Alternate mutation modalities in models of population dynamics by Jonathan Bartlett

“… Most comprehensive simulations of population dynamics use origin-fixation approaches to modeling mutations, specifically modeling mutation using the framework of the modern synthesis. …”
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Leveraging Quantum LSTM for High-Accuracy Prediction of Viral Mutations by Prashanth Choppara, Bommareddy Lokesh

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Predicting the evolution of bacterial populations with an epistatic selection-mutation model by Raul Donangelo, Hugo Fort

“…It incorporates two recently noticed phenomena related to mutations: (i) the fact that the marginal improvement from a beneficial mutation declines with increasing fitness or diminishing returns epistasis and (ii) for some hypermutator variants, the mutation rate for the bacterial DNA undergoes a sudden increase by at least one order of magnitude. …”
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Detection of gene mutation in a case of Nagashima-type palmoplantar keratoderma by CAO Yuanyuan, YUAN Zhaojun, JIN Chuanyang, WANG Tianzi, LIAO Xiaojie, LIU Hong

Subjects: “…compound heterozygous mutations…”
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How to survive the mutational meltdown: lessons from plant RNA viruses by Lafforgue, Guillaume, Lefebvre, Marie, Michon, Thierry, Elena, Santiago F.

“…Muller's ratchet refers to the irreversible accumulation of deleterious mutations in small populations, resulting in a decline in overall fitness. …”
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Oncogenic RIT1 mutations confer ferroptosis vulnerability in lung adenocarcinoma by Ruilan Ma, Dian Yang, Peng Wang, Ziyi Zhang, Xuehong Zhang, Jialiang Song, Han Liu, Shuyan Liu, Yingqiu Zhang, Lijuan Zou

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The landscape of nucleotide diversity in Drosophila melanogaster is shaped by mutation rate variation by Barroso, Gustavo V, Dutheil, Julien Y

“…Here we present a new statistical method that jointly infers the genomic landscapes of genealogies, recombination rates and mutation rates. In doing so, our model captures the effects of genetic drift, linked selection and local mutation rates on patterns of genomic variation. …”
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The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update by Lucas Bouys, Anna Vaczlavik, Isadora P. Cavalcante, Florian Violon, Anne Jouinot, Annabel Berthon, Patricia Vaduva, Stéphanie Espiard, Karine Perlemoine, Peter Kamenicky, Marie-Christine Vantyghem, Antoine Tabarin, Gérald Raverot, Cristina L. Ronchi, Ulrich Dischinger, Martin Reincke, Maria C. Fragoso, Constantine A. Stratakis, Albain Chansavang, Eric Pasmant, Bruno Ragazzon, Jérôme Bertherat, for the COMETE and ENSAT Networks

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Combined Parental Thrombophilia Gene Mutation Defects in Couples with Repeated Pregnancy Loss by Mehdi Kashifard, Zahra Basirat, Fatemeh Ramezani, Faeze Ghofrani, Masoumeh Golsorkhtabaramiri

“…Background: Several genetic mutations in female thrombotic defects have recently been shown to affect recurrent pregnancy loss (RPL); however, it is unclear which common parental mutations are involved in thrombosis-associated repeated pregnancy loss RPL. …”
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Ultrasound Radiogenomics-based Prediction Models for Gene Mutation Status in Breast Cancer by Zhai Yue, Tan Dianhuan, Lin Xiaona, Lv Heng, Chen Yan, Li Yongbin, Luo Haiyu, Dan Qing, Zhao Chenyang, Xiang Hongjin, Zheng Tingting, Sun Desheng

Subjects: “…|ultrasound|radiogenomics|breast cancer|gene mutation|prediction models…”
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Exploring the potential role of EPSPS mutations for enhanced glyphosate resistance in Nicotiana tabacum by Bingjie Li, Bingjie Li, Chen Chen, Chen Chen, Mengmeng Cui, Yuhe Sun, Jing Lv, Changbo Dai

“…In this study, we engineered two mutant variants of the tobacco EPSPS gene through amino acid substitution (TIPS-NtEPSPS and P180S-NtEPSPS). These mutated EPSPS genes were overexpressed in tobacco under the control of CaMV35S promoters. …”
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GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report by Joonhwan Lee, Byungju Ryu, Yunhee Kim, Eunyoung Lee

“…Genetic analysis revealed mutations in GMNN and DLL1. To the best of our knowledge, this is the first report on the association of SCTS with these genes.…”
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Abca4, mutated in Stargardt disease, is required for structural integrity of cone outer segments by John J. Willoughby, Abbie M. Jensen

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Mutation of isocitrate dehydrogenase indicates favorable outcomes in pan-cancer immune checkpoint blockade by Zhiyang Huang, Yingying Li, Hong Zhao, Bin Zhao

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D-stem mutation in an essential tRNA increases translation speed at the cost of fidelity. by Madison N Schrock, Krishna Parsawar, Kelly T Hughes, Fabienne F V Chevance

“…This work, taken in context with the Hirsh UGA nonsense suppressor G24A mutation in TrpT tRNA, provides genetic evidence that the post-GTP hydrolysis proofreading step by elongation factor Tu may be controlled by structural interactions in the hinge region of tRNA species. …”
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Association between the rifampicin resistance mutations and rifabutin susceptibility in Mycobacterium tuberculosis: A meta-analysis by Wenli Wang, Hongjuan Zhou, Long Cai, Tingting Yang

Subjects: “…Rifampicin resistance mutation…”
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Methylenetetrahydrofolate Reductase Enzyme Mutations and Relationship of Homocysteine Vitamin B12 and Folate Blood Levels by Tuba Günebak Şahin, Berkan Sayal, Erdal Coşgun, Tanju Besler, Sinan Beksaç

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A subpopulation of cortical neurons altered by mutations in the autism risk gene DDX3X by Michael A. Flores, Marta Garcia-Forn, Alexa von Mueffling, Praise Ola, Yeaji Park, Andrea Boitnott, Silvia De Rubeis

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The fate of recessive deleterious or overdominant mutations near mating-type loci under partial selfing by Tezenas, Emilie, Giraud, Tatiana, Véber, Amandine, Billiard, Sylvain

“…In particular, under what conditions deleterious mutations are likely to be maintained for long enough near mating-compatibility genes remains to be evaluated, especially under selfing, which generally increases the purging rate of deleterious mutations. …”
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Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene by Haibin Chen, Haibin Chen, Yudi Zhang, Xueyao Yang, Xueyao Yang, Yongzhen Li

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