[HTML][HTML] Genetic heterogeneity of familial hypercholesterolemia: repercussions for molecular diagnosis

MD Di Taranto, G Fortunato - International Journal of Molecular Sciences, 2023 - mdpi.com
Genetics of Familial Hypercholesterolemia (FH) is ascribable to pathogenic variants in
genes encoding proteins leading to an impaired LDL uptake by the LDL receptor (LDLR) …

[HTML][HTML] Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype

AM Medeiros, AC Alves, B Miranda, JR Chora… - Journal of Lipid …, 2024 - ASBMB
Familial hypercholesterolemia (FH) is a common genetic disorder of lipid metabolism
caused by pathogenic/likely pathogenic variants in LDLR, APOB, and PCSK9 genes …

[HTML][HTML] Spectrum of mutations in Italian patients with familial hypercholesterolemia: new results from the LIPIGEN study

A Pirillo, K Garlaschelli, M Arca, M Averna… - Atherosclerosis …, 2017 - Elsevier
Background Familial hypercholesterolemia (FH) is an autosomal dominant disease
characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of …

Variable expressivity and co‐occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy

AC Fahed, R Khalaf, R Salloum… - Molecular genetics & …, 2016 - Wiley Online Library
Background The familial inherited genetic disorder of lipoprotein metabolism affects more
than 10 million individuals around the world. Lebanon is one of the several endemic areas …

[HTML][HTML] Genetic determinants of inherited susceptibility to hypercholesterolemia–a comprehensive literature review

CS Paththinige, ND Sirisena… - Lipids in health and …, 2017 - Springer
Hypercholesterolemia is a strong determinant of mortality and morbidity associated with
cardiovascular diseases and a major contributor to the global disease burden. Mutations in …

A combined LDL receptor/LDL receptor adaptor protein 1 mutation as the cause for severe familial hypercholesterolemia

M Soufi, S Rust, M Walter, JR Schaefer - Gene, 2013 - Elsevier
Familial hypercholesterolemia (FH) results from impaired catabolism of plasma low density
lipoproteins (LDL), thus leading to high cholesterol, atherosclerosis, and a high risk of …

Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement

MD Di Taranto, C Giacobbe, D Palma… - Clinical …, 2021 - Wiley Online Library
Familial hypercholesterolemia (FH) is the most common genetic disease caused by variants
in LDLR, APOB, PCSK9 genes; it is characterized by high levels of LDL‐cholesterol and …

[HTML][HTML] The genetics and screening of familial hypercholesterolaemia

R Henderson, M O'Kane, V McGilligan… - Journal of biomedical …, 2016 - Springer
Familial Hypercholesterolaemia is an autosomal, dominant genetic disorder that leads to
elevated blood cholesterol and a dramatically increased risk of atherosclerosis. It is …

Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in …

I Tosi, P Toledo-Leiva, C Neuwirth, RP Naoumova… - Atherosclerosis, 2007 - Elsevier
Familial hypercholesterolaemia (FH) results from defective catabolism of low density
lipoproteins (LDL), leading to premature atherosclerosis and early coronary heart disease. It …

Genetic and molecular architecture of familial hypercholesterolemia

M Abifadel, C Boileau - Journal of internal medicine, 2023 - Wiley Online Library
Atherosclerotic cardiovascular disease is the leading cause of death globally. Despite its
important risk of premature atherosclerosis and cardiovascular disease, familial …