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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

Frontiers of Medicine 2022, Volume 16, Issue 1,   Pages 150-155 doi: 10.1007/s11684-021-0846-5

Abstract: Overall, c.1210-3C>G, the newly identified pathogenic mutation in our patient, in combination with T5Moreover, this patient carries a p.Gly970Asp mutation, thus confirming the high-frequency of this mutation

Keywords： cystic fibrosis     CFTR     splicing mutation     minigene    

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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

Frontiers of Medicine 2019, Volume 13, Issue 2,   Pages 229-237 doi: 10.1007/s11684-018-0616-1

Abstract: This retrospective analysis aimed to investigate the mutation profile of 16 common mutated genes inMutation profiling of 16 candidate genes were performed in bone marrow samples by using Sanger sequencingWe identified at least 1 mutation in 199 of the 259 samples (76.8%), and 2 or more mutations in 31.7%The results showed certain rules in the mutation profiling and concurrence of AML patients, which wasDefining the mutation spectrum and mutation pattern of AML will contribute to the comprehensive assessment

Keywords： leukemia     myeloid     acute     gene     mutation    

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Distinct gene expression pattern of mutations coordinated by target repression and promoter hypermethylation in acute myeloid leukemia

Frontiers of Medicine 2022, Volume 16, Issue 4,   Pages 627-636 doi: 10.1007/s11684-020-0815-4

Abstract: Runt-related transcription factor 1 (RUNX1) is an essential regulator of normal hematopoiesis. Its dysfunction, caused by either fusions or mutations, is frequently reported in acute myeloid leukemia (AML). However, RUNX1 mutations have been largely under-explored compared with RUNX1 fusions mainly due to their elusive genetic characteristics. Here, based on 1741 patients with AML, we report a unique expression pattern associated with RUNX1 mutations in AML. This expression pattern was coordinated by target repression and promoter hypermethylation. We first reanalyzed a joint AML cohort that consisted of three public cohorts and found that RUNX1 mutations were mainly distributed in the Runt domain and almost mutually exclusive with NPM1 mutations. Then, based on RNA-seq data from The Cancer Genome Atlas AML cohort, we developed a 300-gene signature that significantly distinguished the patients with RUNX1 mutations from those with other AML subtypes. Furthermore, we explored the mechanisms underlying this signature from the transcriptional and epigenetic levels. Using chromatin immunoprecipitation sequencing data, we found that RUNX1 target genes tended to be repressed in patients with RUNX1 mutations. Through the integration of DNA methylation array data, we illustrated that hypermethylation on the promoter regions of RUNX1-regulated genes also contributed to dysregulation in RUNX1-mutated AML. This study revealed the distinct gene expression pattern of RUNX1 mutations and the underlying mechanisms in AML development.

Keywords： RUNX1     gene mutation     acute myeloid leukemia     transcriptional repression     DNA methylation    

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Solving Knapsack Problem by Hybrid Particle Swarm Optimization Algorithm

Gao Shang,Yang Jingyu

Strategic Study of CAE 2006, Volume 8, Issue 11,   Pages 94-98

Abstract: Especially the hybrid particle swarm optimization algorithm derived from across strategy A and mutation

Keywords： particle swarm algorithm     knapsack problem     genetic algorithm     mutation    

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Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice

Frontiers of Medicine   Pages 957-971 doi: 10.1007/s11684-023-0988-8

Abstract: i> deficiency related to PCD in human and mouse models, which suggests that DNAH10 recessive mutation

Keywords： DNAH10     mice     motile cilia     mutation     primary ciliary dyskinesia    

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Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism: a case report

Dong Wang, Min Tian, Guanglin Cui, Dao Wen Wang

Frontiers of Medicine 2018, Volume 12, Issue 3,   Pages 319-323 doi: 10.1007/s11684-017-0553-4

Abstract: antithrombin deficiency combined with decreased protein C activity resulting from a small insertion mutation

Keywords： antithrombin deficiency     protein C activity     mutation     variant     venous thromboembolism     anticoagulants    

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Decitabine induces -mediated immune responses in p53-mutated triple-negative breast cancer: a clinical and translational study

