Xiaoxu Yang
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View article: Direct identification of <i>de novo</i> mobile element insertions from single molecule sequencing of human sperm
Direct identification of <i>de novo</i> mobile element insertions from single molecule sequencing of human sperm Open
Mobile element insertions (MEIs) are a significant source of human genetic variation, yet the rates and properties of de novo MEIs are poorly characterized due to technical limitations in sequencing technology. Here, we directly sequenced …
View article: Immune profiles of immune checkpoint molecules on peripheral T cells in multidrug resistant-tuberculosis
Immune profiles of immune checkpoint molecules on peripheral T cells in multidrug resistant-tuberculosis Open
Our results thus indicate that T cells exhibit more exhausted status in MDR-TB patients which could be reversed after the treatment. These results thus provide an alternative way to ameliorate MDR-TB treatment through improving anti-TB T c…
View article: A Universal Duplex Sequencing Approach for Accurate Detection of Somatic Mutations
A Universal Duplex Sequencing Approach for Accurate Detection of Somatic Mutations Open
Ultra-accurate detection of rare somatic mutations is critical for understanding mutational processes in human disease, aging, and environmental exposures, yet current methods are limited by error rates, restricted genome coverage, and hig…
View article: CREPE (CREate Primers and Evaluate): A Computational Tool for Large-Scale Primer Design and Specificity Analysis
CREPE (CREate Primers and Evaluate): A Computational Tool for Large-Scale Primer Design and Specificity Analysis Open
Background/Objectives: Polymerase chain reaction (PCR) is ubiquitous in biological research labs, as it is a fast, flexible, and cost-effective technique to amplify a DNA region of interest. However, manual primer design can be an error-pr…
View article: Integrated subcellular localization of functional fluorescence probes and functional analysis in motile spermatozoa by an AI-enhanced algorithm
Integrated subcellular localization of functional fluorescence probes and functional analysis in motile spermatozoa by an AI-enhanced algorithm Open
In the evaluation of male infertility, precise assessment of sperm functional competence has surpassed the requirements of conventional semen parameters. Existing computer-aided analysis systems are deficient at the molecular diagnostic le…
View article: Comprehensive analysis reveals MCM4 as a biomarker for guiding therapies and immunomodulatory role in skin cutaneous melanoma
Comprehensive analysis reveals MCM4 as a biomarker for guiding therapies and immunomodulatory role in skin cutaneous melanoma Open
Background: Skin cutaneous melanoma (SKCM) is a malignant tumor characterized by aggressive invasion and a high tendency for metastasis. This study explores the potential of MCM4 as a biomarker for SKCM and its impact on the tumor m…
View article: Glucose absorption in the duodenum is modulated by an estrogen receptor α-dependent regulation of glucose transporter functional expression
Glucose absorption in the duodenum is modulated by an estrogen receptor α-dependent regulation of glucose transporter functional expression Open
Introduction The mechanisms of estrogen in glucose metabolism are well established; however, the role of this hormone in glucose absorption remains unclear. In this study, we investigated the effects of estrogen on glucose absorption in hu…
View article: Editorial on Genomic Mosaicism in Human Development and Diseases
Editorial on Genomic Mosaicism in Human Development and Diseases Open
The individual genome continuously accumulates genetic variations from a zygote [...]
View article: Somatic mutations in ALS genes in the motor cortex of sporadic ALS patients
Somatic mutations in ALS genes in the motor cortex of sporadic ALS patients Open
Amyotrophic lateral sclerosis (ALS) is characterized by the progressive degeneration of cortical and spinal motor neurons. Mendelian germline mutations often cause familial ALS (fALS) but only approximately ten percent of sporadic ALS case…
View article: CREPE (CREate Primers and Evaluate): a computational tool for large-scale primer design and specificity analysis
CREPE (CREate Primers and Evaluate): a computational tool for large-scale primer design and specificity analysis Open
Polymerase chain reaction (PCR) is ubiquitous in biological research labs, as it is a fast, flexible, and cost-effective technique to amplify a DNA region of interest. However, manual primer design can be an error-prone and time-consuming …
View article: BCG-trained macrophages couple LDLR upregulation to type I IFN responses and antiviral immunity
BCG-trained macrophages couple LDLR upregulation to type I IFN responses and antiviral immunity Open
Trained immunity refers to memory-like responses of innate immune cells when they re-encounter pathogenic stimuli. Bacillus Calmette-Guérin (BCG) vaccination implies enhanced antiviral immunity, whereas the underlying mechanisms remain unc…
View article: Dipping Into the Phenotypic Implications of Mosaic Variants
Dipping Into the Phenotypic Implications of Mosaic Variants Open
View article: Identification of Novel Mosaic Variants in Focal Epilepsy-Associated Patients’ Brain Lesions
Identification of Novel Mosaic Variants in Focal Epilepsy-Associated Patients’ Brain Lesions Open
Focal cortical dysplasia type III (FCDIII) is a rare and complex condition associated with drug-resistant epilepsy and often characterized by cortical lamination abnormalities, along with a variety of neoplasms and vascular abnormalities. …
View article: Comprehensive analysis of the potential mechanism of gansui in blocking non-small cell lung cancer progression
Comprehensive analysis of the potential mechanism of gansui in blocking non-small cell lung cancer progression Open
Gansui exerts anti-NSCLC effects via multiple downstream targets, implying its potential in NSCLC treatment.
