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Mutation - DOAJ

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Last Updated: 04 June 2022

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Post-Transplant Thrombotic Microangiopathy due to a Pathogenic Mutation in Complement Factor I in a Patient With Membranous Nephropathy: Case Report and Review of Literature

"Thrombotic microangiopathy is characterized by microangiopathic hemolysis, thrombocytopenia, and organ injury in small vessels," the author says. Similar to primary membranous nephropathy is an immune-mediated glomerular disease linked to circulating autoantibodies, while secondary membranous nephropathy is associated with infections, drugs, cancer, or other autoimmune disorders. Despite complement being a potentially common cause of primary membranous nephropathy, primary membranous nephropathy onset, primary membranous nephropathy, has yet to be published together, but primary membranous nephropathy has not been identified as a potential cause. Herein we discuss a case of aHUS after a kidney transplant in a patient with underlying diagnosis of PLA2R antibody associated-membranous nephropathy following amputation of complement factor I. This is the first report of a patient with primary membranous nephropathy and aHUS after a kidney transplant, according to our knowledge.

Source link: https://doi.org/10.3389/fimmu.2022.909503


Using an Improved Residual Network to Identify PIK3CA Mutation Status in Breast Cancer on Ultrasound Image

"Background" is a newspaper that "Background" is a newspaper that publishes articles about phosphatidylinositol-3 kinase alpha gene mutations in breast cancer is a significant step toward developing an optimal treatment plan. " Methods and MethodsWe retrospectively collected 312 patients with pathologically confirmed breast cancer who underwent genetic analysis to determine PIK3CA mutations in breast cancer based on U. S. images. All American photographs of breast cancer patients were gathered and divided into the training set and test set. Resulting from the preliminary ImResNet model, classical machine learning schemes, and other deep learning platforms were also compared. The ImResNet model can also be used to identify PIK3CA mutations in breast cancer based on U. S. images. Conclusion: The ImResNet model predicted PIK3CA mutations based on breast U. S. images, proving a new method for noninvasive gene prediction," says ImResNet's Concluding ConclusionsThese measurements were significantly higher than other estimates.

Source link: https://doi.org/10.3389/fonc.2022.850515


Mutation in phcA Enhanced the Adaptation of Ralstonia solanacearum to Long-Term Acid Stress

"However, R. solanacearum does not grow well in acidic soils under poorer nutrient culture conditions, particularly when the pH is lower than 5. " Experimental evolution was used in this research to determine the adaptability and mechanism of the R. solanacearum experimental population in response to long-term acid stress. The competitive indices of all selected clones from C49 strains were found to be similar to the ancestor of acidic environment competivity. We found that loss of function in the phcA gene in R. solanacearum's acidity rise was linked to gene mutation mutation, which caused the population expansion of R. solanacearum in an acidic stress environment, according to the genome sequencing and functional verification.

Source link: https://doi.org/10.3389/fmicb.2022.829719


The distinguishing NS5-M114V mutation in American Zika virus isolates has negligible impacts on virus replication and transmission potential.

"However, ZIKV is capable of inducing a variety of severe medical disorders collectively described as congenital Zika syndrome. " In all the American isolates, a sequence comparison of epidemic-associated ZIKV strains from Southeast Asia with those from the United States revealed a methionine to valine substitution at residue position 114 of the NS5 protein. We investigated the effect of a NS5-M114V mutation on cell replication in mice, virulence in interferon u03b2/u03b2 receptor knockout mice, as well as replication and transmission in Aedes aegypti mosquitoes using an American isolate of ZIKV. We showed that the NS5-M114V mutation had no effect on cell proliferation, its ability to degrade STAT2, and virulence in vivo, although viremia was modestly delayed in mice. Also, NS5-M114V mutation reduced mosquito infected and dissemination rates, but had no effect on virus secretion into the saliva, according to the comment.

Source link: https://doi.org/10.1371/journal.pntd.0010426


Assessing in vivo mutation frequencies and creating a high-resolution genome-wide map of fitness costs of Hepatitis C virus.

