|
|
|
题名
|
作者
|
年代
|
出处
|
被引量
|
| 1 | DNA methylation profile is associated with the osteogenic potential of three distinct human odontogenic stem cells显示文摘Among the various sources of human autologous stem cells,stem cells isolated from dental tissues exhibit excellent properties in tissue engineering and regenerative medicine.However,the distinct potential of these odontogenic cell lines remains unclear.In this study,we analyzed DNA methylation patterns to determine whether specific differences existed among three different odontogenic cell types.Using the HumanMethylation450 Beadchip,the whole genomes of human dental pulp stem cells(DPSCs),periodontal ligament stem cells(PDLSCs),and dental follicle progenitor cells(DFPCs)were compared.Then,the osteogenic potential of these cells was evaluated both in vitro and in vivo,and the methylation levels of certain genes related to bone formation differed among the three cell lines.P values less than 0.05 were considered to indicate statistical significance.The three cell types showed highly similar DNA methylation patterns,although specific differences were identified.Gene ontology analysis revealed that one of the most significantly different gene categories was related to bone formation.Thus,expression of cell surface epitopes and osteogenic-related transcription factors as well as the bone formation capacity were compared.The results showed that compared with DFPCs and DPSCs,PDLSCs had higher transcription levels of osteogenic-related factors,a higher in vitro osteogenic potential,and an increased new bone formation capacity in vivo.In conclusion,the results of this study suggested that the differential DNA methylation profiles could be related to the osteogenic potential of these human odontogenic cell populations.Additionally,the increased osteogenic potential of PDLSCs might aid researchers or clinicians in making better choices regarding tissue regeneration and clinical therapies. | Tingting Ai Jieni Zhang Xuedong Wang Xiaowen Zheng Xueyan Qin Qian Zhang Weiran Li Wei Hu Jiuxiang Lin Feng Chen | 2018 | Signal Transduction and Targeted Therapy2018，3，1： | 3 |
| 2 | Machine Learning Models for Genetic Risk Assessment of Infants with Non-syndromic Orofacial Cleft显示文摘The isolated type of orofacial cleft, termed non-syndromic cleft lip with or without cleft palate(NSCL/P), is the second most common birth defect in China, with Asians having the highest incidence in the world. NSCL/P involves multiple genes and complex interactions between genetic and environmental factors, imposing difficulty for the genetic assessment of the unborn fetus carrying multiple NSCL/P-susceptible variants. Although genome-wide association studies(GWAS)have uncovered dozens of single nucleotide polymorphism(SNP) loci in different ethnic populations, the genetic diagnostic effectiveness of these SNPs requires further experimental validation in Chinese populations before a diagnostic panel or a predictive model covering multiple SNPs can be built. In this study, we collected blood samples from control and NSCL/P infants inHan and Uyghur Chinese populations to validate the diagnostic effectiveness of 43 candidate SNPs previously detected using GWAS. We then built predictive models with the validated SNPs using different machine learning algorithms and evaluated their prediction performance. Our results showed that logistic regression had the best performance for risk assessment according to the area under curve. Notably, defective variants in MTHFR and RBP4, two genes involved in folic acid and vitamin A biosynthesis, were found to have high contributions to NSCL/P incidence based on feature importance evaluation with logistic regression. This is consistent with the notion that folic acid and vitamin A are both essential nutritional supplements for pregnant women to reduce the risk of conceiving an NSCL/P baby. Moreover, we observed a lower predictive power in Uyghur than in Han cases, likely due to differences in genetic background between these two ethnic populations.Thus, our study highlights the urgency to generate the HapMap for Uyghur population and perform resequencing-based screening of Uyghur-specific NSCL/P markers. | Shi-Jian Zhang Peiqi Meng Jieni Zhang Peizeng Jia Jiuxiang Lin Xiangfeng Wang Feng Chen Xiaoxing Wei | 2018 | Genomics, Proteomics & Bioinformatics2018，16，5： | 3 |
| 3 | A novel FZD6 mutation revealed the cause of cleft lip and/or palate in a Chinese family显示文摘Cleft lip and/or palate(CL/P)is a most common craniofacial birth defect which has multifactorial etiology.In our study,we aimed to discover the underlying etiological gene variation in a Chinese family diagnosed as non-syndromic CL/P(NSCL/P).The blood sample of the proband and her parents were detected by whole exome sequencing.The Mendelian inheritance pattern,allele frequency,variation location,function analysis and literature search were applied to filtrate and screen the mutation.Besides,the candidates were confirmed by Sanger sequencing.We meanwhile explored the conservative analysis and protein homology simulation.As a result,a start-lost mutation c.1A>GAtg/Gtg in the Frizzled-6(FZD6)gene predicting p.Met1 was detected.The variation has not been reported before and was predicted to be harmful.The alteration caused missing of two starting amino acids that are evolutionarily conserved for FZD6 protein.Moreover,the specific structure of the mutant protein obviously changed according to the results of the homologous model.In conclusion,the results suggest c.1A>GAtg/Gtg in the FZD6(NM_001164616)might be the genetic etiology for non-syndromic CL/P in this pedigree.Furthermore,this finding provided new etiologic information,supplementing the evidence that FZD6 is a strong potential gene for CL/P. | Jieni Zhang Huaxiang Zhao Wenbin Huang Fengqi Song Wenjie Zhong Mengqi Zhang Yunfan Zhang Zhibo Zhou Jiuxiang Lin Feng Chen | 2020 | Genes & Diseases2020，7，3： | 0 |
| 4 | Rare loss-of-function variants in FLNB cause non-syndromic orofacial clefts显示文摘Orofacial clefts (OFCs) are the most common congenital craniofacial disorders, of which the etiology is closely related to rare coding variants. Filamin B (FLNB) is an actin-binding protein implicated in bone formation. FLNB mutations have been identified in several types of syndromic OFCs and previous studies suggest a role of FLNB in the onset of non-syndromic OFCs (NSOFCs). Here, we report two rare heterozygous variants (p.P441T and p.G565R) in FLNB in two unrelated hereditary families with NSOFCs. Bioinformatics analysis suggests that both variants may disrupt the function of FLNB. In mammalian cells, p.P441T and p.G565R variants are less potent to induce cell stretches than wild type FLNB, suggesting that they are loss-of-function mutations. Immunohistochemistry analysis demonstrates that FLNB is abundantly expressed during palatal development. Importantly, Flnb^(−/−) embryos display cleft palates and previously defined skeletal defects. Taken together, our findings reveal that FLNB is required for development of palates in mice and FLNB is a bona fide causal gene for NSOFCs in humans. | Wenbin Huang Shiying Zhang Jiuxiang Lin Yi Ding Nan Jiang Jieni Zhang Huaxiang Zhao Feng Chen | 2024 | Journal of Genetics and Genomics2024，51，2： | 0 |
| 5 | Expressing a human RNA demethylase as an assister improves gene-editing efficiency in显示文摘Dear Editor,Despite myriad successful applications of gene editing in plant functional genomics research and precision breeding,many challenges persist around the efficiency of gene-editing tools for many plant species.For instance,soybean(Glycine max)is a major crop providing oil and protein to human diets and feedstock,but its gene-editing efficiency remains relatively low(Bai et al.,2019). | Mengyan Bai Wenxin Lin Chunyan Peng Peizhe Song Huaqin Kuang Jieni Lin Jieping Zhang Jiyao Wang Bo Chen Huarong Li Fanjiang Kong Guifang Jia Yuefeng Guan | 2024 | Molecular Plant2024，17，3： | 0 |
您所在的机构暂未开通此部分的功能，请联系管理员