Amandine Caillaud
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View article: <scp>Human induced pluripotent stem cells</scp>‐derived liver organoids grown on a Biomimesys® hyaluronic acid‐based hydroscaffold as a new model for studying human lipoprotein metabolism
<span>Human induced pluripotent stem cells</span>‐derived liver organoids grown on a Biomimesys® hyaluronic acid‐based hydroscaffold as a new model for studying human lipoprotein metabolism Open
The liver plays a key role in the metabolism of lipoproteins, controlling both production and catabolism. To accelerate the development of new lipid‐lowering therapies in humans, it is essential to have a relevant in vitro study model avai…
View article: Generation of an induced pluripotent stem cell line (ITXi012-A) from a patient with genetically determined high-lipoprotein(a) plasma levels
Generation of an induced pluripotent stem cell line (ITXi012-A) from a patient with genetically determined high-lipoprotein(a) plasma levels Open
Elevated circulating lipoprotein(a) (Lp(a)) is a genetically determined risk factor for coronary artery disease and aortic valve stenosis (Tsimikas, 2017). Importantly, the LPA gene, which encodes the apolipoprotein(a) (protein-component o…
View article: Hepatic retromer is essential for systemic cholesterol homeostasis by regulating lysosomal cholesterol metabolism
Hepatic retromer is essential for systemic cholesterol homeostasis by regulating lysosomal cholesterol metabolism Open
Background Disturbed hepatic cholesterol homeostasis is associated with multiple diseases, including atherosclerotic cardiovascular disease and metabolic dysfunction– associated steatotic liver disease. The endo-lysosomal system is essenti…
View article: Characterization of genetic variants in the <i>EGLN1/PHD2</i> gene identified in a European collection of patients with erythrocytosis
Characterization of genetic variants in the <i>EGLN1/PHD2</i> gene identified in a European collection of patients with erythrocytosis Open
Hereditary erythrocytosis is a rare hematologic disorder characterized by an excess of red blood cell production. Here we describe a European collaborative study involving a collection of 2,160 patients with erythrocytosis sequenced in ten…
View article: FACS-assisted CRISPR-Cas9 genome editing of human induced pluripotent stem cells
FACS-assisted CRISPR-Cas9 genome editing of human induced pluripotent stem cells Open
View article: Identification of a Gain-of-Function <i>LIPC</i> Variant as a Novel Cause of Familial Combined Hypocholesterolemia
Identification of a Gain-of-Function <i>LIPC</i> Variant as a Novel Cause of Familial Combined Hypocholesterolemia Open
Background: Atherosclerotic cardiovascular disease is the main cause of mortality worldwide and is strongly influenced by circulating low-density lipoprotein (LDL) cholesterol levels. Only a few genes causally related to plasma LDL cholest…
View article: Variants in the <i>GPR146</i> Gene Are Associated With a Favorable Cardiometabolic Risk Profile
Variants in the <i>GPR146</i> Gene Are Associated With a Favorable Cardiometabolic Risk Profile Open
Background: In mice, GPR146 (G-protein–coupled receptor 146) deficiency reduces plasma lipids and protects against atherosclerosis. Whether these findings translate to humans is unknown. Methods: Common and rare genetic variants in the GPR…
View article: Identification of a gain-of-function LIPC variant as a novel cause of familial combined hypocholesterolemia
Identification of a gain-of-function LIPC variant as a novel cause of familial combined hypocholesterolemia Open
View article: APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants
APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants Open
Hypobetalipoproteinemia is characterized by LDL-cholesterol and apolipoprotein B (apoB) plasma levels below the fifth percentile for age and sex. Familial hypobetalipoproteinemia (FHBL) is mostly caused by premature termination codons in t…
View article: Generation of a GPR146 knockout human induced pluripotent stem cell line (ITXi001-A-1)
Generation of a GPR146 knockout human induced pluripotent stem cell line (ITXi001-A-1) Open
View article: Generation of human induced pluripotent stem cell lines from four unrelated healthy control donors carrying European genetic background
Generation of human induced pluripotent stem cell lines from four unrelated healthy control donors carrying European genetic background Open
Four human induced pluripotent stem cell (hiPSC) lines have been generated from healthy control European donors, and validated. This resource represents a useful tool for stem cell-based research, as references for developmental studies an…
View article: Generation of three human induced pluripotent stem cell lines with IRX5 knockout and knockin genetic editions using CRISPR-Cas9 system
Generation of three human induced pluripotent stem cell lines with IRX5 knockout and knockin genetic editions using CRISPR-Cas9 system Open
Studies on animal models have shown that Irx5 is an important regulator of cardiac development and that it regulates ventricular electrical repolarization gradient in the adult heart. Mutations in IRX5 have also been linked in humans to ca…
View article: PCSK9 regulates the NODAL signaling pathway and cellular proliferation in hiPSCs
PCSK9 regulates the NODAL signaling pathway and cellular proliferation in hiPSCs Open
Proprotein convertase subtilisin kexin type 9 (PCSK9) is a key regulator of low-density lipoprotein (LDL) cholesterol metabolism and the target of lipid-lowering drugs. PCSK9 is mainly expressed in hepatocytes. Here, we show that PCSK9 is …
View article: Les organoïdes hépatiques
Les organoïdes hépatiques Open
L’étude et la compréhension de l’organogenèse du foie ont permis le développement de protocoles de différenciation des cellules souches pluripotentes afin de pallier le manque de cellules primaires, offrant ainsi une source quasi illimitée…
View article: A dominant vimentin variant causes a rare syndrome with premature aging
A dominant vimentin variant causes a rare syndrome with premature aging Open
View article: Urine-derived cells provide a readily accessible cell type for feeder-free mRNA reprogramming
Urine-derived cells provide a readily accessible cell type for feeder-free mRNA reprogramming Open
View article: Urine-sample-derived human induced pluripotent stem cells as a model to study PCSK9-mediated autosomal dominant hypercholesterolemia
Urine-sample-derived human induced pluripotent stem cells as a model to study PCSK9-mediated autosomal dominant hypercholesterolemia Open
Proprotein convertase subtilisin kexin type 9 (PCSK9) is a critical modulator of cholesterol homeostasis. Whereas PCSK9 gain-of-function (GOF) mutations are associated with autosomal dominant hypercholesterolemia (ADH) and premature athero…
View article: Toward Personalized Medicine: Using Cardiomyocytes Differentiated From Urine‐Derived Pluripotent Stem Cells to Recapitulate Electrophysiological Characteristics of Type 2 Long QT Syndrome
Toward Personalized Medicine: Using Cardiomyocytes Differentiated From Urine‐Derived Pluripotent Stem Cells to Recapitulate Electrophysiological Characteristics of Type 2 Long QT Syndrome Open
Background Human genetically inherited cardiac diseases have been studied mainly in heterologous systems or animal models, independent of patients' genetic backgrounds. Because sources of human cardiomyocytes ( CM s) are extremely limited,…