62 Result(s)
within
English
Human Genetics
Yumei **ao
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Article
Open AccessComprehensive evaluation of vaginal intraepithelial neoplasia development after hysterectomy: insights into diagnosis and treatment strategies
Vaginal intraepithelial neoplasia (VaIN), a precancerous lesion associated with human papillomavirus (HPV), impacts women’s health and quality of life. However, the natural progression of VaIN after hysterecto...
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Article
Association between body mass index and lymph node metastasis among women with cervical cancer: a systematic review and network meta-analysis
Lymph node status is a determinant of survival in patients with early-stage cervical cancer. However, the relationship between obesity and lymph node status remains unclear. Therefore, this systematic review a...
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Article
Variation in TaSPL6-D confers salinity tolerance in bread wheat by activating TaHKT1;5-D while preserving yield-related traits
Na+ exclusion from above-ground tissues via the Na+-selective transporter HKT1;5 is a major salt-tolerance mechanism in crops. Using the expression genome-wide association study and yeast-one-hybrid screening, we...
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Article
Open AccessMultimodal epigenetic sequencing analysis (MESA) of cell-free DNA for non-invasive colorectal cancer detection
Detecting human cancers through cell-free DNA (cfDNA) in blood is a sensitive and non-invasive option. However, capturing multiple forms of epigenetic information remains a technical and financial challenge.
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Article
Open AccessSingle-cell multiomics of the human retina reveals hierarchical transcription factor collaboration in mediating cell type-specific effects of genetic variants on gene regulation
Systematic characterization of how genetic variation modulates gene regulation in a cell type-specific context is essential for understanding complex traits. To address this question, we profile gene expressi...
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Article
Open AccessGenetic polymorphisms of GGT1 gene (rs8135987, rs5751901 and rs2017869) are associated with neoadjuvant chemotherapy efficacy and toxicities in breast cancer patients
Our previous study illustrated the predictive value of serum gamma-glutamyl transpeptidase (GGT) for neoadjuvant chemotherapy (NAC) sensitivity in breast cancer patients. In this study we aim to determine whet...
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Definition of a Novel Immunogenic Cell Death-Relevant Gene Signature Associated with Immune Landscape in Gastric Cancer
Immunogenic cell death (ICD) induces anti-tumor immunity and aids in dismantling the immunosuppressive immune microenvironment (TME), which belongs to a type of regulated cell death. The differentiation of gas...
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Open AccessIdentification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review
Townes-Brocks syndrome is a rare autosomal dominant genetic syndrome caused by mutations in SALL1. The clinical features of Townes-Brocks syndrome are highly heterogonous. Identification of new SALL1 mutations an...
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Article
Open AccessMicroRNA-361-5p acts as a biomarker for carotid artery stenosis and promotes vascular smooth muscle cell proliferation and migration
Vascular smooth muscle cells (VSMCs) dysfunction participates in carotid artery stenosis (CAS). The study aimed to examine the expression pattern of miR-361-5p in CAS patients, and explore its role in VSMCs pr...
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Article
A Comprehensive Genome-Wide Analysis of lncRNA Expression Profile during Hepatic Carcinoma Cell Proliferation Promoted by Phospholipase Cγ2
Phospholipase Cγ2 has the promotive effect on hepatic carcinoma development. Meanwhile, lncRNAs play a critical role in the pathology. Therefore, to make clear whether phospholipase Cγ2 could enhance HCC cell ...
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Open AccessSystemic interindividual epigenetic variation in humans is associated with transposable elements and under strong genetic control
Genetic variants can modulate phenotypic outcomes via epigenetic intermediates, for example at methylation quantitative trait loci (mQTL). We present the first large-scale assessment of mQTL at human genomic r...
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Article
Open AccessPCA outperforms popular hidden variable inference methods for molecular QTL map**
Estimating and accounting for hidden variables is widely practiced as an important step in molecular quantitative trait locus (molecular QTL, henceforth “QTL”) analysis for improving the power of QTL identific...
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Open AccessAn ultrapotent pan-β-coronavirus lineage B (β-CoV-B) neutralizing antibody locks the receptor-binding domain in closed conformation by targeting its conserved epitope
New threats posed by the emerging circulating variants of SARS-CoV-2 highlight the need to find conserved neutralizing epitopes for therapeutic antibodies and efficient vaccine design. Here, we identified a re...
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Correction: SIK2 maintains breast cancer stemness by phosphorylating LRP6 and activating Wnt/β-catenin signaling
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Article
Berberine attenuates hyperalgesia in mice with adenomyosis
Adenomyosis is a common gynecological disease, but its pathogenesis and treatment options are not yet completely clear. This study aimed to investigate the analgesic effect of berberine on tamoxifen-induced ne...
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Article
Open AccessBi-order multimodal integration of single-cell data
Integration of single-cell multiomics profiles generated by different single-cell technologies from the same biological sample is still challenging. Previous approaches based on shared features have only provi...
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Article
OLFM4 deficiency delays the progression of colitis to colorectal cancer by abrogating PMN-MDSCs recruitment
Chronic inflammatory bowel disease (IBD) is strongly associated with the development of colitis-associated tumorigenesis (CAT). Despite recent advances in the understanding of polymorphonuclear myeloid-derived...
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Article
Bioinformatic analysis of key pathways and genes shared between endometriosis and ovarian cancer
The purpose of the study is to identify potential key genes and pathways, using bioinformatics, underlying the potentially common molecular mechanisms between endometriosis (EMS) and ovarian cancer (OC).
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Article
DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss
Numerous computational prediction tools have been introduced to estimate the functional impact of variants in the human genome based on evolutionary constraints and biochemical metrics. However, their implemen...
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Article
SIK2 maintains breast cancer stemness by phosphorylating LRP6 and activating Wnt/β-catenin signaling
Breast cancer stem cells (BCSCs) are the main drivers of recurrence and metastasis. However, commonly used drugs rarely target BCSCs. Via screenings, we found that Salt-inducible kinase 2 (SIK2) participated i...
