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Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in

《医学前沿（英文）》 2022年 第16卷 第5期   页码 808-814 doi: 10.1007/s11684-021-0878-x

摘要： Epidermolysis bullosa (EB) is a group of clinically and genetically heterogeneous diseases characterized by trauma-induced mucocutaneous fragility and blister formation. Here, we investigated five Chinese families with EB, and eight variants including a novel nonsense variant (c.47G>A, p.W16*) in LAMA3, a known recurrent variant (c.74C>T, p.P25L) in KRT5, 2 novel (c.2531T>A, p.V844E; c.6811_6814del, p.R2271fs) and 4 known (c.6187C>T, p.R2063W; c.7097G>A, p.G2366D; c.8569G>T, p.E2857*; c.3625_3635del, p.S1209fs) variants in COL7A1 were detected. Notably, this study identified a nonsense variant in LAMA3 that causes EB within the Chinese population and revealed that this variant resulted in a reduction in LAMA3 mRNA and protein expression levels by nonsense-mediated mRNA decay. Our study expands the mutation spectra of Chinese patients with EB.

关键词： epidermolysis bullosa     LAMA3     COL7A1     KRT5     Chinese families    

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Identification of variants associated with sporadic thoracic aortic dissection: a case--control study

《医学前沿（英文）》 2021年 第15卷 第3期   页码 438-447 doi: 10.1007/s11684-020-0826-1

摘要： Thoracic aortic dissection (TAD) without familial clustering or syndromic features is known as sporadic TAD (STAD). So far, the genetic basis of STAD remains unknown. Whole exome sequencing was performed in 223 STAD patients and 414 healthy controls from the Chinese Han population (N = 637). After population structure and genetic relationship and ancestry analyses, we used the optimal sequence kernel association test to identify the candidate genes or variants of STAD. We found that COL3A1 was significantly relevant to STAD (P = 7.35 × 10−6) after 10 000 times permutation test (P = 2.49 × 10−3). Moreover, another independent cohort, including 423 cases and 734 non-STAD subjects (N = 1157), replicated our results (P = 0.021). Further bioinformatics analysis showed that COL3A1 was highly expressed in dissected aortic tissues, and its expression was related to the extracellular matrix (ECM) pathway. Our study identified a profile of known heritable TAD genes in the Chinese STAD population and found that COL3A1 could increase the risk of STAD through the ECM pathway. We wanted to expand the knowledge of the genetic basis and pathology of STAD, which may further help in providing better genetic counseling to the patients.

关键词： sporadic thoracic aortic dissection     exome sequencing     gene COL3A1     case–control study     extracellular matrix    

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A 7-year follow-up study of the features and transformations of elderly male patients with OGTT-1h hyperglycemia

TIAN Hui, LI Chunlin, ZHONG Wenwen, PAN Changyu, LU Juming, CAO Xiutang

《医学前沿（英文）》 2008年 第2卷 第4期   页码 396-399 doi: 10.1007/s11684-008-0076-0

摘要： The aim of this paper is to investigate the clinical features and transformation of elderly male patients with normal blood glucose levels at fasting and 2 hours after glucose intake but with hyperglycemia (≥ 11.1 mmol/L) 1 hour after oral glucose tolerance test (OGTT-1h HG). Seven years of follow-up visits were performed on 189 elderly male outpatients with OGTT-1h HG and data was recorded on their body mass index (BMI), blood pressure, serum cholesterol and triglyceride test results and on their glucose tolerance changes every 1–2 years after taking OGTT; their possible causes were analysed. Follow-up visits revealed that 19 patients with OGTT-1h HG were diagnosed with diabetes (10.1%), 78 patients with impaired glucose tolerance (IGT, 41.3%), 2 patients transformed to normal glucose tolerance (NGT, 1.1%) and the remaining 90 patients (47.6%) remained unchanged. Synchronized comparison with IGT patients showed that the ratio of OGTT-1h HG patients turning to diabetes was lower than that of IGT patients (21.1%, = 13.05, < 0.01), and the ratio of OGTT-1h HG patients transforming to NGT was slightly higher (0.4%, = 2.46, > 0.05). The prevalence of complications of hypertension, coronary heart disease, cerebral vascular diseases and dyslipidemia in patients with OGTT-1h HG were higher than those with NGT ( < 0.05) and were similar to that of IGT patients. As a special phenotype of OGTT and as part of an abnormal glucose tolerance conformation, patients with OGTT-1h HG warrant special attention, since about half of them were found to have developed diabetes or IGT, and their risk of suffering from vascular diseases were also increased.

