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一个Liddle综合征新SCNN1B基因移码突变的鉴定 被引量:1
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作者 曲艺 卢伊婷 +14 位作者 张迪 刘欣畅 范鹏 陈洁欣 张涵波 杨坤璂 田涛 周怡 张琼钰 张钰 王林平 黄卓 刘亚欣 胡爱华 周宪梁 《Science Bulletin》 SCIE EI CAS CSCD 2023年第4期383-387,M0003,共6页
Liddle综合征是一种由编码肾小管上皮细胞钠离子通道(ENa Cs)的SCNN1A、SCNN1B及SCNN1G基因突变引起的罕见单基因遗传性高血压,基于基因检测技术进行确诊并及时给予对应治疗可显著改善患者预后.由于发病率低,相关突变位点报道少,目前Lid... Liddle综合征是一种由编码肾小管上皮细胞钠离子通道(ENa Cs)的SCNN1A、SCNN1B及SCNN1G基因突变引起的罕见单基因遗传性高血压,基于基因检测技术进行确诊并及时给予对应治疗可显著改善患者预后.由于发病率低,相关突变位点报道少,目前Liddle综合征突变位点谱仍不完善.本研究通过对野生型及突变型ENa Cs重组非洲爪蟾卵母细胞进行膜片钳检测,首次确定了SCNN1B基因中一个移码突变c.1691_1693delins G对Liddle综合征的致病性.进一步研究结果表明,突变型非洲爪蟾卵母细胞ENa Cs电流显著增加,这与已知的Liddle综合征发病机制一致.此外,本研究通过对该家系中接受阿米洛利/氢氯噻嗪复方制剂治疗的7名患者进行为期12个月的观察研究,发现所有患者血压控制理想,血清钾离子、血浆肾素及醛固酮水平正常,无心血管事件及严重药物不良反应发生.本研究有助于扩大Liddle综合征的基因诊断谱,并为该病的治疗方案提供参考. 展开更多
关键词 血浆肾素 阿米洛利 醛固酮水平 非洲爪蟾卵母细胞 移码突变 基因检测技术 心血管事件 基因诊断
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Factors associated with dysglycemia and its post-surgical resolution in patients with pheochromocytomas
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作者 Lin Zhao Xu Meng +10 位作者 qiongyu zhang Yi Zhou Ting zhang Tao Tian Hua Fan Huadong Zhu Yecheng Liu Fang Luo Linping Wang Weixian Yang Xianliang Zhou 《Science China(Life Sciences)》 SCIE CAS CSCD 2023年第2期411-414,共4页
Dear Editor,Pheochromocytomas are rare neuroendocrine tumors originating from chromaffin cells in the adrenal medulla(Neumann et al., 2019). A number of case reports and small cohorts have reported the association bet... Dear Editor,Pheochromocytomas are rare neuroendocrine tumors originating from chromaffin cells in the adrenal medulla(Neumann et al., 2019). A number of case reports and small cohorts have reported the association between dysglycemia and pheochromocytomas(Elenkova et al., 2020;Khatiwada et al., 2020;Krumeich et al., 2021). However, there are few large sample studies reporting the outcomes of dysglycemia in patients with pheochromocytomas after resection. 展开更多
关键词 PATIENTS cytoma
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Soil acidification in China’s forests due to atmospheric acid deposition from 1980 to 2050 被引量:3
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作者 qiongyu zhang Jianxing Zhu +6 位作者 Qiufeng Wang Li Xu Mingxu Li Guanhua Dai Jan Mulder Yue Xi Nianpeng He 《Science Bulletin》 SCIE EI CSCD 2022年第9期914-917,M0003,共5页
A stable soil pH is essential for maintaining the structure and functions of ecosystems[1].In previous decades,the development model of high energy consumption has rapidly increased the emission of acid precursors.Thi... A stable soil pH is essential for maintaining the structure and functions of ecosystems[1].In previous decades,the development model of high energy consumption has rapidly increased the emission of acid precursors.This has not only resulted in the direct input of acidity into the soil but also in the production of acidity through elements cycling,both of which produce protons(Fig.S1 online)[2].Recent studies have shown that atmospheric acid deposition has decreased by more than half compared with that during the 1990s.The decrease in acid deposition in Europe and North-America has resulted in recovery of soil acidification[3]. 展开更多
关键词 恢复措施 土壤酸化 大气沉降 酸沉降 可持续发展 长期监测 污染控制 氮沉降
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