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"New mutation"
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New Mutants : back to school, the complete collection
\"Dani Moonstar, Karma and Wolfsbane -- the former X-Men-in-training who helped define a generation -- are back to pass their wisdom on to the next one! But how will the New Mutants react to Professor X's up-and-coming students, who think of them as \"Old Mutants\"? Find out as a new class debuts at the Xavier School -- including Prodigy, Wallflower, Wither, Surge, Elixir, Wind Dancer and more! They may be the future of their species -- if they can survive threats like the Reavers and the hate group Purity! As the latest squad comes into its own, the originals settle into new roles as mentors -- but will Wolfsbane's desire to regain her powers cause her to cross a line?\"--Back cover.
BOOK
Differential evolution algorithm with multiple mutation strategies based on roulette wheel selection
In this paper, we propose a differential evolution (DE) algorithm variant with a combination of multiple mutation strategies based on roulette wheel selection, which we call MMRDE. We first propose a new, reflection-based mutation operation inspired by the reflection operations in the Nelder–Mead method. We design an experiment to compare its performance with seven mutation strategies, and we prove its effectiveness at balancing exploration and exploitation of DE. Although our reflection-based mutation strategy can balance exploration and exploitation of DE, it is still prone to premature convergence or evolutionary stagnation when solving complex multimodal optimization problems. Therefore, we add two basic strategies to help maintain population diversity and increase the robustness. We use roulette wheel selection to arrange mutation strategies based on their success rates for each individual. MMRDE is tested with some improved DE variants based on 28 benchmark functions for real-parameter optimization that have been recommended by the Institute of Electrical and Electronics Engineers CEC2013 special session. Experimental results indicate that the proposed algorithm shows its effectiveness at cooperative work with multiple strategies. It can obtain a good balance between exploration and exploitation. The proposed algorithm can guide the search for a global optimal solution with quick convergence compared with other improved DE variants.
Journal Article
Teenage mutant ninja turtles. Volume 20, Kingdom of rats
In the wake of total destruction, the exhausted Turtles must prevent catastrophe, as disparate forces converge on New York and a sinister power-play takes shape. Following the Triceratop Invasion, New York is in ruins. Various groups jockey for control in the power vacuum, each with their own agendas and goals. But there is one who doesn't care about power or victory, only chaos... the Rat King! Will the TMNT be able to stop him from doing the unspeakable?
Book
Characteristics of glucose-6-phosphate dehydrogenase mutations in newborns with deficiency from 2021 to 2022 in the Heze area of China
Glucose-6-phosphate dehydrogenase (G6PD) deficiency has a distinct regional and ethnic heterogeneity in distribution, and information on the molecular characteristics of G6PD deficiencies in the Heze area, Shandong Province, China, is limited. We aimed to explore the incidence and genetic mutations characteristic of G6PD enzyme deficiencies in newborns in the Heze area to investigate the pathogenicity of new G6PD mutations.
We measured G6PD activity in 114,285 neonates born in the Heze area and identified 80 patients with G6PD deficiencies. The genetic mutations in G6PD in these patients were analyzed using Sanger sequencing. Functional studies were conducted by constructing eukaryotic expression vectors, transfecting them into HEK-293T and HELA cells, and measuring the mRNA and protein levels and G6PD enzymatic activity.
The incidence of G6PD deficiency in the study population was 0.07% (80/114,285). We identified 17 mutation types with a 100% G6PD mutation detection rate, with four of them being significant: c.479G>A, c.404A>T, and c.486-7C>G being globally novel mutations, while c.682G>A has never been reported in China before. Functional studies revealed that the heterozygous missense mutations c.479G>A/p.S160N and c.404A>T/p.N135I increased mRNA levels, decreased protein expression, and reduced G6PD activity.
The incidence of neonatal G6PD deficiency in the Heze area is low, and the most commonly mutated loci were c.1388G>A, c.487G>A, and c.1376G>T. Among these mutations, c.479G>A/p.S160N, and c.404A>T/p.N135I are potentially pathogenic. These mutations may cause G6PD deficiency via different mechanisms, thereby requiring further experimental investigation.
Journal Article
X-Men. Years of future past
\"In the dystopian nations of Battleworld, the mutants of New York City must fight to survive the rule of the Sentinels. At their center is Kate Pryde, a heroine tried and tested by war, and mother of the last mutant ever to be born before the purges of the Mutant Control Act. With revolution in the wind, the X-Men are not a broken team with nothing left to lose, but a desperate family with more at risk than ever before!\"--Amazon.com.
