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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: Clouston syndrome (OMIM #129500), also known as hidrotic ectodermal dysplasia type 2, is a rare autosomal dominant skin disorder. To date, four mutations in the GJB6 gene, G11R, V37E, A88V, and D50N, have been confirmed to cause this condition. In previous studies, the focus has been mainly on gene sequencing, and there has been a lack of research on clinical manifestations and pathogenesis. To confirm the diagnosis of this pedigree at the molecular level and summarize and analyse the clinical phenotype of patients and to provide a basis for further study of the pathogenesis of the disease, we performed whole-exome and Sanger sequencing on a large Chinese Clouston syndrome pedigree. Detailed clinical examination included histopathology, hair microscopy, and scanning electron microscopy. We found a novel heterozygous missense variant (c.134G>C:p.G45A) for Clouston syndrome. We identified a new clinical phenotype involving all nail needling pain in all patients and found a special honeycomb hole structure in the patients’ hair under scanning electron microscopy. Our data reveal that a novel variant (c.134G>C:p.G45A) plays a likely pathogenic role in this pedigree and highlight that genetic testing is necessary for the diagnosis of Clouston syndrome.

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

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China must have its own unique sustainable energy system

Weidou NI , Shilie WENG ,

Frontiers in Energy 2009, Volume 3, Issue 1, Pages 1-1 doi: 10.1007/s11708-009-0300-x

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Avoiding the innovation island in infrastructure mega-project

Hongquan CHEN, Quanke SU, Saixing ZENG, Daxin SUN, Jonathan Jingsheng SHI

Frontiers of Engineering Management 2018, Volume 5, Issue 1, Pages 109-124 doi: 10.15302/J-FEM-2018073

Abstract: Infrastructure mega-project (IMP) innovation is a complex process characterized by highly diverse innovators, a dynamic life-cycle, and stickiness of innovation knowledge. The IMP’s innovation network can be easily broken due to the fact that the network involves many different innovators across different industries and different projects. Further reasons for the fragility of the IMP’s innovation network are the dynamics of the IMP life-cycle, the diversity of the IMP’s innovative entities, the uniqueness of each IMP, and the temporary nature of each IMP’s organizations. The formed by the breaking of an IMP’s innovation network can stifle and harm innovation performance. Drawing from the knowledge-based view as well as innovation network theory, our research identifies the heterogeneous characte- ristics of IMP innovation. We propose a framework to analyze the formation mechanism of the IMP innovation island from three dimensions—the , the , and the . We look at the Hong Kong-Zhuhai-Macao Bridge project to elaborate the innovation island concept that negatively impacts IMP innovation. We also offer theoretical implications regarding the broader question of how IMPs can manage their innovation in practice.

Keywords： innovation in mega-infrastructure projects the diversity of innovation bodies life-cycle dynamics the unique

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of Newly Emerging Coronavirus HCoV-19 Spike Protein and Human ACE2 Reveals Camouflaging Glycans and Unique Article

Zeyu Sun, Keyi Ren, Xing Zhang, Jinghua Chen, Zhengyi Jiang, Jing Jiang, Feiyang Ji, Xiaoxi Ouyang, Lanjuan Li

Engineering 2021, Volume 7, Issue 10, Pages 1441-1451 doi: 10.1016/j.eng.2020.07.014

Abstract:

The coronavirus disease 2019 (COVID-19) pandemic has led to worldwide efforts to understand the biological traits of the newly identified human coronavirus (HCoV-19) virus. In this mass spectrometry (MS)-based study, we reveal that out of 21 possible glycosites in the HCoV-19 spike protein (S protein), 20 are completely occupied by N-glycans, predominantly of the oligomannose type. All seven glycosylation sites in human angiotensin I converting enzyme 2 (hACE2) were found to be completely occupied, mainly by complex N-glycans. However, glycosylation did not directly contribute to the binding affinity between HCoV-19 S protein and hACE2. Additional post-translational modification (PTM) was identified, including multiple methylated sites in both proteins and multiple sites with hydroxylproline in hACE2. Refined structural models of HCoV-19 S protein and hACE2 were built by adding N-glycan and PTMs to recently published cryogenic electron microscopy structures. The PTM and glycan maps of HCoV-19 S protein and hACE2 provide additional structural details for studying the mechanisms underlying host attachment and the immune response of HCoV-19, as well as knowledge for developing desperately needed remedies and vaccines.

Keywords： N-glycosylation COVID-19 Spike protein hACE2 Structure