A5000550895- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Prenatal Screening and Diagnostics
- Genetic and phenotypic traits in livestock
- RNA modifications and cancer
- Cancer-related molecular mechanisms research
- Congenital Heart Disease Studies
- Williams Syndrome Research
- Renal and related cancers
- Ion channel regulation and function
- Cardiac electrophysiology and arrhythmias
- Genomics and Rare Diseases
- Tumors and Oncological Cases
- Wheat and Barley Genetics and Pathology
- Meat and Animal Product Quality
- Global Energy and Sustainability Research
- RNA and protein synthesis mechanisms
- Genetic Syndromes and Imprinting
- Genetic Mapping and Diversity in Plants and Animals
- Takotsubo Cardiomyopathy and Associated Phenomena
- Genetics and Neurodevelopmental Disorders
- Cardiac Fibrosis and Remodeling
- Trace Elements in Health
- Connective tissue disorders research
- Congenital limb and hand anomalies
Peking University
2025
Genomics (United Kingdom)
2025
Northwest Women's and Children's Hospital
2025
China-Japan Friendship Hospital
2025
Xinjiang Uygur Autonomous Region Education Department
2024
Zhengzhou University
2021-2024
Guangdong Province Women and Children Hospital
2020-2024
Xuzhou Medical College
2019-2021
Shanghai Jiao Tong University
2012-2021
Shanghai Children's Medical Center
2012-2021
The high-output pathway of nitric oxide production helps protect mice from infection by several pathogens, including Mycobacterium tuberculosis. However, based on studies cells cultured blood, it is controversial whether human mononuclear phagocytes can express the corresponding inducible synthase (iNOS;NOS2). present study examined alveolar macrophages fixed directly after bronchopulmonary lavage. An average 65% 11 patients with untreated, culture-positive pulmonary tuberculosis reacted an...
Congenital heart defects (CHD), as the most common congenital anomaly, have been reported to be frequently associated with pathogenic copy number variants (CNVs). Currently, patients CHD are routinely offered chromosomal microarray (CMA) testing, but diagnostic yield of CMA on has not extensively evaluated based a large patient cohort. In this study, we retrospectively assessed detected CNVs in total 514 cases (a 422-case clinical cohort from Boston Children's Hospital (BCH) and 92-case...
CDKN1C, a cyclin-dependent kinase inhibitor and negative regulator of cellular proliferation, is paternally imprinted has been shown to regulate β-cell proliferation. CDKN1C mutations are associated with growth disorders, including Beckwith-Wiedemann syndrome IMAGe syndrome. To investigate the genetic basis for familial disorder characterized by intrauterine restriction, short stature, early-adulthood-onset diabetes. Genomic DNA samples (15 affected 26 unaffected from six-generation...
Copy number variations (CNVs) of chromosomal region 22q11.2 are associated with a subset patients congenital heart disease (CHD). Accurate and efficient detection CNV is important for genetic analysis CHD. The aim the study was to introduce novel approach named CNVplex®, high-throughput technique designed CNVs, explore prevalence sub-chromosomal imbalances in loci CHD from single institute.We developed technique, copy aberrations. Modified multiplex ligation-dependent probe amplification...
Male and female hearts have many structural functional differences. Here, we investigated the role of estrogen (E2) in mechanisms sex differences contraction through cAMP-L-type Ca2+channel pathway adult mice left ventricular (LV) apical myocytes at basal stress state. Isolated LV from male, (Sham) ovariectomised (OVX) were used to investigate contractility, Ca2+ transients L-type channel (LTCC) function. The levels β2AR, intracellular cAMP, phosphodiesterase (PDE 3 PDE 4), RyR2, PLB, SLN,...
Abstract The Kazakh cattle in the Xinjiang Uygur Autonomous Region of China are highly adaptable and have multiple uses, including milk meat production, use as draft animals. They an excellent original breed that could be enhanced by breeding hybrid improvement. However, genomic diversity signature selection underlying germplasm characteristics require further elucidation. Herein, we evaluated 26 genomes comparison with 103 seven other breeds from regions around world to assess genetic...
Abstract Background Optical genome mapping (OGM) is a novel assay for detecting structural variants (SVs) and has been retrospectively evaluated its performance. However, prospective evaluation in prenatal diagnosis remains unreported. This study aimed to prospectively assess the technical concordance of OGM with standard care (SOC) testing diagnosis. Methods A cohort 204 pregnant women was enrolled this study. Amniotic fluid samples from these were subjected SOC testing, which included...
