Identification of HNF4A Mutation p.T130I and HNF1A Mutations p.I27L and p.S487N in a Han Chinese Family with Early-Onset Maternally Inherited Type 2 Diabetes by Ying Yang, Tai-Cheng Zhou, Yong-Ying Liu, Xiao Li, Wen-Xue Wang, David M. Irwin, Ya-Ping Zhang

“…We demonstrated that mutation p.T130I in HNF4A was pathogenic as were the predicted polymorphisms p.I27L and p.S487N in HNF1A by genetic and functional analysis. Our results show that mutations in HNF4A and HNF1A genes might account for this early-onset inherited type 2 diabetes.…”
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Unveiling the role of long non-coding RNAs in chicken immune response to highly pathogenic avian influenza H5N1 infection by Thi Hao Vu, Chaeeun Kim, Anh Duc Truong, Jun-Mo Kim, Hyun S. Lillehoj, Yeong Ho Hong

“…Our results revealed a higher number of DE lncRNAs and mRNAs at 1 dpi and 3 dpi, respectively, compared to control, with resistant chickens exhibiting a notably stronger immune response than susceptible chickens at 3 dpi. Functional analysis implicated these lncRNAs in immune-related pathways crucial for host responses to H5N1 viral infection. …”
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Key wound healing genes as diagnostic biomarkers and therapeutic targets in uterine corpus endometrial carcinoma: an integrated in silico and in vitro study by Fuchuan Jiang, Sajjad Ahmad, Sadia kanwal, Yasir Hameed, Qian Tang

“…Genetic alteration analysis indicated frequent mutations in FN1 and KDM6A, although these did not significantly affect survival. Functional analysis using the CancerSEA database highlighted the involvement of these genes in critical cancer-related processes, including angiogenesis, apoptosis, and metastasis. …”
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Free-caged rearing modes regulate chicken intestinal metabolism by influencing gut microbial homeostasis by Tao Li, Peng Wang, Zhuo Zhi, Tong Guo, Jie Zhou, Huiya Zhang, Chang Cao, Yingjie Cai, Yuxiao Li, Jianqin Zhang

“…ET225 and Massilistercora timonensis were positively associated with certain phospholipids and plant-derived metabolites, while negatively correlated with others like demissidine and acylcarnitine. Functional analysis revealed that rearing modes impact gut metabolites involved in gut metabolism as well as broader processes such as signal transduction, protein digestion, and autophagy. …”
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Genome-Wide Expression Difference of MicroRNAs in Basal Cell Carcinoma by Hai-Peng Wei, Song Zhan, Qing-An Zhu, Zhen-Juan Chen, Xian Feng, Jun-Yuan Chen, Qi-Lin Zhang, Jingjie Zhao, Lingzhang Meng

“…In order to validate the sRNA-seq data, expression of 15 randomly selected DEMs was measured using the TaqMan probe-based quantitative real-time PCR. Functional analysis of predicted target genes of DEMs in BCCs shows that these miRNAs are primarily involved in various types of cancers, immune response, epithelial growth, and morphogenesis, as well as energy production and metabolism, indicating that BCC development is caused, at least in part, by changes in miRNA regulation for biological and disease processes. …”
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A multiresolution approach with method-informed statistical analysis for quantifying lymphatic pumping dynamics by Mohammad S. Razavi, Katarina J. Ruscic, Elizabeth G. Korn, Marla Marquez, Timothy T. Houle, Dhruv Singhal, Lance L. Munn, Timothy P. Padera

“…This is driven by the absence of standardized, non-invasive, reliable, quantitative methods for real-time functional analysis of lymphatic contractility with adequate spatial and temporal resolution. …”
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Exploring RNA cargo in extracellular vesicles for pleural mesothelioma detection by Agnieszka Kraft, Michaela B. Kirschner, Vanessa Orlowski, Manuel Ronner, Caroline Bodmer, Valentina Boeva, Isabelle Opitz, Mayura Meerang

