【摘 要】
:
Osterix (Osx) , a C2H2-type zinc-finger containing transcription factor, plays an essential role in controlling osteoblast differentiation and bone formation.The precise molecular regulation of Osx ex
【机 构】
:
Department of Developmental Genetics, Nanjing Medical University, Hanzhong Road 140,Nanjing 210029,
论文部分内容阅读
Osterix (Osx) , a C2H2-type zinc-finger containing transcription factor, plays an essential role in controlling osteoblast differentiation and bone formation.The precise molecular regulation of Osx expression is still not fully understood.Here, we studied the post-translational regulation of Osx by acetylation.
其他文献
In this study, we prepared a multifunctional oligosaccharides of hyaluronan (oHA) conjugates,oHA-histidine-menthone 1,2-glycerol ketal (oHM).The oHM conjugates possess pH-sensitive menthone 1,2-glycer
Smart nanocarriers are of particular interest as nanoscale vehicles of imaging and therapeutic agents in the field of theranostics.Herein, as a proof-of-concept, we report dually pH/reduction-responsi
Biodegradable poly(lactic-co-glycolic acid) (PLGA) nanoparticles (NPs) containing interferon (IFN) α-2b were loaded in chitosan-based thermosensitive hydrogels for sustained delivery of IFN.The inject
Icariin, the main active component in Herba Epimdii, has good anti-osteoprotic activity.However, its poor absorption leads to low bioavailability.Icariin is predominantly hydrolyzed into secondary gly
目的:探讨二代测序(Next generation sequencing,NGS)技术检测假肥大型肌营养不良(Duchenne muscular dystrophy,DMD)患者的可行性.方法:用NGS技术检测3例DMD患者,并用Sanger测序技术对NGS技术检测结果进行验证,同时对家系其他成员的相应位点进行分析.结果:NGS技术结果表明,患者#1为DMD基因编码区第29号外显子存在1个错义突变
目的:探讨多重连接依赖式探针扩增技术(Multiplex ligation-dependent probe amplification,MLPA)技术对假肥大型肌营养不良症(Duchenne/Becker muscular dystrophy,DMD/BMD)患者进行分子诊断、携带者筛查和产前诊断的应用价值.方法:应用MLPA技术对具有典型表型的18例患者进行DMD基因79个外显子的缺失或重复突变
目的:Floating-Harbor syndrome是一种罕见的常染色体显性遗传病,目前仅有50例被报道,以身材矮小、骨龄延迟、语言发育迟缓及特殊面容为主要临床特征,大多数患者伴轻度智力障碍.典型的面部特征包括三角脸、发际线低、眼睛深凹、长睫毛、短人中、薄嘴唇、鼻小柱悬垂等.此外,某些患者具有短指/趾、杵状指、第五指弯曲及高音等临床特征,男性患者常伴有隐睾.本研究对1例生长发育迟缓(-7SD)、
Medical genetics and genomics is a newly developed clinical specialty built upon accumulated knowledge of human genetics and discoveries of thousands of genetic disorders.
Genomic disorders are caused by large copy number variations (CNVs, including deletions and duplications)in the human genome.Different from single nucleotide variations (SNVs) which can be easily mapp
特发性基底节钙化(Idiopathic basal ganglia calcification,IBGC)是一种以基底节及大脑其他部位钙化为特征的神经系统遗传疾病,患者可出现运动障碍及认知、精神异常,尚无有效药物治疗。本研究通过家系连锁分析和候选基因克隆,发现导致该疾病发生的第一个致病基因SLC20A2,目前发现有40%的IBGC患者因携带SLC20A2突变致病,提示该基因为IBGC最常见的致病基