In wheat, coding region allelic variants of TaGW2-6A are closely associated with grain width and weight, but the genetic mechanisms involved remain unclear. Thus, to obtain insights into key functions regulated by during wheat development, we performed transcriptional proteomic analyses variants. The transcription results showed that differed significantly several orders magnitude. Each variant reached its first peak at 6 days after anthesis (DAA), insertion type second earlier than normal...
ABSTRACT Growth and differentiation factors (GDFs) are secreted signaling molecules within the BMP family that have critical roles in joint morphogenesis during skeletal development mice humans. Using genetic data obtained from a six-generation Chinese family, we identified missense variant GDF6 (NP_001001557.1; p.Y444N) fully segregates with novel autosomal dominant synostoses (SYNS) phenotype, which designate as SYNS4. Affected individuals display bilateral wrist ankle deformities at birth...
Abstract Purpose This study is aims to explore the role of ferroptosis genes regulated by N6-methyladenosine (m6A) in Type 2 diabetes mellitus (T2DM). Material and methods Firstly, differentially expressed m6A-FRGs (DEm6A-FRGs) were obtained intersecting (DEGs) m6A-related (m6A-FRGs). After enrichment analysis DEm6A-FRGs, artificial neural network (ANN) nomogram models constructed using 4 biomarkers. Moreover, gene set biomarkers was performed. Furthermore, transcription factors (TF)-mRNA...
<title>Abstract</title> Duchenne and Becker muscular dystrophies (DMD/BMDs) are X-linked genetic disorders caused by mutations in the dystrophin gene (<italic>DMD</italic>), characterized progressive muscle weakness degeneration. While <italic>DMD</italic> duplications account for approximately 10% of cases, their clinical impact varies significantly, ranging from severe phenotypes to asymptomatic presentations, posing significant challenges determining pathogenicity. This study investigates...
The non-coding RNAs (ncRNAs) have been reported in numerous studies, and their significant roles several diseases verified subsequently. tRNA-derived fragments (tRFs) are a newly discovered class of small ncRNAs which produced by mature or precursor tRNAs. In light the development RNA sequencing, evidences shown that tRFs widely involved generation progression series mechanisms including silencing, translational regulation, epigenetic reverse-transcriptional cellular apoptosis. Several...
Clinical demographics have demonstrated that postmenopausal women are predisposed to chronic stress-induced cardiomyopathy (CSC) and this has been associated with the decrease of estrogen. Meanwhile, recent studies implicated unsolved myocardial proinflammatory responses, which characterized by enormous CD86+ macrophage infiltrations as an underlying disease mechanism expediting pathological remodeling heart during stress. However, we had previously estrogen confers cardioprotection via...
Objective To investigate potential functional variants in FTO and SH2B1 genes among Chinese children with obesity. Methods Sanger sequencing of PCR products all exons their flanking regions were performed 338 Han obesity 221 age- sex-matched lean controls. Results A total seven five rare non-synonymous identified SH2B1, respectively. The overall frequencies similar obese (2.37% 0.90% vs. 1.81% 1.36%, P>0.05). However, four out the novel unique to (p>0.05). None was consistently being...
Chromosome 4q deletion is one of the most frequently detected genomic imbalance events in congenital heart disease (CHD) patients. However, a portion CHD-associated deletions without known CHD genes suggests unknown within these intervals. Here, we have shown that knockdown SORBS2 , interval gene, disrupted sarcomeric integrity cardiomyocytes and caused reduced cardiomyocyte number human embryonic stem cell differentiation model. Molecular analyses revealed decreased expression second field...
To share our experience on prenatal diagnosis of Williams-Beuren syndrome(WBS) and to improve the awareness, diagnosis, intrauterine monitoring fetuses this disease.The study retrospectively evaluated 14 cases WBS diagnosed prenatally by single nucleotide polymorphism array (SNP-array). Clinical data from these were systematically reviewed, including maternal demographics, indications for invasive ultrasound findings, SNP-array results, trio-medical exome sequencing (Trio-MES) QF-PCR...
Aims: Hypophosphatasia, a rare inherited disease characterized by defective mineralization of bone and teeth, is caused various mutations in the tissue-nonspecific isoenzyme alkaline phosphatase (TNSALP) gene. Our aim was to determine on TNSALP gene three Chinese children diagnosed as having hypophosphatasia. Methods: Genomic DNA extracted from whole blood samples patients their parents. The coding regions were then sequenced. Plasmids expressing wild-type or mutants built vitro studies...