Articles Tagged With: mutations
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Somatic Variants in Ras/Raf/MAPK Pathway Play a Role in Mesial Temporal Lobe Epilepsy
Eleven somatic variants enriched in the hippocampus were detected in a group of patients with drug-resistant mesial temporal lobe epilepsy (MTLE). Most somatic variants are mutations in the Ras/Raf/mitogen-activated protein kinase (MAPK) pathway. Overactivation of the Ras/Raf/MAPK pathway was detected in MTLE with somatic variants.
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COVID-19: Beware Remdesivir Resistance
Researchers reported two immunosuppressed renal transplant recipients with persistent SARS-CoV-2 infection in association with the new emergence of mutations in RNA-dependent RNA polymerase after remdesivir treatment.
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Virus, Variants, Vaccines
The emergence of SARS-CoV-2 variants may compromise the efficacy of current vaccines.
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Evolving Variants, New Vaccines: IPs Must Be Steadfast in Pandemic
Three SARS-CoV-2 variants of global concern now are in the United States, threatening to erode vaccine efficacy, undermine treatment, and increase both hospitalizations and deaths. With vaccine supply limited, masking, social distancing, and hand hygiene will be critical over the next few months.
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Vaccines Threatened, Still Effective Against COVID-19 Variants
Current vaccines are holding against an emerging array of highly transmissible SARS-COV-2 variant strains, but researchers are warning that a somewhat literal “arms race” has begun between immunization science and relentless evolution.
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Clinical and Genetic Characterizations to Diagnose Sarcoglycanopathies
Sarcoglycanopathies, caused by various genetic mutations, may cause limb-girdle forms of muscular dystrophy early in life. Although there are no specific treatments for these disorders at this time, the clinical and genetic characterizations will assist in more precise diagnosis that will be critical to develop new molecular-based therapies.
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Emerging Coronavirus Variants Narrow the Margin for Error
A highly transmissible variant of the SARS-CoV-2 virus originally from the United Kingdom is emerging rapidly in the United States, with 76 cases detected in 12 states when this report was filed.
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COVID-19 Mutations not Expected to Elude Vaccine
Despite the unknowns, veteran researchers and epidemiologists are expressing fairly high confidence that a vaccine against SARS-CoV-2 will be developed.
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Nerve Disorders from Mutations in the BSCL2 Gene
The neuromuscular syndromes caused by BSCL2 gene mutations may mimic several other disorders, including Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis.
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Ufmylation and Brain Development: Effects of Gene Mutations
Genetic mutations that can modify post-translational proteins and their interactions may result in serious developmental disorders of the brain. Ufmylation is such a process, and mutations in the genes that regulate this process may have profound effects on the developing brain.