An Attenuated Cytomegalovirus Vaccine with a Deletion of a Viral Chemokine Gene Is Protective against Congenital CMV Transmission in a Guinea Pig Model by Michael P. Leviton, Juan C. Lacayo, K. Yeon Choi, Nelmary Hernandez-Alvarado, Andrew Wey, Mark R. Schleiss

“…We conclude that deletion of an immune modulation gene can attenuate the pathogenicity of GPCMV while resulting in a viral vaccine that retains immunogenicity and demonstrates efficacy against congenital infection and disease.…”
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Integrative genomic analyses combined with molecular dynamics simulations reveal the impact of deleterious mutations of Bcl-2 gene on the apoptotic machinery and implications in ca... by Ghazi Elamin, Ghazi Elamin, Zhichao Zhang, Depika Dwarka, Kabange Kasumbwe, John Mellem, Nompumelelo P. Mkhwanazi, Paradise Madlala, Paradise Madlala, Mahmoud E. S. Soliman

“…Multiple sequence, genetic, structural and disease phenotype analyses were applied in this study.ResultsAnalysis revealed that out of 130 mutations, approximately 8.5% of these mutations were classified as pathogenic. Furthermore, two particular variants, namely, Bcl-2G101V and Bcl-2F104L, were found to be the most deleterious across all analyses. …”
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The N‐terminal domain of gasdermin D induces liver fibrosis by reprogrammed lipid metabolism by Xue Wang, Chunyou Ning, Xingyi Cheng, Zhengzhong Wu, Dongbo Wu, Xuemei Ding, Cunxiang Ju, Zhihang Zhou, Lingfeng Wan, Wei Zhao, Peiliang Shi

“…Abstract Background The emerging incidence of pathogenic liver conditions is turning into a major concern for global health. …”
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Primary multiple cancer in practice of urological oncologist by M. D. Ter-Ovanesov, D. M. Yagudaev, A. A. Gritskevich, E. V. Anikanova, K. I. Medvedev

“…Primary multiple malignancies (PMMs) are defined as two or more malignant tumors of various pathogenic origin detected simultaneously or sequentially in one patient. …”
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Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report by Sultan Makhmetov, Kamila Temirkhanova, Saule Rakhimova, Nazerke Satvaldina, Ruslan Kalendar, Ulan Kozhamkulov, Aidos Bolatov, Mirgul Bayanova, Assiya Bazenova, Lyazzat Nazarova, Ainur Akilzhanova, Ulykbek Kairov

“…Moreover, according to various prediction tools (MutationTaster, SIFT, CADD, FATHMM-MKL, LRT, DANN, Eigen, and BayesDel), the mutation is characterized as pathogenic, which corresponds to the American College of Medical Genetics and Genomics (ACMG) classification. …”
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Evaluation of Tissue Tropism and Horizontal Transmission of a Duck Enteritis Virus Vectored Vaccine in One-Day-Old Chicken by Yassin Abdulrahim, Yingying You, Linggou Wang, Zhixiang Bi, Lihua Xie, Saisai Chen, Benedikt B. Kaufer, Armando Mario Damiani, Kehe Huang, Jichun Wang

“…Even though a recently developed DEV vector vaccine expressing the influenza hemagglutinin H5 of highly pathogenic avian influenza (DEV-H5) induces highly detectable anti-HA antibodies, safety issues hamper further vaccine development. …”
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Exploring the Impact of Citric Acid on Mitigating Sweet Potato Soft Rot and Enhancing Postharvest Quality by Yixi Chen, Linjiang Pang, Jiacheng Bai, Wenbao Yu, Yueming Zhu, Melvin Sidikie George, Zunfu Lv, Guoquan Lu

