Results 61 to 70 of about 299,280 (207)
Molecular Genetics & Genomic MedicineBackground Familial hypercholesterolemia (MIM: PS143890) is a genetic disorder characterized by an increase in blood cholesterol. LDLR is one of the genes which their defect contributes to the disorder.
Yongjun Song +4 more
doaj +1 more source
Supravalvular and Valvular Aortic Stenosis in Heterozygous Familial Hypercholesterolemia [PDF]
Medical Principles and Practice, 2007 <i>Objectives:</i> To report calcified aortic stenosis due to hypercholesterolemia in two siblings. <i>Case Presentation and Intervention:</i> A 13-year-old boy with a history of dyspnea on exertion and a systolic murmur of aortic stenosis was referred to our center.
Sima, Rafeiyian +6 more
openaire +2 more sources
, 2002 The relation of peripheral flow-mediated vasodilation and coronary arterial calcium was studied in young patients with heterozygous familial hypercholesterolemia (FH) using high-resolution ultrasound and multi-detector computed tomography (MDCT).
Neunteufl, T +5 more
core +1 more source
Neuroprotection, EarlyView.Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji +4 more
wiley +1 more source
Evolocumab in Pediatric Heterozygous Familial Hypercholesterolemia [PDF]
New England Journal of Medicine, 2021 Daniel, Gaudet +2 more
openaire +3 more sources
Non‐Alzheimer Aβ deposits in the human CNS: Implications with hypoxia and related conditions
Brain Pathology, EarlyView.An Aβ deposit in a non‐Alzheimer's brain from an individual who experienced hypoxia/energy failure. Abstract We recently reported the deposition of Aβ in the frontal cortex of individuals who died of acute coronavirus disease 2019 (COVID‐19), or who did not have COVID‐19 but had respiratory distress, or infants with severe cardiac malformations.
Esma Karlovich +5 more
wiley +1 more source
, 2019 Supplemental Material, FH_ER_Supp_V4_(1) for Risk of Ischemic Stroke and Peripheral Arterial Disease in Heterozygous Familial Hypercholesterolemia: A Meta-Analysis by Leo E. Akioyamen, Jack V. Tu, Jacques Genest, Dennis T. Ko, Alexandre J. S.
Jacques Genest (451360) +6 more
core +1 more source
Clinical Genetics, EarlyView.Phenotype‐directed gene panel testing and opportunistic ACMG SF v3.3 screening identified distinct, complementary cardiovascular genetic risks in a Korean cohort. Panel testing achieved a 20.0% yield enriched for arrhythmia/cardiomyopathy genes, whereas opportunistic exome screening revealed a 5.6% yield dominated by TTN‐related cardiomyopathy and ...
Jihye You +3 more
wiley +1 more source
Family heterozygous hypercholesterolemia: a case report
, 2019 Іntroduction: Familial hypercholesterolemia (FH) is an autosomal dominant disorder, caused by the defect of the gene, encoding the structure and function of the receptor for the apoprotein B/E. Patients with FH are predisposed to premature development of
Ждан, Вячеслав Миколайович +9 more
core +1 more source
Cell Biochemistry and Function, Volume 44, Issue 11, November 2026.ABSTRACT Atherosclerosis is driven by coordinated changes in endothelial cells (ECs), macrophages, and vascular smooth muscle cells (VSMCs). Post‐translational modifications (PTMs), phosphorylation, acetylation, ubiquitination, SUMOylation, O‐GlcNAcylation, palmitoylation, ISGylation, and ADP‐ribosylation, integrate metabolic, inflammatory, and ...
Weiwei Jiang, Haiping Du
wiley +1 more source