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Mutation - Crossref

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Last Updated: 04 June 2022

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Estimating somatic mutation rates by Duplex Sequencing in non-model organisms: Daphnia magna as a case study

"Identifying somatic mutations and determining mutation rates is extremely difficult," the author writes. In Daphnia magna, we'll discuss the use of Duplex Sequencing on bottlenecked WGS libraries to determine genome-wide somatic base substitution rates. We provide a framework for estimating genetic variation in D. magna's rates of somatic mutations in other non-model settings, as well as recent advancements to single molecule sequencing that can help further refine such estimates.

Source link: https://doi.org/10.1101/2022.05.31.494242


An Animation Model Generation Method Based on Gaussian Mutation Genetic Algorithm to Optimize Neural Network

"The widespread use of animation software makes it impossible for general 3D animation effects to please increasingly discerning audiences. " This paper, on the animation scene data, suggests an animation model generation scheme based on Gaussian mutation genetic algorithm to optimize neural network, as well as extracting animation model elements. The elements are integrated into the model network, the target animation model is created, and the target animation model is displayed. To a certain extent, the method in this paper enhances the animation model generation method in the previous art to a certain degree. According to historical records of the animation model design and other factors, the proposed animation model is only built according to set guidelines, and the model's composition rules cannot be changed.

Source link: https://doi.org/10.1155/2022/5106942


Acute Intermittent Porphyria: Mutation Analysis and Identification of Gene Carriers in a German Kindred by PCR-DGGE Analysis

"The most common acute porphyria is acute intermittent porphyria. " A decrease in their porphobilinogen-deaminase activity to 50% in symptomatic patients and asymptomatic gene carriers is characterized by a decrease in porphyrin biosynthesis. PBG-D is encoded by two separate mRNAs that are expressed in a tissue-specific manner. The enzyme activity in erythroblasts and other heme-forming body cells in classical AIP is reduced in erythroblasts and some other heme-forming body cells, although in the modified version of AIP, the PBG-D expression in erythroid tissues remains stable. When the heme biosynthesis is stimulated by drugs, low calory intake, alcohol intake, or infections, acute porphyria attacks can occur in gene carriers. Mutation testing by PCR-DGGE is becoming increasingly important in patients with AIP because it also allows for rapid identification of their presymptomatic relatives. Here, I illustrate this preventive tactic by comparing a German kindred of an impacted patient with the variant AIP with 17 family members.

Source link: https://doi.org/10.1159/000029859


Mitochondrial tRNACys Mutation A5823G in a Patient with Motor Neuron Disease and Temporal Lobe Epilepsy

"We found a new homoplasmic mutation in the mitochondrial cysteine tRNA of a 60-year-old Caucasian male suffering from asymmetrical pure lower motor neuron disease and temporal lobe epilepsy. " Moreover, titrations with Amytal, an inhibitor of NADH:CoQ oxidoreductase, revealed mild mitochondrial dysfunction in skeletal muscle tissue, which had been described in patients with MND in a previous study. ".

Source link: https://doi.org/10.1159/000028075


R124C Mutation of the βIGH3 Gene Leads to Remarkable Phenotypic Variability in a Greek Four-Generation Family with Lattice Corneal Dystrophy Type 1

"Here we discuss the clinical appearances and the diagnosis of the b2IGH3 gene in a Greek four-generation family with lattice corneal dystrophy type 1. We could not find a common haplotype with another CDL1 family with the R124C mutation, showing that this mutation occurs in different families in different families. We determined the ApoE genotype of all family members to investigate a possible association between the phenotypic variation and apolipoprotein E, which co-localizes with amyloid deposits in CDL1.

Source link: https://doi.org/10.1159/000050906


p53 Gene Mutation, Microsatellite Instability and Adjuvant Chemotherapy: Impact on Survival of 388 Patients with Dukes’ C Colon Carcinoma

"Two common genetic changes in colon carcinoma, p53 mutation, and microsatellite dysfunction were tested to determine their prognostic significance for cancer-specific survival and response to adjuvant chemotherapy in patients with Dukes C colon cancer patients with Dukes u2019 C colon cancer patients" were determined. The p53 tumor suppressor gene encodes for a nuclear phosphoprotein involved in DNA damage in cell division, causing DNA damage, but MSI is a characteristic feature of tumors with poor DNA mismatch repair. As a result of adjuvant chemotherapy, the cell response mechanisms in tumours with mutant p53 or MSI may vary, and this may lead to different outcomes. P53 mutation prevalence in all carcinomas was 28 percent in all carcinomas, but in proximal/transverse carcinomas, it was 19%. In order to determine whether this is an independent predictor of survival and/or response to adjuvant chemotherapy, the researchers should continue to participate in prospective, randomised clinical trials evaluating adjuvant therapy's effects.

Source link: https://doi.org/10.1159/000012079


CDKN2 Mutation Is Infrequent in German Hepatocellular Carcinoma

"In 4/26 Swiss tumors tested, a high incidence of mutations in a Chinese study contrasts with a low incidence of mutations in Japanese tumors and a CDKN2 germline mutation. " We analyzed 23 hepatocellular carcinomas from German patients for homozygous deletions of CDKN2 by coamplification with the human tyrosine hydroxylase gene and for CDKN2 mutations by PCR-single strand conformation polymorphism analysis and direct DNA sequencing.

Source link: https://doi.org/10.1159/000012066


Identification of HNF4A Mutation p.T130I and HNF1A Mutations p.I27L and p.S487N in a Han Chinese Family with Early-Onset Maternally Inherited Type 2 Diabetes

"Here, we set out to investigate the mutations and to identify the phenotypes of a Han Chinese family with early-onset maternally inherited type 2 diabetes. " Mutation p. T130I was attributed to both early-onset and late-onset diabetes, as well as downregulated HNF4A expression, but HNF1A polymorphisms p. I27L and p. S487N were linked to diabetes-related diabetes diagnosis at an early age. Genetic and functional analysis revealed that mutation p. T130I in HNF4A was pathogenic, as had been predicted polymorphisms p. I27L and p. S487N in HNF1A. Mutations in HNF4A and HNF1A genes, according to our findings, may be responsible for this early-onset type 2 diabetes in children.

Source link: https://doi.org/10.1155/2016/3582616


Inheritance of a Stable Mutation in a Family with Early-Onset Disease

"The occurrence of a few PKD1 families with ADPKD in a few PKD1 families or the increasing prevalence of the disease in subsequent generations have raised the possibility of anticipation. " The molecular basis of severe childhood PKD in typical ADPKD families remains unclear; it may include segregation of genetic codes or unidentified causes; and the two-hit mechanism.

Source link: https://doi.org/10.1159/000045940


Association of a Novel 3-Amino Acid Deletion Mutation of Apolipoprotein E (Apo E Tokyo) with Lipoprotein Glomerulopathy

"While the plasma cholesterol and triglyceride levels were normal, the serum concentrations of intermediate-density lipoprotein cholesterol and apo E were increased to 13 mg/dl and 9. 2 mg/dl, respectively. " Sequence analysis of the amplified genomic DNA fragments revealed a 9-bp deletion in exon 4 of the apo E gene, resulting in a 3-amino acid deletion. This novel mutation involves the region of the apo E molecule that is known to be highly involved in binding to its receptor, and it could well convert the apo E molecule, an inefficient ligand, to its receptor. ".

Source link: https://doi.org/10.1159/000045513

* 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