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期刊论文 45

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Genetic evidence in planar cell polarity signaling pathway in human neural tube defects

null

《医学前沿（英文）》 2014年 第8卷 第1期   页码 68-78 doi: 10.1007/s11684-014-0308-4

摘要：

Neural tube defects (NTDs) are a group of birth anomalies having a profound physical, emotional, and financial effects on families and communities. Their etiology is complex, involving environmental and genetic factors that interact to modulate the incidence and severity of the developing phenotype. The planar cell polarity (PCP) pathway controls the process of convergent extension (CE) during gastrulation and neural tube closure and has been implicated in the pathogenesis of NTDs in animal models and human cohorts. This review summarizes the cumulative results of recent studies on PCP signaling pathway and human NTDs. These results demonstrate that PCP gene alterations contribute to the etiology of human NTDs.

关键词： planar cell polarity     neural tube defects     rare mutations    

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Identification of novel mutations in and in a family with craniofacial microsomia: evidence of digenic

《医学前沿（英文）》   页码 1006-1009 doi: 10.1007/s11684-023-1000-3

摘要： Identification of novel mutations in and in a family with craniofacial microsomia: evidence of digenic inheritance

关键词： family craniofacial microsomia     Identification novel mutations    

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Treatment of advanced non-small cell lung cancer with driver mutations: current applications and future

《医学前沿（英文）》 2023年 第17卷 第1期   页码 18-42 doi: 10.1007/s11684-022-0976-4

摘要： With the improved understanding of driver mutations in non-small cell lung cancer (NSCLC), expanding the targeted therapeutic options improved the survival and safety. However, responses to these agents are commonly temporary and incomplete. Moreover, even patients with the same oncogenic driver gene can respond diversely to the same agent. Furthermore, the therapeutic role of immune-checkpoint inhibitors (ICIs) in oncogene-driven NSCLC remains unclear. Therefore, this review aimed to classify the management of NSCLC with driver mutations based on the gene subtype, concomitant mutation, and dynamic alternation. Then, we provide an overview of the resistant mechanism of target therapy occurring in targeted alternations (“target-dependent resistance”) and in the parallel and downstream pathways (“target-independent resistance”). Thirdly, we discuss the effectiveness of ICIs for NSCLC with driver mutations and the combined therapeutic approaches that might reverse the immunosuppressive tumor immune microenvironment. Finally, we listed the emerging treatment strategies for the new oncogenic alternations, and proposed the perspective of NSCLC with driver mutations. This review will guide clinicians to design tailored treatments for NSCLC with driver mutations.

关键词： non-small cell lung cancer     driver mutations     treatment strategy     resistant mechanism     immune-checkpoint inhibitors    

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Characteristics of compensatory mutations in the

Shengfen Wang, Yang Zhou, Bing Zhao, Xichao Ou, Hui Xia, Yang Zheng, Yuanyuan Song, Qian Cheng, Xinyang Wang, Yanlin Zhao

《医学前沿（英文）》 2020年 第14卷 第1期   页码 51-59 doi: 10.1007/s11684-019-0720-x

摘要： The aim of this study was to characterize gene mutations in (MTB) and investigate the factors associated with mutations and the relation between mutations and tuberculosis (TB) transmission. A total of 245 MTB clinical isolates from patients with TB in six provinces and two municipalities in China were characterized based on gene mutations through DNA sequencing of and genes, phenotyping via standard drug susceptibility testing, and genotypic profiling by mycobacterial interspersed repetitive unit-variable number tandem repeat (MIRU-VNTR) typing. Approximately 36.4% of the rifampin-resistant isolates harbored nonsynonymous mutations in the gene. Twenty-nine nonsynonymous single mutations and three double mutations were identified. The mutations at locus 483 (11.3%) were predominant, and the mutations at V483G, W484G, I491V, L516P, L566R, N698K, and A788E accounted for 54.5% of the total detected mutations. Fifteen new mutations in the gene were identified. Rifampin resistance and mutations at locus 531 were significantly associated with mutations. MIRU-VNTR genotype results indicated that 18.4% of the studied isolates were clustered, and the mutations were not significantly associated with MIRU-VNTR clusters. A large proportion of mutation was observed in the rifampicin-resistant MTB isolates. However, the findings of this study do not support the association of mutation with compensated transmissibility.

