Delta variant effect on the clinical course of adolescent COVID‐19 patients
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.26166
Abstract: The clinical course of new COVID‐19 variants in adolescents is still unknown. The aim of this study is to evaluate the clinical characteristics of COVID‐19 in adolescents and compare the differences between the original version… read more here.
Keywords: effect clinical; course adolescent; clinical course; delta variant ... See more keywords
Recent Advances in Machine Learning Variant Effect Prediction Tools for Protein Engineering.
Sign Up to like & getrecommendations! Published in 2022 at "Industrial & engineering chemistry research"
DOI: 10.1021/acs.iecr.1c04943
Abstract: Proteins are Nature's molecular machinery and comprise diverse roles while consisting of chemically similar building blocks. In recent years, protein engineering and design have become important research areas, with many applications in the pharmaceutical, energy,… read more here.
Keywords: function; effect prediction; protein engineering; engineering ... See more keywords
Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency
Sign Up to like & getrecommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2210247119
Abstract: Significance Interpretation of missense variants in clinically important genes is a critical challenge. Loss-of-function (LOF) variants in SLC22A5 (OCTN2) cause Carnitine Transporter Deficiency (CTD), a rare but potentially lethal inborn error of metabolism. Motivated by… read more here.
Keywords: specific variant; protein specific; carnitine transporter; transporter deficiency ... See more keywords
Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation
Sign Up to like & getrecommendations! Published in 2022 at "Blood Advances"
DOI: 10.1182/bloodadvances.2021006416
Abstract: Key Points • In CM-TMA, variants in specific genes/regions are associated with high risk of relapse after eculizumab is discontinued.• In CM-TMA, eculizumab discontinuation is appropriate in patients with a low risk of relapse. read more here.
Keywords: effect relapse; complement; relapse; complement gene ... See more keywords