A5048592019- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- ATP Synthase and ATPases Research
- RNA modifications and cancer
- Nanomaterials for catalytic reactions
- Cancer-related molecular mechanisms research
- RNA and protein synthesis mechanisms
- Catalytic Processes in Materials Science
- Ammonia Synthesis and Nitrogen Reduction
- Drug-Induced Ocular Toxicity
- Cell death mechanisms and regulation
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Genomics and Phylogenetic Studies
- Nicotinic Acetylcholine Receptors Study
- Connexins and lens biology
- Hearing, Cochlea, Tinnitus, Genetics
- Cardiovascular Health and Risk Factors
- Effects of Radiation Exposure
- interferon and immune responses
Fuzhou University
2023-2024
Zhejiang University
2018-2024
Children's Hospital of Zhejiang University
2017-2020
Wenzhou Medical University
2015
To investigate the prevalence and spectrum of mitochondrial ND4 mutations in subjects with Leber's hereditary optic neuropathy (LHON).A cohort 1281 Chinese Han probands 478 control underwent clinical genetic evaluation, sequence analysis (mt) DNA, as well enzymatic assay NADH:ubiquinone oxidoreductase.In this cohort, 503 had a family history 778 were sporadic cases. Mutational gene identified 149 (102 known 47 novel) variants. The m.11778G>A mutation was 35.36%. Furthermore, we m.11696G>A...
Mutations in Gap Junction Beta 2 (GJB2) have been reported to be a major cause of non-syndromic hearing loss many populations worldwide. The spectrums and frequencies GJB2 variants vary substantially among different ethnic groups, the genotypes these remain poorly understood. In present study, we carried out systematic extended mutational screening gene 1067 Han Chinese subjects with loss, resultant were evaluated by phylogenetic, structural bioinformatic analysis. A total 25 (23 known...
Abstract Mitochondrial DNA (mtDNA) mutations have been associated with Leber’s hereditary optic neuropathy (LHON) and their pathophysiology remains poorly understood. In this study, we investigated the of a LHON susceptibility allele (m.3394T>C, p.30Y>H) in (MT)-ND1 gene. The incidence m.3394T>C mutation was 2.7% cohort 1741 probands LHON. Extremely low penetrances were observed 26 pedigrees carrying only mutation, while 21 families bearing m.3394T>C, together...
Mutations in the mitochondrial tRNAs have been reported to be important cause of hearing loss. However, only a few cases identified thus far and prevalence tRNA mutations hearing-impaired patients remain unclear. Here we performed mutational analysis 22 genes large cohort 887 Han Chinese subjects with loss by Sanger sequencing. The systemic evaluation putative pathogenic variants was further carried out frequency controls (<1%), phylogenetic analysis, structural...
The degeneration of retinal ganglion cells (RGC) due to mitochondrial dysfunctions manifests optic neuropathy. However, the molecular components RGC linked neuropathy manifestations remain largely unknown. Here, we identified a novel atrophy-causative CRYAB gene encoding highly conserved major lens protein acting as chaperone and possessing anti-apoptotic activities. heterozygous mutation (c.313G>A, p. Glu105Lys) was cosegregated with autosomal dominant inheritance atrophy in 3 Chinese...
Mitochondrial (mt)DNA mutations have been revealed to be associated with Leber's hereditary optic neuropathy (LHON). The present study conducted clinical, genetic and molecular evaluations of two Han Chinese families. A total 4 (3 men 1 female) out 14 matrilineal relatives in the families exhibited visual impairment variable severity age onset. average onset loss was 20.5 years old. Molecular analysis complete mitochondrial genome these pedigrees demonstrated that three primary LHON were not...
The low-temperature N 2 -to-NH 3 conversion of Ru/BN catalysts could be improved via dopant Ce species. A strong Ru δ + –Ce 3+ electronic interaction induced by a CeO y overlayer resulted in an excellent performance for NH synthesis over RuCe x /BN.
To identify secondary mutations associated with deafness in a Chinese family affected deafness.The has been subjected to clinical and molecular analyses, addition measurement of reactive oxygen species doubling time after establishment immortalized lymphocyte cell lines.The results showed that the hearing loss level audiometric configuration were discrepant among members maternally transmitted loss. The penetrance this was respectively 66.7% 44.4% when aminoglycoside-induced included or...