Portable Breath-Based Volatile Organic Compound Monitoring for the Detection of COVID-19 During the Circulation of the SARS-CoV-2 Delta Variant and the Transition to the SARS-CoV-2 Omicron Variant
Sign Up to like & getrecommendations! Published in 2023 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2023.0982
Abstract: Key Points Question Can volatile organic compounds (VOCs) in exhaled breath provide diagnostic information on COVID-19 disease and SARS-CoV-2 variants? Findings In this diagnostic study with 167 participants, 4 VOC biomarkers were found to distinguish… read more here.
Keywords: omicron variant; breath; variant; covid ... See more keywords
An Engineered Alcohol Oxidase for the Oxidation of Primary Alcohols
Sign Up to like & getrecommendations! Published in 2019 at "ChemBioChem"
DOI: 10.1002/cbic.201800556
Abstract: Structure‐guided directed evolution of choline oxidase has been carried out by using the oxidation of hexan‐1‐ol to hexanal as the target reaction. A six‐amino‐acid variant was identified with a 20‐fold increased kcat compared to that… read more here.
Keywords: oxidase; engineered alcohol; oxidation; alcohol oxidase ... See more keywords
Augmented neutralization of SARS‐CoV‐2 Omicron variant by boost vaccination and monoclonal antibodies
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Immunology"
DOI: 10.1002/eji.202249841
Abstract: Effective vaccines and monoclonal antibodies have been developed against coronavirus disease 2019 (COVID‐19) caused by severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2). However, the appearance of virus variants with higher transmissibility and pathogenicity is a… read more here.
Keywords: omicron variant; omicron; vaccination; variant ... See more keywords
Integrating external controls in case–control studies improves power for rare‐variant tests
Sign Up to like & getrecommendations! Published in 2022 at "Genetic Epidemiology"
DOI: 10.1002/gepi.22444
Abstract: Large‐scale sequencing and genotyping data provide an opportunity to integrate external samples as controls to improve power of association tests. However, due to the systematic differences between genotyped samples from different studies, naively aggregating the… read more here.
Keywords: rare variant; power; external controls; variant ... See more keywords
Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders
Sign Up to like & getrecommendations! Published in 2017 at "Human Mutation"
DOI: 10.1002/humu.23303
Abstract: The closely related paralogues FOXP2 and FOXP1 encode transcription factors with shared functions in the development of many tissues, including the brain. However, while mutations in FOXP2 lead to a speech/language disorder characterized by childhood… read more here.
Keywords: transcription factors; variant; foxp2 foxp1;
The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
Sign Up to like & getrecommendations! Published in 2018 at "Human Mutation"
DOI: 10.1002/humu.23411
Abstract: Although the spliceogenic nature of the BRCA2 c.68‐7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real‐time PCR and digital PCR (dPCR), the… read more here.
Keywords: cancer risk; brca2 variant; brca2; variant ... See more keywords
Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24235
Abstract: Biallelic loss of function variants in TRIP11 encoding for the Golgi microtubule‐associated protein 210 (GMAP‐210) causes the lethal chondrodysplasia achondrogenesis type 1A (ACG1A). Loss of TRIP11 activity has been shown to impair Golgi structure, vesicular… read more here.
Keywords: 5457 81t; deep intronic; variant 5457; variant ... See more keywords
A functional variant near XCL1 gene improves breast cancer survival via promoting cancer immunity
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Cancer"
DOI: 10.1002/ijc.32855
Abstract: Most genome‐wide association studies (GWASs) identify genetic variants for breast cancer occurrence. In contrast, few are for recurrence and mortality. We conducted a GWAS on breast cancer survival after diagnosis in estrogen receptor‐positive patients, including… read more here.
Keywords: cancer; cancer survival; variant; breast cancer ... See more keywords
A rare FGF5 candidate variant (rs112475347) for predisposition to nonsquamous, nonsmall‐cell lung cancer
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Cancer"
DOI: 10.1002/ijc.34510
Abstract: A unique approach with rare resources was used to identify candidate variants predisposing to familial nonsquamous nonsmall‐cell lung cancers (NSNSCLC). We analyzed sequence data from NSNSCLC‐affected cousin pairs belonging to high‐risk lung cancer pedigrees identified… read more here.
Keywords: lung cancer; predisposition; variant; cancer ... See more keywords
Detection of highly muted coronavirus variant Omicron (B.1.1.529) is triggering the alarm for South Asian countries: Associated risk factors and preventive actions
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Medical Virology"
DOI: 10.1002/jmv.27503
Abstract: The identification of the most muted coronavirus variant is triggering alarm worldwide. The World Health Organization (WHO) designated this new variant as a variant of concern and named it Omicron (B.1.1.529) on November 26, 2021.… read more here.
Keywords: south asian; variant; omicron variant; asian countries ... See more keywords
The emergence and epidemic characteristics of the highly mutated SARS‐CoV‐2 Omicron variant
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Virology"
DOI: 10.1002/jmv.27643
Abstract: Recently, the severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) Omicron variant (B.1.1.529) was first identified in Botswana in November 2021. It was first reported to the World Health Organization (WHO) on November 24. On November… read more here.
Keywords: omicron variant; variant; highly mutated; cov omicron ... See more keywords