Predictive Modeling and Structure Analysis of Genetic Variants in Familial Hypercholesterolemia: Implications for Diagnosis and Protein Interaction Studies

A Larrea-Sebal, S Jebari-Benslaiman… - Current Atherosclerosis …, 2023 - Springer
Abstract Purpose of Review Familial hypercholesterolemia (FH) is a hereditary condition
characterized by elevated levels of low-density lipoprotein cholesterol (LDL-C), which …

Pharmacogenomics variability of lipid-lowering therapies in familial hypercholesterolemia

NN Hindi, J Alenbawi, G Nemer - Journal of Personalized Medicine, 2021 - mdpi.com
The exponential expansion of genomic data coupled with the lack of appropriate clinical
categorization of the variants is posing a major challenge to conventional medications for …

From genomic spectrum of NTRK genes to adverse effects of its inhibitors, a comprehensive genome-based and real-world pharmacovigilance analysis

Z Cui, Z Zhai, D Xie, L Wang, F Cheng, S Lou… - Frontiers in …, 2024 - frontiersin.org
Introduction: The discovery of neurotrophic tyrosine receptor kinase (NTRK) gene fusions
has facilitated the development of precision oncology. Two first-generation NTRK inhibitors …

[HTML][HTML] LDLR missense variants disturb structural conformation and LDLR activity in T-lymphocytes of Familial hypercholesterolemia patients

TKA Barbosa, RDC Hirata, GM Ferreira, JB Borges… - Gene, 2023 - Elsevier
Familial hypercholesterolemia (FH) is caused by deleterious mutations in the LDLR that
increase markedly low-density lipoprotein (LDL) cholesterol and cause premature …

PyInteraph2 and PyInKnife2 to analyze networks in protein structural ensembles

V Sora, M Tiberti, L Beltrame, D Dogan… - Journal of Chemical …, 2023 - ACS Publications
Due to the complex nature of noncovalent interactions and their long-range effects,
analyzing protein conformations using network theory can be enlightening. Protein Structure …

Effects of PCSK9 missense variants on molecular conformation and biological activity in transfected HEK293FT cells

B Los, GM Ferreira, JB Borges, T Kronenberger… - Gene, 2023 - Elsevier
Abstract PCSK9 gain-of-function (GOF) variants increase degradation of low-density
lipoprotein receptor (LDLR) and are potentially associated with Familial …

Effects of LDLR variants rs5928, rs750518671 and rs879254797 on protein structure and functional activity in HepG2 cells transfected with CRISPR/Cas9 constructs

AA Mori, VB Malaquias, K Bonjour, GM Ferreira… - Gene, 2024 - Elsevier
Familial Hypercholesterolemia (FH) is a genetic disorder associated with premature
atherosclerosis and increased risk of cardiovascular diseases. LDLR deleterious mutations …

Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing

JB Borges, VF Oliveira, C Dagli-Hernandez… - Gene, 2023 - Elsevier
Familial hypercholesterolemia (FH) is a monogenic disease characterized by high plasma
low-density lipoprotein cholesterol (LDL-c) levels and increased risk of premature …

LDLR and PCSK9 3´UTR variants and their putative effects on microRNA molecular interactions in familial hypercholesterolemia: a computational approach

RCC de Freitas, RH Bortolin, JB Borges… - Molecular Biology …, 2023 - Springer
Background Familial hypercholesterolemia (FH) is caused by pathogenic variants in low-
density lipoprotein (LDL) receptor (LDLR) or its associated genes, including apolipoprotein …

Genetic Variant ABCC1 rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia

C Dagli-Hernandez, JB Borges, ESR Marçal… - Pharmaceutics, 2022 - mdpi.com
Statins are the first-line treatment for familial hypercholesterolemia (FH), but response is
highly variable due to genetic and nongenetic factors. Here, we explored the association …