Identification of a novel LDLR p.Glu179Met variant in Thai families with familial hypercholesterolemia and response to treatment with PCSK9 inhibitor. | Identification of a novel LDLR p.Glu179Met variant in Thai families with familial hypercholesterolemia and response to treatment with PCSK9 inhibitor. Pussadhamma B, Wongvipaporn C, Wutthimanop A, Nuinoon M, Porntadavity S, Jeenduang N., Free PMC Article | 03/27/2024 |
A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE-1 insertion in LDLR. | A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE-1 insertion in LDLR. Song Y, Elwafa RAHA, Omar OM, Seo GH, Lee H., Free PMC Article | 03/6/2024 |
Novel LDLR variants affecting low density lipoprotein metabolism identified in familial hypercholesterolemia. | Novel LDLR variants affecting low density lipoprotein metabolism identified in familial hypercholesterolemia. Wang M, Hong L, Cai L, Zhang Z, Jiang N, Chen Y, Ying Q, Kong L, Wei Z, Xu Y, Jin L. | 02/7/2024 |
LDLR is an entry receptor for Crimean-Congo hemorrhagic fever virus. | LDLR is an entry receptor for Crimean-Congo hemorrhagic fever virus. Xu ZS, Du WT, Wang SY, Wang MY, Yang YN, Li YH, Li ZQ, Zhao LX, Yang Y, Luo WW, Wang YY., Free PMC Article | 02/6/2024 |
iPSC-Derived Endothelial Cells Reveal LDLR Dysfunction and Dysregulated Gene Expression Profiles in Familial Hypercholesterolemia. | iPSC-Derived Endothelial Cells Reveal LDLR Dysfunction and Dysregulated Gene Expression Profiles in Familial Hypercholesterolemia. Zakharova IS, Shevchenko AI, Arssan MA, Sleptcov AA, Nazarenko MS, Zarubin AA, Zheltysheva NV, Shevchenko VA, Tmoyan NA, Saaya SB, Ezhov MV, Kukharchuk VV, Parfyonova YV, Zakian SM., Free PMC Article | 01/31/2024 |
Screening and verifying the mutations in the LDLR and APOB genes in a Chinese family with familial hypercholesterolemia. | Screening and verifying the mutations in the LDLR and APOB genes in a Chinese family with familial hypercholesterolemia. Lv X, Wang C, Liu L, Yin G, Zhang W, Abdu FA, Shi T, Zhang Q, Che W., Free PMC Article | 11/30/2023 |
Identification and functional characterization of two rare LDLR stop gain variants (p.C231* and p.R744*) in Saudi familial hypercholesterolemia patients. | Identification and functional characterization of two rare LDLR stop gain variants (p.C231* and p.R744*) in Saudi familial hypercholesterolemia patients. Awan Z, Batran A, Al-Allaf FA, Alharbi RS, Hegazy GA, Jamalalail B, Almansouri M, Bima AI, Almukadi H, Kutbi HI, Altayar AE, Banaganapalli B, Shaik NA. | 11/29/2023 |
The LDL receptor is regulated by membrane cholesterol as revealed by fluorescence fluctuation analysis. | The LDL receptor is regulated by membrane cholesterol as revealed by fluorescence fluctuation analysis. Morales SV, Mahmood A, Pollard J, Mayne J, Figeys D, Wiseman PW., | 09/23/2023 |
Proteolysis of the low-density lipoprotein receptor in hepatocytes is mediated by BMP1 but not by other astacin proteases. | Proteolysis of the low-density lipoprotein receptor in hepatocytes is mediated by BMP1 but not by other astacin proteases. Kellett KAB, Fisher K, Aldworth H, Hooper NM., Free PMC Article | 08/25/2023 |
Novel Tools for Comprehensive Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants. | Novel Tools for Comprehensive Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants. Jasiecki J, Targońska M, Janaszak-Jasiecka A, Chmara M, Żuk M, Kalinowski L, Waleron K, Wasąg B., Free PMC Article | 08/16/2023 |
LDLR promotes autophagy-mediated cisplatin resistance in ovarian cancer associated with the PI3K/AKT/mTOR signaling pathway. | LDLR promotes autophagy-mediated cisplatin resistance in ovarian cancer associated with the PI3K/AKT/mTOR signaling pathway. Liu L, Sun YH, An R, Cheng RJ, Li N, Zheng JH. | 08/16/2023 |
Linkage Disequilibrium between LDLR rs688 and AvaII Genes and its Significant Association with Ischemic Stroke. | Linkage Disequilibrium between LDLR rs688 and AvaII Genes and its Significant Association with Ischemic Stroke. Chen Y, Cai H, Zhang J, Su Y, Wu Y, Lin Z, Zhang Z. | 08/4/2023 |
Low-Density Lipoprotein Receptor (LDLR) Is Involved in Internalization of Lentiviral Particles Pseudotyped with SARS-CoV-2 Spike Protein in Ocular Cells. | Low-Density Lipoprotein Receptor (LDLR) Is Involved in Internalization of Lentiviral Particles Pseudotyped with SARS-CoV-2 Spike Protein in Ocular Cells. Uppal S, Postnikova O, Villasmil R, Rogozin IB, Bocharov AV, Eggerman TL, Poliakov E, Redmond TM., Free PMC Article | 08/3/2023 |
