Article

iPSC-Derived Endothelial Cells Reveals LDLR-Dysfunction and Dysregulated Gene Expression Profiles in Familial Hypercholesterolemia

2023-11-08

Abstract excerpt

Defects in low-density lipoprotein receptor (LDLR) are associated with familial hypercholesterolemia (FH), manifested by atherosclerosis and cardiovascular disease. Defective LDLR in hepatocytes leads to increased blood cholesterol level that damage vascular cells, especially endothelial cells, through oxidative stress and inflammation. However, the distinctions between endothelial cells from individuals with norm...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 5a0cf40b-c596-5637-8521-de8de11bde0f
DOI: 10.20944/preprints202311.0526.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

iPSC-Derived Endothelial Cells Reveals LDLR-Dysfunction and Dysregulated Gene Expression Profiles in Familial HypercholesterolemiaDOI 10.20944/preprints202311.0526.v1Read

iPSC-Derived Endothelial Cells Reveal LDLR Dysfunction and Dysregulated Gene Expression Profiles in Familial HypercholesterolemiaSemantic proximity Read

Induced pluripotent stem cell line ICGi037-A, obtained by reprogramming peripheral blood mononuclear cells from a patient with familial hypercholesterolemia due to heterozygous p.Trp443Arg mutations in LDLR.Semantic proximity Read

Cohort Generation and Characterization of Patient-Specific Familial Hypercholesterolemia Induced Pluripotent Stem Cells.Semantic proximity Read

Induced pluripotent stem cell line ICGi038-A, obtained by reprogramming peripheral blood mononuclear cells from a patient with familial hypercholesterolemia due to compound heterozygous c.1246C > T/c.940 + 3_940 + 6del mutations in LDLR.Semantic proximity Read

JD induced pluripotent stem cell-derived hepatocytes faithfully recapitulate the pathophysiology of familial hypercholesterolemia.Semantic proximity Read

Generation of two familial hypercholesterolemia patient-specific induced pluripotent stem cell lines harboring heterozygous mutations in the LDLR gene.Semantic proximity Read

Generation of Human Liver Chimeric Mice with Hepatocytes from Familial Hypercholesterolemia Induced Pluripotent Stem Cells.Semantic proximity Read

Functional interrogation of cellular Lp(a) uptake by genome-scale CRISPR screeningSemantic proximity Read

CRISPR correction of a homozygous low‐density lipoprotein receptor mutation in familial hypercholesterolemia induced pluripotent stem cellsSemantic proximity Read

Identification of an LDLR variant in a Chinese familial hypercholesterolemia and its relation to ROS/NLRP3-Mediated pyroptosis in hepatic cellsSemantic proximity Read

Transgelin: a new gene involved in LDL endocytosis identified by a genome-wide CRISPR-Cas9 screenSemantic proximity Read

Systematic elucidation of genetic mechanisms underlying cholesterol uptakeSemantic proximity Read