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Novel mutation c.1210-3C>G in with a poly-T tract of 5T affects mRNA splicing in a Chinese patient
《医学前沿(英文)》 2022年 第16卷 第1期 页码 150-155 doi: 10.1007/s11684-021-0846-5
Alternative splicing of inner-ear-expressed genes
null
《医学前沿(英文)》 2016年 第10卷 第3期 页码 250-257 doi: 10.1007/s11684-016-0454-y
Alternative splicing plays a fundamental role in the development and physiological function of the inner ear. Inner-ear-specific gene splicing is necessary to establish the identity and maintain the function of the inner ear. For example, exon 68 of Cadherin 23 (Cdh23) gene is subject to inner-ear-specific alternative splicing, and as a result, Cdh23(+68) is only expressed in inner ear hair cells. Alternative splicing along the tonotopic axis of the cochlea contributes to frequency tuning, particularly in lower vertebrates, such as chickens and turtles. Differential splicing of Kcnma1, which encodes for the α subunit of the Ca2+-activated K+ channel (BK channel), has been suggested to affect the channel gating properties and is important for frequency tuning. Consequently, deficits in alternative splicing have been shown to cause hearing loss, as we can observe in Bronx Waltzer (bv) mice and Sfswap mutant mice. Despite the advances in this field, the regulation of alternative splicing in the inner ear remains elusive. Further investigation is also needed to clarify the mechanism of hearing loss caused by alternative splicing deficits.
lncR-GAS5 upregulates the splicing factor to impair endothelial autophagy, leading to atherogenesis
《医学前沿(英文)》 2023年 第17卷 第2期 页码 317-329 doi: 10.1007/s11684-022-0931-4
关键词: lncR-GAS5 miR-193-5p splicing factor SRSF10 autophagy atherogenesis
Andrew Best,Katherine James,Gerald Hysenaj,Alison Tyson-Capper,David J. Elliott
《化学科学与工程前沿(英文)》 2016年 第10卷 第2期 页码 186-195 doi: 10.1007/s11705-015-1540-4
关键词: RNA splicing gene expression breast cancer DNA damage CHK1
《医学前沿(英文)》 页码 907-923 doi: 10.1007/s11684-023-1009-7
Mutation profiling of 16 candidate genes in
Yang Zhang, Fang Wang, Xue Chen, Wenjing Liu, Jiancheng Fang, Mingyu Wang, Wen Teng, Panxiang Cao, Hongxing Liu
《医学前沿(英文)》 2019年 第13卷 第2期 页码 229-237 doi: 10.1007/s11684-018-0616-1
《医学前沿(英文)》 2022年 第16卷 第4期 页码 627-636 doi: 10.1007/s11684-020-0815-4
关键词: RUNX1 gene mutation acute myeloid leukemia transcriptional repression DNA methylation
高尚,杨静宇
《中国工程科学》 2006年 第8卷 第11期 页码 94-98
经典的粒子群是一个有效的寻找连续函数极值的方法,结合遗传算法的思想提出的混合粒子群算法来解决背包问题,经过比较测试,6种混合粒子群算法的效果都比较好,特别交叉策略A和变异策略C的混合粒子群算法是最好的且简单有效的算法,并成功地运用在投资问题中。对于目前还没有好的解法的组合优化问题,很容易地修改此算法就可解决。
Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice
《医学前沿(英文)》 页码 957-971 doi: 10.1007/s11684-023-0988-8
关键词: DNAH10 mice motile cilia mutation primary ciliary dyskinesia
null
《医学前沿(英文)》 2018年 第12卷 第3期 页码 319-323 doi: 10.1007/s11684-017-0553-4
Antithrombin and protein C are two crucial members in the anticoagulant system and play important roles in hemostasis. Mutations in and lead to deficiency or dysfunction of the two proteins, which could result in venous thromboembolism (VTE). Here, we report a Chinese 22-year-old young man who developed recurrent and serious VTE in cerebral veins, visceral veins, and deep veins of the lower extremity. Laboratory tests and direct sequencing of and were conducted for the patient and his family members. Coagulation tests revealed that the patient presented type I antithrombin deficiency combined with decreased protein C activity resulting from a small insertion mutation c.848_849insGATGT in and a short deletion variant c.572_574delAGA in . This combination of the two mutations was absent in 400 healthy subjects each from southern and northern China. Then, we summarized all the mutations of the and gene reported in the Chinese Han population. This study demonstrates that the combination of antithrombin deficiency and decreased protein C activity can result in severe VTE and that the coexistence of different genetic factors may increase the risk of VTE.
