In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population-Reference-Cited by-同舟云学术

In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population

Published:2018-02 Issue:2 Volume:25 Page:170-181
ISSN:1557-8666
Container-title:Journal of Computational Biology
language:en
Short-container-title:Journal of Computational Biology

Author:

Morad Fatima A.¹,Rashidi Omran M.²,Sadath Saida S.³,Al-Allaf Faisal A.⁴⁵,Athar Mohammad⁴⁵,Alama Mohamed N.⁶,Edris Sherif E.¹,Bondagji Nabeel S.⁷,Shaik Noor A.⁸,Banaganapalli Babajan⁸,Awan Zuhier²

Affiliation:

1. Department of Biology, Genomic and Biotechnology Section, Faculty of Science, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.

2. Department of Clinical Biochemistry, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.

3. Department of Biochemistry, Faculty of Science, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.

4. Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah, Kingdom of Saudi Arabia.

5. Department of Science and Technology, Umm Al-Qura University, Makkah, Kingdom of Saudi Arabia.

6. Adult Interventional Cardiology, Cardiology Unit, King Abdulaziz University Hospital (KAUH), Jeddah, Kingdom of Saudi Arabia.

7. Obstetrics and Gynecology Unit, King Abdul Aziz University Hospital, Jeddah, Kingdom of Saudi Arabia.

8. Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders (PACER-HD), Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.

Publisher

Mary Ann Liebert Inc

Subject

Computational Theory and Mathematics,Computational Mathematics,Genetics,Molecular Biology,Modeling and Simulation

Link

http://www.liebertpub.com/doi/pdf/10.1089/cmb.2017.0018

Reference35 articles.

1. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

2. Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia

3. Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease

4. Deletion of Fifteen Open Reading Frames from Modified Vaccinia Virus Ankara Fails to Improve Immunogenicity

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Cellular and functional evaluation of LDLR missense variants reported in hypercholesterolemic patients demonstrates their hypomorphic impacts on trafficking and LDL internalization;Frontiers in Cell and Developmental Biology;2024-07-24

2. Genotype–phenotype correlation in IBD: unveiling putative inhibitors for IL10RA and IRF5 variants—an in silico analysis;Journal of Proteins and Proteomics;2024-06-26

3. Novel LDLR Variant in Familial Hypercholesterolemia: NGS-Based Identification, In Silico Characterization, and Pharmacogenetic Insights;Life;2023-07-11

4. Genotype-protein phenotype characterization of NOD2 and IL23R missense variants associated with inflammatory bowel disease: A paradigm from molecular modelling, dynamics, and docking simulations;Frontiers in Medicine;2023-01-10

5. Identification of Novel and Known LDLR Variants Triggering Severe Familial Hypercholesterolemia in Saudi Families;Current Vascular Pharmacology;2022-07