Clinical, genomic, and histopathologic diversity in cerebral cavernous malformations by Jian Ren, Daochao Wang, Leiming Wang, Chendan Jiang, An Tian, Ziwei Cui, Yeqing Ren, Lisong Bian, Gao Zeng, Guolu Meng, Yongzhi Shan, Jiantao Liang, Xinru Xiao, Jie Tang, Yukui Wei, Chuan He, Liyong Sun, Yongjie Ma, Jiaxing Yu, Guilin Li, Ming Ye, Peng Hu, Jingwei Li, Ye Li, Lijian Niu, Qianwen Li, Feng Ling, Jan-Karl Burkhardt, Hongqi Zhang, Tao Hong

“…This study aimed to clarify the clinical, genetic, and pathological features of CCMs using a multicenter cohort across three Chinese centers. …”
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Molecular and cellular aspects of the impact of secondary metabolites from common barberry and hybrid goat’s rue on the HeLa cell line by E. Yu. Zlatnik, Ya. S. Enin, O. N. Burov, E. S. Bondarenko, A. B. Sagakyants, D. S. Kutilin, Yu. V. Dzigunova, O. G. Ishonina, E. V. Shalashnaya, N. D. Ushakova

“….), as well as to conduct a model experiment and molecular genetic study to evaluate their cytotoxic effect in vitro on the HeLa cell line.Materials and methods. …”
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Comparative analysis of chloroplast genomes reveals molecular evolution and phylogenetic relationships within the Papilionoideae of Fabaceae by Qian Qin, Yanjing Dong, Jialong Chen, Bo Wang, Yuxin Peng, XinPeng Zhang, Xiaoyun Wang, Jinxiang Zeng, Guoyue Zhong, Shouwen Zhang, Xiaolang Du

“….), and Caragana (Car.) are grouped within the Inverted Repeat-Lacking Clade (IRLC). Genetic characteristic analysis revealed a plentiful presence of SSR loci, with single-nucleotide repeats and dinucleotide (A/T) repeats being the most predominant. …”
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<i>Salmonella enterica</i> serovar Schwarzengrund: Distribution, Virulence, and Antimicrobial Resistance by Monique A. Felix, Jing Han, Bijay K. Khajanchi, Yasser M. Sanad, Shaohua Zhao, Steven L. Foley

“…This study aims to better understand the genetic factors possibly contributing to the rising prevalence of <i>S.…”
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EGCG improve meat quality, restore lipid metabolism disorder and regulate intestinal flora in high-fat fed broilers by Lujia Gao, Chen Liu, Jiaqi Wu, Ying Cui, Man Zhang, Chongpeng Bi, Anshan Shan, Xiujing Dou

“…The results showed that EGCG increased lightness (L*) 24 h (P < 0.05), and decreased drip loss (P < 0.05) of chicken meat; Enhanced the presence of non-essential and flavor amino acids in muscle tissue and greatly enhanced the antioxidant capacity of broilers, leading to a noteworthy upregulation of antioxidant genes at the genetic level (P < 0.05); Reduced in blood lipids, blood glucose, liver and abdominal fat accumulation in high-fat diet-induced obese chickens (P < 0.05), markedly improved serum and liver biochemical parameters, and histological analysis results also demonstrated that EGCG markedly decreased hepatic lipid accumulation caused by HFD feeding. …”
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Using multiomic integration to improve blood biomarkers of major depressive disorder: a case-control studyResearch in context by Amazigh Mokhtari, El Chérif Ibrahim, Arnaud Gloaguen, Claire-Cécile Barrot, David Cohen, Margot Derouin, Hortense Vachon, Guillaume Charbonnier, Béatrice Loriod, Charles Decraene, Ipek Yalcin, Cynthia Marie-Claire, Bruno Etain, Raoul Belzeaux, Andrée Delahaye-Duriez, Pierre-Eric Lutz

“…Over the last few years, identifying molecular biomarkers of MDD has proven challenging, reflecting interactions among multiple environmental and genetic factors. Recently, epigenetic processes have been proposed as mediators of such interactions, with the potential for biomarker development. …”
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Liver transcriptome analysis reveals PSC-attributed gene set associated with fibrosis progression by Alena Laschtowitz, Eric L. Lindberg, Anna-Maria Liebhoff, Laura Anne Liebig, Christian Casar, Silja Steinmann, Adrien Guillot, Jun Xu, Dorothee Schwinge, Michael Trauner, Ansgar Wilhelm Lohse, Stefan Bonn, Norbert Hübner, Christoph Schramm

“…Cell type specificity assignment of those genes by using published single-cell RNA-Seq data revealed genetic disease drivers expressed by cholangiocytes (e.g. …”
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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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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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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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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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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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