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Cardiac arrhythmia is currently considered to be the direct cause of death in a majority of sudden unexplained death (SUD) cases, yet the genetic predisposition and corresponding endophenotypes contributing to SUD remain incompletely understood. In this study, we aimed to investigate the involvement of Coenzyme Q (CoQ) deficiency in SUD. First, we re-analyzed the exome sequencing data of 45 SUD and 151 sudden infant death syndrome (SIDS) cases from our previous studies, focusing on previously overlooked genetic variants in 44 human CoQ deficiency-related genes. A considerable proportion of the SUD (38%) and SIDS (37%) cases were found to harbor rare variants with likely functional effects. Subsequent burden testing, including all rare exonic and untranslated region variants identified in our case cohorts, further confirmed the existence of significant genetic burden. Based on the genetic findings, the influence of CoQ deficiency on electrophysiological and morphological properties was further examined in a mouse model. A significantly prolonged PR interval and an increased occurrence of atrioventricular block were observed in the 4-nitrobenzoate induced CoQ deficiency mouse group, suggesting that CoQ deficiency may predispose individuals to sudden death through an increased risk of cardiac arrhythmia. Overall, our findings suggest that CoQ deficiency-related genes should also be considered in the molecular autopsy of SUD.

The transcription factor BTB and CNC homology 1(BACH1) has been linked to coronary artery disease risk by human genome-wide association studies, but little is known about the role of BACH1 in vascular smooth muscle cell (VSMC) phenotype switching and neointima formation following vascular injury. Therefore, this study aims to explore the role of BACH1 in vascular remodeling and its underlying mechanisms. BACH1 was highly expressed in human atherosclerotic plaques and has high transcriptional factor activity in VSMCs of human atherosclerotic arteries. VSMC-specific loss of Bach1 in mice inhibited the transformation of VSMC from contractile to synthetic phenotype and VSMC proliferation and attenuated the neointimal hyperplasia induced by wire injury. Mechanistically, BACH1 suppressed chromatin accessibility at the promoters of VSMC marker genes via recruiting histone methyltransferase G9a and cofactor YAP and maintaining the H3K9me2 state, thereby repressing VSMC marker genes expression in human aortic smooth muscle cells (HASMCs). BACH1-induced repression of VSMC marker genes was abolished by the silencing of G9a or YAP. Thus, these findings demonstrate a crucial regulatory role of BACH1 in VSMC phenotypic transition and vascular homeostasis and shed light on potential future protective vascular disease intervention via manipulation of BACH1.

Finally, the research sketches in more details about Lin Lingsu's background before he set his foot in Beijing; moreover, with referring to a few of compiled works of Taoist rituals, the text gives a terse but adequate description of his reformation of Taoist ritual contents. In conclusion, this thesis probes further into his status among Taoist rituals, and states that the Shenxiao Sect ritual has made a real impact on Lingbao Donghua Sect, which is closely linked with Lin Lingsu's birthplace, Wenzhou., On the basis of consulting the related academic results and methodologies achieved by Chinese and foreign scholars, the text widely garners materials of all kinds, which include Taoist literature, history records, anthology, notes, and local history as sources in addition to the three most basic and widely-circulated versions of Lin Lingsu's biography., The research provides several insights into some of the issues that remain debatable to this day. To start with, it reveals that back in early Northern Song Dynasty in Sichuan area there prevailed a Thunder-God register, an affiliate of Celestial Masters' talismans and registers. Also in the discovery is that in anthologies and notes, composed in the same period, in the coastal region to the south of the Yangzi River there existed the depiction of Thunder Troop which was mentioned in the Taoist Canon. All these records show that Thunder Rites not only is the outcome of a distinctive, thunder-roaring climate in the southeast coast of China, but it is also characterized as being intricate, and most importantly it has long been filed in the officially-compiled Taoist Canon., Then, the research gives a specific and clearer outline of Shenxiao Movement. In the external aspect, it has done an even more comprehensive investigation from different angles: the symbolic meaning that the establishment of Shenxiao Temples represents, the scale and geographical distribution. Internally, the text points out that the Shenxiao teachings has an almost inseparable connection with the Taoism's three traditions, Shangqing, Lingbao and Celestial Masters, in terms of personages, scriptures and rituals etc. What's more important is that Shenxiao teachings, intrinsically, has its ordination practice, scripture and ritual, which greatly qualify the sect as a denomination of the Taoist faith., This thesis is a case study of Lin Lingsu (1076-1120), a Wenzhou native Taoist priest in Northern Song Dynasty. The text, aimed at the course of his life as well as the religious events, in which he was later involved in Bianjing, delves into the development of Taoism in Northern Song Dynasty---Shenxiao Movement in particular, launched by him during the periods of Zhenghe (1110-1118) and Xuanhe (1119-1125), the reign of Emperor Huizong---and hence the influence as the result of it. In other words, the research builds itself on a network connecting a single personage and time lengthways with events, space and other relevant personages breadthways. Thereafter, it goes further into some issues related with Taoism in Northern Song Dynasty and reevaluates a negative perspective of Lin Lingsu seen in Song History., 李麗涼., 論文(哲學博士)--香港中文大學, 2006., 參考文獻(p. 240-257)., Adviser: Chi Tim Lai., Source: Dissertation Abstracts International, Volume: 68-02, Section: A, page: 0607., Electronic reproduction. Hong Kong : Chinese University of Hong Kong, [2012] System requirements: Adobe Acrobat Reader. Available via World Wide Web., Electronic reproduction. [Ann Arbor, MI] : ProQuest Information and Learning, [200-] System requirements: Adobe Acrobat Reader. Available via World Wide Web., Electronic reproduction. Ann Arbor, MI : ProQuest Information and Learning Company, [200-] System requirements: Adobe Acrobat Reader. Available via World Wide Web., s in Chinese and English., School code: 1307., Lun wen (zhe xue bo shi)--Xianggang Zhong wen da xue, 2006., Can kao wen xian (p. 240-257)., Li Liliang., http://library.cuhk.edu.hk/record=b6074324, Use of this resource is governed by the terms and conditions of the Creative Commons “Attribution-NonCommercial-NoDerivatives 4.0 International” License (http://creativecommons.org/licenses/by-nc-nd/4.0/)