关键词： tuberculosis     drug resistance     compensatory mutations     transmission    

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Distinct community assembly processes underlie significant spatiotemporal dynamics of abundant and rare

《环境科学与工程前沿（英文）》 2022年 第16卷 第6期 doi: 10.1007/s11783-021-1513-4

摘要：

• Season and landform influenced spatiotemporal patterns of abundant and rare taxa.

关键词： Rare taxa     Biogeography     Community assembly     Bacterioplankton     The Yangtze River    

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122-binding site polymorphism at the interleukin-1 α gene and its interaction with hepatitis B virus mutations

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《医学前沿（英文）》 2014年 第8卷 第2期   页码 217-226 doi: 10.1007/s11684-014-0326-2

摘要：

This study was designed to investigate the contribution of miRNA-122-binding site polymorphism at the IL-1A gene and its multiplicative interactions with hepatitis B virus (HBV) mutations in the risk of hepatocellular carcinoma (HCC). A total of 1021 healthy controls, 302 HBV surface antigen (HBsAg) seroclearance subjects, and 2011 HBsAg-positive subjects (including 1021 HCC patients) were enrolled in this study. Quantitative PCR was used to genotype rs3783553. HBV mutations were determined by direct sequencing. Multivariate logistic regression analyses were performed to test the associations of rs3783553, mutations, and their interactions with the risk of HCC. No significant association was found between rs3783553 and the risk of HCC among healthy controls, HBsAg seroclearance subjects, HBsAg-positive subjects without HCC, and all controls. Additionally, rs3783553 was not significantly associated with chronic HBV infection, liver cirrhosis, HBV e antigen seroconversion, abnormal alanine aminotransferase, and high viral load (>104 copies/ml). However, the TTCA insertion allele of rs3783553 was significantly associated with an increased frequency of HBV C7A mutation compared with homozygous TTCA deletion carriers [(del/ins+ ins/ins) vs. del/del, adjusted odds ratio (OR)=1.48, 95% confidence interval (CI)=1.09-2.02, P=0.013]. Multiplicative interaction of rs3783553 with HBV preS deletion significantly reduced the risk of HCC in males, with an adjusted OR of 0.64 (95% CI=0.42-0.98; P=0.041) after age and HBV genotype were adjusted. Although rs3783553 did not significantly affect genetic susceptibility to HBV-related HCC, its variant allele may predispose the host to selecting HBV C7A mutation during evolution and significantly reduce the risk of HCC caused by HBV preS deletion. This study provides an insight into the complex host-virus interaction in HBV-induced hepatocarcinogenesis and is helpful in determining HBsAg-positive subjects who are likely to develop HCC.

关键词： hepatocellular carcinoma (HCC)     interaction     miRNA-122-binding site     IL-1A     rs3783553     hepatitis B virus (HBV) mutations    

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Recovery of rare and precious metals from urban mines—A review

