19 related mortality in inpatients with type 2 diabetes: Results from the CORONADO study
Bertrand Cariou
,
Thomas Goronflot
,
Antoine Rimbert
,
Sandrine Boullu
,
Cedric Le May
,
et al.
Journal articles
hal-03100948v1
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Taking One Step Back in Familial Hypercholesterolemia
Natalia Loaiza
,
Merel Hartgers
,
Laurens Reeskamp
,
Jan-Willem Balder
,
Antoine Rimbert
,
et al.
Journal articles
hal-02468286v1
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The Genetic Spectrum of Familial Hypertriglyceridemia in Oman
Khalid Al-Waili
,
Khalid Al-Rasadi
,
Muna Al-Bulushi
,
Mohammed Habais
,
Abdullah Al-Mujaini
,
et al.
Journal articles
hal-04060049v1
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Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia
Antoine Rimbert
,
Matthieu Pichelin
,
Simon Lecointe
,
Marie Marrec
,
Solena Le Scouarnec
,
et al.
Journal articles
hal-01831745v1
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Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?
Nada Maaziz
,
Céline Garrec
,
Fabrice Airaud
,
Victor Bobée
,
Nathalie Contentin
,
et al.
Journal articles
hal-04208496v1
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LDL lowering effect of PCSK9 inhibition is reduced in women
Veronika Myasoedova
,
Antoine Rimbert
,
Marina Camera
,
Cedric Le May
,
Romain Capoulade
,
et al.
Journal articles
hal-04212334v1
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A novel role for GalNAc-T2 dependent glycosylation in energy homeostasis
Cristy R.C. Verzijl
,
Federico Oldoni
,
Natalia Loaiza
,
Justina Wolters
,
Antoine Rimbert
,
et al.
Journal articles
hal-04060053v1
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PCSK9 regulates the NODAL signaling pathway and cellular proliferation in hiPSCs
Meryl Roudaut
,
Salam Idriss
,
Amandine Caillaud
,
Aurore Girardeau
,
Antoine Rimbert
,
et al.
Journal articles
hal-03451184v1
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Hepatic SREBP signaling requires SPRING to govern systemic lipid metabolism in mice and humans
Sebastian Hendrix
,
Jenina Kingma
,
Roelof Ottenhoff
,
Masoud Valiloo
,
Monika Svecla
,
et al.
Journal articles
hal-04208487v1
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Genetics of syndromic and non-syndromic mitral valve prolapse
Thierry Le Tourneau
,
Jean Mérot
,
Antoine Rimbert
,
Solena Le Scouarnec
,
Vincent Probst
,
et al.
Journal articles
hal-01833921v1
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