DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders by Dandan Wu, Ran Chen, Jerry Zhang, Wu Yan, Mengyin Chen, Dongqing Xia, Xiaonan Li, Yanyan Dai, Yinhua Chen, Rong Li

“…Regarding the pathogenicity of CNVs, 91 (57.96%, 91/157) were identified as pathogenic, 28 (17.83%, 28/157) as variants of uncertain clinical significance (VOUS), and 38 (24.20%, 38/157) as benign according to the American College of Medical Genetics and Genomics (ACMG).Using a specific sign-scoring scale, the proportion of pathogenic CNVs in children graded 1 point or higher (64%, 58/91) was significantly higher than that of non-pathogenic CNVs (43%, 29/66) (P < 0.05). …”
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Phage-mediated virulence loss and antimicrobial susceptibility in carbapenem-resistant Klebsiella pneumoniae by Yanshuang Yu, Mengzhu Wang, Liuying Ju, Minchun Li, Mengshi Zhao, Hui Deng, Christopher Rensing, Qiu E. Yang, Shungui Zhou

“…Herein, we conducted evolutionary experiments, genomic analysis, and CRISPR-mediated gene editing, to illustrate the evolutionary trajectory occurring between phages and their hosts. …”
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MLL4 regulates postnatal palate growth and midpalatal suture development by Jung-Mi Lee, Hunmin Jung, Bruno de Paula Machado Pasqua, Yungki Park, Qinghuang Tang, Shin Jeon, Shin Jeon, Soo-Kyung Lee, Jae W. Lee, Hyuk-Jae Edward Kwon

“…Whole-mount and histological staining at perinatal stages identified that the midline defects in the Mll4-cKO mice emerged as early as 1 day prior to birth, presenting as a widened midpalatal suture, accompanied by increased cell apoptosis in the suture mesenchyme. Genome-wide mRNA expression analysis of the midpalatal suture tissue revealed that MLL4 is essential for the timely expression of major cartilage development genes, such as Col2a1 and Acan, at birth. …”
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A rare deleterious missense mutation in the AXIN2 gene in Chinese women with polycystic ovary syndrome by Ying Zhang, Yu Chen, Fa-Ying Liu, Jing-Wen Fu, Xian-Xian Liu, Jun Tan, Ou-Ping Huang, Yang Zou

“…The causative factors of PCOS are complex, and genetic structure remains a long-standing medical challenge in genetics. Previous genome-wide association study (GWAS) showed that Wing-less-related integration site (Wnt) signaling is the most affected pathway among PCOS-related risk genes, and genetic mutations in the Wnt/β-catenin signaling may lead to abnormal development of PCOS.Objective To explore the possibility of axis inhibitor-2 (AXIN2) variants in Chinese women with PCOS and assess their pathogenicities.Methods A total of 365 Chinese women with PCOS and 905 women without PCOS as control were recruited from Jiangxi Provincial Maternal and Child Health Hospital, All of the 11 exons and flanking regions of the AXIN2 gene were amplified by polymerase chain reaction (PCR), the potential variants were analyzed by Sanger sequencing. …”
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Single-Cell RNA Sequencing Reveals LEF1-Driven Wnt Pathway Activation as a Shared Oncogenic Program in Hepatoblastoma and Medulloblastoma by Christophe Desterke, Yuanji Fu, Jenny Bonifacio-Mundaca, Claudia Monge, Pascal Pineau, Jorge Mata-Garrido, Raquel Francés

“…The analysis of LEF1 genome binding occupancy in H1 embryonic stem cells identified 141 LEF1 proximal targets activated in WNT medulloblastoma, 13 of which are involved in Wnt pathway regulation: <i>RNF43</i>, <i>LEF1</i>, <i>NKD1</i>, <i>AXIN2</i>, <i>DKK4</i>, <i>DKK1</i>, <i>LGR6</i>, <i>FGFR2</i>, <i>NXN</i>, <i>TCF7L1</i>, <i>STK3</i>, <i>YAP1</i>, and <i>NFATC4</i>. …”
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Search for biocontrol agents among endophytic lipopeptidesynthesizing bacteria <i>Bacillus</i> spp. to protect wheat plants against Greenbug aphid (<i>Schizaphis graminum</i>) by S. D. Rumyantsev, V. Y. Alekseev, A. V. Sorokan, G. F. Burkhanova, E. A. Cherepanova, I. V. Maksimov, S. V. Veselova