Mengmeng Wang, Quanyin Tan, Joseph F. Chiang, Jinhui Li

《环境科学与工程前沿（英文）》 2017年 第11卷 第5期 doi: 10.1007/s11783-017-0963-1

摘要： Urban mining is essential for continued natural resource extraction. The recovery of rare and precious metals (RPMs) from urban mines has attracted increasing attention from both academic and industrial sectors, because of the broad application and high price of RPMs, and their low content in natural ores. This study summarizes the distribution characteristics of various RPMs in urban mines, and the advantages and shortcomings of various technologies for RPM recovery from urban mines, including both conventional (pyrometallurgical, hydrometallurgical, and biometallurgical processing), and emerging (electrochemical, supercritical fluid, mechanochemical, and ionic liquids processing) technologies. Mechanical/physical technologies are commonly employed to separate RPMs from nonmetallic components in a pre-treatment process. A pyrometallurgical process is often used for RPM recovery, although the expensive equipment required has limited its use in small and medium-sized enterprises. Hydrometallurgical processing is effective and easy to operate, with high selectivity of target metals and high recovery efficiency of RPMs, compared to pyrometallurgy. Biometallurgy, though, has shown the most promise for leaching RPMs from urban mines, because of its low cost and environmental friendliness. Newly developed technologies—electrochemical, supercritical fluid, ionic liquid, and mechanochemical—have offered new choices and achieved some success in laboratory experiments, especially as efficient and environmentally friendly methods of recycling RPMs. With continuing advances in science and technology, more technologies will no doubt be developed in this field, and be able to contribute to the sustainability of RPM mining.

关键词： Rare and precious metals (RPMs)     Distribution characteristics     Recycling technology     Emerging technology     Supercritical fluid    

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我国“三稀矿产”的资源特征及开发利用研究

王登红,孙艳,代鸿章,郭唯明,赵芝,赵汀,李建康,王成辉,黄凡,于扬,李德先

《中国工程科学》 2019年 第21卷 第1期   页码 119-127 doi: 10.15302/J-SSCAE-2019.01.017

摘要：

我国“三稀矿产”总体上资源丰富，既是资源大国，也是主要生产国和出口国，但往往因为深加工技术落后、环境代价太大、战略意识不强等原因而始终拿不到市场的话语权。中国已经进入科技创新引领社会发展的关键时期，“三稀矿产”恰恰具有无限的创新潜力。本文通过梳理2011年以来全国“三稀矿产”资源调查和找矿过程中积累的资料，概略性地总结了我国稀有、稀土和稀散元素矿产的主要特点，提出了一些开发利用建议，进一步强调“稀土不土，稀有常有，稀散不散”的禀赋特征，提出了开发利用过程中“稀土管得着，稀有找得到，稀散用得好”的基本思路。

关键词： 三稀矿产     资源特征     开发利用    

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Migration of ammonium nitrogen in ion-absorbed rare earth soils during and post mining: a column study

《环境科学与工程前沿（英文）》 2023年 第17卷 第8期 doi: 10.1007/s11783-023-1702-4

摘要：

● Column experiments with an inclined slope were applied to simulate NH4–N transport.

关键词： Ion-absorbed rare earth     Ammonium nitrogen transport     HYDRUS-2D     Numerical simulation    

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Rare tumors: a blue ocean of investigation

《医学前沿（英文）》 2023年 第17卷 第2期   页码 220-230 doi: 10.1007/s11684-023-0984-z

摘要： Advances in novel drugs, therapies, and genetic techniques have revolutionized the diagnosis and treatment of cancers, substantially improving cancer patients’ prognosis. Although rare tumors account for a non-negligible number, the practice of precision medicine and development of novel therapies are largely hampered by many obstacles. Their low incidence and drastic regional disparities result in the difficulty of informative evidence-based diagnosis and subtyping. Sample exhaustion due to difficulty in diagnosis also leads to a lack of recommended therapeutic strategies in clinical guidelines, insufficient biomarkers for prognosis/efficacy, and inability to identify potential novel therapies in clinical trials. Herein, by reviewing the epidemiological data of Chinese solid tumors and publications defining rare tumors in other areas, we proposed a definition of rare tumor in China, including 515 tumor types with incidences of less than 2.5/100 000 per year. We also summarized the current diagnosis process, treatment recommendations, and global developmental progress of targeted drugs and immunotherapy agents on the status quo. Lastly, we pinpointed the current recommendation chance for patients with rare tumors to be involved in a clinical trial by NCCN. With this informative report, we aimed to raise awareness on the importance of rare tumor investigations and guarantee a bright future for rare tumor patients.

