Comparative abundance and diversity of populations of the Pseudomonas syringae and Soft Rot Pectobacteriaceae species complexes throughout the Durance River catchment from its Fren... by Morris, C.E., Lacroix, C., Chandeysson, C., Guilbaud, C., Monteil, C., Piry, S., Rochelle Newall, E., Fiorini, S., Van Gijsegem, F., Barny, M.A., Berge, O.

“…In contrast, Psy populations at all sites were dominated by a genetic lineage of phylogroup 2 known from other studies for its broad host range and its geographic and habitat ubiquity. …”
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The Association between Polymorphisms of Vitamin D Metabolic-Related Genes and Vitamin D3 Supplementation in Type 2 Diabetic Patients by Zhiyong Hu, ShaSha Tao, Huaqing Liu, Guotao Pan, Bingyan Li, Zengli Zhang

“…To investigate the effect of single nucleotide polymorphisms (SNPs) of the key genes in vitamin D metabolic pathway on the serum 25(OH)D level after long-term vitamin D3 supplementation and provide a theoretical basis for rational vitamin D3 supplementation in diabetic patients with different genetic backgrounds. Methods. Patients with type 2 diabetes (T2DM) who met the inclusive criteria were given 800 IU of vitamin D3 daily for 30 consecutive months. …”
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Whole-genome sequencing reveals transmission pattern and drug resistance of Mycobacterium tuberculosis intra- or inter-hosts by Feng Ding, Wanfei Liu, Chi Wu, Chi Wu, Wensi Zhang, Shuyan Chen, Shuyan Chen, Wenjie Lai, Wenjie Lai, Jiayao Qu, Jiayao Qu, Qiang Lin, Shuihua Lu, Jiuxin Qu, Jiuxin Qu

“…Sample diversity was evaluated by SNPs and transmission clusters were identified based on SNP differences of 12 or fewer in genetic clusters.ResultsExcept four samples identified as non-tuberculous mycobacteria, 282 MTB samples (181 patients) underwent mDST, with 244 samples (162 patients) undergoing pDST. …”
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Susceptibility to Ventricular Arrhythmias Resulting from Mutations in FKBP1B, PXDNL, and SCN9A Evaluated in hiPSC Cardiomyocytes by Hector Barajas-Martinez, Maya Smith, Dan Hu, Robert J. Goodrow, Colleen Puleo, Can Hasdemir, Charles Antzelevitch, Ryan Pfeiffer, Jacqueline A. Treat, Jonathan M. Cordeiro

“…Current and voltage clamp recordings, as well as confocal microscopy analysis of Ca2+ transients, were evaluated in hiPSC-CMs from the proband and compared these results with hiPSC-CMs from undiseased controls. Genetic analysis using next-generation DNA sequencing revealed heterozygous mutations in SCN9A, PXDNL, and FKBP1B in the proband. …”
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Monitoring the Concentrations of Na, Mg, Ca, Cu, Fe, and K in <i>Sargassum fusiforme</i> at Different Growth Stages by NIR Spectroscopy Coupled with Chemometrics by Sisi Wei, Jing Huang, Ying Niu, Haibin Tong, Laijin Su, Xu Zhang, Mingjiang Wu, Yue Yang

“…The effects of four spectral pretreatment methods and three wavelength selection methods, including the synergy interval partial least squares (SI-PLS) algorithm, genetic algorithm (GA), and competitive adaptive reweighted sampling method (CARS) on the model optimization, were evaluated. …”
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Spotted fever group rickettsiae in black rats, pets, and humans in Zungarococha community, A rural area in the surroundings of Iquitos, Peru by Cusi Ferradas, Guillermo Salvatierra, David Payahuanca, Winnie Contreras, Andrés M. López-Pérez, Therangika A. Hangawatte, Diana León, Bruno M. Ghersi, Ricardo Gamboa, Katia Manzanares Villanueva, Viviana Pinedo-Cancino, Risa Pesapane, Gabriela Salmón-Mulanovich, Andrés G. Lescano, Janet Foley

“…Rhipicephalus sanguineus s.l. (2/91 ticks) and Ct. felis (53/56 fleas and 55/55 flea pools) were qPCR-positive for Rickettsia spp. Recovered genetic material from 53 Ct. felis was sequenced and all were identified as Rickettsia asembonensis. …”
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Disulfidptosis-related gene signatures as prognostic biomarkers and predictors of immunotherapy response in HNSCC by Haotian Qin, Haotian Qin, Juan Xu, Yaohang Yue, Yaohang Yue, Meiling Chen, Zheng Zhang, Panpan Xu, Yan Zheng, Hui Zeng, Jian Weng, Jian Weng, Jun Yang, Fei Yu

