A5009280516- Sperm and Testicular Function
- Particle physics theoretical and experimental studies
- Reproductive Biology and Fertility
- Quantum Chromodynamics and Particle Interactions
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- High-Energy Particle Collisions Research
- Prenatal Screening and Diagnostics
- Renal and related cancers
- Genetic and Kidney Cyst Diseases
- Retinal Development and Disorders
- Neutrino Physics Research
- Sexual Differentiation and Disorders
- Ocular Oncology and Treatments
- Dark Matter and Cosmic Phenomena
- Ophthalmology and Visual Impairment Studies
- Invertebrate Immune Response Mechanisms
- Reproductive Health and Technologies
- Assisted Reproductive Technology and Twin Pregnancy
- Black Holes and Theoretical Physics
- Head and Neck Surgical Oncology
- Hepatocellular Carcinoma Treatment and Prognosis
- Cancer-related Molecular Pathways
- Microtubule and mitosis dynamics
- Corneal surgery and disorders
- RNA Research and Splicing
Anhui Medical University
2018-2025
First Affiliated Hospital of Anhui Medical University
2018-2025
University of Science and Technology of China
2023-2025
Anhui Agricultural University
2023-2025
Obstetrics and Gynecology Hospital of Fudan University
2025
Ministry of Education of the People's Republic of China
2019-2024
Ministry of Education
2024
Sun Yat-sen University
2011-2024
Nanjing Forestry University
2024
Lanzhou University
2024
Here we present the first diploid genome sequence of an Asian individual. The was sequenced to 36-fold average coverage using massively parallel sequencing technology. We aligned short reads onto NCBI human reference 99.97% coverage, and guided by genome, used uniquely mapped assemble a high-quality consensus for 92% individual’s genome. identified approximately 3 million single-nucleotide polymorphisms (SNPs) inside this region, which 13.6% were not in dbSNP database. Genotyping analysis...
Parkinson's disease (PD) is the second most widespread neurodegenerative disorder in world. It has been reported that exosomes derived from mesenchymal stem cells (MSCs) can contribute to recovery of PD. However, underlying mechanism remains poorly defined. In this study, proteomics and time-series analysis showed MSCs keep human brain microvascular endothelial (HBMECs) a transcriptionally active state, which may be beneficial for angiogenesis. Next, we found MSC-derived promote angiogenesis...
There is growing concern that chemotherapy drugs can damage Leydig cells and inhibit the production of testosterone. Increasing evidence shows melatonin benefits reproductive process. This study mainly explores protective effect possible molecular mechanism regarding cisplatin-induced oxidative stress in testicular tissue cells. We found there were only Sertoli testes gastrointestinal tumor patients with azoospermia caused by platinum chemotherapeutic drugs. Melatonin (Mel) receptor...
Abstract The axonemal dynein arms (outer (ODA) and inner (IDAs)) are multiprotein structures organized by light, intermediate, light intermediate (LIC), heavy chain proteins. They hydrolyze ATP to promote ciliary flagellar movement. Till now, a variety of protein deficiencies have been linked with asthenospermia (ASZ), highlighting the significance these in human sperm motility. Herein, we detected bi-allelic DNALI1 mutations [c.663_666del (p.Glu221fs)], an ASZ patient, which resulted...
Background The association between the TDRD6 variants and human infertility remains unclear, as only one homozygous missense variant of was found to be associated with oligoasthenoteratozoospermia (OAT). Methods Whole-exome sequencing Sanger were employed identify potential pathogenic in infertile men. Histology, immunofluorescence, immunoblotting ultrastructural analyses conducted clarify structural functional abnormalities sperm mutated patients. Tdrd6 -knockout mice generated using...
Abstract Theanine metabolism is a necessary biological process during the planting and production of tea that determines quality. There currently little knowledge about transcriptional regulation theanine in plants. In this study, we demonstrated γ-glutamyl-transpeptidase CsGGT4, as homologous protein hydrolase CsGGT2, exhibited higher synthesis catalytic efficiency. Homology modeling molecular docking showed differential structures between CsGGT2 CsGGT4 implied their different functions...
Objective Epilepsy and intellectual/developmental disabilities (ID/DD) have a high rate of co-occurrence. Here, we investigated gene mutations in Chinese children with unexplained epilepsy ID/DD. Methods We used targeted next-generation sequencing to detect within 300 genes related ID/DD 253 A series filtering criteria was find the possible pathogenic variations. Validation parental origin analyses were performed by Sanger sequencing. reviewed phenotypes patients each mutated gene. Results...
