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A novel variant in the gene in a large Chinese family with a unique phenotype of Clouston syndrome

Frontiers of Medicine 2023, Volume 17, Issue 2,   Pages 330-338 doi: 10.1007/s11684-022-0933-2

Abstract: We found a novel heterozygous missense variant (c.134G>C:p.G45A) for Clouston syndrome.Our data reveal that a novel variant (c.134G>C:p.G45A) plays a likely pathogenic role in this pedigree

Keywords： Clouston syndrome     whole exome sequencing     GJB6 gene     novel variant     unique phenotype    

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Research and development of a novel subunit vaccine for the currently circulating pseudorabies virusvariant in China

Yuzhou WANG,Tongyan WANG,He YAN,Fanli YANG,Linghua GUO,Qingyuan YANG,Xule HU,Feifei TAN,Yan XIAO,Xiangdong LI,Kegong TIAN

Frontiers of Agricultural Science and Engineering 2015, Volume 2, Issue 3,   Pages 216-222 doi: 10.15302/J-FASE-2015072

Abstract: Hence, this novel gB-based vaccine could be applied as an effective subunit vaccine to control PRV variant

Keywords： pseudorabies virus     glycoprotein B protein     subunit vaccine    

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

Frontiers of Medicine 2022, Volume 16, Issue 5,   Pages 808-814 doi: 10.1007/s11684-021-0878-x

Abstract: 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 novelNotably, this study identified a nonsense variant in LAMA3 that causes EB within the Chinese populationand revealed that this variant resulted in a reduction in LAMA3 mRNA and protein expression levels

Keywords： epidermolysis bullosa     LAMA3     COL7A1     KRT5     Chinese families    

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Potential unreliability of ALK variant allele frequency in the efficacy prediction of targeted therapy

Frontiers of Medicine 2023, Volume 17, Issue 3,   Pages 493-502 doi: 10.1007/s11684-022-0946-x

Abstract: In this work, we investigated whether the variant allele frequencies (VAFs) of ALK fusions can

Keywords： fusion     next-generation sequencing     fluorescence in situ hybridization     immunohistochemistry     variant    

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Effectiveness of inactivated COVID-19 vaccine against the severity of Omicron variant

Frontiers of Medicine 2023, Volume 17, Issue 3,   Pages 576-580 doi: 10.1007/s11684-023-0991-0

Abstract: Effectiveness of inactivated COVID-19 vaccine against the severity of Omicron variant

Keywords： variant    

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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: protein C activity resulting from a small insertion mutation c.848_849insGATGT in and a short deletion variant

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

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Exergy and exergoeconomic analyses for integration of aromatics separation with aromatics upgrading

Frontiers of Chemical Science and Engineering 2023, Volume 17, Issue 2,   Pages 183-193 doi: 10.1007/s11705-022-2192-9

Abstract: Methanol to aromatics produces multiple products, resulting in a limited selectivity of xylene. Aromatics upgrading is an effective way to produce more valuable xylene product, and different feed ratios generate discrepant product distributions. This work integrates the aromatics separation with toluene disproportionation, transalkylation of toluene and trimethylbenzene, and isomerization of xylene and trimethylbenzene. Exergy and exergoeconomic analyses are conducted to give insights in the splitting ratios of benzene, toluene and heavy aromatics for aromatics upgrading. First, a detailed simulation model is developed in Aspen HYSYS. Then, 300 splitting ratio sets of benzene and toluene for conversion are studied to investigate the process performances. The results indicate that there are different preferences for the splitting ratios of benzene and toluene in terms of exergy and exergoeconomic performances. The process generates lower total exergy destruction when the splitting ratio of toluene varies between 0.07 and 0.18, and that of benzene fluctuates between 0.55 and 0.6. Nevertheless, the process presents lower total product unit cost with the splitting ratio of toluene less than 0.18 and that of benzene fluctuating between 0.44 and 0.89. Besides, it is found that distillation is the biggest contributor to the total exergy destruction, accounting for 94.97%.

Keywords： aromatics separation and upgrading     variant splitting ratios     total exergy destruction     total product    

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Genome-wide association studies: inherent limitations and future challenges

Yan Du, Jiaxin Xie, Wenjun Chang, Yifang Han, Guangwen Cao

Frontiers of Medicine 2012, Volume 6, Issue 4,   Pages 444-450 doi: 10.1007/s11684-012-0225-3

Abstract:

Genome-wide association studies (GWAS) have achieved great success in identifying genetic variants related to complex human diseases such as cancer and have provided valuable insights into their genetic architecture. Recently, GWAS is quite the fashion in China. However, there are issues related to its nature. Enormous work needs to be done in the post-GWAS era. Deep sequencing followed by functional studies will be needed to elucidate the underpinning biological mechanisms and further translate GWAS findings into medical practice. Along with pharmacogenomics, the success of GWAS in identifying genetic risk factors and genetic differences in drug response has been gradually enabling personalized medicine. In this article, we used hepatocellular carcinoma (HCC) as an example to demonstrate some of the inherent limitations and summarized future challenges of GWAS.

Keywords： genome-wide association studies (GWAS)     genetic variant     cancer     limitation     challenge    

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

Frontiers of Medicine   Pages 1006-1009 doi: 10.1007/s11684-023-1000-3

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

Keywords： family craniofacial microsomia     Identification novel mutations    

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A novel ensemble model for predicting the performance of a novel vertical slot fishway

Aydin SHISHEGARAN, Mohammad SHOKROLLAHI, Ali MIRNOROLLAHI, Arshia SHISHEGARAN, Mohammadreza MOHAMMAD KHANI

Frontiers of Structural and Civil Engineering 2020, Volume 14, Issue 6,   Pages 1418-1444 doi: 10.1007/s11709-020-0664-x

Abstract: We investigate the performance of a novel vertical slot fishway by employing finite volume and surrogate

Keywords： novel vertical slot fishway     parametric study     finite volume method     ensemble model     gene expression programming    

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Mechanical design, modeling, and identification for a novel antagonistic variable stiffness dexterous

Frontiers of Mechanical Engineering 2022, Volume 17, Issue 3, doi: 10.1007/s11465-022-0691-5

Abstract: This study traces the development of dexterous hand research and proposes a novel antagonistic variable

Keywords： multifingered hand     mechanism design     robot safety     variable stiffness actuator    

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2019 novel coronavirus outbreak: a quiz or final exam?

Jiuyang Xu, Yijun Chen, Hao Chen, Bin Cao

Frontiers of Medicine 2020, Volume 14, Issue 2,   Pages 225-228 doi: 10.1007/s11684-020-0753-1

Abstract: The 2019 novel coronavirus (2019-nCoV) is an emerging pathogen and is threatening the global health.

Keywords： 2019-nCoV     novel coronavirus     epidemic     public response    

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Development of a novel hand−eye calibration for intuitive control of minimally invasive surgical robot

Frontiers of Mechanical Engineering 2022, Volume 17, Issue 3, doi: 10.1007/s11465-022-0698-y

Abstract: We proposed a novel two-step modified dual quaternion for hand−eye calibration in this study.

Keywords： minimally invasive surgery     hand−eye calibration     intuitive control     surgical robot     dual quaternion    

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Design and experiment of a novel pneumatic soft arm based on a deployable origami exoskeleton

Frontiers of Mechanical Engineering 2023, Volume 18, Issue 4, doi: 10.1007/s11465-023-0770-2

Abstract: In this research, a novel soft arm was developed by coupling a rigid origami exoskeleton with soft airbags

Keywords： pneumatic soft arm     soft airbag     deployable origami exoskeleton     bistable characteristics     cargo-loading capacity    

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Serum mitochondrial tsRNA serves as a novel biomarker for hepatocarcinoma diagnosis

Frontiers of Medicine 2022, Volume 16, Issue 2,   Pages 216-226 doi: 10.1007/s11684-022-0920-7

Abstract: In summary, our study demonstrated that serum tsRNA signature may serve as a novel biomarker of HCC.

Keywords： tsRNA     biomarker     hepatocarcinoma    

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Title Author Date Type Operation

A novel variant in the gene in a large Chinese family with a unique phenotype of Clouston syndrome

Journal Article

Research and development of a novel subunit vaccine for the currently circulating pseudorabies virusvariant in China

Yuzhou WANG,Tongyan WANG,He YAN,Fanli YANG,Linghua GUO,Qingyuan YANG,Xule HU,Feifei TAN,Yan XIAO,Xiangdong LI,Kegong TIAN

Journal Article

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

Journal Article

Potential unreliability of ALK variant allele frequency in the efficacy prediction of targeted therapy

Journal Article

Effectiveness of inactivated COVID-19 vaccine against the severity of Omicron variant

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

Exergy and exergoeconomic analyses for integration of aromatics separation with aromatics upgrading

Journal Article

Genome-wide association studies: inherent limitations and future challenges

Yan Du, Jiaxin Xie, Wenjun Chang, Yifang Han, Guangwen Cao

Journal Article

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

Journal Article

A novel ensemble model for predicting the performance of a novel vertical slot fishway

Aydin SHISHEGARAN, Mohammad SHOKROLLAHI, Ali MIRNOROLLAHI, Arshia SHISHEGARAN, Mohammadreza MOHAMMAD KHANI

Journal Article

Mechanical design, modeling, and identification for a novel antagonistic variable stiffness dexterous

Journal Article

2019 novel coronavirus outbreak: a quiz or final exam?

Jiuyang Xu, Yijun Chen, Hao Chen, Bin Cao

Journal Article

Development of a novel hand−eye calibration for intuitive control of minimally invasive surgical robot

Journal Article

Design and experiment of a novel pneumatic soft arm based on a deployable origami exoskeleton

Journal Article

Serum mitochondrial tsRNA serves as a novel biomarker for hepatocarcinoma diagnosis

Journal Article