A5103252771- Reproductive Biology and Fertility
- Sperm and Testicular Function
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Renal and related cancers
- Epigenetics and DNA Methylation
- Bacteriophages and microbial interactions
- CRISPR and Genetic Engineering
- Antibiotic Resistance in Bacteria
- Prenatal Screening and Diagnostics
- Pluripotent Stem Cells Research
- Genetic and Kidney Cyst Diseases
- Biofuel production and bioconversion
- Microbial Metabolic Engineering and Bioproduction
- Retinal Development and Disorders
- Hippo pathway signaling and YAP/TAZ
- Enzyme Catalysis and Immobilization
- Escherichia coli research studies
- Liver Disease Diagnosis and Treatment
- Photoreceptor and optogenetics research
- Erythrocyte Function and Pathophysiology
- Genomics and Phylogenetic Studies
- Blood groups and transfusion
- Animal Genetics and Reproduction
- Hemoglobinopathies and Related Disorders
- Liver Disease and Transplantation
University of Science and Technology of China
2022-2025
West China Hospital of Sichuan University
2024
Sichuan University
2024
East China University of Science and Technology
2022-2023
Asthenoteratozoospermia, a prevalent cause of male infertility, lacks well-defined etiology. DNAH12 is special dynein featured by the absence microtubule-binding domain, however, its functions in spermatogenesis remain largely unknown. Through comprehensive genetic analyses involving whole-exome sequencing and subsequent Sanger on infertile patients fertile controls from six distinct families, we unveiled biallelic mutations that co-segregate recessively with infertility studied families....
Asthenoteratozoospermia, a prevalent cause of male infertility, lacks well-defined etiology. DNAH12 is special dynein featured by the absence microtubule-binding domain, however, its functions in spermatogenesis remain largely unknown. Through comprehensive genetic analyses involving whole-exome sequencing and subsequent Sanger on infertile patients fertile controls from six distinct families, we unveiled biallelic mutations that co-segregate recessively with infertility studied families....
Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe form asthenozoospermia categorized by immotile spermatozoa with abnormal in ejaculate. Whole-exome sequencing (WES) used to detect pathogenic variants patients MMAF. In this study, novel homozygous frameshift variant (c.6158_6159insT) dynein axonemal heavy chain 8 (DNAH8) from two infertile brothers MMAF consanguineous Pakistani family was identified WES. Reverse transcription-polymerase reaction (RT-PCR) confirmed...
Asthenoteratozoospermia, a prevalent cause of male infertility, lacks well-defined etiology. DNAH12 is special dynein featured by the absence microtubule-binding domain, however, its functions in spermatogenesis remain largely unknown. Through comprehensive genetic analyses involving whole-exome sequencing and subsequent Sanger on infertile patients fertile controls from six distinct families, we unveiled biallelic mutations that co-segregate recessively with infertility studied families....
What are some pathogenic mutations for non-obstructive azoospermia (NOA) and their effects on spermatogenesis?Biallelic missense frameshift in ADAD2 disrupt the differentiation of round spermatids to spermatozoa causing humans mice.NOA is most severe cause male infertility characterized by an absence sperm ejaculate due impairment spermatogenesis. In mice, lack RNA-binding protein leads a complete epididymides failure spemiogenesis, but spermatogenic human NOA-associated require functional...
The structural integrity of the sperm flagellum is essential for proper function. Flagellar defects can result in male infertility, yet precise mechanisms underlying this relationship are not fully understood. CCDC181, a coiled-coil domain-containing protein, known to localize on flagella and at basal regions motile cilia. Despite knowledge, specific functions CCDC181 biogenesis remain unclear. In study,
Male infertility is a worldwide health issue, affecting 8%-12% of the global population. Oligoasthenoteratozoospermia (OAT) represents severe type male infertility, characterized by reduced sperm count and motility an increased frequency with aberrant morphology. Using whole-exome sequencing, this study identified novel missense mutation (c.848C>A, p.A283E) in coiled-coil domain-containing 34 gene (CCDC34) consanguineous Pakistani family. This rare was predicted to be deleterious affect...
Infertility represents a significant health concern, with sperm quantity and quality being crucial determinants of male fertility. Oligoasthenoteratozoospermia (OAT) is characterized by reduced motility, lower concentration, morphological abnormalities in heads flagella. Although variants several genes have been implicated OAT, its genetic etiologies pathogenetic mechanisms remain inadequately understood. In this study, we identified homozygous nonsense mutation (c.916C>T, p.Arg306*) the...
<title>Abstract</title> <bold>Background:</bold> Cirrhosis is the end-stage liver fibrosis and leads to massive death worldwide. Interstitial lung abnormalities (ILAs) have received widespread attention because of their progression pulmonary mortality. This study aimed investigate whether presence ILAs associated with elevated mortality in patients cirrhosis. <bold>Methods: </bold>Patients diagnosed cirrhosis between August 2011 November 2023 were retrospectively included. Clinical data...
Asthenoteratozoospermia, a prevalent cause of male infertility, lacks well-defined etiology. DNAH12 is special dynein featured by the absence microtubule-binding domain, however, its functions in spermatogenesis remain largely unknown. Through comprehensive genetic analyses involving whole-exome sequencing and subsequent Sanger on infertile patients fertile controls from six distinct families, we unveiled biallelic mutations that co-segregate recessively with infertility studied families....
Abstract Male infertility can result from impaired sperm motility caused by multiple morphological abnormalities of the flagella (MMAF). Distinct projections encircling central microtubules spermatozoal axoneme play pivotal roles in flagellar bending and movement. Mammalian sperm-associated antigen 17 ( SPAG17 ) encodes a conserved axonemal protein cilia flagella, forming part C1a projection apparatus, with functions related to ciliary/flagellar motility, skeletal growth, male fertility....
Abstract Asthenoteratozoospermia, a prevalent cause of male infertility, lacks well-defined etiology. DNAH12 is special dynein featured by the absence microtubule-binding domain, however, its functions in spermatogenesis remain largely unknown. Through comprehensive genetic analyses involving whole-exome sequencing and subsequent Sanger on infertile patients fertile controls from six distinct families, we unveiled biallelic mutations that co-segregate recessively with infertility studied...
The exponential increase in the number of genomes deposited public databases can help us gain a more holistic understanding phylogeny and epidemiology Klebsiella pneumoniae. However, inferring evolutionary relationships K. pneumoniae based on big genomic data is challenging for existing methods. In this study, core genes were determined analysed terms differences GC content, mutation rate, size, potential functions. We then developed stable genes-based method analysis compared it with Our...