“…Soft rot, caused by the pathogen <i>Rhizopus stolonifer</i>, is a major postharvest disease affecting sweet potato (<i>Ipomoea batatas</i> (L.) …”
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Comparative growth kinetics and drug susceptibility of Mycobacterium tuberculosis lineages prevalent in Ethiopia: implications for tuberculosis treatment and management by Tesfaye Gebreyohannis Hailemariam, Tesfaye Gebreyohannis Hailemariam, Melaku Tilahun, Abay Atnafu, Tesfaye Gelanew, Tewodros Tariku Gebresilase, Mekdes Alemu Tola, Abaysew Ayele, Shewki Moga Siraj, Workineh Shibeshi, Kidist Bobosha, Liya Wassie, Yonas Hirutu, Ephrem Engidawork

“…Sub-lineage 4.1.2.1 followed by sub-lineage 4.2.2.2 had the highest maximum growth concentration (Cmax), indicating enhanced growth efficiency and adaptive traits that may increase their pathogenicity or resistance to host defenses or anti-TB drugs. …”
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Probiotic Potential of Lactic Acid Starter Cultures Isolated from a Traditional Fermented Sorghum-Millet Beverage by Stellah Byakika, Ivan Muzira Mukisa, Yusuf Byenkya Byaruhanga, Charles Muyanja

“…The cultures were examined for tolerance to acid and bile salts, bile salt hydrolase (BSH) activity, antibiotic susceptibility, biogenic amine production, mucin degradation, hydrophobicity, auto-aggregation, adherence to the ileum, coaggregation, and antimicrobial properties against selected pathogenic species. Lb. rhamnosus yoba 2012, a known probiotic, was the reference. …”
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Case Report: Prenatal diagnosis of novel compound heterozygous variants in WDR35 gene causing short-rib thoracic dysplasia 7 with or without polydactyly by Jianlong Zhuang, Junyu Wang, Zhengping Huang, Yu’e Chen, Chunnuan Chen

“…Both variants were thought of as pathogenic, which was further confirmed by Sanger sequencing and qPCR. …”
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Deployment of next-generation sequencing approach for variant detection in myocardial infarction: A concise investigation by Desaraju Suresh Bhargav, Nadeem Siddiqui, Bhadra Murthy V, Vijaya Tartte, Vanaja V

“…Conclusion: To ascertain pathogenicity and role in the emergence of MI-related disorders these genes were mapped to online databases. …”
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Diagnosis and treatment of thyroblastoma: a case report and review of literature by Xiting Chen, Xiting Chen, Lijuan Xiong, Lijuan Xiong, Hongling Liu, Haoqiang Wang, Donghai Cheng, Wei Wang, Wenyuan He, Bo Xie, Juan Zhou

“…Next-generation sequencing (NGS) confirmed the presence of germline DICER1 heterozygous pathogenic mutation at p.G1784* in patient, accompanied by the somatic hotspot mutation at p.E1813D of the RNase IIIb domain. …”
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Duodenal Organoids From Metabolic Dysfunction-Associated Steatohepatitis Patients Exhibit Absorptive and Barrier Alterations by Alia Hadefi, Morgane Leprovots, Gilles Dinsart, Maryam Marefati, Marjorie Vermeersch, Daniel Monteyne, David Pérez-Morga, Anne Lefort, Frédérick Libert, Laurine Verset, Claire Liefferinckx, Christophe Moreno, Jacques Devière, Eric Trépo, Marie-Isabelle Garcia

“…Though MASH is closely tied to metabolic risk factors, the underlying pathogenic mechanisms remain scarcely understood. Recent research has emphasized the importance of the gut-liver axis in its pathogenesis, an aspect less explored in human studies. …”
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Comprehensive Metabolomic Profiling in Adults with X-Linked Hypophosphatemia: A Case-Control Study by Luis Carlos López-Romero, José Jesús Broseta, Marta Roca-Marugán, Noemí Máñez Ramírez, Julio Hernández-Jaras