关键词： rare tumors     diagnosis flowchart     treatment strategy     clinical trials recommendation    

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Arsenic trioxide induced rhabdomyolysis, a rare but severe side effect, in an APL patient: a case report

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《医学前沿（英文）》 2017年 第11卷 第2期   页码 284-286 doi: 10.1007/s11684-017-0514-y

摘要：

Arsenic trioxide (ATO), a component of the traditional Chinese medicine arsenic sublimate, promotes apoptosis and induces leukemic cell differentiation. Combined with all-trans-retinotic acid (ATRA), ATO has become the first-line induction therapy in treating acute promyelocytic leukemia (APL). The most common side effects of ATO include hepatotoxicity, gastrointestinal symptoms, water-sodium retention, and nervous system damage. In this report, we present a rare side effect, rhabdomyolysis, in a 68-year-old female APL patient who was treated with ATO. After taking 10 mg ATO daily for 6 days, she presented shortness of breath, myodynia, elevated creatine kinase, and acute renal insufficiency. This report describes the first case of ATO-induced rhabdomyolysis.

关键词： arsenic trioxide     APL     rhabdomyolysis    

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Distinct gene expression pattern of mutations coordinated by target repression and promoter hypermethylation

《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

摘要： 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.

关键词： RUNX1     gene mutation     acute myeloid leukemia     transcriptional repression     DNA methylation    

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Rare-earth separation based on the differences of ionic magnetic moment via quasi-liquid strategy

《化学科学与工程前沿（英文）》 2023年 第17卷 第10期   页码 1584-1594 doi: 10.1007/s11705-022-2189-4

摘要： The separation of rare earth elements is particularly difficult due to their similar physicochemical properties. Based on the tiny differences of ionic radius, solvent extraction has been developed as the “mass method” in industry with hundreds of stages, extremely intensive chemical consumption and large capital investments. The differences of the ionic magnetic moment among rare earths are greater than that of ionic radius. Herein, a novel method based on the large ionic magnetic moment differences of rare earth elements was proposed to promote the separation efficiency. Rare earths were firstly dissolved in the ionic liquid, then the ordering degree of them was improved with the Z-bond effect, and finally the magnetic moment differences between paramagnetic and diamagnetic rare earths in quasi-liquid system were enhanced. Taking the separation of Er/Y, Ho/Y and Er/Ho as examples, the results showed that Er(III) and Ho(III) containing ionic liquids had obvious magnetic response, while ionic liquids containing Y(III) had no response. The separation factors of Er/Y and Ho/Y were achieved at 9.0 and 28.82, respectively. Magnetic separation via quasi-liquid system strategy provides a possibility of the novel, green, and efficient method for rare earth separation.

关键词： rare earth element     different magnetic moment     magnetic separation     ionic liquid    

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Assessment of leaching behavior and human bioaccessibility of rare earth elements in typical hospital

Chunfeng Wang, Guanfei Chen, Yanchen Zhu, Dan Yao, Wanfeng Wang, Lianjun Wang

《环境科学与工程前沿（英文）》 2017年 第11卷 第6期 doi: 10.1007/s11783-017-0946-2

摘要： Leaching behavior and gastrointestinal bioaccessibility of rare earth elements (REEs) from hospital waste incineration (HWI) fly and bottom ash samples collected from Beijing and Nanjing Cities were assessed. In the same ash sample, the leaching concentrations of individual REEs determined by the Toxicity Characteristic Leaching Procedure (TCLP) were higher than those detected by the European standard protocol (EN-type test), thereby suggesting that the low pH value of leaching solution was an important factor influencing the leachability of REE. The REE bioaccessibility results, which were evaluated using the physiologically based extraction test (PBET), indicated that REEs were highly absorbed during gastric phase by dissolution; and subsequently precipitated and/or re-adsorbed in small intestinal phase. The relative amounts of the total REEs extracted by the TCLP method, EN-type test and PBET test were compared. In addition to the pH value of extraction solutions, the chelating role of REEs with organic ligands used in the PBET method was also an important parameter affecting REE adsorption in human body. Additionally, this study showed that REEs were extracted by these methods as concomitants of heavy metals and anions (NO , F , SO , and Cl ) from HWI ash, which probably caused the remarkably complex toxicity on human body by the exposure pathway.