“…Interestingly, 25 of them were the sarcomatoid and epithelioid marker genes. Finally, functional analysis revealed that the PM-EV RNA cargo was associated with Epithelial-Mesenchymal transition, glycolysis, and hypoxia. …”
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Compilation and functional classification of telomere length-associated genes in humans and other animal species by E. V. Ignatieva, N. S. Yudin, D. M. Larkin

“…Among them were two orthologous genes encoding a shelterin protein (POT1 in humans and pot-2 in C. elegans). Functional analysis has shown that telomere length can be influenced by genetic variants in the genes encoding: (1) structural components of telomerase; (2) the protein components of telomeric regions (shelterin and CST complexes); (3) the proteins involved in telomerase biogenesis and regulating its activity; (4) the proteins that regulate the functional activity of the shelterin components; (5) the proteins involved in telomere replication and/or capping; (6) the proteins involved in the alternative telomere lengthening; (7) the proteins that respond to DNA damage and are responsible for DNA repair; (8) RNA-exosome components. …”
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METTL3-dependent DLG2 inhibits the malignant progression of cervical cancer by inactivating the Hippo/YAP signaling by Mei Pu, Xia Xiao, Shasha Lv, Daqing Ran, Qian Huang, Mingming Zhou, Qirong Lei, Lingshuang Kong, Qing Zhang

“…Colony formation assay, 5-Ethynyl-2’-deoxyuridine assay, flow cytometry, and transwell assays were conducted for cell functional analysis. A xenograft mouse model assay was performed to analyze tumor tumorigenesis in vivo. m6A RNA immunoprecipitation assay was used to analyze the association of METTL3 and DLG2. …”
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Gut microbiota and quantitative traits divergence at different altitude of long-tailed dwarf hamsters, Cricetulus longicaudatus by Yue Ren, Mengfan Tao, Xiaoliang Wang, Xinsheng Pu, Guangtong Guo, Kuiyou Chen, Bingyu Zhao, Yu Hou, Xin'gen Yang, Yumei Xu

“…And Providencia had significant correlation with body size. Finally, functional analysis of the gut microbiota showed changes in metabolic function that depended on elevation, and collinear network analysis showed how the gut microbiota interacts with each other. …”
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CircBAZ1B stimulates myocardial ischemia/reperfusion injury (MI/RI) by modulating miR-1252-5p/ATF3-mediated ferroptosis by Ruili Wei, Tianxiao Yang, Weihong Li, Xiqian Wang

“…Notably, activation of ATF3 transcription was demonstrated to upregulate the expression of its downstream target ACSL4. Functional analysis indicated that circBAZ1B promoted ATF3 expression via miR-1252-5p. …”
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Correlation Analysis between GDM and Gut Microbial Composition in Late Pregnancy by Genxia Li, Pan Yin, Shuhui Chu, Wanli Gao, Shihong Cui, Shuhua Guo, Yajuan Xu, Enwu Yuan, Texuan Zhu, Jie You, Junya Zhang, Manman Yang

“…Among them, the relative abundance of Clostridium_spiroforme, Eubacterium_dolichum, and Ruminococcus_gnavus was positively correlated with FBG, and Pyramidobacter_piscolens was negatively correlated with FBG, whereas there were significant differences in the abundance of five species in the G and LG groups. Functional analysis showed that there were differences in the biosynthesis and metabolism of polysaccharides, digestive system, classification, and degradation of the intestinal microbes between the NOR and GDM groups and between the G and LG groups. …”
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Genome-wide analysis of Smad and Schnurri transcription factors in C. elegans demonstrates widespread interaction and a function in collagen secretion by Mehul Vora, Jonathan Dietz, Zachary Wing, Karen George, Jun Kelly Liu, Christopher Rongo, Cathy Savage-Dunn

“…Mutations in sma-9 partially suppress the small body size phenotype of sma-3, suggesting some level of antagonism between these factors and challenging the prevailing model for Schnurri function. Functional analysis of target genes revealed a novel role in body size for genes involved in one-carbon metabolism and in the endoplasmic reticulum (ER) secretory pathway, including the disulfide reductase dpy-11. …”
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A meta-analysis of whole blood transcriptome reveals genes associated with increased neutrophil activity and T cell suppression in sepsis by T. N. Shruthi, Anbazhagan Kolandaswamy, Prabakara Somanna

