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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: The splicing effect of c.1210-3C>G was verified via minigene assay in vitro, indicating that wild-typeOverall, c.1210-3C>G, the newly identified pathogenic mutation in our patient, in combination with T5sequence in cis, affects the CFTR gene splicing and produces nearly no normal transcriptMoreover, 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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Alternative splicing of inner-ear-expressed genes

Yanfei Wang,Yueyue Liu,Hongyun Nie,Xin Ma,Zhigang Xu

Frontiers of Medicine 2016, Volume 10, Issue 3,   Pages 250-257 doi: 10.1007/s11684-016-0454-y

Abstract:

Alternative splicing plays a fundamental role in the development and physiological function of theInner-ear-specific gene splicing is necessary to establish the identity and maintain the function of, exon 68 of Cadherin 23 (Cdh23) gene is subject to inner-ear-specific alternative splicingDifferential splicing of Kcnma1, which encodes for the α subunit of the Ca2+splicing have been shown to cause hearing loss, as we can observe

Keywords： alternative splicing     inner ear     hearing loss     hair cells    

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lncR-GAS5 upregulates the splicing factor to impair endothelial autophagy, leading to atherogenesis

Frontiers of Medicine 2023, Volume 17, Issue 2,   Pages 317-329 doi: 10.1007/s11684-022-0931-4

Abstract: Moreover, serine/arginine-rich splicing factor 10 (SRSF10) knockdown increased the LC3II/LC3IMechanistically, lncR-GAS5 regulated the downstream splicing factor SRSF10 to impair autophagy

Keywords： lncR-GAS5     miR-193-5p     splicing factor SRSF10     autophagy     atherogenesis    

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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

Frontiers of Chemical Science and Engineering 2016, Volume 10, Issue 2,   Pages 186-195 doi: 10.1007/s11705-015-1540-4

Abstract: Increased expression levels of the RNA splicing regulator Transformer2 (abbreviated Tra2 ) have beenThis cross-regulation involves splicing control of a special class of exons, called poison exons.Down-regulation of Tra2 reduces splicing inclusion of a poison exon in the mRNA encoding Tra2 , therebyThis buffers any splicing changes that might be caused by individual depletion of Tra2 alone.These data suggest Tra2 proteins and/or their splicing targets as possible cancer drug targets.

Keywords： RNA splicing     gene expression     breast cancer     DNA damage     CHK1    

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High frequency of alternative splicing variants of the oncogene in neuroendocrine tumors of the pancreas

Frontiers of Medicine   Pages 907-923 doi: 10.1007/s11684-023-1009-7

Abstract: Here, based on the analysis of the splicing variants of an oncogene Focal Adhesion Kinase (We further tested FAK splicing variants in breast neuroendocrine carcinoma (BrNECs), and foundWe explored the underlying mechanisms and found that a splicing factor serine/arginine repetitive matrix

Keywords： FAK6/7     SRRM4     neuroendocrine neoplasms     pancreas     breast    

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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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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

Frontiers of Medicine 2019, Volume 13, Issue 3,   Pages 330-343 doi: 10.1007/s11684-017-0557-0

Abstract: Alternative splicing is a tightly regulated process that contributes to cancer development.CRNDE is a long noncoding RNA with alternative splicing and is implicated in the pathogenesis of several

Keywords： long noncoding RNA     CRNDE     alternative splicing    

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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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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

Alternative splicing of inner-ear-expressed genes

Yanfei Wang,Yueyue Liu,Hongyun Nie,Xin Ma,Zhigang Xu

Journal Article

lncR-GAS5 upregulates the splicing factor to impair endothelial autophagy, leading to atherogenesis

Journal Article

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

Journal Article

High frequency of alternative splicing variants of the oncogene in neuroendocrine tumors of the pancreas

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

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

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