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Genetic trends and common BRCA1/2 pathogenic sequence variants in black African and Indian breast cancer patients presenting at Inkosi Albert Luthuli Central Hospital, KwaZulu-Nata...
Published 2024-05-01“…We identified 30 pathogenic BRCA1/2 sequence variants, four large genomic rearrangements and 13 variants of unknown significance. …”
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Mendelian Randomization Reveals Potential Causal Relationships Between DNA Damage Repair-Related Genes and Inflammatory Bowel Disease
Published 2025-01-01“…DNA damage repair (DDR) plays a key role in maintaining genomic stability and developing inflammatory bowel disease (IBD). …”
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Liposomal Formulation of Hydroxychloroquine Can Inhibit Autophagy In Vivo
Published 2024-12-01Get full text
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Alloplasmic recombinant lines (H. vulgare)-T. aestivum with 1RS.1BL translocation: initial genotypes for production of common wheat varieties
Published 2018-08-01“…The presence of the 1RS.1BL translocation in the genome of the Lutescens 311/00-22 form and the L-311(1)–L-311(6) alloplasmic lines isolated from it did not lead to a decrease of fertility or sterility in the plants. …”
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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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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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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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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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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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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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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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Targeted detection of endogenous LINE-1 proteins and ORF2p interactions
Published 2025-02-01“…Instead, assays for ORF2p have been limited to ectopic L1 ORF over-expression contexts and to indirect detection of endogenous ORF2p enzymatic activity, such as by the sequencing of de novo genomic insertions. Immunoassays for endogenous ORF2p have been problematic, producing apparent false positives due to cross-reactivities, and shotgun MS has not yielded reliable evidence of ORF2p peptides in biological samples. …”
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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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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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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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