关键词: antithrombin deficiency protein C activity mutation variant venous thromboembolism anticoagulants
Xuefei Ma, Wei Zhang, Rong Zhang, Jingming Li, Shufen Li, Yunlin Ma, Wen Jin, Kankan Wang
《医学前沿(英文)》 2019年 第13卷 第3期 页码 330-343 doi: 10.1007/s11684-017-0557-0
《医学前沿(英文)》 doi: 10.1007/s11684-023-1016-8
关键词: p53 mutation triple-negative breast cancer decitabine DNMT1 IRF7 innate immune response
Dual faces of SH2-containing protein-tyrosine phosphatase
null
《医学前沿(英文)》 2012年 第6卷 第3期 页码 275-279 doi: 10.1007/s11684-012-0216-4
PTPN11, which encodes tyrosine phosphatase Shp2, is a critical gene mediating cellular responses to hormones and cytokines. Against original prediction as tumor suppressor for tyrosine phosphatases, PTPN11 was first identified as a proto-oncogene because activating mutations of this gene are associated with leukemogenesis. However, most recent experimental data suggest PTPN11/Shp2 acting as a tumor suppressor in hepatocarcinogenesis. This review focuses on the tumor-promoting or suppressing roles of the gene PTPN11/Shp2 in different cell types.
AML1-ETO driven acute leukemia: insights into pathogenesis and potential therapeutic approaches
null
《医学前沿(英文)》 2012年 第6卷 第3期 页码 248-262 doi: 10.1007/s11684-012-0206-6
The AML1-ETO fusion transcription factor is generated by the t(8;21) translocation, which is present in approximately 4%–12% of adult and 12%–30% of pediatric acute myeloid leukemia (AML) patients. Both human and mouse models of AML have demonstrated that AML1-ETO is insufficient for leukemogenesis in the absence of secondary events. In this review, we discuss the pathogenetic insights that have been gained from identifying the various events that can cooperate with AML1-ETO to induce AML in vivo. We also discuss potential therapeutic strategies for t(8;21) positive AML that involve targeting the fusion protein itself, the proteins that bind to it, or the genes that it regulates. Recently published studies suggest that a targeted therapy for t(8;21) positive AML is feasible and may be coming sometime soon.
关键词: AML1-ETO mouse model leukemia t(8 21) pathway hits mutation hematopoiesis Kasumi-1 CD34+
662 A/G gene variation in human tumor necrosis factor receptor superfamily, member 9 (TNFRSF9)
QU Yanchun, YANG Ze, SUN Liang, JI Linong
《医学前沿(英文)》 2008年 第2卷 第3期 页码 283-285 doi: 10.1007/s11684-008-0053-7
关键词: D-HPLC mutation development autoimmune PCR-RFLP candidate
标题 作者 时间 类型 操作
Novel mutation c.1210-3C>G in with a poly-T tract of 5T affects mRNA splicing in a Chinese patient
期刊论文
lncR-GAS5 upregulates the splicing factor to impair endothelial autophagy, leading to atherogenesis
期刊论文
Transformer2 proteins protect breast cancer cells from accumulating replication stress by ensuring productive splicing
Andrew Best,Katherine James,Gerald Hysenaj,Alison Tyson-Capper,David J. Elliott
期刊论文
High frequency of alternative splicing variants of the oncogene in neuroendocrine tumors of the pancreas
期刊论文
Mutation profiling of 16 candidate genes in
Yang Zhang, Fang Wang, Xue Chen, Wenjing Liu, Jiancheng Fang, Mingyu Wang, Wen Teng, Panxiang Cao, Hongxing Liu
期刊论文
Distinct gene expression pattern of mutations coordinated by target repression and promoter hypermethylation in acute myeloid leukemia
期刊论文
Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism: a case report
null
期刊论文
Overexpressed long noncoding RNA CRNDE with distinct alternatively spliced isoforms in multiple cancers
Xuefei Ma, Wei Zhang, Rong Zhang, Jingming Li, Shufen Li, Yunlin Ma, Wen Jin, Kankan Wang
期刊论文
Decitabine induces -mediated immune responses in p53-mutated triple-negative breast cancer: a clinical and translational study
期刊论文
AML1-ETO driven acute leukemia: insights into pathogenesis and potential therapeutic approaches
null
期刊论文