Male infertility is a prevalent issue worldwide, mostly due to the impaired sperm motility. Multiple morphological abnormalities of flagella (MMAF) present aberrant spermatozoa with absent, short, coiled, bent and irregular-calibre resulting in severely decreased Previous studies reported several MMAF-associated genes accounting for approximately half MMAF cases.We conducted genetic analysis using whole-exome sequencing 88 Han Chinese probands. CFAP65 homozygous mutations were identified...
Background Asthenoteratospermia, one of the most common causes for male infertility, often presents with defective sperm heads and/or flagella. Multiple morphological abnormalities flagella (MMAF) is clinical manifestations asthenoteratospermia. Variants in several genes including DNAH1 , CEP135 CATSPER2 and SUN5 are involved genetic pathogenesis However, more than half asthenoteratospermia cases cannot be explained by known pathogenic genes. Methods results Two asthenoteratospermia-affected...
Mutations in SCN8A, a voltage-gated sodium-channel type VIII alpha subunit gene, have recently been recognized as one of the pathogenic mechanisms leading to epilepsy and intellectual/developmental disabilities (IDDs). The aim this study was detect SCN8A mutations Chinese patients with unknown etiology ID/DD.We used targeted next-generation sequencing identify IDDs. A filter process performed prioritize rare variants potential functional significance. Sanger confirmed determined parental...
Motile cilia and flagellar defects can result in primary ciliary dyskinesia, which is a multisystemic genetic disorder that affects roughly 1:10 000 individuals. The nexin-dynein regulatory complex (N-DRC) links neighboring doublet microtubules within flagella, serving as central hub for motility Chlamydomonas. Herein, we identified two homozygous DRC1 variants human patients were associated with multiple morphological abnormalities of the sperm flagella (MMAF) male infertility. Drc1-/-,...
Using initial-state radiation events from a total integrated luminosity of $11.957\text{ }\text{ }{\mathrm{fb}}^{\ensuremath{-}1}$ ${e}^{+}{e}^{\ensuremath{-}}$ collision data collected at center-of-mass energies between 3.773 and 4.258 GeV with the BESIII detector BEPCII, cross section for process ${e}^{+}{e}^{\ensuremath{-}}\ensuremath{\rightarrow}\mathrm{\ensuremath{\Lambda}}\overline{\mathrm{\ensuremath{\Lambda}}}$ is measured in 16...
Objective The goal of this study was to identify mutations in 25 known causative genes 47 unrelated Chinese families with cone-rod dystrophy (CORD). Methods Forty-seven probands from CORD were recruited. Genomic DNA prepared leukocytes analyzed by whole exome sequencing. Variants the selected and then validated Sanger Results Fourteen potential pathogenic mutations, including nine novel five known, identified 10 (21.28%). Homozygous, compound heterozygous, hemizygous detected three, four, or...
Abstract Accumulating evidence indicates the absence of paternally derived miRNAs, piwiRNAs, and proteins may be one important factor contributing to developmental failure in somatic cell cloned embryos. In present study, we found microRNA-449b (miR-449b) was highly expressed sperm. Target gene predictions experimental verification indicate that several embryonic development-related genes, including CDK6 , c-MYC HDAC1 BCL-2 are targets miR-449b. We therefore investigated role miR-449b using...
Abstract Background Potassium channels are important for the structure and function of spermatozoa. As a potassium transporter, mSlo3 is essential male fertility as Slo3 knockout mice were infertile with series functional defects in sperm cells. However, no pathogenic variant has been detected human SLO3 to date. Here we reported case homozygous mutation. The corresponding assisted reproductive strategy also investigated. Methods We performed whole-exome sequencing analysis from large cohort...
Male infertility is an increasingly serious health problem affecting couples of reproductive age. Mutations in axoneme-associated genes cause male infertility. Dynein arm proteins are essential sustaining normal axonemes and promote flagellar motility. However, the function DNAH7 fertility vivo remains unclear. Herein, we showed that disruption humans results infertility, which was characterised by multiple morphological abnormalities sperm flagella. The axoneme structure from a...
Abstract Background Multiple morphological abnormalities of the sperm flagella (MMAF) is a subtype severe asthenoteratozoospermia with poorly understood genetic etiology. SPAG6 core axonemal component that plays critical role in formation cilia and flagella. Previous studies have reported mutations cause primary ciliary dyskinesia (PCD), but association between gene variants MMAF phenotype has not yet been described. Methods We performed whole-exome sequencing (WES) two unrelated Han Chinese...
Non-obstructive azoospermia (NOA) is the most severe type of male infertility, affecting 1% men worldwide. Most its etiologies remain idiopathic. Although genetic studies have identified dozens NOA genes, monogenic mutations can also account for a small proportion idiopathic cases. Hence, this study was conducted to explore causes variants in cohort Chinese patients.Following screening using chromosomal karyotyping, Y chromosome microdeletion analyses, and sex hormone assessments, subsequent...