目的检测一个Meleda角化病(mal de Meleda)家系中SLURP1基因突变情况,为该病的临床诊断与遗传咨询提供依据。方法采集患者及其父母外周血,提取基因组DNA,针对SLURP1基因设计特异性引物,聚合酶链反应(PCR)扩增SLURP1基因的全部编码及侧...目的检测一个Meleda角化病(mal de Meleda)家系中SLURP1基因突变情况,为该病的临床诊断与遗传咨询提供依据。方法采集患者及其父母外周血,提取基因组DNA,针对SLURP1基因设计特异性引物,聚合酶链反应(PCR)扩增SLURP1基因的全部编码及侧翼序列,对扩增产物进行直接测序,并采集患者配偶外周血进行SLURP1基因检测。结果在患者血中发现SLURP1基因的纯合错义突变c.256G>A(p.G86R),患者父母则存在该位点的杂合突变;患者配偶未发现SLURP1基因异常。结论 SLURP1基因的c.256G>A纯合错义突变,是引起该Meleda角化病患者发病的病因。展开更多
With such a strange ti fie, I can see from here readers raise theh＂ eye-brows, asking： what is the link between tea brewed in a West African country, and noodles from Gansu Province in northwest China？ Rest assured...With such a strange ti fie, I can see from here readers raise theh＂ eye-brows, asking： what is the link between tea brewed in a West African country, and noodles from Gansu Province in northwest China？ Rest assured. That is a very good question, and one that will soon be answered. But before I do, let me first introduce myself, and my love affair with China.展开更多
To adapt to gravitational forces during the transition to terrestrial life,animals evolved specialized paw skin to withstand their body weight and allow for locomotion.In a recent Cell article,Di et al.demonstrate SLU...To adapt to gravitational forces during the transition to terrestrial life,animals evolved specialized paw skin to withstand their body weight and allow for locomotion.In a recent Cell article,Di et al.demonstrate SLURP1 as an endoplasmic reticulum(ER)membrane protein that protects palmoplantar keratinocytes from mechanical stress by preserving SERCA2b activity and inhibiting the pPERK-NRF2 signaling under mechanical pressure.展开更多
文摘目的检测一个Meleda角化病(mal de Meleda)家系中SLURP1基因突变情况,为该病的临床诊断与遗传咨询提供依据。方法采集患者及其父母外周血,提取基因组DNA,针对SLURP1基因设计特异性引物,聚合酶链反应(PCR)扩增SLURP1基因的全部编码及侧翼序列,对扩增产物进行直接测序,并采集患者配偶外周血进行SLURP1基因检测。结果在患者血中发现SLURP1基因的纯合错义突变c.256G>A(p.G86R),患者父母则存在该位点的杂合突变;患者配偶未发现SLURP1基因异常。结论 SLURP1基因的c.256G>A纯合错义突变,是引起该Meleda角化病患者发病的病因。
文摘With such a strange ti fie, I can see from here readers raise theh＂ eye-brows, asking： what is the link between tea brewed in a West African country, and noodles from Gansu Province in northwest China？ Rest assured. That is a very good question, and one that will soon be answered. But before I do, let me first introduce myself, and my love affair with China.
基金supported by Applied Basic Research Foundation of Yunnan Province,No.202501AT070205(W.N.).
文摘To adapt to gravitational forces during the transition to terrestrial life,animals evolved specialized paw skin to withstand their body weight and allow for locomotion.In a recent Cell article,Di et al.demonstrate SLURP1 as an endoplasmic reticulum(ER)membrane protein that protects palmoplantar keratinocytes from mechanical stress by preserving SERCA2b activity and inhibiting the pPERK-NRF2 signaling under mechanical pressure.
