Genetic Diversity and Population Structure of Wild Ancient in Pu'an, Guizhou, China.

Pu'an County, located in southwestern Guizhou Province, China, is one of the original habitats for wild tea plants. It is renowned not only as the "Home of Ancient Tea Trees in China" but also as the "Core Production Area for High-Quality Early Tea in China". The wild ancient tea trees are considered "living fossil".

Prenatal Exome Sequencing for Fetal Macrocephaly: A Large Prospective Observational Cohort Study.

Objective: To assess the diagnostic utility of exome sequencing (ES) in macrocephalic fetuses.

Methods: Fetuses with macrocephaly (head circumference (HC) ≥ +2 SD) and negative chromosomal microarray results were included, who had available trio-ES data. Molecular diagnoses were systematically analyzed.

Predictive Value of Monocyte to High-Density Lipoprotein Cholesterol Ratio for Target Lesion Revascularization in Patients With Drug-Eluting Stent Implantation.

Background: Severe in-stent restenosis (ISR) following the implantation of drug-eluting stent (DES) can lead to recurrent angina pectoris or even acute myocardial infarction, thereby necessitating target lesion revascularization (TLR). Prior studies have confirmed the correlation between the monocyte to high-density lipoprotein cholesterol ratio (MHR) and ISR after DES implantation. The potential of MHR to predict TLR following DES implantation remains an area of ongoing research and may have significant clinical implications.

Single-cell RNA sequencing reveals cellular and molecular landscape of fetal cystic hygroma.

Background: The molecular mechanism of fetal cystic hygroma (CH) is still unclear, and no study has previously reported the transcriptome changes of single cells in CH. In this study, single-cell transcriptome sequencing (scRNA-seq) was used to investigate the characteristics of cell subsets in the lesion tissues of CH patients.

Methods: Lymphoid tissue collected from CH patients and control donors for scRNA-seq analysis.

Prenatal diagnosis and outcomes in fetuses with duplex kidney.

Objective: Duplex kidney is a relatively frequent form of urinary system abnormality. This study aimed to elucidate the value of chromosomal microarray analysis (CMA) and whole exome sequencing (WES) for duplex kidney and the perinatal outcomes of duplex kidney fetuses.

Methods: This retrospective cohort study included 63 patients with duplex kidney diagnosed using antenatal ultrasound between August 2013 and January 2023.

ASXL3 gene mutations inhibit cell proliferation and promote cell apoptosis in mouse cardiomyocytes by upregulating lncRNA NONMMUT063967.2.

Congenital heart disease (CHD) is a serious condition with unknown etiology. In a recent study, a compound heterozygous mutation (c.3526C > T [p.

Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing.

Fetal hyperechogenic kidneys (HEK) is etiologically a heterogeneous disorder. The aim of this study was to identify the genetic causes of HEK using prenatal chromosomal microarray analysis (CMA) and exome sequencing (ES). From June 2014 to September 2022, we identified 92 HEK fetuses detected by ultrasound.

Ndufa4 Regulates the Proliferation and Apoptosis of Neurons via miR-145a-5p/Homer1/Ccnd2.

The Dandy-Walker malformation (DWM) is characterized by neuron dysregulation in embryonic development; however, the regulatory mechanisms associated with it are unclear. This study aimed to investigate the role of NADH dehydrogenase 1 alpha subcomplex 4 (NDUFA4) in regulating downstream signaling cascades and neuronal proliferation and apoptosis. Ndufa4 overexpression promoted the proliferation of neurons and inhibited their apoptosis in vitro, which underwent reverse regulation by the Ndufa4 short hairpin RNAs.

Prenatal Diagnosis of -Related Neurodevelopmental Disorders Using Whole Exome Sequencing: Clinical Report and Review of Literature.

-related neurodevelopmental disorder (NDD) is expressed with autosomal dominant inheritance and is typically caused by a pathogenic de novo mutation. It is characterized by the predominant features of hypotonia, developmental delay, moderate-to-severe intellectual disability, agenesis of corpus callosum (ACC), ventriculomegaly, and dysmorphic features; however, none of these anomalies have been diagnosed prenatally. We report on the prenatal diagnosis of -related NDD in two fetuses by whole exome sequencing.

Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses.

Background: Exome sequencing (ES) is becoming more widely available in prenatal diagnosis. However, data on its clinical utility and integration into clinical management remain limited in practice. Herein, we report our experience implementing prenatal ES (pES) in a large cohort of fetuses with anomalies detected by ultrasonography using a hospital-based in-house multidisciplinary team (MDT) facilitated by a three-step genotype-driven followed by phenotype-driven analysis framework.

