X‐linked hypophosphatemic rickets: Description of seven new variants in patients followed up in reference hospitals in Rio de Janeiro
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1941
Abstract: X‐linked hypophosphatemic rickets (XLHR) is a rare genetic disease, often delayed in diagnosis due to the low degree of suspicion and limited access to sophisticated diagnostic tools that confirm the diagnosis, such as genetic testing. read more here.
Keywords: new variants; rickets description; seven new; description seven ... See more keywords
New variants of AADC deficiency expand the knowledge of enzymatic phenotypes.
Sign Up to like & getrecommendations! Published in 2020 at "Archives of biochemistry and biophysics"
DOI: 10.1016/j.abb.2020.108263
Abstract: AADC deficiency is a rare genetic disease caused by mutations in the gene of aromatic amino acid decarboxylase, the pyridoxal 5'-phosphate dependent enzyme responsible for the synthesis of dopamine and serotonin. Here, following a biochemical… read more here.
Keywords: variants aadc; deficiency expand; new variants; deficiency ... See more keywords
Impact of new variants on SARS-CoV-2 infectivity and neutralization: A molecular assessment of the alterations in the spike-host protein interactions
Sign Up to like & getrecommendations! Published in 2022 at "iScience"
DOI: 10.1016/j.isci.2022.103939
Abstract: The emergence of SARS-CoV-2 variants necessitates rational assessment of their impact on the recognition and neutralization of the virus by the host cell. We present a comparative analysis of the interactions of Alpha, Beta, Gamma,… read more here.
Keywords: new variants; sars cov; impact new; neutralization ... See more keywords
Are new variants of psoriasis therapy (IL‐17 inhibitors) safe?
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Dermatology"
DOI: 10.1111/ijd.14509
Abstract: Psoriasis is a chronic, recurrent, inflammatory, and proliferative skin disease. Its etiology has not yet been fully assessed, but undoubtedly it is a multifaceted disease. The key role in its pathomechanism is played by genetic,… read more here.
Keywords: therapy; variants psoriasis; new variants; psoriasis therapy ... See more keywords
Molecular epidemiology of SARS-CoV-2 in Cyprus
Sign Up to like & getrecommendations! Published in 2021 at "PLoS ONE"
DOI: 10.1371/journal.pone.0248792
Abstract: Whole genome sequencing of viral specimens following molecular diagnosis is a powerful analytical tool of molecular epidemiology that can critically assist in resolving chains of transmission, identifying of new variants or assessing pathogen evolution and… read more here.
Keywords: epidemiology sars; new variants; epidemiology; cyprus ... See more keywords
Deepening of In Silico Evaluation of SARS-CoV-2 Detection RT-qPCR Assays in the Context of New Variants
Sign Up to like & getrecommendations! Published in 2021 at "Genes"
DOI: 10.3390/genes12040565
Abstract: For 1 year now, the world is undergoing a coronavirus disease-2019 (COVID-19) pandemic due to the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The most widely used method for COVID-19 diagnosis is the detection of… read more here.
Keywords: detection; new variants; evaluation; qpcr assays ... See more keywords
Emergence of SARS-CoV-2 Variants in the World: How Could This Happen?
Sign Up to like & getrecommendations! Published in 2022 at "Life"
DOI: 10.3390/life12020194
Abstract: The COVID-19 pandemic has had a significant global impact, with more than 280,000,000 people infected and 5,400,000 deaths. The use of personal protective equipment and the anti-SARS-CoV-2 vaccination campaigns have reduced infection and death rates… read more here.
Keywords: new variants; sars cov; world; emergence sars ... See more keywords
New Variants of Quantum Midpoint-Type Inequalities
Sign Up to like & getrecommendations! Published in 2022 at "Symmetry"
DOI: 10.3390/sym14122599
Abstract: Recently, there has been a strong push toward creating and expanding quadrature inequalities in quantum calculus. In order to investigate various avenues for quantum inquiry, a number of quantum extensions of midpoint estimations are studied.… read more here.
Keywords: new variants; type inequalities; midpoint type; quantum midpoint ... See more keywords