Background: One potential cause of implantation failure is abnormal endometrial receptivity, and how to objectively evaluate endometrial receptivity has been a matter of great concern. Endometrial receptivity analysis (ERA), a next-generation sequencing-based test that assesses endometrial gene expression, may be valuable in predicting endometrial receptivity, but whether ERA improves pregnancy outcomes in patients with recurrent implantation failure (RIF) is currently controversial. The purpose of this study was to investigate the effect of ERA on pregnancy outcomes in patients with RIF.
View Article and Find Full Text PDFGenetic alterations play a pivotal role in leukemic clonal transformation, significantly influencing disease pathogenesis and clinical outcomes. Here, we report a novel fusion gene and investigate its pathogenic role in acute lymphoblastic leukemia (ALL). We engineer a transposon transfection system expressing the TOP2B::AFF2 transcript and introduce it into Ba/F3 cells.
View Article and Find Full Text PDFGene drives are alleles that can bias the inheritance of specific traits in target populations for the purpose of modification or suppression. Here, we construct a homing suppression drive in the major urban malaria vector Anopheles stephensi targeting the female-specific exon of doublesex, incorporating two gRNAs and a nanos-Cas9 to reduce functional resistance and improve female heterozygote fitness. Our results show that the drive was recessive sterile in both females and males, with various intersex phenotypes in drive homozygotes.
View Article and Find Full Text PDFBackground: Perry syndrome (PS) is a rare and fatal hereditary autosomal dominant neurodegenerative disorder caused by mutations in dynactin (DCTN1). PS brains accumulate inclusions positive for ubiquitin, transactive-response DNA-binding protein of 43 kDa (TDP-43), and to a lesser extent dynactin.
Objectives: Little is known regarding the contributions of TDP-43, an RNA binding protein that represses cryptic exon inclusion, in PS.
The most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) is an intronic GC repeat expansion in C9orf72. The repeats undergo bidirectional transcription to produce sense and antisense repeat RNA species, which are translated into dipeptide repeat proteins (DPRs). As toxicity has been associated with both sense and antisense repeat-derived RNA and DPRs, targeting both strands may provide the most effective therapeutic strategy.
View Article and Find Full Text PDFDeep phenotyping can enhance the power of genetic analysis, including genome-wide association studies (GWAS), but the occurrence of missing phenotypes compromises the potential of such resources. Although many phenotypic imputation methods have been developed, the accurate imputation of millions of individuals remains challenging. In the present study, we have developed a multi-phenotype imputation method based on mixed fast random forest (PIXANT) by leveraging efficient machine learning (ML)-based algorithms.
View Article and Find Full Text PDFColloids Surf B Biointerfaces
April 2025
Antibiotic resistance combined with bacteria internalization result in recurrent infections that seriously threaten human health. To overcome these problems, a pH/HO dual-responsive nanoparticle (COSBN@CFS@PS) that can target macrophages, exhibiting synergistic antibiotic and β-lactamase inhibitor activity, is reported. Chitosaccharides (COS) is covalently bound with benzenboronic acid pinacol ester and assemble with cefoxitin sodium salt (CFS) to form COSBN@CFS nanoparticles.
View Article and Find Full Text PDFThe molecular mechanism underlying the role of hippocampal hilar interneuron degeneration in temporal lobe epilepsy (TLE) remains unclear. Especially, very few studies have focused on the role of neuronal nitric oxide synthase (nNOS, encoded by Nos1) containing hilar interneurons in TLE. In the present study, Nos1 conditional knockout mice were constructed, and we found that selective deletion of Nos1 in hilar interneurons rather than dentate granular cells (DGCs) triggered epileptogenesis.
View Article and Find Full Text PDFObjectives: To investigate the prognostic value of visible hematuria in T1a renal cell carcinoma (RCC).
Materials And Methods: In the RCC database of the Chinese People's Liberation Army General Hospital Department of Urology, we assembled the records of patients with unilateral RCC over 18 years of age diagnosed between 2008 and 2019. The clinical stage was cT1, and the tumors ranged in size from 0 to 7 cm.
A new class of metallo-supramolecular amphiphilic dyes 1 a, b was constructed by using two azadipyrromethene units which were respectively modified with two hydrophobic alkyl and two hydrophilic oligo(ethylene glycol) chains. The spectroscopic and morphological studies revealed the consecutive self-assembly pathways of 1 a in EtOH/HO mixed solvent. The monomers of 1 a firstly aggregated into the kinetic-controlled, nanodisc-shaped Agg.