关键词： special attention     prevalence     unchanged     dyslipidemia     elderly    

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Enhancement of open circuit voltage in organic solar cells by doping a fluorescent red dye

Qing LI, Junsheng YU, Yue ZANG, Nana WANG, Yadong JIANG

《能源前沿（英文）》 2012年 第6卷 第2期   页码 179-183 doi: 10.1007/s11708-012-0177-y

摘要： The open circuit voltage ( ) of small-molecule organic solar cells (OSCs) could be improved by doping suitable fluorescent dyes into the donor layers. In this paper, 4-(dicyanomethylene)-2-t-butyl-6-(1,1,7,7-tetramethyljulolidyl-9-enyl)-4H-pyran (DCJTB) was used as a dopant, and the performance of the OSCs with different DCJTB concentration in copper phthalocyanine (CuPc) was studied. The results showed that the of the OSC with 50% of DCJTB in CuPc increased by 15%, compared with that of the standard CuPc/fullerene (C ) device. The enhancement of the was attributed to the lower highest occupied molecular orbital (HOMO) level in the DCJTB than that in the CuPc. Also, the light absorption intensity is enhanced between 400 and 550 nm, where CuPc and C have low absorbance, leading to a broad absorption spectrum.

关键词： organic solar cells (OSCs)     open circuit voltage     fluorescent dye doping     4-(dicyanomethylene)-2-t-butyl-6-(1     1     7     7-tetramethyljulolidyl-9-enyl)-4H-pyran (DCJTB)    

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Resistance of large deformation of the Wushaoling Tunnel F7 soft fault

ZHAO Xufeng, CHEN Haiming, WANG Chunmiao

《结构与土木工程前沿（英文）》 2007年 第1卷 第1期   页码 123-127 doi: 10.1007/s11709-007-0013-3

摘要： In this article, the mechanical characteristics of the squeeze of the F7 fault of the Wushaoling Tunnel are analyzed. The measurements and techniques are proposed to resist the deformation. The result indicates that the method of construction to control the further squeeze deflection is appropriate.

关键词： F7     deformation     appropriate     construction     mechanical    

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中国工程科学2005年第7卷总目次

null

《中国工程科学》 2005年 第7卷 第12期   页码 98-102

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Acid Orange 7 degradation using methane as the sole carbon source and electron donor

《环境科学与工程前沿（英文）》 2022年 第16卷 第3期 doi: 10.1007/s11783-021-1468-5

摘要：

• AO7 degradation was coupled with anaerobic methane oxidation.

关键词： Azo dyes     AO7 degradation     Anaerobic methane oxidation     Microbial community     ANME-2d    

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Time-dependent metabolomics uncover dynamic metabolic adaptions in MCF-7 cells exposed to bisphenol A

《环境科学与工程前沿（英文）》 2023年 第17卷 第1期 doi: 10.1007/s11783-023-1604-5

摘要：

● Metabolomic temporal profiling of cells exposed to xenobiotics.

关键词： Metabolomics     BPA     MCF-7     Temporal profiling     Metabolic adaption     Dysregulation correlation    

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Nicotinic acetylcholine receptor α7 subunit: a novel therapeutic target for cardiovascular diseases

null

《医学前沿（英文）》 2012年 第6卷 第1期   页码 35-40 doi: 10.1007/s11684-012-0171-0

摘要：

Inflammation is important in the pathogenesis and development of cardiovascular diseases. Recent studies show that vagus nerve stimulation inhibits pro-inflammatory cytokine production through “the cholinergic anti-inflammatory pathway,” more specifically via the α7 nicotinic acetylcholine receptor (α7nAChR). In the current study, the role of the cholinergic anti-inflammatory pathway during septic shock, hypertension, and myocardial infarction is reviewed, and its possible clinical implications in cardiovascular diseases are discussed.

关键词： α7 nicotinic acetylcholine receptor     cardiovascular diseases     baroreflex sensitivity    

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Research progress on human infection with avian influenza H7N9

Xiaoxin Wu, Lanlan Xiao, Lanjuan Li

《医学前沿（英文）》 2020年 第14卷 第1期   页码 8-20 doi: 10.1007/s11684-020-0739-z

摘要： Since the first case of novel H7N9 infection was reported, China has experienced five epidemics of H7N9. During the fifth wave, a highly pathogenic H7N9 strain emerged. Meanwhile, the H7N9 virus continues to accumulate mutations, and its affinity for the human respiratory epithelial sialic acid 2-6 receptor has increased. Therefore, a pandemic is still possible. In the past 6 years, we have accumulated rich experience in dealing with H7N9, especially in terms of virus tracing, epidemiological research, key site mutation monitoring, critical disease mechanisms, clinical treatment, and vaccine development. In the research fields above, significant progress has been made to effectively control the spread of the epidemic and reduce the fatality rate. To fully document the research progress concerning H7N9, we reviewed the clinical and epidemiological characteristics of H7N9, the key gene mutations of the virus, and H7N9 vaccine, thus providing a scientific basis for further monitoring and prevention of H7N9 influenza epidemics.

