【摘 要】
：
Ectodermal dysplasiais a group of syndromes that involves abnormalities of the ectodermal structures including hairs,glands,teeth and so on.Hypodontiabelongs to ectodermal dysplasia,X-linked hypohidro
【机 构】
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Key Laboratory of Molecular Biophysics Ministry of Education,College of Life Science and Technology,
【出 处】
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中国生物化学与分子生物学会2016年全国学术会议
论文部分内容阅读
Ectodermal dysplasiais a group of syndromes that involves abnormalities of the ectodermal structures including hairs,glands,teeth and so on.Hypodontiabelongs to ectodermal dysplasia,X-linked hypohidrotic ectodermal dysplasia(XLHED),is characterized by missing or sparse hair(hypotrychosis),abnormal or missing teeth,reduced sweating ability(hypohidrosis),and defects of various lipid or mucus-secreting glands.Non-syndromichypodontia(NSH)is characterized only by abnormal or missing teeth.In this research,two typical recombinant EDA mutantplasmids,c.T779G(lead to NSH)and c.T1061C(lead to XLHED),and cell lines with high expression of EDAR-His were constructed.Using these materials,we found that mutant EDA could different degree affect the expression of EDAR/NFκB pathway,causing NSH and XLHED.But there were no significant difference at mRNA level.And after using an inhibitor of proteasome,EDA-779 and EDA-1061 still had impact to the expression of EDAR/NFκB pathway.The mechanism of EDA affecting the pathway is still unclear.
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