LDLR
HGNC:6547 · 61 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | LDLR | “It demonstrates selective tumor tropism partly through low-density lipoprotein receptor (LDLR)-mediated entry and impaired antiviral responses in cancer cells.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “In silico studies further supported these findings, revealing an increased affinity of the VSV-P30-B16F10 glycoprotein for the LDLR receptor.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “BACKGROUND AND AIMS: Familial hypercholesterolemia (FH), primarily caused by pathogenic LDLR, APOB, or PCSK9 variants, results in elevated LDL-C and increased cardiovascular risk.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Clinical evaluation revealed a pathogenic variant in the low-density lipoprotein receptor (LDLR) and likely pathogenic variants in sodium voltage-gated channel alpha subunit 5 (SCN5A) and potassium voltage-gated channel subfamily Q member 1 (KCNQ1); additionally, nine other variants were predicted to be deleterious, including five novel SCN10A variants.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “One of the key functions of APOE is to bind and deliver newly synthesized cholesterol and lipids to neurons through receptor-mediated endocytosis (LDLR, LRP1, VLDLR, APOER2).” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Functional enrichment and PPI analysis highlighted HMGCR, PCSK9, PPAR-α, and LDLR as key targets.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “RESULTS: Among the 88 patients (45.4% males; median age: 17 years), LDLR mutations were identified in 100%.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “We also identified several rare, intermediate, and most common gene variants in cholesterol associated genes LDLR, LDLRAD2, LDLRAD3, APOA2, APOA3, APOA4, APOA5, and PCSK9.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Whole exome sequencing identifies concurrent LDLR and ABCG8 mutations in a Saudi family with familial hypercholesterolemia and Sitosterolaemia.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Pathogenic LDLR Variants (c.103 C>T and c.2416dup) in ligand-binding and cytosolic domains in Saudi familial hypercholesterolemia: Molecular characterization and computational insights.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “BACKGROUND: Homozygous familial hypercholesterolemia is a rare condition most commonly associated with pathogenic variants in the LDLR gene that leads to mortality before age 20 if not treated.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Identification of variants in exon 4 of the LDLR gene and assessment of their effects on the produced proteins in saudi women with metabolic syndrome.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “The liver-derived protein PCSK9 (proprotein convertase subtilisin/kexin-type-9) plays a vital role in regulating lipoprotein metabolism by binding to the low-density lipoprotein receptor (LDLR) and promoting its lysosomal degradation, ultimately reducing low-density lipoprotein (LDL) clearance.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Molecular docking studies assessed charantin's binding interactions with key lipid-regulating proteins (HMGCR, PCSK9, LDLR, PPAR-α, PI3K).” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “SCD, INSIG1, CYP51A1, and LDLR have strong protein-protein interactions.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9i) are prescribed in addition to statins and ezetimibe, but patients' response varies and depends on residual low-density lipoprotein receptor (LDLR) function.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Our compound upregulated the adipogenic (PPARγ), lipogenic (SREBP1c, FAS, ACC, and DGAT2), lipoprotein clearance (LPL, LDLR, and VLDLR), fatty acid uptake (CD36 and FATP1), and lipid droplet forming (FSP27 and perilipin-1) markers expressions in adipocytes and downregulated in hepatocytes.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “The pivotal role that proprotein convertase subtilisin/kexin Type 9 (PCSK9) plays in cholesterol homeostasis and atherosclerosis, primarily by post-transcriptionally regulating hepatic low-density lipoprotein receptor (LDLR) and promoting its lysosomal degradation, has garnered increasing interest.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “In this in silico study, berberine chloride greatly modulated several potent CVDs-related targets, including SIGMAR1, GRP78, CASP3, BECN1, PIK3C3, SQSTM1/p62, LC3B, GLUT3, INSR, LDLR, LXRα, PPARγ, IL1β, IFNγ, iNOS, COX-2, MCP-1, IL10, GPx1, and SOD3.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “LDLR mutation was in 78% and LDL-C/LDLRAP in 3% of patients.