BOOK
SARS‐CoV‐2 worldwide replication drives rapid rise and selection of mutations across the viral genome: a time‐course study – potential challenge for vaccines and therapies
Scientists and the public were alarmed at the first large viral variant of SARS‐CoV‐2 reported in December 2020. We have followed the time course of emerging viral mutants and variants during the SARS‐CoV‐2 pandemic in ten countries on four continents. We examined > 383,500 complete SARS‐CoV‐2 nucleotide sequences in GISAID (Global Initiative of Sharing All Influenza Data) with sampling dates extending until April 05, 2021. These sequences originated from ten different countries: United Kingdom, South Africa, Brazil, United States, India, Russia, France, Spain, Germany, and China. Among the 77 to 100 novel mutations, some previously reported mutations waned and some of them increased in prevalence over time. VUI2012/01 (B.1.1.7) and 501Y.V2 (B.1.351), the so‐called UK and South Africa variants, respectively, and two variants from Brazil, 484K.V2, now called P.1 and P.2, increased in prevalence. Despite lockdowns, worldwide active replication in genetically and socio‐economically diverse populations facilitated selection of new mutations. The data on mutant and variant SARS‐CoV‐2 strains provided here comprise a global resource for easy access to the myriad mutations and variants detected to date globally. Rapidly evolving new variant and mutant strains might give rise to escape variants, capable of limiting the efficacy of vaccines, therapies, and diagnostic tests.
Synopsis
This 2020/21 time course study shows the rapid rise of new SARS‐CoV‐2 mutants and variants across the entire genome during worldwide viral replication. In 10 countries, 40 to 65% of mutants were C to T transitions. Viral mutations will affect vaccination programs.
We analyzed > 383,500 SARS‐CoV‐2 RNA sequences for the occurrence of mutations across the entire genome. The time course of mutations emerging between 01/2020 and 03/2021 was determined.
We initially identified ~ 10 prevalent mutations. About 77 to 100 new mutations arose concomitant with the spread of Covid‐19 between March/April 2020 and January 2021, followed by the emergence of variants in December 2020.
A study of the pathogenicity of viral mutations will help understand Covid‐19 outbreaks and symptoms. Monitoring mutant selection will aid Covid‐19 diagnosis, vaccine development and therapy. New mutants will compromise vaccine efficiency.
Among the SARS‐CoV‐2 mutants, C to U transitions at a frequency between 40 to 65% were prevalent. Cellular cytosine deaminases, possibly of the APOBEC type, likely drive viral mutagenesis.
Graphical Abstract
This 2020/21 time course study shows the rapid rise of new SARS‐CoV‐2 mutants and variants across the entire genome during worldwide viral replication. In 10 countries, 40 to 65% of mutants were C to T transitions. Viral mutations will affect vaccination programs.
Journal Article
Inferno : warzones!
\"Spinning out of the universe-shattering events of Secret Wars comes a new twist on the X-Men classic that's a whole hell of a lot hotter than you remember. Five years ago a band of demons rose up out of the fiery depths and turned Manhattan into Hell on Earth. The X-Men fought to vanquish the demon horde and... the X-Men failed. Welcome back to the Inferno. On this the fifth anniversary of Manhattan's fall, Colossus is leading a small band of mutants back into the Inferno. He doesn't know what they'll find on the other side of those flames but he knows for certain... They're not coming back without his sister.\" -- Provided by publisher.
BOOK
Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations
Background
Niemann-Pick disease type C (NPC) is a rare lysosomal neurovisceral storage disease caused by mutations in the NPC 1 (95%) or NPC2 (5%) genes. The products of
NPC1
and
NPC2
genes play considerable roles in glycolipid and cholesterol trafficking, which could consequently lead to NPC disease with variable phenotypes displaying a broad spectrum of symptoms.