A Review of Progress on Targeting LDL Receptor-Dependent and -Independent Pathways for the Treatment of Hypercholesterolemia, a Major Risk Factor of ASCVD. | A Review of Progress on Targeting LDL Receptor-Dependent and -Independent Pathways for the Treatment of Hypercholesterolemia, a Major Risk Factor of ASCVD. Srivastava RAK., Free PMC Article | 07/5/2023 |
Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family. | Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family. Concolino P, De Paolis E, Moffa S, Onori ME, Soldovieri L, Ricciardi Tenore C, De Bonis M, Rabacchi C, Santonocito C, Rinelli M, Calandra S, Giaccari A, Urbani A, Minucci A., Free PMC Article | 06/30/2023 |
In vitro assessment of the pathogenicity of the LDLR c.2160delC variant in familial hypercholesterolemia. | In vitro assessment of the pathogenicity of the LDLR c.2160delC variant in familial hypercholesterolemia. Lin S, Hu T, Wang K, Wang J, Zhu Y, Chen X., Free PMC Article | 06/28/2023 |
Exosomal circ_0008285 in follicle fluid regulates the lipid metabolism through the miR-4644/ LDLR axis in polycystic ovary syndrome. | Exosomal circ_0008285 in follicle fluid regulates the lipid metabolism through the miR-4644/ LDLR axis in polycystic ovary syndrome. Yu L, Wang C, Zhang D, Liu M, Liu T, Pan B, Che Q, Liu S, Wang B, Dong X, Guo W., Free PMC Article | 06/24/2023 |
Association of LDLR, TP53 and MMP9 Gene Polymorphisms With Atherosclerosis in a Malaysian Study Population. | Association of LDLR, TP53 and MMP9 Gene Polymorphisms With Atherosclerosis in a Malaysian Study Population. Ahmad Z, Blin J, Rampal L, Adnan RS, Mohtarrudin N, Abang Yusuf DSY. | 05/4/2023 |
Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION. | Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION. Nazarenko MS, Sleptcov AA, Zarubin AA, Salakhov RR, Shevchenko AI, Tmoyan NA, Elisaphenko EA, Zubkova ES, Zheltysheva NV, Ezhov MV, Kukharchuk VV, Parfyonova YV, Zakian SM, Zakharova IS., Free PMC Article | 03/27/2023 |
PCSK9-D374Y Suppresses Hepatocyte Migration through Downregulating Free Cholesterol Efflux Rate and Activity of Extracellular Signal-Regulated Kinase. | PCSK9-D374Y Suppresses Hepatocyte Migration through Downregulating Free Cholesterol Efflux Rate and Activity of Extracellular Signal-Regulated Kinase. Huang L, Cheng Y, Mu Y, Li K., Free PMC Article | 01/28/2023 |
LDLR missense variants disturb structural conformation and LDLR activity in T-lymphocytes of Familial hypercholesterolemia patients. | LDLR missense variants disturb structural conformation and LDLR activity in T-lymphocytes of Familial hypercholesterolemia patients. Barbosa TKA, Hirata RDC, Ferreira GM, Borges JB, Oliveira VF, Gorjão R, Marçal ERDS, Gonçalves RM, Faludi AA, Freitas RCC, Dagli-Hernandez C, Bortolin RH, Bastos GM, Pithon-Curi TC, Nader HB, Hirata MH. | 01/7/2023 |
[Analysis of clinical phenotypes and variants of LDLR gene in two Chinese patients with familial hypercholesterolemia]. | [Analysis of clinical phenotypes and variants of LDLR gene in two Chinese patients with familial hypercholesterolemia]. Wang K, Sun T, Zhang X, Zhang Y, Gao H, Ren Y, Li X. | 12/10/2022 |
Elevated sdLDL level and LDLR rs688 C>T mutation are independent risk factors for ischemic stroke. | Elevated sdLDL level and LDLR rs688 C>T mutation are independent risk factors for ischemic stroke. Chen Y, Cai H, Zhang J, Su Y, Wu Y, Lin Z, Zhang Z. | 11/19/2022 |
Identification of Novel and Known LDLR Variants Triggering Severe Familial Hypercholesterolemia in Saudi Families. | Identification of Novel and Known LDLR Variants Triggering Severe Familial Hypercholesterolemia in Saudi Families. Alnouri F, Al-Allaf FA, Athar M, Al-Rasadi K, Alammari D, Alanazi M, Abduljaleel Z, Awan Z, Bouazzaoui A, Dairi G, Elbjeirami WM, Karra H, Kinsara AJ, Taher MM. | 11/12/2022 |
Modifying pH-sensitive PCSK9/LDLR interactions as a strategy to enhance hepatic cell uptake of low-density lipoprotein cholesterol (LDL-C). | Modifying pH-sensitive PCSK9/LDLR interactions as a strategy to enhance hepatic cell uptake of low-density lipoprotein cholesterol (LDL-C). Ben-Naim L, Khalaila I, Papo N. | 05/14/2022 |