关键词： Assessment     Rare earth elements     Leaching behavior     Bioaccessibility     Hospital waste    

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Preparation of rare-earth metal complex oxide catalysts for catalytic wet air oxidation

LI Ning, LI Guangming, YAO Zhenya, ZHAO Jianfu

《环境科学与工程前沿（英文）》 2007年 第1卷 第2期   页码 190-195 doi: 10.1007/s11783-007-0033-1

摘要： Catalytic wet air oxidation (CWAO) is one of the most promising technologies for pollution abatement. Developing catalysts with high activity and stability is crucial for the application of the CWAO process. The Mn/Ce complex oxide catalysts for CWAO of high concentration phenolcontaining wastewater were prepared by coprecipitation. The catalyst preparation conditions were optimized by using an orthogonal layout method and single-factor experimental analysis. The Mn/Ce serial catalysts were characterized by Brunauer Emmett Teller (BET) analysis and the metal cation leaching was measured by inductively coupled plasma torch-atomic emission spectrometry (ICP-AES). The results show that the catalysts have high catalytic activities even at a low temperature (80?C) and low oxygen partial pressure (0.5 MPa) in a batch reactor. The metallic ion leaching is comparatively low (Mn<6.577 mg/L and Ce<0.6910 mg/L, respectively) in the CWAO process. The phenol, COD, and TOC removal efficiencies in the solution exceed 98.5% using the optimal catalyst (named CSP). The new catalyst would have a promising application in CWAO treatment of high concentration organic wastewater.

关键词： torch-atomic emission     Brunauer     Catalytic     process     stability    

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标题 作者 时间 类型 操作

Genetic evidence in planar cell polarity signaling pathway in human neural tube defects

null

期刊论文

Identification of novel mutations in and in a family with craniofacial microsomia: evidence of digenic

期刊论文

Treatment of advanced non-small cell lung cancer with driver mutations: current applications and future

期刊论文

Characteristics of compensatory mutations in the

Shengfen Wang, Yang Zhou, Bing Zhao, Xichao Ou, Hui Xia, Yang Zheng, Yuanyuan Song, Qian Cheng, Xinyang Wang, Yanlin Zhao

期刊论文

Distinct community assembly processes underlie significant spatiotemporal dynamics of abundant and rare

期刊论文

122-binding site polymorphism at the interleukin-1 α gene and its interaction with hepatitis B virus mutations

null

期刊论文

Recovery of rare and precious metals from urban mines—A review

Mengmeng Wang, Quanyin Tan, Joseph F. Chiang, Jinhui Li

期刊论文

我国“三稀矿产”的资源特征及开发利用研究

王登红,孙艳,代鸿章,郭唯明,赵芝,赵汀,李建康,王成辉,黄凡,于扬,李德先

期刊论文

Migration of ammonium nitrogen in ion-absorbed rare earth soils during and post mining: a column study

期刊论文

Rare tumors: a blue ocean of investigation

期刊论文

Arsenic trioxide induced rhabdomyolysis, a rare but severe side effect, in an APL patient: a case report

null

期刊论文

Distinct gene expression pattern of mutations coordinated by target repression and promoter hypermethylation

期刊论文

Rare-earth separation based on the differences of ionic magnetic moment via quasi-liquid strategy

期刊论文

Assessment of leaching behavior and human bioaccessibility of rare earth elements in typical hospital

Chunfeng Wang, Guanfei Chen, Yanchen Zhu, Dan Yao, Wanfeng Wang, Lianjun Wang

期刊论文

Preparation of rare-earth metal complex oxide catalysts for catalytic wet air oxidation

LI Ning, LI Guangming, YAO Zhenya, ZHAO Jianfu

期刊论文