Materials
In the present study 35 Iranian NPC unrelated patients were enrolled. These patients were first analysed by the Filipin Staining test of cholesterol deposits in cells for NPC diagnostics. Genomic DNA was extracted from the samples of peripheral blood leukocytes in EDTA following the manufacturer's protocol. All exon–intron boundaries and coding exons of the
NPC1
gene were amplified by polymerase chain reaction (PCR) using appropriate sets of primers. Thereafter, the products of PCR were sequenced and analysed using the NCBI database (
https://blast.ncbi.nlm.nih.gov/Blast.cgi
). The variants were reviewed by some databases including the Human Gene Mutation Database (HGMD) (
http://www.hgmd.cf.ac.uk/ac/index.php
) and ClinVar (
https://www.ncbi.nlm.nih.gov/clinvar
(. Moreover, all the variants were manually classified in terms of the American College of Medical Genetics and Genomics (ACMG) guideline.
Results
The sequence analysis revealed 20 different variations, 10 of which are new, including one nonsense mutation (c.406C > T); three small deletions, (c.3126delC, c.2920_2923delCCTG, and c.2037delG); and six likely pathogenic missense mutations, (c.542C > A, c.1970G > A, c.1993C > G, c.2821 T > C, c.2872C > G, and c.3632 T > A). Finally, the pathogenicity of these new variants was determined using the ACMG guidelines.
Conclusion
The present study aimed to facilitate the prenatal diagnosis of NPC patients in the future. In this regard, we identified 10 novel mutations, and verified that the majority of them occurred in six NPC1 exons (5, 8, 9, 13, 19, and 21), that should be considered with a high priority for Iranian patients' cost-effective evaluation.
Journal Article
Is the Next Generation Sequencing the Essential Tool for the Early Diagnostic Approach in Congenital Muscular Dystrophy? New Mutation in the Gen LMNA Associated with Serious Phenotype
Background: Laminopathies are a group of diseases caused by mutations in the LMNA gene. Congenital dystrophy of the LMN is a rare disease, with less than 100 cases described in the literature.
Objectives and Materials and Methods: We present the clinical case of a patient with congenital muscular dystrophy associated with an undescribed mutation in the LMNA gene.
Results: The patient presented progressive motor delay from 10 months with a physical examination consisting of global hypotonia, bilateral winged scapula, areflexia, hip and knee flexion posture, and positive Gowers. The patient developed progressive weakness with neck tone loss, functional impairment, and loss of gait at 5 years.
Conclusions: To date, more than 20 mutations associated with congenital LMNA muscular dystrophy have been identified, most due to a single amino acid change (aa), few due to the gain or loss of several aa as in our patient.
Journal Article
The spectrum of diseases, genetic landscape and new mutation sites of hereditary cystic kidney disease
Cystic kidney disease is common. Beyond autosomal dominant polycystic kidney disease (ADPKD), knowledge of other hereditary forms of cystic kidney disease remains limited. This study aimed to retrospectively analyse 702 patients with multiple renal cysts from the Chinese PLA General Hospital (September 2015-December 2023).
Patients suspected of having hereditary cystic kidney disease underwent next-generation sequencing (NGS) and subsequent bioinformatics analysis. Variations were assessed for pathogenicity in accordance with the American College of Medical Genetics and Genomics (ACMG) guidelines. Moreover, the ClinVar and Mastermind databases were used to identify novel mutation sites. Statistical analysis was performed using SPSS 25.0 software.
Of 702 patients, 96 (13.7%) lacked gene mutations associated with cystic kidney disease. In contrast, 606 patients (86.3%) were found to have gene mutations associated with renal cyst phenotypes, involving 23 unique mutated genes. Among these, mutations in 158 patients were categorized as variants of uncertain significance. The remaining 448 patients harboured mutations predicted by the ACMG guidelines to be pathogenic or likely pathogenic, enabling a diagnosis of hereditary cystic kidney disease. These mutations were linked to seven diseases and 10 genes. The most common was ADPKD [434 cases (96.9%)], followed by autosomal dominant tubulointerstitial kidney disease [ADTKD; six cases (1.3%)], autosomal recessive polycystic kidney disease [ARPKD; five cases (1.1%)] and tuberous sclerosis complex [two cases (0.4%)]. One case each was found for autosomal dominant polycystic liver disease,
-related disease and
-related disease. The mutated genes included
and
. Moreover, 63 novel pathogenic or likely pathogenic variants were identified.
In this study we identified 23 mutated genes linked to renal cyst phenotypes, 10 of which had pathogenic or likely pathogenic variants. These findings facilitated the diagnosis of seven hereditary cystic kidney diseases, including ADPKD, ADTKD, ARPKD and others. Furthermore, 63 novel pathogenic or likely pathogenic variants were identified.
Journal Article