Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype
Familial hypercholesterolemia (FH) is a common genetic disorder of lipid metabolism
caused by pathogenic/likely pathogenic variants in LDLR, APOB, and PCSK9 genes …
caused by pathogenic/likely pathogenic variants in LDLR, APOB, and PCSK9 genes …
[HTML][HTML] Review of p.(Val429Met), a Variant of LDLR That Is Associated with Familial Hypercholesterolemia
EF Jotch, MS Kindy - Cardiogenetics, 2024 - mdpi.com
Patients affected by familial hypercholesterolemia possess elevated low-density lipoprotein
cholesterol and therefore have greater risk for cardiovascular disease. About 90% of familial …
cholesterol and therefore have greater risk for cardiovascular disease. About 90% of familial …
Genetic heterogeneity of familial hypercholesterolaemia in two populations from two different countries
A Alieva, A Di Costanzo, M Gazzotti, O Reutova… - European Journal of …, 2024 - Elsevier
Background Familial hypercholesterolemia (FH) is a genetically determined monogenic
disorder of predominantly autosomal dominant inheritance. A number of studies on …
disorder of predominantly autosomal dominant inheritance. A number of studies on …
Cellular and functional evaluation of LDLR missense variants reported in hypercholesterolemic patients demonstrates their hypomorphic impacts on trafficking and …
AA Jawabri, A John, MA Ghattas… - Frontiers in Cell and …, 2024 - frontiersin.org
Background Familial hypercholesterolemia (FH) is an autosomal dominant disorder
characterized by increased LDL-cholesterol levels. About 85% of FH cases are caused by …
characterized by increased LDL-cholesterol levels. About 85% of FH cases are caused by …
[HTML][HTML] Sailing the Uncharted Waters of Familial Hypercholesterolemia LDL Receptor Genetic-Related Variants: Land in Sight?
RD Santos - Basic to Translational Science, 2023 - jacc.org
Heterozygous familial hypercholesterolemia is a common autosomal codominant disorder 1
affecting 1 in 300 individuals characterized by elevation of blood low-density lipoprotein …
affecting 1 in 300 individuals characterized by elevation of blood low-density lipoprotein …
[HTML][HTML] Large-scale functional characterization of low-density lipoprotein receptor gene variants improves risk assessment in cardiovascular disease
MM Islam, M Tamlander, I Hlushchenko… - JACC: Basic to …, 2024 - Elsevier
Limited access to functional information of genetic variants reduces the applicability of
genetic tools for precision medicine applications in cardiovascular disease. We established …
genetic tools for precision medicine applications in cardiovascular disease. We established …