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661
Recognition of Staphylococcus aureus by the pattern recognition molecules langerin, mannan-binding lectin, and surfactant protein D: the influence of capsular polysaccharides and w...
Published 2025-01-01“…Experiments utilizing mutant S. aureus strains confirmed that WTA is a ligand for MBL, but that langerin likely interacts with an additional unknown ligand. …”
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662
Exploration of the molecular mechanism behind a novel natural genic male-sterile mutation of 1205A in Brassica napus
Published 2025-02-01“…This study presents a spontaneous recessive genic male-sterile (RGMS) mutant of 1205A, which was employed to establish two two-line hybrid production systems: 1205AB and NT7G132AB. …”
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663
Identification and characterization of soybean phytochrome-interacting factors and their potential roles in abiotic stress
Published 2024-12-01“…The heterologous expression of the GmPIF6c/GmPIL1 in an Arabidopsis mutant resulted in a reduction in the elongation of the hypocotyl in response to shade. …”
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664
Morphophysiological alterations caused by insertional mutagenesis of contactin 5 (Cntn5) gene in transgenic mice
Published 2017-02-01“…Cntn5 mutants also exhibit abnormalities in blood circulation: homozygous Cntn5 mutants are characterized by a higher blood pressure and heart beat rate, as well as faster blood flow in the tail vessels. …”
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665
In silico analysis of SNPs and miRNAs of KCTD13, CSDE1, SLC6A1 genes associated with autism spectrum disorder
Published 2025-01-01“…This data served as input for predictions, which were carried out using different computational tools like SIFT, PolyPhen-2, SNPs&GO, PROVEAN, MutationAssessor, PhD-SNP, PANTHER, SNAP-2, Meta-SNP, I-Mutant 2.0, MUpro, and Project HOPE. For miRNA analysis, the miRSNP and PolymiRTS tools were utilized. …”
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666
Role of interleukin-4 receptor α polymorphism in patients with asthma and its correlation with asthma severity
Published 2025-01-01“…It was found that the patients homozygous for mutant alleles had a 1.39-fold increased risk of asthma compared with individuals not homozygous for R576. …”
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667
Transcriptome-Based Modeling Reveals that Oxidative Stress Induces Modulation of the AtfA-Dependent Signaling Networks in Aspergillus nidulans
Published 2017-01-01“…To better understand the molecular functions of the master stress-response regulator AtfA in Aspergillus nidulans, transcriptomic analyses of the atfA null mutant and the appropriate control strains exposed to menadione sodium bisulfite- (MSB-), t-butylhydroperoxide- and diamide-induced oxidative stresses were performed. …”
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668
CRISPR/cas9 Allows for the Quick Improvement of Tomato Firmness Breeding
Published 2024-12-01“…The fruit firmness of all knockout mutants exhibited a significant enhancement, with the most pronounced improvement observed in the double mutant. …”
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669
Unraveling the heterogeneity of WHO grade 4 gliomas: insights from clinical, imaging, and molecular characterization
Published 2025-02-01“…This study aims to elucidate the clinical, radiological, and molecular characteristics of WHO Grade 4 gliomas, focusing on their prognostic implications and the development of a predictive model for astrocytoma IDH-mutant WHO Grade 4 (A4). Methods A retrospective cohort of 223 patients from Beijing Tiantan Hospital was analyzed. …”
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670
HSP60 inhibits DF-1 apoptosis through its mitochondrial signal peptide
Published 2025-01-01“…In addition, the transfection of HSP60 mutant protein (TB) into DF-1-HSP60-KO cells and induction with Bardoxolone MethyI significantly increased the apoptosis rates and reduced cell viability compared to the wild-type HSP60 group, inducing differential changes in genes such as Bax, Bak, and Bcl-2. …”
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671
Plastid-localized ZmENR1/ZmHAD1 complex ensures maize pollen and anther development through regulating lipid and ROS metabolism
Published 2024-12-01“…In this study, we identify a maize male-sterile mutant, enr1, with early tapetal degradation, defective anther cuticle, and pollen exine. …”
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672
Pathogenetic therapeutic approaches for endocrine diseases based on antisense oligonucleotides and RNA-interference
Published 2025-01-01“…The sequence-specific ASOs binding provides exceptional accuracy in N-of-1 approaches, when the oligonucleotide can be targeted to a patient’s exact mutant sequence. In this review we focus on diseases of the endocrine system and discuss potential RNA-targeted therapeutic opportunities in diabetes mellitus, including monogenic beta cell diabetes, and obesity, including syndrome obesity and monogenic obesity, as well as in non-monogenic or complex endocrine disorders. …”
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673
Polymorphism of MTHFR C677T Gene and the Associations with the Severity of Essential Hypertension in Northern Chinese Population
Published 2020-01-01“…The allelic frequency of mutant T was 55.43%. The plasma homocysteine level of the homozygous TT in individuals was significantly higher than in those with CC or CT P<0.01. …”
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674
Cell-Specific Regulation of Inflammatory Cytokines and Acute-Phase Proteins by the Glucocorticoid Receptor
Published 2023-01-01“…Dual luciferase assays were performed on transfected cell lines. Mutant CXCL2 promoters were used in dual luciferase assays to identify specific regions of the CXCL2 promoter affected by GR, TNFα, or hepatocyte nuclear factor 4α (HNF4α, a liver-enriched transcription factor). …”
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675
Functional conservation and divergence of arabidopsis VENOSA4 and human SAMHD1 in DNA repair
Published 2025-01-01“…The ven4 loss-of-function mutants showed increased DNA ploidy and deregulated DNA repair genes, suggesting DNA damage accumulation. …”
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676
NPC1 controls TGFBR1 stability in a cholesterol transport-independent manner and promotes hepatocellular carcinoma progression
Published 2025-01-01“…Notably, the NPC1 (P691S) mutant, which is defective in cholesterol transport, still binds TGFBR1, underscoring a cholesterol-independent mechanism. …”
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677
MatE transporter affects methane metabolism in Methermicoccus shengliensis and is modulated by methoxylated aromatic compounds
Published 2025-02-01“…Furthermore, we observed that the matE knock-out mutant significantly impaired the growth and methane production of M. shengliensis when using 2-methoxybenzoate as a substrate, highlighting the essential role of MatE in methoxydotrophic methanogenesis. …”
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678
Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A
Published 2022-01-01“…Bioinformatics prediction revealed that the frameshift of the c.4313dup (p.Trp1439ValfsTer32) mutant led to a coding change of 32 amino acids, followed by a stop codon, resulting in a truncated protein product. …”
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679
Altered Viral Replication and Cell Responses by Inserting MicroRNA Recognition Element into PB1 in Pandemic Influenza A Virus (H1N1) 2009
Published 2015-01-01“…MicroRNAs (miRNAs) are endogenous noncoding RNAs that spatiotemporally modulate mRNAs in a posttranscriptional manner. Engineering mutant viruses by inserting cell-specific miRNA recognition element (MRE) into viral genome may alter viral infectivity and host responses in vital tissues and organs infected with pandemic influenza A virus (H1N1) 2009 (H1N1pdm). …”
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680
RHOBTB2 Variant p.Arg511Gln Causes Developmental and Epileptic Encephalopathy Type 64 in an Infant: A Case Report and Hotspot Variant Analysis
Published 2025-01-01“…We used Discovery Studio software to analyze the folding free energy of variant proteins, and the AlphaFold database to analyze structural alterations in mutant proteins. Results The patient presented with early‐onset epilepsy, developmental delay, and brain structural abnormalities. …”
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