View article: High-resolution dissection of human cell type-specific enhancers in cis and trans activities
High-resolution dissection of human cell type-specific enhancers in cis and trans activities Open
The spatiotemporal-specific gene expression is regulated by cell type-specific regulatory elements. Here we selected the H3K4me1-associated DNA sequences as candidate enhancers in two different human cell lines and performed ChIP-STARR-seq…
View article: Real-time icing load monitoring method on overhead transmission lines based on weighing theory
Real-time icing load monitoring method on overhead transmission lines based on weighing theory Open
When icing load on overhead transmission lines is calculated, the wire stress is usually calculated based on the length of the wire. In practical engineering applications, the wire length data is usually unknown or missing in the productio…
View article: Rising Tide: The Unyielding Burden&nbsp;Ofischaemic Heart Disease in Asia (1990–2021)
Rising Tide: The Unyielding Burden Ofischaemic Heart Disease in Asia (1990–2021) Open
View article: Correction: Gene expression and chromatin conformation of microglia in virally suppressed people with HIV
Correction: Gene expression and chromatin conformation of microglia in virally suppressed people with HIV Open
“Despite ART, we detected occasional microglia containing cell-associated HIV RNA and HIV DNA integrated into open regions of the host’s genome (∼0.005%)” should be corrected to: “Despite ART, we detected occasional microglia containing ce…
View article: Genomic mosaicism reveals developmental organization of trunk neural crest-derived ganglia
Genomic mosaicism reveals developmental organization of trunk neural crest-derived ganglia Open
Summary The neural crest generates numerous cell types, but conflicting results leave developmental origins unresolved. Here using somatic mosaic variants as cellular barcodes, we infer embryonic clonal dynamics of trunk neural crest, focu…
View article: Gene expression and chromatin conformation of microglia in virally suppressed people with HIV
Gene expression and chromatin conformation of microglia in virally suppressed people with HIV Open
The presence of HIV in sequestered reservoirs is a central impediment to a functional cure, allowing HIV to persist despite life-long antiretroviral therapy (ART), and driving a variety of comorbid conditions. Our understanding of the late…
View article: [Sperm Mosaic Variants and Their Influence on the Offspring].
[Sperm Mosaic Variants and Their Influence on the Offspring]. Open
Genomic mosaicism arising from mosaic variants is a phenomenon that describes the presence of a cell or cell populations with different genome compositions from the germline cells of an individual. It comprises all types of genetic variant…
View article: Mapping recurrent mosaic copy number variation in human neurons
Mapping recurrent mosaic copy number variation in human neurons Open
View article: Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain
Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain Open
View article: Research progress on the roles of dopamine and dopamine receptors in digestive system diseases
Research progress on the roles of dopamine and dopamine receptors in digestive system diseases Open
Dopamine (DA) is a neurotransmitter synthesized in the human body that acts on multiple organs throughout the body, reaching them through the blood circulation. Neurotransmitters are special molecules that act as messengers by binding to r…
View article: Influence of Hydrogen Ingress and Capture on the Mechanical Properties of Spray Formed 2195 Aluminum Alloy
Influence of Hydrogen Ingress and Capture on the Mechanical Properties of Spray Formed 2195 Aluminum Alloy Open
View article: Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases
Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases Open
Somatic mosaicism is defined as an occurrence of two or more populations of cells having genomic sequences differing at given loci in an individual who is derived from a single zygote. It is a characteristic of multicellular organisms that…
View article: Genomic Mosaicism of the Brain: Origin, Impact, and Utility
Genomic Mosaicism of the Brain: Origin, Impact, and Utility Open
Genomic mosaicism describes the phenomenon where some but not all cells within a tissue harbor unique genetic mutations. Traditionally, research focused on the impact of genomic mosaicism on clinical phenotype—motivated by its involvement …
View article: Cell-type-resolved somatic mosaicism reveals clonal dynamics of the human forebrain
Cell-type-resolved somatic mosaicism reveals clonal dynamics of the human forebrain Open
Debate remains around anatomic origins of specific brain cell subtypes and lineage relationships within the human forebrain. Thus, direct observation in the mature human brain is critical for a complete understanding of the structural orga…
View article: Post-zygotic brain mosaicism as a result of partial reversion of pre-zygotic aneuploidy
Post-zygotic brain mosaicism as a result of partial reversion of pre-zygotic aneuploidy Open
View article: Detection of Salmonella DNA and drug-resistance mutation by PCR-based CRISPR-lbCas12a system
Detection of Salmonella DNA and drug-resistance mutation by PCR-based CRISPR-lbCas12a system Open