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Identification and functional characterization of two rare LDLR stop gain variants (p.C231* and p.R744*) in Saudi familial hypercholesterolemia patients.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Novel LDLR Variant in Familial Hypercholesterolemia: NGS-Based Identification, In Silico Characterization, and Pharmacogenetic Insights.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “In addition, this variant was predicted to negatively influence its ligand-binding ability with LDLR and Alirocumab antibody molecules.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Association of CELSR2, APOB100, ABCG5/8, LDLR, and APOE polymorphisms and their genetic risks with lipids among the Thai subjects.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Identification of Novel and Known LDLR Variants Triggering Severe Familial Hypercholesterolemia in Saudi Families.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Following PCSK9 activation, LDL receptors (LDLR) are degraded and as a result, LDL cholesterol (LDLC) levels are increased.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “The hepatic mRNA levels of cholesterol metabolism genes (APOB, PCSK9, HMGCR, LDLR, and CYP7A1) in the HCD group also tended toward increased cholesterol production and reduced cholesterol clearance.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “The LDLR gene had the greatest number of pathogenic/likely pathogenic variants 12%.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Proprotein convertase subtilisin/kexin type 9 (PCSK9) is an enzyme that enhances the lysosomal degradation of hepatic low density lipoprotein receptor (LDLR) resulting in excessive accumulation of the plasma levels of LDL-cholesterols (LDL-C) which subsequently accelerate atherosclerosis.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “METHODS: The full genomic sequences of all known different RV-A and -B prototypes were downloaded from the National Centre for Biotechnology Information (NCBI) and divided into minor low-density lipoprotein receptor (LDLR) and major intercellular adhesion molecule groups (ICAM).” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “BACKGROUND AND AIMS: Homozygous familial hypercholesterolemia (HoFH) is an orphan disease, most often caused by bi-allelic mutations of the LDLR gene.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “The protein expressions of LDLR (native LDL receptor) and CD36 (Scavenger receptor class B) were evaluated in aorta or liver with a Western blot.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Heterozygosity in LDLR rs2228671 and rs72658855 Gene is Associated with Increased Risk of Developing Coronary Artery Disease in India -A Case-Control Study.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “3) Loss-of-function variant of the LDLR were at a markedly increased risk of myocardial infarction (odds ratio 6.77, 95% confidence interval 4.75-9.66), and patients with a milder (hypomorphic) pathogenic LDLR change had a 4.4-fold increase in risk (odds ratio 4.4, 95% confidence interval 2.34-8.26), compared with controls.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Familial hypercholesterolemia (FH) is a monogenic dominant inherited disorder of lipid metabolism characterized by elevated low-density lipoprotein levels, and is mainly attributable to mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proportein convertase subtilisin/kexin type 9 (PCSK9) genes.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Familial hypercholesterolemia (FH) is an autosomal dominant disease most often caused by mutations in the low-density lipoprotein receptor (LDLR) gene, which consists of 18 exons spanning 45 kb and codes for a precursor protein of 860 amino acids.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “LDLR Gene Polymorphisms (rs5925 and rs1529729) Are Associated with Susceptibility to Coronary Artery Disease in a South Indian Population.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemia.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “A heterozygous pathogenic mutation in the LDLR gene associated with autosomal dominant familial hypercholesterolemia was present in one patient with deep venous thrombosis, although their cholesterol level was normal.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Definite FH includes: (1) elevated LDL-C (≥ 8.50 mmol/L); or (2) LDL-C ≥ 5.0 mmol/L (for age 40 years or older; ≥ 4.0 mmol/L if age younger than 18 years; and ≥ 4.5 mmol/L if age is between 18 and 39 years) when associated with at least 1 of: (1) tendon xanthomas; or (2) causal DNA mutation in the LDLR, APOB, or PCSK9 genes in the proband or first-degree relative.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “A total of 21 variants were detected with majority rate in LDLR (81%).” