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Mutation - PubMed

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Last Updated: 04 June 2022

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Relationship between lifespan and somatic mutation in D. melanogaster after treatment with chlorophyllin.

"Sodium copper chlorophyllin has a genetic damage inhibitory capacity due to its antioxidant activity. " SCC alone extended the lifespan of females by 20Gy of gamma rays, but in combination with 20Gy of gamma rays, the aging delay in both sexes was significant. The survivors of the tragedy of mutation increase are the people who die more quickly, and those who die without assistance are the ones with the highest mutation rate, and those who die quickly are the ones with the highest mutation load, and survivors treated with 20Gy or SCC + 20Gy died at the same rate," she said.

Source link: https://doi.org/10.1016/j.etap.2022.103891


A novel GALC gene mutation associated with adult-onset Krabbe disease: a case report.

"British magnetic resonance imaging revealed white matter hyperintensities along bilateral optic radiations. " c. 1658G > A and c. 1901T > C was found in the GALC gene by whole exome sequencing, and Sanger sequencing confirmed it. When patients presented adult-onset spastic paraplegia with classical MRI imaging techniques, it should be considered. Mutation c. 1658G > A was the first mutation in the GALC gene and broaden the spectrum of mutations.

Source link: https://doi.org/10.1080/13554794.2022.2083518


Osimertinib for lung cancer cells harboring low-frequency EGFR T790M mutation.

"Osimertinib, a third-generation EGFR tyrosine kinase inhibitor, shows significant improvement in patients with EGFR T790M mutation at disease progression. The clinical value of osimertinib in patients with a low allele frequency of EGFR T790M in tissue biopsy on disease progression remains less explored. We developed erlotinib-resistant PC-9R cells and twenty single-cell sub-clones from erlotinib-sensitive lung cancer PC-9 cells using in vitro drug-escalation therapy. The low-allele frequency of EGFR T790M in the PC-9R cells and its sub-clones was reported by an allele-specific PCR, with a 100-fold greater resistance to erlotinib in the PC-9R cells and its sub-clones at 5%. Both osimertinib and erlotinib reduced tumor formation in mice injected with PC-9R cells, but not erlotinib, which was not erlotinib, caused tumor formation in mice injected with PC-9R cells, but not erlotinib, although both osimertinib and erlotinib reduced tumor formation in mice transplanted with PC-9R cells. Our results, when added together, may extend the benefit of osimertinib therapy to patients with low EGFR T790M mutation allele frequency on disease progression.

Source link: https://doi.org/10.1016/j.tranon.2022.101461


Learning the statistics and landscape of somatic mutation-induced insertions and deletions in antibodies.

"Affinity maturation is vital for increasing antibody binding affinity to antigens, which is particularly important for improving antibody affinity to antigens. " Here we discuss a probabilistic inference tool to learn the statistics of indels from repertoire sequencing results, which avoids common annotation techniques' pitfalls and biases. We applied our technology to a large database of human immunoglobulin heavy chains after validation on synthetic data. We feature distinct insertion and deletion hotspots, and we show that the distribution of lengths of indels follows a geometric pattern, placing limitations on future mechanistic models of the hypermutation process.

Source link: https://doi.org/10.1371/journal.pcbi.1010167


Primary central nervous system histiocytic sarcoma with somatic NF2 mutation: Case report and review of literature.

"Primary histiocytic sarcoma of the central nervous system is a rare lymphohematopoietic tumor originating from histiocytes. Here we discuss such a case with somatic NF2 mutations. Based on imaging findings, a 24-year-old woman was diagnosed with a homogeneously rising lesion in the right parietal lobe region and without any organ involvement. The pleomorphic tumor cells were tightly organized, according to Histological research, and the neoplastic cells were characterized by abundant eosinophilic cytoplasm, atypical nuclei, and prominent nucleoli. ".

Source link: https://doi.org/10.5414/NP301473


DNAJB2 c.184C>T mutation associated with distal hereditary motor neuropathy with rimmed vacuolar myopathy.

A group of inherited peripheral neuropathies with significant clinical and genetic heterogeneity, primarily characterized by progressive atrophy and weakness of distal muscle without clinical or electrophysiologic abnormalities, is included in "Distal hereditary motor neuropathy, also known as distal spinal muscular atrophy. Here, we introduce a dHMN patient with a homozygous c. 184C > T gene variant in the DNAJB2 gene with uncommon neuropathic and myopathic characteristics on pathological examination. ".

Source link: https://doi.org/10.5414/NP301466


Clinical phenotype of familial amyotrophic lateral sclerosis with SOD1 gene mutation mimicking proximal myopathy: A case report and literature review.

"Proximal myopathy is unusual in clinical manifestations of ALS. " The patient's peripheral blood lymphocytes were analyzed for genome information by the patient's peripheral blood lymphocytes. A heterozygous missense mutation in exon 1 at codon 50 of SOD1, as well as a heterozygous missense mutation in exon 11 of CPT1C that had never been reported before. The patient was classified as familial ALS type 1, and had a family history of autosomal dominant patterns. The possibility of underlying ALS should be considered for patients with clinical manifestations resembleing proximal myopathy.

Source link: https://doi.org/10.5414/NP301459


BRAFV600E Mutation-Responsive miRNA-222-3p Promotes Metastasis of Papillary Thyroid Cancer Cells via Snail-Induced EMT.

"Clinical results showed the significant increase-regulation of miR-222-3p in PTC; however, the role of miR-222-3p and a possible connection with BRAF mutation remains unclear. " In PTC tissues harboring BRAFV600E mutation, we found significant up-regulation of miR-222-3p in BRAFV600E mutation-positive PTC tissues containing BRAFV600E mutations as compared to BRAF wild type from collected PTC clinical samples. In B-CPAP and TPC-1 cells, exogenous expression of BRAFV600E oncoprotein raised the expression of miR-222-3p. Moreover, in situ hybridization and IHC testing of PTC clinical samples reported the connection between miR-222-3p and Snail. ".

Source link: https://doi.org/10.3389/fendo.2022.843334


A Novel Germline SDHA Gene Mutation and Co-Occurring Somatic KIT Activating Mutation in a Patient With Pediatric Central Nervous System Germ Cell Tumor: Case Report.

"Central nervous system germ cell tumors account for a heterogeneous group of primary CNS tumors. " This is the first study of a Chinese pediatric patient with simultaneous germline SDHA and somatic KIT mutations in CNS GCTs, enriching CNS GCT matrices and providing more molecular proof of clinical diagnosis and potential targeted therapy in CNS GCTs.

Source link: https://doi.org/10.3389/fonc.2022.835220

* 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