“…Currently, the biological mechanisms of disulfidptosis-related genes (DRGs) in head and neck squamous cell carcinoma (HNSCC) remain unclear.MethodsThe study includes sections on methodologies, data sources, clinical data collection, subtype establishment, identification and analysis of differentially expressed genes, genetic variation, and the construction and validation of a DRG prognostic model. …”
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β-synuclein in cerebrospinal fluid as a potential biomarker for distinguishing human prion diseases from Alzheimer’s and Parkinson’s disease by Bing Xu, Kang Xiao, Xiaoxi Jia, Rundong Cao, Donglin Liang, Ruhan A, Weiwei Zhang, Chunjie Li, Liping Gao, Cao Chen, Qi Shi, Xiaoping Dong

“…The diagnostic groups of the 223 patients with PrDs included sporadic Creutzfeldt-Jacob disease (sCJD), genetic CJD (gCJD), fatal familial insomnia (FFI) and Gerstmann-Straussler-Scheinker (GSS). 91 patients with non-PrDs comprised Alzheimer’s disease (AD), Parkinson's disease (PD), viral encephalitis (VE) or autoimmune encephalitis (AE) were enrolled in the control groups. …”
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Fibroblast growth factor receptor 3 mutation promotes HSPB6-mediated cuproptosis in hypochondroplasia by impairing chondrocyte autophagy by Jing Chen, Dan He, Chengrun Yuan, Na Li, Baohong Shi, Conway Niu, Jiangfei Yang, Liangkai Zheng, Lin Che, Ren Xu

“…Additionally, we revealed that FGFR3 (G382D) mutation leads to enhanced ERK signaling, increased Drp1-mediated mitochondrial fission, and upregulated cuproptosis-related protein ferredoxin 1 (FDX1). Furthermore, genetic and pharmacological inhibition of the HSPB6-ERK-Drp1-FDX1 pathway partially alleviate the phenotypes of FGFR3 mutants. …”
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Spatial deconvolution from bulk DNA methylation profiles determines intratumoral epigenetic heterogeneity by Binbin Liu, Yumo Xie, Yu Zhang, Guannan Tang, Jinxin Lin, Ze Yuan, Xiaoxia Liu, Xiaolin Wang, Meijin Huang, Yanxin Luo, Huichuan Yu

“…Abstract Background Intratumoral heterogeneity emerges from accumulating genetic and epigenetic changes during tumorigenesis, which may contribute to therapeutic failure and drug resistance. …”
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Associations of HLA-G 3’UTR polymorphisms and increased HLA-G expression with gastric cancer susceptibility and prognosis by Ines Zemni, Daria Bortolotti, Sabrine Dhouioui, Sana Baroudi, Malek Ferjani, Inès Nasri, Yosr Zenzri, Md Ataur Rahman, Abdel Halim Harrath, Roberta Rizzo, Nadia Boujelbene, Inès Zidi

“…Background: Gastric cancer (GC) remains a serious health concern and is characterized by a multifactorial etiology involving both genetic and epigenetic factors. The aim of the current study was to examine the relationship between Human leukocyte antigen (HLA)-G 3’UTR polymorphisms and the expression of HLA-G in both tumor tissues and plasma samples from patients with GC in the Tunisian population. …”
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Medullary thyroid cancer in MEN2 pediatric/adolescent carriers of RET mutation: genotype/phenotype correlation and outcome in a retrospective series of 23 patients by Guenda Di Benedetto, Ignazio Barca, Laura De Gregorio, Claudia Scollo, Fiorenza Gianì, Federica Martorana, Marco Russo, Francesco Frasca, Gabriella Pellegriti, Gabriella Pellegriti, Giulia Sapuppo

“…One patient died after 9 years of follow-up at 21 years old (M918T RET+).ConclusionsFrom these data, it is clear to see the importance of genetic counseling and RET screening in all first-degree relatives of patients with proven MEN2. …”
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Neuronal cell type specific roles for Nprl2 in neurodevelopmental disorder-relevant behaviors by Brianne Dentel, Lidiette Angeles-Perez, Abigail Y. Flores, Katherine Lei, Chongyu Ren, Andrea Pineda Sanchez, Peter T. Tsai

“…Loss of function in the subunits of the GTPase-activating protein (GAP) activity toward Rags-1 (GATOR1) complex, an amino-acid sensitive negative regulator of the mechanistic target of rapamycin complex 1 (mTORC1), is implicated in both genetic familial epilepsies and Neurodevelopmental Disorders (NDDs) (Baldassari et al., 2018). …”
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Sex and APOE genotype modulate neuropsychological profile and depression in temporal lobe epilepsy by Francesco Bruno, Francesco Bruno, Patrizia Spadafora, Ida Veltri, Mario L. Cuconati, Francesca Condino, Annamaria Cerantonio, Selene De Benedittis, Beatrice M. Greco, Beatrice M. Greco, Gemma Di Palma, Olivier Gallo, Luigi Citrigno, Antonio Qualtieri, Maurizio Cundari, Maurizio Cundari, Maurizio Cundari, Francesca Cavalcanti