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “LDLR rs688 TT Genotype and T Allele Are Associated with Increased Susceptibility to Coronary Artery Disease-A Case-Control Study.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Mutations in the LDLR, APOB, and PCSK9 genes are known to cause FH.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “BACKGROUND: Apolipoprotein E (APOE) gene is a ligand protein in humans which mediates the metabolism of cholesterol by binding to the low-density lipoprotein receptor (LDLR).” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “The underlying molecular basis of FH is the presence of mutations in one or more genes in the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB) or proprotein convertase subtilisin/kexin 9 (PCSK9).” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Albeit the diagnosis of some medical Familial Hypercholesterolemia (FH) cases are due to mutations in PCSK9, APOB, or LDLR, detection of mutation rate and profiles relies heavily on different gene pools and ethnicity.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Hafez P107 Paediatric exome sequencing in autism spectrum disorder ascertained in Saudi families Hans-Juergen Schulten, Aisha Hassan Elaimi, Ibtessam R Hussein, Randa Ibrahim Bassiouni, Mohammad Khalid Alwasiyah, Richard F Wintle, Adeel Chaudhary, Stephen W Scherer, Mohammed Al-Qahtani P108 Crystal structure of the complex formed between Phospholipase A2 and the central core hydrophobic fragment of Alzheimer’s β- amyloid peptide: a reductionist approach Zeenat Mirza, Vikram Gopalakrishna Pillai, Sajjad Karim, Sujata Sharma, Punit Kaur, Alagiri Srinivasan, Tej P Singh, Mohammed Al-Qahtani P109 Differential expression profiling between meningiomas from female and male patients Reem Alotibi, Alaa Al-Ahmadi, Fatima Al-Adwani, Deema Hussein, Sajjad Karim, Mona Al-Sharif, Awatif Jamal, Fahad Al-Ghamdi, Jaudah Al-Maghrabi, Saleh S Baeesa, Mohammed Bangash, Adeel Chaudhary, Hans-Juergen Schulten, Mohammed Al-Qahtani P110 Neurospheres as models of early brain development and therapeutics Muhammad Faheem, Peter Natesan Pushparaj, Shilu Mathew, Taha Abdullah Kumosani, Gauthaman Kalamegam, Mohammed Al-Qahtani P111 Identification of a recurrent causative missense mutation p.(W577C) at the LDLR exon 12 in familial hypercholesterolemia affected Saudi families Faisal A Al-Allaf, Zainularifeen Abduljaleel, Abdullah Alashwal, Mohiuddin M.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Holler P61 Compound heterozygous mutation in the LDLR gene in Saudi patients suffering severe hypercholesterolemia F.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “The LDL-receptor (LDLR)-deficient (Ldlr(-/-)) and LDLR-attenuated Pcsk9(Tg) mice are available animal models for pharmacological testing.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Screening for genetic mutations in LDLR gene with familial hypercholesterolemia patients in the Saudi population.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Production of a vesicular stomatitis virus spike protein G (VSVG)-pseudotyped lentiviral expression vector in HEK293 cells decreased on overexpression of low-density lipoprotein receptor (LDLR) but not that of ICAM1 or TfR1.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Vitamin B12 insufficiency induces cholesterol biosynthesis by limiting s-adenosylmethionine and modulating the methylation of SREBF1 and LDLR genes.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “To investigate underlying genetic causes, such as familial hypercholesterolemia, DNA samples from these subjects were screened by PCR-SSCP and DNA sequencing to detect changes in the low density lipoprotein receptor gene (LDLR).” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “The Arabic allele: a single base pair substitution activates a 10-base downstream cryptic splice acceptor site in exon 12 of LDLR and severely decreases LDLR expression in two unrelated Arab families with familial hypercholesterolemia.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Low-density lipoprotein receptor (LDLR) associated familial hypercholesterolemia (FH) is the most frequent Mendelian disorder and is a major risk factor for the development of CAD.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Distribution of HLA-DQ alpha and polymarker (LDLR, GC, GYPA, HBGG, and D7S8) alleles in Arab and Pakistani populations living in Abu Dhabi, United Arab Emirates.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Many mutations in the low density lipoprotein receptor gene (LDLR) have been characterized at the molecular level in individuals with familial hypercholesterolemia.” | 0.98 | hgnc_dict_v1 |