Frontiers of Medicine doi: 10.1007/s11684-023-1016-8

Abstract: p53 is mutated in half of cancer cases. However, no p53-targeting drugs have been approved. Here, we reposition decitabine for triple-negative breast cancer (TNBC), a subtype with frequent p53 mutations and extremely poor prognosis. In a retrospective study on tissue microarrays with 132 TNBC cases, DNMT1 overexpression was associated with p53 mutations (P = 0.037) and poor overall survival (OS) (P = 0.010). In a prospective DEciTabinE and Carboplatin in TNBC (DETECT) trial (NCT03295552), decitabine with carboplatin produced an objective response rate (ORR) of 42% in 12 patients with stage IV TNBC. Among the 9 trialed patients with available TP53 sequencing results, the 6 patients with p53 mutations had higher ORR (3/6 vs. 0/3) and better OS (16.0 vs. 4.0 months) than the patients with wild-type p53. In a mechanistic study, isogenic TNBC cell lines harboring DETECT-derived p53 mutations exhibited higher DNMT1 expression and decitabine sensitivity than the cell line with wild-type p53. In the DETECT trial, decitabine induced strong immune responses featuring the striking upregulation of the innate immune player IRF7 in the p53-mutated TNBC cell line (upregulation by 16-fold) and the most responsive patient with TNBC. Our integrative studies reveal the potential of repurposing decitabine for the treatment of p53-mutated TNBC and suggest IRF7 as a potential biomarker for decitabine-based treatments.

Keywords： p53 mutation     triple-negative breast cancer     decitabine     DNMT1     IRF7     innate immune response    

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Dual faces of SH2-containing protein-tyrosine phosphatase

Shuangwei Li, Diane DiFang Hsu, Hongyang Wang, Gen-Sheng Feng

Frontiers of Medicine 2012, Volume 6, Issue 3,   Pages 275-279 doi: 10.1007/s11684-012-0216-4

Abstract:

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.

Keywords： PTPN11/Shp2     leukemia     hepatocellular carcinoma     mutation    

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AML1-ETO driven acute leukemia: insights into pathogenesis and potential therapeutic approaches

Megan A. Hatlen, Lan Wang, Stephen D. Nimer

Frontiers of Medicine 2012, Volume 6, Issue 3,   Pages 248-262 doi: 10.1007/s11684-012-0206-6

Abstract:

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.

Keywords： AML1-ETO     mouse model     leukemia     t(8     21)     pathway hits     mutation     hematopoiesis     Kasumi-1     CD34+    

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662 A/G gene variation in human tumor necrosis factor receptor superfamily, member 9 (TNFRSF9)

QU Yanchun, YANG Ze, SUN Liang, JI Linong

Frontiers of Medicine 2008, Volume 2, Issue 3,   Pages 283-285 doi: 10.1007/s11684-008-0053-7

Abstract: We found the variation in two families with type 2 diabetes mellitus by D-HPLC mutation screening method

Keywords： D-HPLC mutation     development     autoimmune     PCR-RFLP     candidate    

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Monitoring checkpoint inhibitors: predictive biomarkers in immunotherapy

Min Zhang, Jingwen Yang, Wenjing Hua, Zhong Li, Zenghui Xu, Qijun Qian

Frontiers of Medicine 2019, Volume 13, Issue 1,   Pages 32-44 doi: 10.1007/s11684-018-0678-0

Abstract:

Immunotherapy has become the fourth cancer therapy after surgery, chemotherapy, and radiotherapy. In particular, immune checkpoint inhibitors are proved to be unprecedentedly in increasing the overall survival rates of patients with refractory cancers, such as advanced melanoma, non-small cell lung cancer, and renal cell carcinoma. However, inhibitor therapies are only effective in a small proportion of patients with problems, such as side effects and high costs. Therefore, doctors urgently need reliable predictive biomarkers for checkpoint inhibitor therapies to choose the optimal therapies. Here, we review the biomarkers that can serve as potential predictors of the outcomes of immune checkpoint inhibitor treatment, including tumor-specific profiles and tumor microenvironment evaluation and other factors.

