Involvement of Cholesterol Metabolic Pathways in Recovery from Noise-Induced Hearing Loss by Na Sai, Xi Shi, Yan Zhang, Qing-qing Jiang, Fei Ji, Shuo-long Yuan, Wei Sun, Wei-Wei Guo, Shi-Ming Yang, Wei-Ju Han

“…Both gene ontology and Kyoto Encyclopedia of Genes and Genomes (KEGG) database analyses showed that immune and metabolic pathways were prominently involved during the impairment stage of acute hearing loss. …”
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Identification and validation of the important role of KIF11 in the development and progression of endometrial cancer by Biying Wang, Lunmin Bao, Xiaoduo Li, Guang Sun, Wu Yang, Nanzi Xie, Ling Lei, Wei Chen, Hailong Zhang, Man Chen, Xing Zhao, Xiufang Wan, Rui Yuan, Hongmei Jiang

“…Functional enrichment analysis of the DEGs was conducted using Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses. DEGs were further screened for hub genes through protein–protein interaction (PPI) network analysis and machine learning. …”
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A Novel Immune-Related lncRNA-Based Model for Survival Prediction in Clear Cell Renal Cell Carcinoma by Zedan Zhang, Yanlin Tang, Yanjun Liu, Hongkai Zhuang, Enyu Lin, Lu Xie, Xiaoqiang Feng, Kaiwen Tian, Jiayi Zeng, Jiumin Liu, Yuming Yu

“…The transcription profile and clinical information were obtained from The Cancer Genome Atlas (TCGA). Immune-related gene sets and transcription factor genes were downloaded from GSEA website and Cistrome database, respectively. …”
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Exploration of the mechanism of Lithospermum erythrorhizon oil in treating atopic dermatitis based on network pharmacology and experimental validation of the PI3K-Akt pathway regul... by Weisheng Hu, Yinlan Wang, Yingjie Zhou, Junbao Shi, Zengyan Li, Xiaoling Jiang, Qinyuan Wu, Changming Zhong, Huilan Weng, Sijie Ouyang, Yuan Jing, Xianxiang Cai, Mingda Ye, Ning Huang

“…A protein-protein interaction (PPI) network was built using STRING, and functional analysis Gene Ontology (GO) and pathway enrichment Kyoto Encyclopedia of Genes and Genomes (KEGG) were performed on Metascape. A Gene-miRNA regulatory network was constructed on miRTarBase and NetworkAnalyst, with miRNA functions annotated by miEAA. …”
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A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome by Sujie Xiong, Guangyao Hu, Yao Zhou, Fei Sun, Yanlin Ma

“…Methods Cytogenetic and molecular genetic analyses of amniotic fluid via whole-genome sequencing (WGS), routine G-banded karyotype analysis, fluorescent quantitative polymerase chain reaction, and whole-exome sequencing (WES) were performed at 19 weeks. …”
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Genetic Nurture Effects on Type 2 Diabetes Among Chinese Han Adults: A Family-Based Design by Xiaoyi Li, Zechen Zhou, Yujia Ma, Kexin Ding, Han Xiao, Tao Wu, Dafang Chen, Yiqun Wu

“…<b>Methods</b>: Whole-genome genotyping data of 881 offspring and/or their parents were collected. …”
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Caractérisation des gènes de virulence des souches d’<em>Escherichia coli</em> isolées des veaux souffrant de diarrhée dans la commune de Nikki au Bénin by Kadoéito Cyrille Boko, Kétomon Pierre Challaton, Chakirath Folakè Arikè Salifou, Nestor Oscar Aguidissou, Jean-Noël Duprez, Damien Thiry, Jacques Georges Mainil, Souaïbou Farougou

“…Conclusions: Des études ultérieures sont nécessaires afin de procéder au typage sérologique et au séquençage du génome des souches d’E. coli. Il serait également nécessaire d’étendre l’échantillonnage aux autres régions du Bénin, afin de mieux évaluer le statut des élevages bovins vis-à-vis de ces souches d’E. coli isolées chez les veaux et ainsi identifier un éventuel risque zoonotique. …”
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Identification of HOXA9 methylation as an epigenetic biomarker predicting prognosis and guiding treatment choice in acute myeloid leukemia by Fei Xie, Ting-juan Zhang, Xin-long Zhang, Zi-jun Xu, Liang Qiao, Yun Wang, Yang-jing Zhao, Jun Qian, Jing-dong Zhou

“…Methods We systematically first screened the prognostic value of HOXA cluster genes methylation in AML from The Cancer Genome Atlas (TCGA) datasets. Afterwards, the candidate prognosis-related gene HOXA9 were selected for clinical relevance analysis and were further validated in another independent cohort from our research center. …”
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Correlation analysis of the impact of Clonorchis sinensis juvenile on gut microbiota and transcriptome in mice by Xueling Deng, Shitao Li, Yuhong Wu, Jiali Yao, Wei Hou, Jiangyao Zheng, Boying Liang, Xiaole Liang, Qiping Hu, Zhanshuai Wu, Zeli Tang

