Functional analysis of new variants at the Low Density Lipoprotein Receptor associated with familial hypercholesterolemia-Reference-Cited by-同舟云学术

Functional analysis of new variants at the Low Density Lipoprotein Receptor associated with familial hypercholesterolemia

Published:2019-05-20 Issue: Volume: Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Rodríguez‐Jiménez Carmen¹,Pernía Olga²³,Mostaza Jose⁴,Rodríguez‐Antolín Carlos²³,Dios García‐Díaz Juan⁵,Alonso‐Cerezo Concepción⁶,García‐Polo Iluminada⁷,Blanco Agustín⁸,Lahoz Carlos⁴,Arrieta Francisco⁹¹⁰¹¹,Beltrán Luis¹²,Díaz de Bustamante Aránzazu¹³,Garzón‐Lorenzo Lucía¹⁴,Álvarez‐Sala Luis Antonio¹⁵,Asenjo Ángel¹⁶,Ibáñez de Cáceres Inmaculada²³,Rodríguez‐Nóvoa Sonia¹^ORCID

Affiliation:

1. Department of Genetics of metabolics diseasesInstitute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz Madrid Spain

2. Cancer Epigenetics Laboratory, INGEMM, La Paz University Hospital Madrid Spain

3. Biomarkers and Experimental Therapeutics in Cancer, IdiPAZ Madrid

4. Lipid and Vascular Unit, Hospital Carlos III Madrid Spain

5. Department of GeneticsHospital Universitario Príncipe de Asturias Madrid Spain

6. Department of GeneticsHospital de La Princesa Madrid Spain

7. Department of Internal MedicineHospital de la Princesa Madrid Spain

8. Department of Internal Medicine Hospital Doce de Octubre Madrid Spain

9. Department of Endocrinology and NutritionUnit Hospital Ramón y Cajal Madrid Spain

10. Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRyCIS), E‐28034 Madrid Spain

11. CIBER de Fisiopatología de la Obesidad y Nutrición (CIBEROBN) Madrid Spain

12. Department of Internal MedicineHospital Universitario la Paz Madrid Spain

13. Department of GeneticsHospital Universitario de Móstoles Madrid Spain

14. Department of Pediatrics, Division of EndocrinologyHospital Doce de Octubre Madrid Spain

15. Department of Internal MedicineHospital Universitario Gregorio Marañón Madrid Spain

16. Department of Internal MedicineHospital Rey Juan Carlos Madrid Spain

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23801

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1. Effects of LDLR variants rs5928, rs750518671 and rs879254797 on protein structure and functional activity in HepG2 cells transfected with CRISPR/Cas9 constructs;Gene;2024-01

2. LDLR missense variants disturb structural conformation and LDLR activity in T-lymphocytes of Familial hypercholesterolemia patients;Gene;2023-02

3. Re-evaluation of the LDLR Gene Variants of Uncertain Significance Using ClinGen Guideline;Laboratory Medicine Online;2022-04-01

4. Refinement of pathogenicity classification of variants associated with familial hypercholesterolemia: Implications for clinical diagnosis;Journal of Clinical Lipidology;2021-11

5. Genomics, epigenomics and pharmacogenomics of familial hypercholesterolemia (FHBGEP): A study protocol;Research in Social and Administrative Pharmacy;2021-07