review article | Q7318358 |
scholarly article | Q13442814 |
P2093 | author name string | Mohamed Nabil Alama | |
Zuhier Ahmed Awan | |||
Fatima Amanullah H Nazar | |||
Omran Mohammed Rashidi | |||
P2860 | cites work | NOMAD-Ref: visualization, deformation and refinement of macromolecular structures based on all-atom normal mode analysis | Q42553727 |
Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations | Q42966047 | ||
Apolipoprotein E: structure determines function, from atherosclerosis to Alzheimer's disease to AIDS. | Q43138847 | ||
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study | Q43418707 | ||
Low-density lipoprotein receptor gene mutation analysis and structure-function correlation in an Omani arab family with familial hypercholesterolemia | Q43714958 | ||
Novel LDLR variants in patients with familial hypercholesterolemia: in silico analysis as a tool to predict pathogenic variants in children and their families | Q44172915 | ||
The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes | Q47846212 | ||
Structural and functional characterization of pathogenic non- synonymous genetic mutations of human insulin-degrading enzyme by in silico methods. | Q51161180 | ||
A Computational Protein Phenotype Prediction Approach to Analyze the Deleterious Mutations of Human MED12 Gene | Q87163687 | ||
The protein structure prediction problem could be solved using the current PDB library | Q22248093 | ||
In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemia | Q24563909 | ||
Low-density lipoprotein receptor (LDLR) family orchestrates cholesterol homeostasis | Q24608930 | ||
SWISS-MODEL: An automated protein homology-modeling server | Q24672647 | ||
Monogenic hypercholesterolemia: new insights in pathogenesis and treatment | Q24672834 | ||
The structural alignment between two proteins: is there a unique answer? | Q24673989 | ||
A global reference for human genetic variation | Q25909434 | ||
Apolipoprotein E and apolipoprotein E receptors: normal biology and roles in Alzheimer disease | Q26858870 | ||
The leucine zipper: a hypothetical structure common to a new class of DNA binding proteins | Q27860587 | ||
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein | Q28186061 | ||
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia | Q28202519 | ||
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Apolipoprotein E: cholesterol transport protein with expanding role in cell biology | Q28294791 | ||
APOE p.Leu167del mutation in familial hypercholesterolemia. | Q30355909 | ||
Computational diagnosis of protein conformational diseases: short molecular dynamics simulations reveal a fast unfolding of r-LDL mutants that cause familial hypercholesterolemia. | Q30357459 | ||
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Apolipoprotein E-low density lipoprotein receptor interaction affects spatial memory retention and brain ApoE levels in an isoform-dependent manner. | Q30572801 | ||
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Predicting the Impact of Missense Mutations on Protein-Protein Binding Affinity. | Q35164244 | ||
Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France | Q36617485 | ||
Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation | Q36802138 | ||
Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel). | Q37325857 | ||
A normalized root-mean-square distance for comparing protein three-dimensional structures | Q38272565 | ||
Familial hypercholesterolemia mutations in the Middle Eastern and North African region: a need for a national registry | Q38441332 | ||
Exploring the complete mutational space of the LDL receptor LA5 domain using molecular dynamics: linking SNPs with disease phenotypes in familial hypercholesterolemia | Q38601708 | ||
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HexServer: an FFT-based protein docking server powered by graphics processors. | Q42011577 | ||
P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
P6216 | copyright status | copyrighted | Q50423863 |
P921 | main subject | in silico | Q192572 |
hypercholesterolemia | Q762713 | ||
familial hypercholesterolemia | Q2711291 | ||
P304 | page(s) | 84-93 | |
P577 | publication date | 2017-09-14 | |
P1433 | published in | Open Cardiovascular Medicine Journal | Q15817299 |
P1476 | title | Interpreting the Mechanism of APOE (p.Leu167del) Mutation in the Incidence of Familial Hypercholesterolemia; An In-silico Approach | |
P478 | volume | 11 |
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