View Article and Find Full Text PDFThe digastric, a prominent anatomic feature of the head and neck, exhibits clear ethnographic differences in the incidence of variation in its anterior belly (AB) and the relationship of its intermediate tendon (IT) to the stylohyoid (SH). There is a limited amount of information available regarding the digastric in the Chinese population, with most descriptions being individual cases. The present study aims to investigate the variability of AB, elucidate the relationship between IT and SH, and further address the arrangement of individual digastric muscles according to the type of AB and posterior belly (PB) of the digastric, as well as IT, in a Chinese population.
View Article and Find Full Text PDFMedicine (Baltimore)
September 2024
Significance: Near-infrared optical imaging methods have shown promise for monitoring response to neoadjuvant chemotherapy (NAC) for breast cancer, with endogenous contrast coming from oxy- and deoxyhemoglobin. Spatial frequency domain imaging (SFDI) could be used to detect this contrast in a low-cost and portable format, but it has limited imaging depth. It is possible that local tissue compression could be used to reduce the effective tumor depth.
View Article and Find Full Text PDFObjective: The persistent symptoms arising from COVID-19 infection pose a substantial threat to patients' health, carrying significant implications. Amidst the evolving COVID-19 control strategies in China, healthcare workers (HCWs) endure considerable stress. This study aims to evaluate the prevalence of long COVID infections and their influencing factors among primary HCWs after epidemic control policy adjustment in Jiangsu.
View Article and Find Full Text PDFPrecise monitoring of biomolecular radiation damage is crucial for understanding X-ray-induced cell injury and improving the accuracy of clinical radiotherapy. We present the design and performance of lanthanide-DNA-origami nanodosimeters for directly visualizing radiation damage at the single-particle level. Lanthanide ions (Tb or Eu) coordinated with DNA origami nanosensors enhance the sensitivity of X-ray irradiation.
View Article and Find Full Text PDFWith the increase in the aging population, senile osteoporosis (SOP) has become a major global public health concern. Here, it is found that Prx1 and Bmi-1 co-localized in trabecular bone, bone marrow cavity, endosteum, and periosteum. Prx1-driven Bmi-1 knockout in bone-marrow mesenchymal stem cells (BMSCs) reduced bone mass and increased bone marrow adiposity by inhibiting osteoblastic bone formation, promoting osteoclastic bone resorption, downregulating the proliferation and osteogenic differentiation of BMSCs, and upregulating the adipogenic differentiation of BMSCs.
View Article and Find Full Text PDFBackground: Mycoplasma gallisepticum (MG) has long been a pathogenic microorganism threatening the global poultry industry. Previous studies have demonstrated that the mechanism by which quercetin (QUE) inhibits the colonization of MG in chicks differs from that of antibiotics. However, the molecular mechanism by which QUE facilitates the clearance of MG remains unclear.
View Article and Find Full Text PDFBile cell-free DNA (cfDNA) has been reported as a promising liquid biopsy tool for cholangiocarcinoma (CCA), however, the whole-genome mutation landscape and structural variants (SVs) of bile cfDNA remains unknown. Here we performed whole-genome sequencing on bile cfDNA and analyzed the correlation between mutation characteristics of bile cfDNA and clinical prognosis. TP53 and KRAS were the most frequently mutated genes, and the RTK/RAS, homologous recombination (HR), and HIPPO were top three pathways containing most gene mutations.
View Article and Find Full Text PDFIntracellular pathogens can survive inside the macrophages to protect themselves from eradication by the innate immune system and conventional antibiotics, resulting in severe bacterial infections. In this work, an antibiotic-free nanocomplex (HA/GA-Fe@NO-DON), exhibiting macrophage-targeted synergistic gas therapy (nitric oxide, NO)/chemodynamic therapy/immunotherapy, was reported. HA/GA-Fe nanoparticles were synthesized by the strong coordination interactions among carboxyl groups of hyaluronic acid (HA), polyphenol groups of gallic acid (GA), and Fe(II) ions.
View Article and Find Full Text PDFBackground: Hereditary spherocytosis (HS, MIM#612641) is one of the most common hereditary hemolytic disorders. This study aimed to confirm a novel variant's pathogenicity and reveal a patient's genetic etiology.
Methods: The clinical data of a patient with HS who underwent genetic sequencing at the Children's Hospital of Chongqing Medical University were reviewed retrospectively.
Mitochondrial DNA B Resour
July 2024
Bird's nest fungi involve six different genera, but only one of these genera (i.e. ) have available mitochondrial genomes (mitogenomes) to date.
View Article and Find Full Text PDF