“…One of the criteria for searching for new bacteria active against phloem-feeding insects can be the presence of lipopeptide synthetase genes in the bacterial genome.…”
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An anoikis-related signature predicts prognosis and immunotherapy response in gastrointestinal cancers by Ruyi Liu, Ruyi Liu, Ruyi Liu, Ruyi Liu, Ruyi Liu, Yuchen Liu, Yuchen Liu, Yuchen Liu, Yuchen Liu, Yuchen Liu, Weicheng Huang, Weicheng Huang, Weicheng Huang, Weicheng Huang, Weicheng Huang, Pengxiang Chen, Pengxiang Chen, Pengxiang Chen, Pengxiang Chen, Pengxiang Chen, Yufeng Cheng, Yufeng Cheng, Yufeng Cheng, Yufeng Cheng, Yufeng Cheng

“…We aimed to explore the roles of anoikis-related genes (ARGs) in the GI cancer prognosis.MethodsWe extracted RNA sequencing and clinical data from The Cancer Genome Atlas and Gene Expression Omnibu databases for patients with esophageal cancer, gastric cancer, colon cancer and rectal cancer and identified ARGs from GeneCards and Harmonizome. …”
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Pathogenic variants of TUBB8 cause oocyte spindle defects by disrupting with EB1/CAKP5 interactions and potential treatment targeting microtubule acetylation through HDAC6 inhibiti... by Hui Luo, Jianhua Chen, Cao Li, Tian Wu, Siyue Yin, Guangping Yang, Yipin Wang, Zhihan Guo, Saifei Hu, Yanni He, Yingnan Wang, Yao Chen, Youqiang Su, Congxiu Miao, Yun Qian, Ruizhi Feng

“…Methods Using microinjection mRNA and genome engineering to reintroduce the conserved pathogenic missense variants into oocytes or in generating TUBB8 variant knock‐in mouse models, we investigated that the human deleterious variants alter microtubule nucleation and spindle assembly during meiosis. …”
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Determination of HLA Tissue Type According to the Etiology of Patients with Chronic Renal Failure by Burcu KARAKUS TURAN, Fahri UCAR, Vural Taner YILMAZ, Yahya KILINC, Sule DARBAŞ ARAS, Huseyin KOCAK, Nurten SAYIN EKINCI, Bulent AYDINLI, Habibe Sema ARSLAN

“…This study aims to investigate the association between human leukocyte antigen (HLA) alleles individuals with CKD and the different etiological subgroups of diesease. Methods: Genomic DNA was obtained from peripheral blood samples of 1,079 patients with retrospective CKD and 1,111 healthy control individuals. …”
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Allelic variants for Waxy genes in common wheat lines bred at the Lukyanenko National Grain Center by E. R. Davoyan, L. A. Bespalova, R. O. Davoyan, E. V. Agaeva, G. I. Bukreeva, Yu. S. Zubanova, D. S. Mikov, D. M. Boldakov

“…The molecular markers selected for the study allowed identification of valuable breeding material carrying both single null alleles of Wx genes and their combinations in its genome. A combination of two null alleles (Wx-A1b + Wx-D1b) was detected in 30 lines. …”
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Roles of the rpoEc-chrR-chrA operon in superoxide tolerance and β-lactam susceptibility of Stenotrophomonas maltophilia by Ren-Hsuan Ku, Hsu-Feng Lu, Li-Hua Li, Li-Hua Li, Ting-Yu Yeh, Yi-Tsung Lin, Yi-Tsung Lin, Tsuey-Ching Yang

“…Although it is not a photosynthetic microorganism, a rpoE-chrR homolog (smlt2377-smlt2378) was found in the S. maltophilia genome. In this study, we aimed to assess the significance of σEc-ChrR pair in oxidative stress alleviation and antibiotic susceptibility of S. maltophilia KJ.MethodsReverse transcription-polymerase chain reaction was used to validate the presence of operon. …”
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First report of serological, molecular detection, and characterization of human parvovirus B19 infections among sickle cell anaemia patients in Khartoum State, Sudan by Khalid Salman, Sittna Hayder El Nagar, Abdel Rahim M. El Hussein, Mohammed A. El Hussein, Hadi M. Yassine, Hebah A. Al Khatib, Mashael Ali Al- Badr, Ibrahim Farah, Khalid A. Enan

“…The virus targets specific integration sites in the human genome, disrupting cellular division. However, the molecular mechanisms of infection remain poorly understood. …”
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Geographically widespread and novel hemotropic mycoplasmas and bartonellae in Mexican free-tailed bats and sympatric North American bat species by Daniel J. Becker, Kristin E. Dyer, Lauren R. Lock, Beckett L. Olbrys, Shawn A. Pladas, Anushka A. Sukhadia, Bret Demory, Juliana Maria Nunes Batista, Micaela Pineda, Nancy B. Simmons, Amanda M. Adams, Winifred F. Frick, M. Teague O'Mara, Dmitriy V. Volokhov

