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Select item 109579511.

Identification of a novel LDLR p.Glu179Met variant in Thai families with familial hypercholesterolemia and response to treatment with PCSK9 inhibitor

Burabha Pussadhamma, Chaiyasith Wongvipaporn, Atthakorn Wutthimanop, Manit Nuinoon, Sureerut Porntadavity, Nutjaree Jeenduang

Sci Rep. 2024; 14: 6785. Published online 2024 Mar 21. doi: 10.1038/s41598-024-57069-z

PMCID:: PMC10957951

Article PDF–2.3M

Select item 109102152.

A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertion in LDLR

Yongjun Song, Reham Abdel Haleem Abo Elwafa, Omneya Magdy Omar, Go Hun Seo, Hane Lee

Mol Genet Genomic Med. 2024 Mar; 12(3): e2410. Published online 2024 Mar 4. doi: 10.1002/mgg3.2410

PMCID:: PMC10910215

Article PDF–1.2M

Select item 108372053.

LDLR is an entry receptor for Crimean-Congo hemorrhagic fever virus

Zhi-Sheng Xu, Wen-Tian Du, Su-Yun Wang, Mo-Yu Wang, Yi-Ning Yang, Yu-Hui Li, Zhen-Qi Li, Li-Xin Zhao, Yan Yang, Wei-Wei Luo, Yan-Yi Wang

Cell Res. 2024 Feb; 34(2): 140–150. Published online 2024 Jan 5. doi: 10.1038/s41422-023-00917-w

PMCID:: PMC10837205

Article PDF–5.0M

Select item 108152944.

iPSC-Derived Endothelial Cells Reveal LDLR Dysfunction and Dysregulated Gene Expression Profiles in Familial Hypercholesterolemia

Irina S. Zakharova, Alexander I. Shevchenko, Mhd Amin Arssan, Aleksei A. Sleptcov, Maria S. Nazarenko, Aleksei A. Zarubin, Nina V. Zheltysheva, Vlada A. Shevchenko, Narek A. Tmoyan, Shoraan B. Saaya, Marat V. Ezhov, Valery V. Kukharchuk, Yelena V. Parfyonova, Suren M. Zakian

Int J Mol Sci. 2024 Jan; 25(2): 689. Published online 2024 Jan 5. doi: 10.3390/ijms25020689

PMCID:: PMC10815294

Article PDF–3.2M

Select item 103808325.

Low-Density Lipoprotein Receptor (LDLR) Is Involved in Internalization of Lentiviral Particles Pseudotyped with SARS-CoV-2 Spike Protein in Ocular Cells

Sheetal Uppal, Olga Postnikova, Rafael Villasmil, Igor B. Rogozin, Alexander V. Bocharov, Thomas L. Eggerman, Eugenia Poliakov, T. Michael Redmond

Int J Mol Sci. 2023 Jul; 24(14): 11860. Published online 2023 Jul 24. doi: 10.3390/ijms241411860

PMCID:: PMC10380832

Article PDF–6.9M

Select item 103796666.

Novel Tools for Comprehensive Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants

Jacek Jasiecki, Monika Targońska, Anna Janaszak-Jasiecka, Magdalena Chmara, Monika Żuk, Leszek Kalinowski, Krzysztof Waleron, Bartosz Wasąg

Int J Mol Sci. 2023 Jul; 24(14): 11435. Published online 2023 Jul 14. doi: 10.3390/ijms241411435

PMCID:: PMC10379666

Article PDF–5.9M

Select item 102987207.

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

Paola Concolino, Elisa De Paolis, Simona Moffa, Maria Elisabetta Onori, Laura Soldovieri, Claudio Ricciardi Tenore, Maria De Bonis, Claudio Rabacchi, Concetta Santonocito, Martina Rinelli, Sebastiano Calandra, Andrea Giaccari, Andrea Urbani, Angelo Minucci

Genes (Basel) 2023 Jun; 14(6): 1275. Published online 2023 Jun 16. doi: 10.3390/genes14061275

PMCID:: PMC10298720

Article PDF–1.1M

Select item 102973818.

A Review of Progress on Targeting LDL Receptor-Dependent and -Independent Pathways for the Treatment of Hypercholesterolemia, a Major Risk Factor of ASCVD

Rai Ajit K. Srivastava

Cells. 2023 Jun; 12(12): 1648. Published online 2023 Jun 16. doi: 10.3390/cells12121648

PMCID:: PMC10297381

Article PDF–2.2M

Select item 102808409.

