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- 저자 : Ding-Feng Su (검색결과 3 건)
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Cordblood-Based High-Throughput Screening for Deafness Gene of 646 Newborns in Jinan Area of China
Shou-Xia Li,Ding-Li Chen,Su-Bin Zhao,Li-Li Guo,Hai-Qin Feng,Xiao-Fang Zhang,Li-Li Ping,Zhi-Ming Yang,Cai-Xia Sun,Gen-Dong Yao 대한이비인후과학회 2015 Clinical and Experimental Otorhinolaryngology Vol.8 No.3
Objectives. Infants with slight/mild or late-onset hearing impairment might be missed in universal newborn hearing screening (UNHS). We identified the mutation hot spot of common deaf gene in the newborns in Jinan area population by screening the mutation spot with neonate cord blood, in order to make clear whether the neonate cord blood for screening is feasible. Methods. Six hundred and forty-six newborns were subjected to both UNHS and genetic screening for deafness by using neonate cord blood. The newborn genetic screening targeted four deafness-associated genes, which were commonly found in the Chinese population including gap junction beta-2 protein (GJB2), gap junction beta-3 protein (GJB3), solute carrier family 26 member 4 (SLC26A4), and mtDNA 12S rRNA. The most common 20 spot mutations in 4 deaf genes were detected by MassARRAY iPLEX platform and mitochondrial 12S rRNA A1555G and C1494T mutations were sequenced using Sanger sequencing. Results. Among the 646 newborns, 635 cases passed the UNHS and the other 11 cases (1.7%) did not. Of the 11 failures, two cases were found to carry homozygous GJB2 p.R143W pathogenic mutation, one case was found to have heterozygous GJB2 235delC mutation, and another one case carried heterozygous GJB3 p.R180X pathogenic mutation. Six hundred and thirty-five babies passed the newborn hearing screening, in which 25 babies were identified to carry pathogenic mutations, including 12 heterozygotes (1.9%) for GJB2 235delC, eight heterozygotes (1.3%) for SLC26A4 IVS7-2A>G, one heterozygote (0.2%) for p.R409H, two homozygotes (0.3%) for m.1494C>T, and two homozygotes (0.3%) for m.1555A>G. Conclusion. Newborn genetic screening through the umbilical cord blood for common deafness-associated mutations may identify carriers sensitive to aminoglycoside antibiotic, and can effectively prevent or delay hearing loss occurs.
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Wen-yong Li,Feng-Rui Wu,Deng-kun Li,Mi-mi Su,Yong Liu,Biao Ding,Rong Wang 한국유전학회 2016 Genes & Genomics Vol.38 No.12
The plant Schisandra chinensis contains a phytoestrogens, a type of naturally occurring estrogens which have multiple functions in a number of biological processes. To investigate the correlation between phytoestrogens and epigenetic modification, especially the effect of phytoestrogens on DNA methylation, sexually healthy female mice were used as an animal model in the present study. Briefly, the total RNA and protein were isolated from the ovary of mice after 7-day oral administration of Schisandra chinensis extract (SCE), while distilled water was given to the animals in the control group. Real-time PCR, Western blotting, and enzyme activity assays were performed to examine the effect of the extract of S. chinensis on Dnmt1 transcription and activity. A promoter assay was further conducted in MCF cells (ER positive) to explore also the influence of SCE on Dnmt1 transcriptional activity. The results revealed that the mRNA and protein expression levels of mouse Dnmt1 were both significantly downregulated in the treated group. The transcription of Dnmt1 was suppressed by SCE and in the E2-added group also. Meanwhile the numbers of oocytes at different stages were increased in the treated group when compared by histological analyses with those in the control group. Taken together, the results indicated that, similarly to the action of estrogen, phytoestrogens affected Dnmt1 transcription in mammals, regulating the related gene expression and cell differentiation. The findings of our examination provided also basic data and understanding for the correlation between phytoestrogens and epigenetic modification.
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Yang Sun,Zhen Qin,Jing-jing Wan,Peng-yuan Wang,Yi-Li Yang,Jian-Guang Yu,Bo-Han Hu,Ding-Feng Su,Zhu-Min Luo,Xia Liu 생화학분자생물학회 2018 Experimental and molecular medicine Vol.50 No.-
Gender differences in fatigue manifest as females being more prone to feel exhaustion and having lower muscle endurance. However, the mechanisms of these effects remain unclear. We investigated whether orosomucoid, an endogenous anti-fatigue protein that enhances muscle endurance, is involved in this regulation. Female rats exhibited lower muscle endurance, and this gender difference disappeared in orosomucoid-1-deficient mice. Female rats also exhibited weaker orosomucoid induction in serum, liver and muscle in response to fatigue compared with male rats. Ovariectomy elevated orosomucoid levels and increased swimming time, and estrogen replenishment reversed these effects. Exogenous estrogen treatment in male and female mice produced opposite effects. Estrogen decreased orosomucoid expression and its promoter activity in C2C12 muscle and Chang liver cells in vitro, and estrogen receptor or p38 mitogen-activated protein kinase blockade abolished this effect. Therefore, estrogen negatively regulates orosomucoid expression that is responsible for the weaker muscle endurance in females.
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