“…The substantial diversity and seasonality of hemoplasmas and bartonellae observed here suggest that additional longitudinal, genomic, and immunological studies in bats are warranted to inform One Health approaches.IMPORTANCEBats have been intensively sampled for viruses but remain mostly understudied for bacterial pathogens. …”
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Genetic profiling of multidrug-resistant Acinetobacter baumannii from a tertiary care center in Malaysia by Aisyah Syakirah Shahari, Navindra Kumari Palanisamy, Fadzilah Mohd Nor

“…This study aimed to characterize antibiotic resistance, genomic location, and genetic relatedness among the A. baumannii isolates obtained from a tertiary hospital in Malaysia. …”
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N6-methyladenosine RNA modification regulates the transcription of SLC7A11 through KDM6B and GATA3 to modulate ferroptosis by Haisheng Zhang, Cheng Yi, Jianing Li, Yunqing Lu, Haoran Wang, Lijun Tao, Jiawang Zhou, Yonghuang Tan, Jiexin Li, Zhuojia Chen, Gholamreza Asadikaram, Jie Cao, Jianxin Peng, Wanglin Li, Junming He, Hongsheng Wang

“…The dm6ACRISPR system was utilized for the demethylation of specific transcripts. The Cancer Genome Atlas Program (TCGA) database and immunohistochemistry validated the role of the METTL3/SLC7A11 axis in cancer progression. …”
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Emerging Resistance and Virulence Patterns in <i>Salmonella enterica</i>: Insights into Silver Nanoparticles as an Antimicrobial Strategy by Irina Gheorghe-Barbu, Ilda Czobor Barbu, Rareș-Ionuț Dragomir, Ioana Cristina Marinaș, Miruna Silvia Stan, Radu Pericleanu, Andreea Ștefania Dumbravă, Liviu-Iulian Rotaru, Simona Paraschiv, Leontina Mirela Bănică, Ionuț Pecete, Dan Oțelea, Violeta Corina Cristea, Mircea Ioan Popa, Marilena Monica Țânțu, Marius Surleac

“…., <i>invA</i>, <i>spvC</i>, <i>pldA</i>, and <i>held</i>). Whole-genome sequencing (WGS) was performed on 19 selected isolates. …”
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Structural and functional features of phytoene synthase isoforms PSY1 and PSY2 in pepper Capsicum annuum L. cultivars by E. A. Dyachenko, M. A. Filyushin, G. I. Efremov, E. A. Dzhos, A. V. Shchennikova, E. Z. Kochieva

“…A key regulator of carotenoid biosynthesis is the phytoene synthase encoded by the PSY gene. The Capsicum annuum genome contains two isoforms of this enzyme, localized in leaf (PSY2) and fruit (PSY1) plastids. …”
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Rumen DNA virome and its relationship with feed efficiency in dairy cows by Xiaohan Liu, Yifan Tang, Hongyi Chen, Jian-Xin Liu, Hui-Zeng Sun

“…Additionally, 2,232 vOTU-host metagenome-assembled genome (hMAG) linkages were predicted, with Firmicutes_A (33.60%) and Bacteroidota (33.24%) being the most prevalent host phyla. …”
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Expression of the NUP153 and YWHAB genes from their canonical promoters and alternative promoters of the LINE-1 retrotransposon in the placenta of the first trimester of pregnancy by V. V. Demeneva, E. N. Tolmacheva, T. V. Nikitina, E. A. Sazhenova, S. Yu. Yuriev, A. Sh. Makhmutkhodzhaev, A. S. Zuev, S. A. Filatova, A. E. Dmitriev, Ya. A. Darkova, L. P. Nazarenko, I. N. Lebedev, S. A. Vasilyev

“…The placenta has a unique hypomethylated genome. Due to this feature of the placenta, there is a potential possibility of using regulatory elements derived from retroviruses and retrotransposons, which are suppressed by DNA methylation in the adult body. …”
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Obstructive sleep apnea and structural and functional brain alterations: a brain-wide investigation from clinical association to genetic causality by Kang Wu, Qiming Gan, Yuhong Pi, Yanjuan Wu, Wenjin Zou, Xiaofen Su, Sun Zhang, Xinni Wang, Xinchun Li, Nuofu Zhang

“…Additionally, large-scale Mendelian randomization analyses were performed using genome-wide association study (GWAS) data on OSA and 3935 brain imaging-derived phenotypes (IDPs), assessed in up to 33,224 individuals between December 2023 and March 2024, to explore potential genetic causality between OSA and alterations in whole brain structure and function. …”
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