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4981
Genetic Predisposition and Salt Sensitivity in a Chinese Han Population: The EpiSS Study
Published 2020-01-01“…Objectives. Genome-wide association studies and candidate gene studies have found many single nucleotide polymorphisms (SNPs) that affect salt sensitivity (SS). …”
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4982
Identification and Analysis of Melon (<i>Cucumis melo</i> L.) SHMT Gene Family Members and Their Functional Studies on Tolerance to Low-Temperature Stress
Published 2025-01-01“…In this study, eight <i>CmSHMT</i> family genes were identified from the melon genome. We predicted their chromosomal locations, physicochemical properties, gene structures, evolutionary relationships, conserved motifs, cis-acting elements of promoters, and tissue-specific expression patterns. …”
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4983
Characterization of Enterobacterales growing on selective CPE screening plates with a focus on non-carbapenemase-producing strains
Published 2025-02-01“…Fourier-transform infrared spectroscopy (FTIR) was used to analyze phenotypic similarity, and whole genome sequencing was conducted on a subset of non-CPE isolates. …”
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4984
Involvement of Cholesterol Metabolic Pathways in Recovery from Noise-Induced Hearing Loss
Published 2020-01-01“…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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4985
Identification and validation of the important role of KIF11 in the development and progression of endometrial cancer
Published 2025-01-01“…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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4986
A Novel Immune-Related lncRNA-Based Model for Survival Prediction in Clear Cell Renal Cell Carcinoma
Published 2021-01-01“…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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4987
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...
Published 2025-01-01“…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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4988
A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome
Published 2025-01-01“…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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4989
Genetic Nurture Effects on Type 2 Diabetes Among Chinese Han Adults: A Family-Based Design
Published 2025-01-01“…<b>Methods</b>: Whole-genome genotyping data of 881 offspring and/or their parents were collected. …”
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4990
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
Published 2024-06-01“…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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4991
Correlation analysis of the impact of Clonorchis sinensis juvenile on gut microbiota and transcriptome in mice
Published 2025-02-01“…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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4992
Unraveling the genetic spectrum of inherited deaf-blindness in Portugal
Published 2025-01-01“…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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4993
Probing the Dual Role of Ca<sup>2+</sup> in the <i>Allochromatium tepidum</i> LH1–RC Complex by Constructing and Analyzing Ca<sup>2+</sup>-Bound and Ca<sup>2+</sup>-Free LH1 Comple...
Published 2025-01-01“…The genome of the mildly thermophilic hot spring purple sulfur bacterium, <i>Allochromatium</i> (<i>Alc</i>.) …”
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4994
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...
Published 2025-02-01“…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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4995
DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders
Published 2025-01-01“…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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4996
MLL4 regulates postnatal palate growth and midpalatal suture development
Published 2025-01-01“…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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4997
A rare deleterious missense mutation in the AXIN2 gene in Chinese women with polycystic ovary syndrome
Published 2025-12-01“…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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4998
Single-Cell RNA Sequencing Reveals LEF1-Driven Wnt Pathway Activation as a Shared Oncogenic Program in Hepatoblastoma and Medulloblastoma
Published 2025-01-01“…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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4999
Increased methane production associated with community shifts towards Methanocella in paddy soils with the presence of nanoplastics
Published 2024-12-01“…Among 391 metagenome-assembled genomes (MAGs), the abundance of several Syntrophomonas and Methanocella MAGs increased concomitantly, suggesting that the NPs treatments stimulated the syntrophic oxidation of fatty acids. mRNA profiling further identified Methanosarcinaceae and Methanocellaceae to be the key players in the NPs-induced CH4 production. …”
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5000
Systematic identification of secondary bile acid production genes in global microbiome
Published 2025-01-01“…To bridge this gap, we employed hidden Markov models to systematically search in a large-scale and high-quality search library comprising 28,813 RefSeq multi-kingdom microbial complete genomes, enabling us to construct a secondary bile acid production gene catalog. …”
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