“…The significant cognitive deficits we observed among females carrying the APOE ε4 allele highlight previously unexplored genetic and sex-related influences on cognition. This has potential implications for personalized therapeutic strategies, emphasizing the need for targeted assessment and intervention.…”
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Plasmodium falciparum transcription factor AP2-06B is mutated at high frequency in Southeast Asia but does not associate with drug resistance by Qiyang Shi, Changhong Wang, Wenluan Yang, Xiaoqin Ma, Jianxia Tang, Jiayao Zhang, Guoding Zhu, Yinlong Wang, Yaobao Liu, Xiaoqin He

“…The DNA sequences of the artemisinin-resistant CWX and the quinoline-resistant strains PfDd2 and Pf7G8 were analyzed for the genetic diversity of AP2-06B, compared with the Pf3D7 strain as a reference sequence. …”
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Rationale and design of a multicentre randomised controlled trial on circulating tumour DNA-guided neoadjuvant treatment strategy for locally advanced rectal cancer (CINTS-R) by Bin Wu, Yi Xiao, Xiao Zhang, Tao Xu, Qian Liu, Wei Fu, Yang An, Yongheng Li, Guole Lin, Huadan Xue, Guoju Wu, Jiaolin Zhou, Hongwei Yao, Zhenjun Wang, Weijie Chen, Junyang Lu, Guannan Zhang, Xiaoyuan Qiu

“…Our previous study has shown that circulating tumour DNA (ctDNA) effectively reflects tumour burden and genetic characteristics and has significant predictive value for tumour recurrence, demonstrating great potential in guiding the choice of neoadjuvant strategies.Methods and analysis The CINTS-R trial is a multicentre, open-label, randomised controlled trial designed to evaluate the efficacy and safety of a ctDNA-guided neoadjuvant treatment strategy compared with conventional neoadjuvant therapy regime in patients with LARC. …”
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Sulfosalts and Sulfates in the Epithermal Au-Ag-Te Emmy Deposit (Khabarovsk Territory, Far East of Russia): Implications for the Mineralization Process by Tamara Yu. Yakich, Panagiotis Voudouris, Darya V. Levochskaia, Alexey K. Mazurov, Mikhail V. Shaldybin, Yuriy M. Lopushnyak, Alexey S. Ruban, Evan Dasi, Prokopiy N. Maximov, Ekaterina A. Sinkina, Ksenia V. Bestemianova, Maxim A. Rudmin

“…Such a process is of fundamental importance from a genetic point of view.…”
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An integrative analysis of ASCL1 in breast cancer and inhibition of ASCL1 increases paclitaxel sensitivity by activating ferroptosis via the CREB1/GPX4 axis by Xiaolu Yang, Xiaolu Yang, Yilun Li, Yilun Li, Yaqi Peng, Yuan Chang, Binglu He, Binglu He, Tianqi Zhang, Tianqi Zhang, Shiyu Zhang, Cuizhi Geng, Yunjiang Liu, Xiaolong Li, Jun Hao, Li Ma

“…This study aims to elucidate the function of ASCL1 in BC using bioinformatics analyses, as well as in vitro and in vivo experimental approaches.MethodsData from the TCGA, GEO, and Human Protein Atlas databases were utilized to evaluate ASCL1 expression in BC and its association with patient prognosis. Genetic alterations in ASCL1 were assessed through the COSMIC and cBioPortal databases, while the TIMER2.0 database provided insights into the relationship between ASCL1 expression and key gene mutations in BC. …”
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Causal role of plasma liposome in diabetic retinopathy: mendelian randomization (MR) study by Kai Yin, Lu Ding, Xueyan Li, Yuqi Zhang, Siyu Song, Liyuan Cao, Ruixue Deng, Min Li, Zirui Li, Qinjing Xia, Daqing Zhao, Xiangyan Li, Zeyu Wang

“…Conclusion In summary, genetic evidence suggests a causal relationship between the levels of specific lipid levels and DR. …”
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Proteomic analysis to explore potential mechanism underlying pseudomale sperm defect in Cynoglossus semilaevis by Xihong Li, Lu Li, Zhongkai Cui, Ming Li, Xuexue Sun, Zhijie Li, Zhangfan Chen, Lanqing Ding, Dongdong Xu, Wenteng Xu

“…Females of Chinese tongue sole (Cynoglossus semilaevis) grow 2–4 times faster and bigger than males, but some genetic females can sex reverse into phenotypic males (called pseudomales, ZW karyotype) that presents similar slow growth to normal males. …”
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