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Identification of a novel mutation in the FGF10 gene in a Chinese family with obvious congenital lacrimal duct dysplasia in lacrimo-auriculo-dento-digital syndrome
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作者 Hong-Yang Zhang Chun-Yan Zhang +8 位作者 Fei Wang Hai Tao Ya-Ping Tian Xi-Bin Zhou Fang Bai Peng Wang Jia-Yi Cui Min-Jie Zhang Li-Hua Wang 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2023年第4期499-504,共6页
AIM:To identify the pathogenic gene variant in a family with lacrimo-auriculo-dento-digital syndrome[LADD(MIM 149730)]showing congenital lacrimal duct dysplasia as the main clinical manifestation and lay the foundatio... AIM:To identify the pathogenic gene variant in a family with lacrimo-auriculo-dento-digital syndrome[LADD(MIM 149730)]showing congenital lacrimal duct dysplasia as the main clinical manifestation and lay the foundation for future research on the pathogenic gene.METHODS:Ophthalmological examinations,including slit-lamp biomicroscopy and lacrimal duct probing,and computed tomography dacryocystography(CT-DCG)were performed for all participants.The family pedigree was drawn,genetic features were analyzed,and the genomic DNA of the subjects was extracted.Pathogenic genes were screened via whole exome sequencing(WES)and confirmed using Sanger sequencing.RESULTS:Six patients belonged to this three-generation family,and their clinical manifestations included congenital nasolacrimal duct obstruction,congenital absence of lacrimal puncta and canaliculi,lacrimal fistulae,and limb deformities.This pattern indicates autosomal dominant inheritance.Diagnosis was based on the clinical characteristics of LADD syndrome,which presented in all the patients in this family.A novel frameshif t mutation in the FGF10 gene(NM_004465.1),c.234dup C(p.Trp79Leus*15),was identified in all patients via WES.The variant was confirmed by Sanger sequencing and classified as a“pathogenic mutation”according to the American College of Medical Genetics and Genomics(ACMG)variant interpretation guidelines.CONCLUSION:A novel frameshift mutation in the FGF10 gene is found in all patients.This finding helps this family with LADD syndrome receiving a more accurate clinical diagnosis and genetic counseling by extending the mutation range of the FGF10 gene. 展开更多
关键词 fgf10 gene frameshift mutation congenital lacrimal duct dysplasia LADD syndrome PEDIGREE
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过表达FGF10促进山羊皮下前体脂肪细胞分化 被引量:7
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作者 许晴 李倩 +3 位作者 王永 朱江江 张亚楠 林亚秋 《畜牧兽医学报》 CAS CSCD 北大核心 2019年第10期1972-1984,共13页
本研究在构建山羊FGF 10过表达腺病毒载体的基础上,阐明过表达FGF 10基因对山羊皮下前体脂肪细胞分化的影响及可能的作用机制。本试验利用胶原酶消化法分离获得山羊皮下前体脂肪细胞,采用AdEasy腺病毒包装系统成功构建过表达腺病毒pAdTr... 本研究在构建山羊FGF 10过表达腺病毒载体的基础上,阐明过表达FGF 10基因对山羊皮下前体脂肪细胞分化的影响及可能的作用机制。本试验利用胶原酶消化法分离获得山羊皮下前体脂肪细胞,采用AdEasy腺病毒包装系统成功构建过表达腺病毒pAdTrack-CMV-FGF 10,并感染细胞。采用油红O染色方法从形态学上观察FGF 10对成脂分化的影响;利用qPCR技术检测脂肪细胞分化标志基因、脂代谢相关基因、成纤维细胞生长因子受体(fibroblast growth factor receptors,FGFRs)和Kruppel样因子家族(Kruppel like factors,KLFs)mRNA的相对表达变化。结果显示,在过表达FGF 10后的第2天,皮下脂肪细胞中脂滴聚集显著多于对照组,C/EBPα、LPL、ACACA、FGFR 1和FGFR 3的相对表达水平极显著上调(P<0.01),FASN和ATGL的相对表达水平分别出现显著上调(P<0.05)和显著下调(P<0.05),同时,过表达FGF 10显著上调KLF家族成员KLF 8-10、16和17基因mRNA相对表达水平(P<0.05),显著下调KLF 1、2、4和15基因的相对表达水平(P<0.05)。结果表明,过表达FGF10基因可能通过调控C/EBPα、LPL、FASN、ACACA、ATGL和KLFs部分成员的表达促进山羊皮下前体脂肪细胞的分化及脂滴聚集,结果为进一步阐明其调控山羊不同部位脂肪沉积的分子机理提供重要的数据支撑。 展开更多
关键词 山羊 fgf10基因 皮下脂肪细胞 过表达 分化
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