Keywords： immune checkpoint     companion diagnosis     PD-L1     tumor mutation burden     immune score    

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Analysis of the genomic landscape of primary central nervous system lymphoma using whole-genome sequencing in Chinese patients

Frontiers of Medicine   Pages 889-906 doi: 10.1007/s11684-023-0994-x

Abstract: CD79B mutation was significantly associated with lower PFS, TMSB4X mutation and high expression

Keywords： central nervous system lymphoma     whole-genome sequencing     TMSB4X     copy number variation     gene mutation    

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Considerations on Innovation in the Development of Nuclear Agricultural Sciences

Wang Zhidong,Gao Meixu

Strategic Study of CAE 2008, Volume 10, Issue 1,   Pages 86-90

Abstract: nuclear agricultural sciences (NAS) are reviewed .Including the application of nuclear technology in mutation

Keywords： nuclear agricultural sciences     mutation breeding     isotope application     food irradiation     sterile insect technique    

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An optimized grey wolf optimizer based on a mutation operator and eliminating-reconstructing mechanism Article

Xiao-qing ZHANG, Zheng-feng MING

Frontiers of Information Technology & Electronic Engineering 2017, Volume 18, Issue 11,   Pages 1705-1719 doi: 10.1631/FITEE.1601555

Abstract: To perfect the performance of the algorithm, an optimized GWO is proposed based on a mutation operatorTherefore, a mutation operator is introduced to facilitate better searching wolves, and an eliminating

Keywords： Swarm intelligence     Grey wolf optimizer     Optimization     Radial basis function network    

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Growth suppression of colorectal cancer expressing S492R EGFR by monoclonal antibody CH12

Qiongna Dong, Bizhi Shi, Min Zhou, Huiping Gao, Xiaoying Luo, Zonghai Li, Hua Jiang

Frontiers of Medicine 2019, Volume 13, Issue 1,   Pages 83-93 doi: 10.1007/s11684-019-0682-z

Abstract: also named C225, an anti-EGFR monoclonal antibody, for CRC have been demonstrated to cause an S492R mutation, mAb CH12 may be a promising therapeutic agent in treating patients with CRC bearing an S492R EGFR mutation

Keywords： S492R EGFR ectodomain mutation     colorectal cancer     mAb CH12     immunnotherapy    

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Title Author Date Type Operation

Novel mutation c.1210-3C>G in with a poly-T tract of 5T affects mRNA splicing in a Chinese patient

Journal Article

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

Journal Article

Distinct gene expression pattern of mutations coordinated by target repression and promoter hypermethylation in acute myeloid leukemia

Journal Article

Solving Knapsack Problem by Hybrid Particle Swarm Optimization Algorithm

Gao Shang,Yang Jingyu

Journal Article

Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice

Journal Article

Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism: a case report

Dong Wang, Min Tian, Guanglin Cui, Dao Wen Wang

Journal Article

Decitabine induces -mediated immune responses in p53-mutated triple-negative breast cancer: a clinical and translational study

Journal Article

Dual faces of SH2-containing protein-tyrosine phosphatase

Shuangwei Li, Diane DiFang Hsu, Hongyang Wang, Gen-Sheng Feng

Journal Article

AML1-ETO driven acute leukemia: insights into pathogenesis and potential therapeutic approaches

Megan A. Hatlen, Lan Wang, Stephen D. Nimer

Journal Article

662 A/G gene variation in human tumor necrosis factor receptor superfamily, member 9 (TNFRSF9)

QU Yanchun, YANG Ze, SUN Liang, JI Linong

Journal Article

Monitoring checkpoint inhibitors: predictive biomarkers in immunotherapy

Min Zhang, Jingwen Yang, Wenjing Hua, Zhong Li, Zenghui Xu, Qijun Qian

Journal Article

Analysis of the genomic landscape of primary central nervous system lymphoma using whole-genome sequencing in Chinese patients

Journal Article

Considerations on Innovation in the Development of Nuclear Agricultural Sciences

Wang Zhidong,Gao Meixu

Journal Article

An optimized grey wolf optimizer based on a mutation operator and eliminating-reconstructing mechanism

Xiao-qing ZHANG, Zheng-feng MING

Journal Article

Growth suppression of colorectal cancer expressing S492R EGFR by monoclonal antibody CH12

Qiongna Dong, Bizhi Shi, Min Zhou, Huiping Gao, Xiaoying Luo, Zonghai Li, Hua Jiang

Journal Article