In vitro assessment of the pathogenicity of the LDLR c.2160delC variant in familial hypercholesterolemia

Shaoyi Lin, Tingting Hu, Kaihan Wang, Jiaqi Wang, Yunyun Zhu, Xiaomin Chen

Lipids Health Dis. 2023; 22: 77. Published online 2023 Jun 20. doi: 10.1186/s12944-023-01848-6

PMCID:: PMC10280840

Article PDF–2.5M

Select item 1022748210.

Characterisation of LDL receptor gene mutations in a North Indian cohort of children with homozygous familial hypercholesterolaemia

Shagun Singh, Minu Singh, Devi Dayal, Prateek Bhatia, Sandeep Negi, Savita V. Attri

Pediatr Endocrinol Diabetes Metab. 2021 Mar; 27(1): 32–36. Published online 2021 Feb 11. doi: 10.5114/pedm.2020.103056

PMCID:: PMC10227482

Article PDF–1.1M

Select item 1000320111.

Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION

Maria S. Nazarenko, Aleksei A. Sleptcov, Aleksei A. Zarubin, Ramil R. Salakhov, Alexander I. Shevchenko, Narek A. Tmoyan, Eugeny A. Elisaphenko, Ekaterina S. Zubkova, Nina V. Zheltysheva, Marat V. Ezhov, Valery V. Kukharchuk, Yelena V. Parfyonova, Suren M. Zakian, Irina S. Zakharova

Int J Mol Sci. 2023 Mar; 24(5): 4471. Published online 2023 Feb 24. doi: 10.3390/ijms24054471

PMCID:: PMC10003201

Article PDF–3.2M

Select item 895429612.

The Emerging Roles of Intracellular PCSK9 and Their Implications in Endoplasmic Reticulum Stress and Metabolic Diseases

Paul F. Lebeau, Khrystyna Platko, Jae Hyun Byun, Yumna Makda, Richard C. Austin

Metabolites. 2022 Mar; 12(3): 215. Published online 2022 Feb 26. doi: 10.3390/metabo12030215

PMCID:: PMC8954296

Article PDF–1.2M

Select item 845952313.

LDLR gene polymorphism (rs688) affects susceptibility to cardiovascular disease in end-stage kidney disease patients

Monika Buraczynska, Jerry Jacob, Karolina Gwiazda-Tyndel, Andrzej Ksiazek

BMC Nephrol. 2021; 22: 316. Published online 2021 Sep 23. doi: 10.1186/s12882-021-02532-6

PMCID:: PMC8459523

Article PDF–808K

Select item 843656814.

The LDLR c.501C>A is a disease-causing variant in familial hypercholesterolemia

Haochang Hu, Ruoyu Chen, Yingchu Hu, Jian Wang, Shaoyi Lin, Xiaomin Chen

Lipids Health Dis. 2021; 20: 101. Published online 2021 Sep 12. doi: 10.1186/s12944-021-01536-3

PMCID:: PMC8436568

Article PDF–3.4M

Select item 787539915.

Genome-scale CRISPR screening for modifiers of cellular LDL uptake

Brian T. Emmer, Emily J. Sherman, Paul J. Lascuna, Sarah E. Graham, Cristen J. Willer, David Ginsburg

PLoS Genet. 2021 Jan; 17(1): e1009285. Published online 2021 Jan 29. doi: 10.1371/journal.pgen.1009285

PMCID:: PMC7875399

Article PDF–2.7M

Select item 759962616.

The c.*52 A/G and c.*773 A/G Genetic Variants in the UTR′3 of the LDLR Gene Are Associated with the Risk of Acute Coronary Syndrome and Lower Plasma HDL-Cholesterol Concentration

Gilberto Vargas-Alarcon, Oscar Perez-Mendez, Julian Ramirez-Bello, Rosalinda Posadas-Sanchez, Hector Gonzalez-Pacheco, Galileo Escobedo, Betzabe Nieto-Lima, Elizabeth Carreon-Torres, Jose Manuel Fragoso

Biomolecules. 2020 Oct; 10(10): 1381. Published online 2020 Sep 29. doi: 10.3390/biom10101381