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Cancer metastasis: issues and challenges 被引量:8
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作者 Chao-Nan Qian Yan Mei Jian Zhang 《Chinese Journal of Cancer》 SCIE CAS CSCD 2017年第3期108-111,共4页
Metastasis is the major cause of treatment failure in cancer patients and of cancer?related deaths.This editorial discusses how cancer metastasis may be better perceived and controlled.Based on big?data analyses,a col... Metastasis is the major cause of treatment failure in cancer patients and of cancer?related deaths.This editorial discusses how cancer metastasis may be better perceived and controlled.Based on big?data analyses,a collection of150 important pro?metastatic genes was studied.Using The Cancer Genome Atlas datasets to re?analyze the effect of some previously reported metastatic genes—e.g.,JAM2,PPARGC1A,SIK2,and TRAF6—on overall survival of patients with renal and liver cancers,we found that these genes are actually protective factors for patients with cancer.The role of epithelial–mesenchymal transition(EMT)in single?cell metastasis has been well?documented.However,in metastasis caused by cancer cell clusters,EMT may not be necessary.A novel role of epithelial marker E?cadherin,as a sensitizer for chemoresistant prostate cancer cells by inhibiting Notch signaling,has been found.This editorial also discusses the obstacles for developing anti?metastatic drugs,including the lack of high?throughput technologies for identifying metastasis inhibitors,less application of animal models in the pre?clinical evaluation of the leading com?pounds,and the need for adjustments in clinical trial design to better reflect the anti?metastatic efficacy of new drugs.We are confident that by developing more effective high?throughput technologies to identify metastasis inhibitors,we can better predict,prevent,and treat cancer metastasis. 展开更多
关键词 METASTASIS E-CADHERIN EMT jam2 PPARGC1A SIK2 TRAF6
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JAM2基因突变所致常染色体隐性遗传原发性家族性脑钙化一家系研究并文献复习
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作者 庞咪 宋佳 +2 位作者 付俊 李刚 马明明 《中华神经科杂志》 CAS CSCD 北大核心 2022年第2期140-145,共6页
目的报道常染色体隐性遗传原发性家族性脑钙化(PFBC)一家系临床及遗传学特点,提高临床医师对该病认识水平。方法分析2020年1月就诊于河南省人民医院的颅内多发钙化、最终经基因确诊为连接黏附分子2(JAM2)基因突变所致的常染色体隐性遗传... 目的报道常染色体隐性遗传原发性家族性脑钙化(PFBC)一家系临床及遗传学特点,提高临床医师对该病认识水平。方法分析2020年1月就诊于河南省人民医院的颅内多发钙化、最终经基因确诊为连接黏附分子2(JAM2)基因突变所致的常染色体隐性遗传PFBC的先证者及其家庭成员的临床、影像及遗传学资料,结合文献分析JAM2基因相关PFBC的临床及影像学特点。结果该家系先证者为32岁男性,首发症状为言语不利及发作性四肢抽搐,伴认知功能下降、肌张力增高;既往有癫痫病史。头颅CT显示双侧小脑、额颞顶叶、皮质下、基底节区及丘脑多发对称性片状、斑片状高密度钙化影。家系中其他成员无相关临床症状。先证者父母头颅CT未见钙化。先证者基因检测结果提示JAM2基因c.685C>T(p.R229*)纯合变异,先证者父母、子女均存在c.685C>T杂合变异,该变异为国外报道过的致病性突变,国内尚未见报道。结论常染色体隐性遗传性PFBC临床上少见,JAM2基因为2020年新发现的PFBC致病基因,对于颅内多发钙化的患者需警惕该基因突变。 展开更多
关键词 原发性家族性脑钙化 常染色体隐性遗传 jam2基因
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