关键词： H7N9     pandemic     epidemiology     mutations     vaccine     influenza    

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A study on rapid acid chrome black (MB 7) spectrophotometric determination of ClO

Jing DONG, Huilong WANG

《化学科学与工程前沿（英文）》 2011年 第5卷 第2期   页码 245-251 doi: 10.1007/s11705-010-1003-x

摘要： Experiments were conducted to investigate the degradation of 2,6-dinitro- -cresol (DNPC) in the chlorine dioxide (ClO ) catalytic oxidation process. Pure aluminum oxide was used as the catalyst in this process. The degradation of DNPC by ClO using aluminum oxide as catalyst was systematically studied by varying the experimental parameters, such as pH values, catalyst dosage, the initial concentration of DNPC and ClO , reaction time, etc. Under optimal condition (DNPC concentration 39 mg·L , ClO concentration 0.234 g·L , reaction time 15 min, catalyst dosage 4.7 g·L and pH 4.32), almost complete degradation of DNPC can be achieved. The kinetic studies revealed that the ClO catalytic oxidation degradation of DNPC followed pseudo-first-order kinetics with respect to both ClO and DNPC concentration. The repetitive use of the catalyst was investigated along sequential feed-batch trials. The catalyst performed efficiently after five runs. In addition, a simple and convenient method for the determination of ClO in water was developed by using acid chrome black 7 (MB 7) spectrophotometry in this paper.

关键词： chlorine dioxide     2     6-dinitro-p-cresol (DNPC)     aluminum oxide     water treatment     MB 7 spectrophotometry    

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

《医学前沿（英文）》 doi: 10.1007/s11684-023-1016-8

摘要： 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.

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

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Erratum to “After Highflyer Crashes, Airborne Wind Energy Regroups” [Engineering 7 (2021) 277–279]

Peter Weiss

《工程（英文）》 2021年 第7卷 第10期   页码 1506-1506 doi: 10.1016/j.eng.2021.08.004

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Universal influenza virus vaccines: what can we learn from the human immune response following exposure to H7

null

《医学前沿（英文）》 2017年 第11卷 第4期   页码 471-479 doi: 10.1007/s11684-017-0602-z

摘要：

Several universal influenza virus vaccine candidates based on eliciting antibodies against the hemagglutinin stalk domain are in development. Typically, these vaccines induce responses that target group 1 or group 2 hemagglutinins with little to no cross-group reactivity and protection. Similarly, the majority of human anti-stalk monoclonal antibodies that have been isolated are directed against group 1 or group 2 hemagglutinins with very few that bind to hemagglutinins of both groups. Here we review what is known about the human humoral immune response to vaccination and infection with H7 subtype influenza viruses on a polyclonal and monoclonal level. It seems that unlike vaccination with H5 hemagglutinin, which induces antibody responses mostly restricted to the group 1 stalk domain, H7 exposure induces both group 2 and cross-group antibody responses. A better understanding of this phenomenon and the underlying mechanisms might help to develop future universal influenza virus vaccine candidates.

关键词： universal influenza virus vaccine     hemagglutinin stalk     H7N9    

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Compiling of comprehensive data of human infections with novel influenza A (H7N9) virus

null

《医学前沿（英文）》 2013年 第7卷 第3期   页码 275-276 doi: 10.1007/s11684-013-0285-z

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标题 作者 时间 类型 操作

Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in

期刊论文

Identification of variants associated with sporadic thoracic aortic dissection: a case--control study

期刊论文

A 7-year follow-up study of the features and transformations of elderly male patients with OGTT-1h hyperglycemia

TIAN Hui, LI Chunlin, ZHONG Wenwen, PAN Changyu, LU Juming, CAO Xiutang

期刊论文

Enhancement of open circuit voltage in organic solar cells by doping a fluorescent red dye

Qing LI, Junsheng YU, Yue ZANG, Nana WANG, Yadong JIANG

期刊论文

Resistance of large deformation of the Wushaoling Tunnel F7 soft fault

ZHAO Xufeng, CHEN Haiming, WANG Chunmiao

期刊论文

中国工程科学2005年第7卷总目次

null

期刊论文

Acid Orange 7 degradation using methane as the sole carbon source and electron donor

期刊论文

Time-dependent metabolomics uncover dynamic metabolic adaptions in MCF-7 cells exposed to bisphenol A

期刊论文

Nicotinic acetylcholine receptor α7 subunit: a novel therapeutic target for cardiovascular diseases

null

期刊论文

Research progress on human infection with avian influenza H7N9

Xiaoxin Wu, Lanlan Xiao, Lanjuan Li

期刊论文

A study on rapid acid chrome black (MB 7) spectrophotometric determination of ClO

Jing DONG, Huilong 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

Erratum to “After Highflyer Crashes, Airborne Wind Energy Regroups” [Engineering 7 (2021) 277–279]

Peter Weiss

期刊论文

Universal influenza virus vaccines: what can we learn from the human immune response following exposure to H7

null

期刊论文

Compiling of comprehensive data of human infections with novel influenza A (H7N9) virus

null

期刊论文