“…These findings enhance understanding of potential pathogenic mechanisms and offer a metabolic basis for further in-depth investigations into XLH.…”
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Unraveling the causal impact of smoking and its DNA methylation signatures on cardiovascular disease: Mendelian randomization and colocalization analysis by Si Cao, Youjie Zeng, Ke Pang, Minghua Chen, Ren Guo, Nayiyuan Wu, Chao Fang, Huiyin Deng, Xiaoyi Zhang, Xiaohui Xie, Wen Ouyang, Heng Yang

“…Conclusion This study uncovers the relationship between smoking, DNA methylation, and CVDs, providing new insights into the pathogenic effect of smoking on CVDs from an epigenetic perspective.…”
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Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of... by Mohammad‐Reza Ghasemi, Zahra Esmaeilizadeh, Sahand Tehrani Fateh, Hossein Sadeghi, Saman Bagheri, Farzad Hashemi‐Gorji, Morteza Sheikhi Nooshabadi, Rasoul Madannezhad, Toktam Sadat Tavabe Ghavami, Reza Mirfakhraie, Mohammad Miryounesi

“…It also identifies a novel pathogenic variant and emphasizes the importance of considering gender‐specific factors and further research to understand the underlying molecular mechanisms. …”
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On the lookout for a potential antagonist against Cryptostroma corticale—an insight through in vitro dual culture studies by Rebekka Schlößer, Rebekka Schlößer, Rebekka Schlößer, Steffen Bien, Johanna Bußkamp, Gitta Jutta Langer, Ewald Johannes Langer

“…For Test 2, only fungi which showed inhibition at distance in Test 1 were chosen and tested on different media at 25°C, the optimal growing temperature of the pathogen. In Test 3, fungi showing signs of antagonism in Test 1 were tested against C. corticale in a 6:1 ratio of potential antagonist plugs to the C. corticale plug. …”
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Case Report: Novel ADA2 variants cause atypical adenosine deaminase 2 deficiency by Haishao Yu, Haishao Yu, Shuangzhu Lin, Lin Li, Jiayi Li, Qiandui Chen, Yuheng Wu, Yangfan Qi, Wanqi Wang, Xingzhi Chang, Jie Zhang

“…DADA2 was finally confirmed by enzymology and genetic testing, and we believe this is the first reported case of the c.1082-7T&gt;A intronic variant in DADA2, and the RNA studies conducted in this case have been pivotal in assessing its pathogenicity.…”
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Management of acute bacterial meningitis in a limited resource setting: an Egyptian consensus model by Samy Zaky, Mohamed Elbadry, Maysaa A. Saeed, Hanaa Fathelbab, Fatma Abdelsalam, Mohammed Gamal Abdel-Hamid, Alshaimaa Eid, Asmaa Bakr, Amira Maher, Mona Mohammed Abdelrahman, Mohamed A. Metwally, Mahmoud Saad Berengy, Enaam Ali AlMowafy, Hassan Goabar, Amin Abdel Baki, Ahmed Corie, Osama Hammad, Entesar Elsharkawy, Ahmed Saad, Fatma Ali-Eldin, Ahmed Mahdy, Ramadan Zaky, Reham Hammad, Gamal Essmat

“…Early and appropriate antimicrobial therapy is crucial for suspected bacterial meningitis, even before the causative pathogen is identified. This is because definitive laboratory confirmation can take several days and may not always be successful. …”
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Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing by Ahmed Bouhouche, Houyam Tibar, Yamna Kriouale, Mohammed Jiddane, Imane Smaili, Naima Bouslam, Ali Benomar, Mohamed Yahyaoui, Elmostafa El Fahime

“…To identify the disease-causing mutation, we performed a whole exome sequencing and a chromosomal microarray genotyping in order to reduce the number of genetic variants to be interpreted, by focusing the data analysis only on the linked loci. The already known pathogenic missense mutation c.601G>A in GLB1 (p.R201C) was found at homozygous state in the proband V.1 and at heterozygous state in his father IV.1. …”
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