“…The genes identified through functional analysis could be used as potential diagnostic, prognostic, and therapeutic targets for sepsis conditions.…”
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Functional mass spectrometry indicates anti-protease and complement activity increase with COVID-19 severity by Douglas D. Fraser, Douglas D. Fraser, Swapan Roy, Matt Kuruc, Maritza Quintero, Logan R. Van Nynatten, Gediminas Cepinskas, Gediminas Cepinskas, Haiyan Zheng, Amenah Soherwardy, Devjit Roy

“…As protein function is often not directly proportional to protein abundance, and mechanistic pathways are interconnected and under constant feedback regulatory control, functional analysis is required. In this study, we used functional mass spectrometry to measure anti-protease and complement activity in plasma obtained from coronavirus disease 2019 (COVID-19) patients. …”
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A short ncRNA modulates gene expression and affects stress response and parasite differentiation in Leishmania braziliensis by José C. Quilles, Caroline R. Espada, Lissur A. Orsine, Tânia A. Defina, Letícia Almeida, Fabíola Holetz, Angela K. Cruz

“…Herein, we present a functional analysis of one such DE ncRNA, the 147-nucleotide-long transcript ncRNA97, which is preferentially expressed in amastigotes, the replicative form within mammalian phagocytes. …”
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Comparative monocyte and T cell responses in DENV-exposed subjects from South-East Asia and DENV-naïve residents in Taiwan by Sheng-Hsuan Wang, Yun-Erh Chuang, Sia-Seng Tan, Tzu-Chuan Ho, Oscar Guey Chuen Perng, Po-Lin Chen

“…Method: In the present study, we performed a functional analysis of monocytes and T cells from people with previous DENV infection and DENV-naïve people that stimulated with DENV2 ex vivo. …”
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Prominence of Microbiota to Predict Fibrous Stenosis in Crohn’s Disease by Yang X, Pan Y, Gao CP, Li H, Zhang YH, Huang CL, Cao L, Xiao SY, Zhou Z

“…Furthermore, LEfSe analysis indicated that g_Bacteroides and g_Enterocloster could predict intestinal fibrous stenosis while p_Actinobacteria, c_Actinomycetia, c_Bacilli, o_Lactobacillales, f_Streptococcaceae and g_Streptococcus could predict CD without stenosis. Functional analysis revealed differential enrichment in five metabolic pathways at the KEGG pathway level in CD patients with fibrous stenosis, including sphingolipid metabolism, lipoic acid metabolism, and biosynthesis of neomycin, kanamycin and gentamicin. …”
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Genome-wide identification and characterization of the bZIP family in the Mangrove Plant Kandelia obovata and its role in response to stress by Yuchong Yi, Yuting Qiu, Hongyao Hu, Dandan Qin, Hechen Huang, Taiping Chen, Wenqi Zha, Yingjia Shen

“…Conclusion This study provides a comprehensive characterization and functional analysis of the bZIP gene family in K. obovata, offering new insights into their roles in plant development and environmental adaptation. …”
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Early life microbial succession in the gut follows common patterns in humans across the globe by Guilherme Fahur Bottino, Kevin S. Bonham, Fadheela Patel, Shelley McCann, Michal Zieff, Nathalia Naspolini, Daniel Ho, Theo Portlock, Raphaela Joos, Firas S. Midani, Paulo Schüroff, Anubhav Das, Inoli Shennon, Brooke C. Wilson, Justin M. O’Sullivan, Robert A. Britton, Deirdre M. Murray, Mairead E. Kiely, Carla R. Taddei, Patrícia C. B. Beltrão-Braga, Alline C. Campos, Guilherme V. Polanczyk, Curtis Huttenhower, Kirsten A. Donald, Vanja Klepac-Ceraj

“…Microbial succession patterns are conserved across infants from diverse human populations, suggesting universal developmental trajectories. Functional analysis confirmed trends in key microbial genes involved in feeding transitions and dietary exposures. …”
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