Physicochemical and biological factors determining the patchy distribution of soil water repellency among species of dominant vegetation in loess hilly region of China.

Soil water repellency (SWR) is a physical phenomenon whereby water cannot penetrate or has difficulty penetrating the soil surface. There are many factors involved in its occurrence, but the main factors controlling its emergence in loess remain unclear. In this work, we have studied numerous physicochemical and biological factors functioning in different dominant vegetations ( Carr.

Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis.

Background: There are a few literature reports of prenatal ultrasound manifestations of Williams-Beuren syndrome. We aimed to explore the prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis and describe the prenatal ultrasound performance of this syndrome.

Methods: In this retrospective study, we reported eight cases of Williams-Beuren syndrome diagnosed at our prenatal diagnostic center from 2016 to 2021.

Effects of Plant Hormones, Metal Ions, Salinity, Sugar, and Chemicals Pollution on Glucosinolate Biosynthesis in Cruciferous Plant.

Cruciferous vegetable crops are grown widely around the world, which supply a multitude of health-related micronutrients, phytochemicals, and antioxidant compounds. Glucosinolates (GSLs) are specialized metabolites found widely in cruciferous vegetables, which are not only related to flavor formation but also have anti-cancer, disease-resistance, and insect-resistance properties. The content and components of GSLs in the Cruciferae are not only related to genotypes and environmental factors but also are influenced by hormones, plant growth regulators, and mineral elements.

Identification of differential microRNAs and messenger RNAs resulting from ASXL transcriptional regulator 3 knockdown during during heart development.

Congenital heart disease (CHD) is the most common birth defect. Although ASXL transcriptional regulator 3 (ASXL3) has been reported to cause hereditary CHD, ASXL3-mediated mechanisms in heart development remain unclear. In this study, we used dimethyl sulfoxide (DMSO) to induce differentiation in P19 cells, observed cell morphology using light microscopy after ASXL3 knockdown, and determined the levels of associated myocardial cell markers using reverse transcription-quantitative polymerase chain reaction and western blotting.

Identification of Alternative Splicing and LncRNA Genes in Brain Tissues of Fetal Mice at Different Developmental Stages.

Background: Brain development is an extremely complex and precisely regulated process, with about one-third of genes expressed and precisely regulated during brain development.

Objective: This study aims to explore the molecular mechanisms involved in brain development.

Methods: We first established the expression profile of long non-coding RNAs (lncRNAs) and mRNAs in brain tissues of fetal mice at 12.

Genome-wide identification and expression analysis of the MYC transcription factor family and its response to sulfur stress in cabbage (Brassica oleracea L.).

MYC transcriptional factors are members of the bHLH (basic helix-loop-helix) superfamily, and play important roles in plant growth, biological and abiotic stress. Recent studies have revealed that some MYCs are involved in the synthesis of sulfur-containing secondary metabolites. Cabbage, as a typical sulfur-loving crop and rich in sulfur-containing secondary metabolites, the regulatory relationship between sulfur stress and MYC gene family, related reports are relatively rare.

Transcriptome and Proteome Conjoint Analysis Revealed That Exogenous Sulfur Regulates Glucosinolate Synthesis in Cabbage.

Glucosinolates (GLS) are important anionic secondary metabolites that are rich in thiocyanin in cabbage, L. var. capitata.

[Application of whole exome sequencing technology in fetuses with congenital structural abnormalities].

Objective: To investigate the application value of whole exome sequencing technology in fetuses with congenital structural abnormalities.

Methods: The chromosomal abnormalities of 1147 families were analyzed. According to the follow-up results, the data of fetuses with new phenotypes in late pregnancy or after birth were reanalyzed.

5-Aminolevulinic acid and hydrogen sulphide alleviate chilling stress in pepper (Capsicum annuum L.) seedlings by enhancing chlorophyll synthesis pathway.

5- Aminolevulinic acid (ALA) as a precursor in chlorophyll (Chl) synthesis and hydrogen sulphide (HS) as a gas signalling molecules can alleviate various abiotic stresses by enhancing photosynthesis. However, little is known about their mechanisms ameliorating photosynthesis under chilling stress, or interactions of ALA and HS in Chl synthesis. In this study, we explored the effects of exogenous ALA and HS on chilling stress-induced photosynthesis damage in pepper (Capsicum annuum L.