Severe COVID Clues: Autoantibodies, Gene Mutations
New research from the National Institutes of Health and other institutions suggests that some people have antibodies that are misguided, called autoantibodies, that attack the...
Tag : Mutations
Mutations Strengthened SARS-CoV-2 Infectivity.
Related Articles Mutations Strengthened SARS-CoV-2 Infectivity. J Mol Biol. 2020 09 04;432(19):5212-5226 Authors: Chen J, Wang R, Wang M, Wei GW Abstract Severe acute respiratory...
Researchers elucidate the impact of genetic mutations in cocaine addiction
Cocaine addiction is a chronic disorder with a high rate of relapse for which no effective treatment is currently available. Source link...
New brain cell-like nanodevices work together to identify mutations in viruses
These systems could potentially overcome computational hurdles faced by current digital technologies Credit: Dr. R. Stanley Williams In the September issue of the journal Nature,...
Machine learning demonstrates that somatic mutations imprint invariant morphologic features in myelodysplastic syndromes.
Related Articles Machine learning demonstrates that somatic mutations imprint invariant morphologic features in myelodysplastic syndromes. Blood. 2020 Sep 22;: Authors: Nagata Y, Zhao R, Awada...
Mitochondrial Point Mutations Contribute to Female Reproductive Aging, and NAD+ Upregulation Attenuates These Consequences in Mice
Today’s open access paper discusses the impact of mitochondrial DNA damage on female reproductive capabilities. Mitochondria are the power plants of the cell, a herd...
Infantile fever-triggered acute liver failure caused by novel neuroblastoma amplified sequence mutations: a case report
Infantile liver failure syndrome-2 (ILFS2) is caused by neuroblastoma amplified sequence (NBAS) mutation. The disease is characterized by recurrent episodes of acute liver failure (ALF)...
Establishment of induced pluripotent stem cell lines from a family of an ARVC patient receiving heart transplantation in infant age carrying compound heterozygous mutations in DSP gene.
Related Articles Establishment of induced pluripotent stem cell lines from a family of an ARVC patient receiving heart transplantation in infant age carrying compound heterozygous...
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project Source link...
Mutations identified in the HCV polymerase of ribavirin treated chronic hepatitis C patients cause resistance and affect viral replication fidelity.
Related Articles Mutations identified in the HCV polymerase of ribavirin treated chronic hepatitis C patients cause resistance and affect viral replication fidelity. Antimicrob Agents Chemother....
Molecular Modeling of Pathogenic Mutations in the Keratin 1B Domain.
Related Articles Molecular Modeling of Pathogenic Mutations in the Keratin 1B Domain. Int J Mol Sci. 2020 Sep 10;21(18): Authors: Hinbest AJ, Eldirany SA, Ho...
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease Source link...
Low Prevalence of GSC Gene Mutations in a Large Cohort of Predominantly Caucasian Patients with Hidradenitis Suppurativa
Hidradenitis suppurativa (HS) is a chronic dermatosis characterized by nodules and abscesses in apocrine gland–bearing sites. Mutations in three GSC genes have been identified in...
STAT Plus: Korro Bio raises $90 million to fix mutations that cause diseases
Korro Bio, a Cambridge biotechnology firm, said Thursday it has raised more than $90 million in venture capital to advance its technology to repair genetic...
Host gene editing main driving force of SARS-CoV-2 mutations
A new study published on the aRxiv preprint server in September 2020 shows that the host immune response, mediated by two RNA editors, causes the...
Targeted drug found effective in patients who have lung cancer with certain mutations
A targeted therapy called capmatinib can provide significant benefits to patients who have advanced lung cancer with specific gene mutations, according to recently published results...
Researchers show how mutations in DNA packaging machines cause cancer
Credit: UT Southwestern Medical Center DALLAS – Sept. 7, 2020 – Like wrenches made of Legos, SWI/SNF chromatin remodeling complexes tighten or loosen DNA in...
Distribution and functional consequences of somatic MAP2K1 mutations in affected skin associated with bone lesions in melorheostosis
Melorheostosis (OMIM #155950) is a rare disease of benign bone overgrowth (Freyschmidt, 2001) (Supplementary figure 1). We recently described somatic activating mutations in MAP2K1 in...
Cardiac phenotypic spectrum of KCNT1 mutations.
Related Articles Cardiac phenotypic spectrum of KCNT1 mutations. Cardiol Young. 2020 Sep 04;:1-5 Authors: Kohli U, Ravishankar C, Nordli D Abstract We report a 10-month-old...
Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy.
Related Articles Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy. Int J Mol Sci. 2020 Aug 31;21(17): Authors: Berecki G, Helbig KL,...