"Hepatitis C Virus has a high mutation rate, which helps the virus adapt quickly, but fitness modifications follow. " Different methods, such as experimental or frequency-based techniques, can be used to investigate fitness costs. To better understand how various variables influenced fitness costs, we used beta regression and random forest models. Our results revealed that costs of nonsynonymous mutations were three times higher than those of synonym mutations, and nucleotides A or T mutations raised above those at C or G, with lower costs for mutations in Core and NS5B. Our results show that in vivo fitness expenditures of mutations can be both site and virus specific, reinforcing the benefit of creating in vivo fitness cost maps of viral genomes.

Source link: https://doi.org/10.1371/journal.pgen.1010179


Characterization of the chromosomal inversion associated with the Koa mutation in the mouse revealed the cause of skeletal abnormalities

"We investigated phenotypes of Koa homozygous mice and established the breakpoints of the inversion with a genetic method using recombination between two distinct chromosomal inversions in order to determine the gene responsible for the Koa phenotypes. " In comparison to a general reduction in long bones' lengths, skeletal preparation of Koa homozygotes showed significant deformity of the ribs and a wider skull with expanded zygomatic arches. According to investigators, the Koa inversion's proximal and distal breakpoints were found to be 0. 8-Mb distal to the Trsps1 gene and 0. 1-Mb distal to the Hoxc4 gene, respectively. The phenotypes of mice with the recombinant inverted chromosome revealed the localization of the Koa phenotype in the immediate area of the proximal recombinant breakpoint.

Source link: https://doi.org/10.1186/1471-2156-10-60


Heterozygosity increases microsatellite mutation rate, linking it to demographic history

"If such a process operates, it might jeopardize a key assumption at the root of population genetic theory, namely that mutation rate and population size are indpendent, because population growth would raise heterozygosity, which would in turn raise mutation rate. " Here we test this theory using both direct counting of microsatellite mutations in human cadasters and an investigation of the relationship between microsatellite length and patterns of genetically-induced heterozygosity. Conclusions We discovered that microsatellite alleles of any given length are more likely to mutate when their homologue is unusually short. Conclusion Our results show patterns that are unexpected under classical population genetic theory, where no system exists that can connect allele length to extrinsic variables such as geography or population size. ".

Source link: https://doi.org/10.1186/1471-2156-9-72


A missense mutation in PMEL17 is associated with the Silver coat color in the horse

"Abstract Background The Silver coat color, also known as Silver dapple, in the horse is characterized by the dilution of the black pigment in the hair. The Silver stallion's segregation results were obtained within one half-sib family, which included a heterozygous Silver colored stallion with 34 offspring and their 29 non-Silver dams. One single microsatellite marker close to candidate gene PMEL17 on horse chromosome 6 is widely distributed across the horse genome, with one single microsatellite marker close to the candidate gene PMEL17 on horse chromosome 6 in which we typed 41 genetic markers well distributed over the horse genome. The exon 11 mutation was present in multiple horse breeds, with no apparent connection found among non-Silver horses, with one notable exception: a chestnut colored individual who had several Silver offspring when mated to different non-Silver stallions has the exon 11 mutation. 64 Silver horses from six breeds and 85 non-Silver horses from 14 breeds were tested for the exon 11 mutation in total.

Source link: https://doi.org/10.1186/1471-2156-7-46


A missense mutation (Q279R) in the Fumarylacetoacetate Hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation

"Analysis of FAH expression in liver sections obtained after resection for hepatocellular carcinoma revealed a mosaic pattern of expression. " The expression of the protein was due to the mutation correction of the Q279R mutation, according to the results of the analysis of DNA from a FAH-expressing region. To determine whether Q279R RNA was present in liver cells and in fibroblasts from the patient, RT-PCR was used to determine if Q279R RNA was present in the liver cells and in fibroblasts. Normal mRNA was discovered in the liver region, where the mutation had reverted, while splicing intermediates were discovered in non-expressing areas, indicating that the Q279R mutation was a splicing mutation in vivo. Sequence of transcripts shows skipping of exon 8 alone or together with exon 9. Moreover, FAH expression can be partially restored in certain liver cells as a result of the Q279R mutation's revival and expansion of the corrected cells. ".

Source link: https://doi.org/10.1186/1471-2156-2-9

* 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