Cargando…

MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants

Untreated familial hypercholesterolemia (FH) leads to atherosclerosis and early cardiovascular disease. Mutations in the low-density lipoprotein receptor (LDLr) gene constitute the major cause of FH, and the high number of mutations already described in the LDLr makes necessary cascade screening or...

Descripción completa

Detalles Bibliográficos
Autores principales:	Larrea-Sebal, Asier, Benito-Vicente, Asier, Fernandez-Higuero, José A., Jebari-Benslaiman, Shifa, Galicia-Garcia, Unai, Uribe, Kepa B., Cenarro, Ana, Ostolaza, Helena, Civeira, Fernando, Arrasate, Sonia, González-Díaz, Humberto, Martín, César
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2021
Materias:	Preclinical Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8617597/ https://www.ncbi.nlm.nih.gov/pubmed/34869944 http://dx.doi.org/10.1016/j.jacbts.2021.08.009

Ejemplares similares

Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR
por: Galicia-Garcia, Unai, et al.
Publicado: (2020)

Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants
por: Benito-Vicente, Asier, et al.
Publicado: (2018)

Cholesterol Efflux Efficiency of Reconstituted HDL Is Affected by Nanoparticle Lipid Composition
por: Jebari-Benslaiman, Shifa, et al.
Publicado: (2020)

Predictive Modeling and Structure Analysis of Genetic Variants in Familial Hypercholesterolemia: Implications for Diagnosis and Protein Interaction Studies
por: Larrea-Sebal, Asier, et al.
Publicado: (2023)

Statin Treatment-Induced Development of Type 2 Diabetes: From Clinical Evidence to Mechanistic Insights
por: Galicia-Garcia, Unai, et al.
Publicado: (2020)

Pathophysiology of Type 2 Diabetes Mellitus
por: Galicia-Garcia, Unai, et al.
Publicado: (2020)

Cardiovascular Disease, Atherosclerosis and Familial Hypercholesterolemia: From Molecular Mechanisms Causing Pathogenicity to New Therapeutic Approaches
por: Jebari-Benslaiman, Shifa, et al.
Publicado: (2023)

Pathophysiology of Atherosclerosis
por: Jebari-Benslaiman, Shifa, et al.
Publicado: (2022)

Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease
por: Benito-Vicente, Asier, et al.
Publicado: (2018)

Age, Origin and Functional Study of the Prevalent LDLR Mutation Causing Familial Hypercholesterolaemia in Gran Canaria
por: Suárez, Nicolás M., et al.
Publicado: (2023)

Advantages and Versatility of Fluorescence-Based Methodology to Characterize the Functionality of LDLR and Class Mutation Assignment
por: Etxebarria, Aitor, et al.
Publicado: (2014)

Replacement of cysteine at position 46 in the first cysteine-rich repeat of the LDL receptor impairs apolipoprotein recognition
por: Benito-Vicente, A., et al.
Publicado: (2018)

A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants
por: Uribe, Kepa B., et al.
Publicado: (2021)

Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patients With a Spectrum of LDLR Activity
por: Banerjee, Poulabi, et al.
Publicado: (2019)

Functional Characterization of p.(Arg160Gln) PCSK9 Variant Accidentally Found in a Hypercholesterolemic Subject
por: Larrea-Sebal, Asier, et al.
Publicado: (2023)

p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro
por: Benito-Vicente, A., et al.
Publicado: (2018)

miR-27b Modulates Insulin Signaling in Hepatocytes by Regulating Insulin Receptor Expression
por: Benito-Vicente, Asier, et al.
Publicado: (2020)

High-Fat Diet Enhances Neutrophil Adhesion in LDLR-Null Mice Via Hypercitrullination of Histone H3
por: Osaka, Mizuko, et al.
Publicado: (2021)

The GLP-1 Analogs Liraglutide and Semaglutide Reduce Atherosclerosis in ApoE(−/−) and LDLr(−/−) Mice by a Mechanism That Includes Inflammatory Pathways
por: Rakipovski, Günaj, et al.
Publicado: (2018)

Triciribine increases LDLR expression and LDL uptake through stabilization of LDLR mRNA
por: Bjune, Katrine, et al.
Publicado: (2018)

LDLR and PCSK9 Are Associated with the Presence of Antiphospholipid Antibodies and the Development of Thrombosis in aPLA Carriers
por: Ochoa, Eguzkine, et al.
Publicado: (2016)

Increased Inflammation in Atherosclerotic Lesions of Diabetic Akita-LDLr (−/−) Mice Compared to Nondiabetic LDLr (−/−) Mice
por: Engelbertsen, Daniel, et al.
Publicado: (2012)

Oxidative Stress and Lipid Accumulation Augments Cell Death in LDLR-Deficient RPE Cells and Ldlr (−/−) Mice
por: Sreekumar, Parameswaran Gangadharan, et al.
Publicado: (2022)

Primate-specific evolution of an LDLR enhancer
por: Wang, Qian-fei, et al.
Publicado: (2006)

T Cells in Atherosclerosis in Ldlr−/− and Apoe−/− Mice
por: Getz, Godfrey S., et al.
Publicado: (2018)

Therapeutic targets of hypercholesterolemia: HMGCR and LDLR
por: Ma, Shizhan, et al.
Publicado: (2019)

Understanding the Mechanism of Translocation of Adenylate Cyclase Toxin across Biological Membranes
por: Ostolaza, Helena, et al.
Publicado: (2017)

The enigma of soluble LDLR: could inflammation be the key?
por: Mbikay, Majambu, et al.
Publicado: (2020)

Berberine decreases plasma triglyceride levels and upregulates hepatic TRIB1 in LDLR wild type mice and in LDLR deficient mice
por: Singh, Amar Bahadur, et al.
Publicado: (2019)

A genetic variant in the LDLR promoter is responsible for part of the LDL-cholesterol variability in primary hypercholesterolemia
por: De Castro-Orós, Isabel, et al.
Publicado: (2014)

Vitamin D(3) supplementation of a high fat high sugar diet ameliorates prediabetic phenotype in female LDLR(−/−) and LDLR(+/+) mice
por: Kheder, Ramiar, et al.
Publicado: (2017)

A Rare Missense Mutation and a Polymorphism with High Frequency in LDLR Gene among Iranian Patients with Familial Hypercholesterolemia
por: Tajamolian, Masoud, et al.
Publicado: (2018)

Molecular modeling of LDLR aids interpretation of genomic variants
por: Klee, Eric W., et al.
Publicado: (2019)

HVC1 ameliorates hyperlipidemia and inflammation in LDLR(−/−) mice
por: Cheon, Se-Yun, et al.
Publicado: (2017)

High-Throughput Microscopy Characterization of Rare LDLR Variants
por: Graça, Rafael, et al.
Publicado: (2023)

Large-Scale CRISPR Screen of LDLR Pathogenic Variants
por: Li, Mengjing, et al.
Publicado: (2023)

Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction
por: Thormaehlen, Aenne S., et al.
Publicado: (2015)

An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential of early cardiovascular disease intervention
por: Jørsboe, Emil, et al.
Publicado: (2022)

Structural changes induced by acidic pH in human apolipoprotein B-100
por: Fernández-Higuero, José A., et al.
Publicado: (2016)

LDLR-Gene therapy for familial hypercholesterolaemia: problems, progress, and perspectives
por: Al-Allaf, Faisal A, et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_apuu1n4hjsesm0sij6fimreua9