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Mutation - Zenodo

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Last Updated: 04 June 2022

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Mutation signature of SARS-CoV-2 variants raises questions to their natural origins.

"I show in this research that the evolution of the SARS-CoV-2 variant Omicron does not appear to follow a Darwinian course. " Interestingly, mutations affecting the Omicron variant's spike gene are almost exclusively nonsynonymous. Moreover, a nonsynonymous substitution bias within spike gene is a common feature of both of the SARS-CoV-2 variants investigated in this study. These SARS-CoV-2 variants' spike genes are not the result of natural evolution but rather constructed molecules," I claim.

Source link: https://zenodo.org/record/6601991


A missense mutation and two synonymous variants in CYP11B1 influence the susceptibility to coronary heart disease

"Six variants were genotyped with the Agena MassARRAY device from 509 CHD patients and 509 healthy controls," the Agena MassarRAY system used from 509 CHD patients and 509 healthy controls. Using the odds ratio and 95% confidence interval by logistic regression, the correlations between CYP11B1 mutations and CHD risk were established. In addition, we found that rs5283 and rs4534 could have an effect on CHD patients' diabetes/hypertension risk.

Source link: https://zenodo.org/record/6562820


HFE H63D mutation: why are you killing your patients?

"Evidence-based medicine has shown for many years that homozygous mutations of the HFE gene H63D gene H63D are by no means negligible. " Any physician who dismisses mutations of the HFE gene H63D as medically insignificant could jeopardize patient's health and wellbeing. Patients with an HFE H63D mutation were admitted to HFE H63D mutation almost two decades early because of inadequate knowledge. " We'll discuss two patients with an HFE H63D mutation who were treated almost two decades later because of poor knowledge.

Source link: https://zenodo.org/record/6554226


Identification of a Novel CLCNKB Mutation in an Iranian Family with Bartter Syndrome Type 3

"Western genomic capture and remarkably parallel sequencing of all identified genes responsible for BS subtypes 1–u20135 were carried out to determine the biological reasons of BS," one scientist explained. Another important role of this gene in producing BS is the identification of other causative mutations in the CLCNKB gene. This is a new CLCNKB gene mutation in BS children, to the best of our knowledge, but the exact role of the CLCNKB Gly662GlyfsX12 mutation in the CBS pathogenesis is still unknown. ".

Source link: https://zenodo.org/record/6519509

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions