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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    

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    

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    

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    

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    

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    

Research and development of a novel subunit vaccine for the currently circulating pseudorabies virus variant

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    

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    

A Research Review on the Key Technologies of Intelligent Design for Customized Products

Shuyou Zhang, Jinghua Xu, Huawei Gou, Jianrong Tan

Engineering 2017, Volume 3, Issue 5,   Pages 631-640 doi: 10.1016/J.ENG.2017.04.005

Abstract: family design (PFD) for the customer base, configuration and modular design for customized products, variant

Keywords: Customized products     Customer requirements     Variant design     Intelligent design     Knowledge push    

Data recovery with sub-Nyquist sampling: fundamental limit and a detection algorithm

Xiqian Luo, Zhaoyang Zhang,ning_ming@zju.edu.cn

Frontiers of Information Technology & Electronic Engineering 2021, Volume 22, Issue 2,   Pages 141-286 doi: 10.1631/FITEE.1900320

Abstract: While the Nyquist rate serves as a lower bound to sample a general bandlimited signal with no information loss, the sub-Nyquist rate may also be sufficient for sampling and recovering signals under certain circumstances. Previous works on achieved dimensionality reduction mainly by transforming the signal in certain ways. However, the underlying structure of the sub-Nyquist sampled signal has not yet been fully exploited. In this paper, we study the fundamental limit and the method for recovering data from the sub-Nyquist sample sequence of a linearly modulated baseband signal. In this context, the signal is not eligible for dimension reduction, which makes the information loss in inevitable and turns the recovery into an . The performance limits and data recovery algorithms of two different schemes are studied. First, the minimum normalized Euclidean distances for the two sampling schemes are calculated which indicate the performance upper bounds of each sampling scheme. Then, with the constraint of a finite alphabet set of the transmitted symbols, a modified is presented for efficient data recovery from the sub-Nyquist samples. The simulated bit error rates (BERs) with different schemes are compared with both their theoretical limits and their Nyquist sampling counterparts, which validates the excellent performance of the proposed data recovery algorithm.

Keywords: sampling theorem     Sub-Nyquist sampling     Minimum Euclidean distance     Under-determined linear problem     Time-variant    

Genomic Epidemiology of ST34 Monophasic Salmonella enterica Serovar Typhimurium from Clinical Patients from 2008 to 2017 in Henan, China Article

Yujiao Mu, Ruichao Li, Pengcheng Du, Pei Zhang, Yan Li, Shenghui Cui, Séamus Fanning, Li Bai

Engineering 2022, Volume 15, Issue 8,   Pages 34-44 doi: 10.1016/j.eng.2022.05.006

Abstract: justify;">Salmonella enterica serovar 4,[5],12:i:- (S. 4,[5],12:i:-) is a monophasic variant

Keywords: Salmonella Typhimurium monophasic variant     ST34     Prevalence     Phylogenetic analysis     Chinese lineages    

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

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

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

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

Research and development of a novel subunit vaccine for the currently circulating pseudorabies virus variant

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

Journal Article

Genome-wide association studies: inherent limitations and future challenges

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

Journal Article

A Research Review on the Key Technologies of Intelligent Design for Customized Products

Shuyou Zhang, Jinghua Xu, Huawei Gou, Jianrong Tan

Journal Article

Data recovery with sub-Nyquist sampling: fundamental limit and a detection algorithm

Xiqian Luo, Zhaoyang Zhang,ning_ming@zju.edu.cn

Journal Article

Genomic Epidemiology of ST34 Monophasic Salmonella enterica Serovar Typhimurium from Clinical Patients from 2008 to 2017 in Henan, China

Yujiao Mu, Ruichao Li, Pengcheng Du, Pei Zhang, Yan Li, Shenghui Cui, Séamus Fanning, Li Bai

Journal Article