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Red Fluorescent Protein Variant with a Dual-Peak Emission of Fluorescence
The marine environment is a rich reservoir of diverse biological entities, many of which possess unique properties that are of immense value to...
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Cross-protein transfer learning substantially improves disease variant prediction
BackgroundGenetic variation in the human genome is a major determinant of individual disease risk, but the vast majority of missense variants have...
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Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination
Two-thirds of all human conceptions are lost, in most cases before clinical detection. The lack of detailed understanding of the causes of pregnancy...
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The MMP-9 promoter genetic variant rs3918242, mRNA and protein expression in advanced carotid plaque tissue
BackgroundThe MMP-9 is a known player in atherosclerosis, yet associations of the MMP-9 -1562 C/T variant (rs3918242) with various atherosclerotic...
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Genetic analysis of a child with severe intellectual disability caused by a novel variant in the FERM domain of the FRMPD4 protein
Intellectual developmental disorder, X-linked 104 (XLID104), caused by the FRMPD4 gene variant, is a rare X-linked genetic disease that primarily...
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Molecular and computational analysis of spike protein of newly emerged omicron variant in comparison to the delta variant of SARS-CoV-2 in Iraq
BackgroundThe Severe Acute Respiratory Syndrome Coronavirus (SARS-CoV-2) has had a major impact on world health over the last 2 years. The emergence...
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The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function
BackgroundLipoprotein lipase (LPL) is the key enzyme responsible for the hydrolysis of triglycerides. Loss-of-function variants in the LPL gene are...
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A variant-proof SARS-CoV-2 vaccine targeting HR1 domain in S2 subunit of spike protein
The emerging SARS-CoV-2 variants, commonly with many mutations in S1 subunit of spike (S) protein are weakening the efficacy of the current vaccines...
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Characterization of BRCA2 R3052Q variant in mice supports its functional impact as a low-risk variant
Pathogenic variants in BRCA2 are known to significantly increase the lifetime risk of develo** breast and ovarian cancers. Sequencing-based genetic...
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New molecular insights into the A218V variant impact on the steroidogenic acute regulatory protein (STAR) associated with 46, XY disorders of sexual development
Disorders of sexual development (DSD) are an abnormal congenital conditions associated with atypical development of the urogenital tract and external...
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Evaluating the transmission feasibility of SARS-CoV-2 Omicron (B.1.1.529) variant to 143 mammalian hosts: insights from S protein RBD and host ACE2 interaction studies
In comparison to previously known severe respiratory syndrome coronavirus 2 (SARS-CoV-2) variants, the newly emerged Omicron (B.1.1.529) variant...
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Marine sulfated glycans inhibit the interaction of heparin with S-protein of SARS-CoV-2 Omicron XBB variant
The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has caused a worldwide COVID-19 pandemic, leading to 6.8 million deaths. Numerous...
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Enumeration of olive derived lignan, pinoresinol for activity against recent Omicron variant spike protein for structure-based drug design, DFT, molecular dynamics simulations, and MMGBSA studies
The coronavirus disease 2019 (COVID-19) was first found in Wuhan, China, in December 2019. Because the virus spreads quickly, it quickly became a...
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Characterizing glucokinase variant mechanisms using a multiplexed abundance assay
BackgroundAmino acid substitutions can perturb protein activity in multiple ways. Understanding their mechanistic basis may pinpoint how residues...
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satmut_utils: a simulation and variant calling package for multiplexed assays of variant effect
The impact of millions of individual genetic variants on molecular phenotypes in coding sequences remains unknown. Multiplexed assays of variant...
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COQ7 splice site variant causing a spastic paraparesis phenotype in siblings
The COQ7 gene is one of the causative genes for primary COQ10 deficiency-related disorders. OMIM-related phenotypes include severe...
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An Atlas of Variant Effects to understand the genome at nucleotide resolution
Sequencing has revealed hundreds of millions of human genetic variants, and continued efforts will only add to this variant avalanche. Insufficient...
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Comprehensive genomic analysis of the SARS-CoV-2 Omicron variant BA.2.76 in **ing City, China, 2022
ObjectiveThis study aims to analyze the molecular characteristics of the novel coronavirus (SARS-CoV-2) Omicron variant BA.2.76 in **ing City, China.
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Unraveling the molecular interactions between α7 nicotinic receptor and a RIC3 variant associated with backward speech
Recent work putatively linked a rare genetic variant of the chaperone Resistant to Inhibitors of acetylcholinesterase ( RIC3 ) (NM_024557.4:c.262G > A,...
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Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance
BackgroundGenomic DNA reference materials are widely recognized as essential for ensuring data quality in omics research. However, relying solely on...