“…Kyoto Encyclopedia of Genes and Genomes pathway analysis further indicated involvement in circadian rhythm, as well as various detoxification and metabolic-related pathways (e.g., glutathione metabolism and glycolysis/gluconeogenesis). …”
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Unveiling the role of ASPP1 in cancer progression: pan-cancer bioinformatics and experimental validation in colorectal cancer by Keyuan Xiao, Xiang Li, Ihsan Ullah, Wenqing Hu, Kaiqiang Wang, Fan Yang, Chengyu Yang, Chunqi Feng, Liang Zong, Xinghua Li

“…Data were extracted from public resources, including The Cancer Genome Atlas (TCGA), GTEx, and the Human Protein Atlas, and analyzed via tools such as cBioPortal, GEPIA, and TIMER2. …”
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Unraveling the genetic spectrum of inherited deaf-blindness in Portugal by Telma Machado, Telmo Cortinhal, Ana Luísa Carvalho, Francisco Teixeira-Marques, Rufino Silva, Joaquim Murta, João Pedro Marques

“…Genetic variants were classified according to the American College of Medical Genetics and Genomics; only likely pathogenic or pathogenic variants were considered relevant for solved cases. …”
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Probing the Dual Role of Ca²⁺ in the <i>Allochromatium tepidum</i> LH1–RC Complex by Constructing and Analyzing Ca²⁺-Bound and Ca²⁺-Free LH1 Comple... by Mei-Juan Zou, Shuai Sun, Guang-Lei Wang, Yi-Hao Yan, Wei Ji, Zheng-Yu Wang-Otomo, Michael T. Madigan, Long-Jiang Yu

“…The genome of the mildly thermophilic hot spring purple sulfur bacterium, <i>Allochromatium</i> (<i>Alc</i>.) …”
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Association of three single nucleotide polymorphisms in the <i>LPIN1</i> gene with milk production traits in cows of the Yaroslavl breed by A. V. Igoshin, T. M. Mishakova, R. B. Aitnazarov, A. V. Ilina, D. M. Larkin, N. S. Yudin

“…It was shown by whole genome genotyping and sequencing that the Yaroslavl breed has unique genetics compared to Russian and other cattle breeds. …”
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CT45A1‐mediated MLC2 (MYL9) phosphorylation promotes natural killer cell resistance and outer cell fate in a cell‐in‐cell structure, potentiating the progression of microsatellite... by Hao‐Wei Teng, Hsiang‐Yueh Huang, Chun‐Chi Lin, Yuh‐Ching Twu, Wen‐Hao Yang, Wen‐Chun Lin, Hsin‐Yi Lan, Yen‐Yu Lin, Wei‐Lun Hwang

“…We aimed to identify the tumor‐autonomous regulators determining these heterogeneous clinical outcomes. The Cancer Genome Atlas (TCGA) dataset was used to identify regulators in MSI‐H CRC patients with unfavorable outcomes. …”
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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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Polymorphism of ITS sequences in 35S rRNA genes in Elymus dahuricus aggregate species: two cryptic species? by A. V. Rodionov, K. S. Dobryakova, N. N. Nosov, A. A. Gnutikov, E. O. Punina, A. A. Kriukov, V. S. Shneyer

“…The Core Northern St-rDNA is closely related to rDNA of P. cognata (PI 531720), a diploid species of Kyrgyzstan carrying StY variant of the St genome. The Core Northern St-rDNA is widespread among the Elymus species of Siberia and the Far East, including Yakutia and Chukotka. …”
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Transcriptome, miRNA, and degradome sequencing reveal the leaf stripe (Pyrenophora graminea) resistance genes in Tibetan hulless barley by Yue Wang, Qian Hu, Youhua Yao, Yongmei Cui, Yixiong Bai, Likun An, Xin Li, Baojun Ding, Xiaohua Yao, Kunlun Wu

“…Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis of the 8,916 DEGs identified many significantly enriched categories and pathways, of which a plant–pathogen interaction pathway, containing a total of 102 genes (100 known genes and two novel genes), was found, that was very important for the study of the leaf stripe resistance mechanism. …”
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Col1A1 as a new decoder of clinical features and immune microenvironment in ovarian cancer by Xiao Xiao, Fangyi Long, Shaolan Yu, Wengjuan Wu, Dayan Nie, Xiaoyan Ren, Wen Li, Xujuan Wang, Ling Yu, Pinghan Wang, Gang Wang

“…The LinkedOmics and INPUT2 databases were used to analyze differential gene expression in OC, This was followed by enrichment analysis using the Kyoto Encyclopedia of Genes and Genomes (KEGG) and Gene Ontology (GO) annotations to identify and predict potential signaling pathways associated with COL1A1.ResultsOur study demonstrated that COL1A1 expression was significantly elevated in OC tissues compared to normal ovarian tissues. …”
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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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