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Holm H Gudbjartsson DF Sulem P Masson G Helgadottir HT Zanon C Magnusson OT Helgason A Saemundsdottir J Gylfason A Stefansdottir H Gretarsdottir S Matthiasson SE Thorgeirsson GM Jonasdottir A Sigurdsson A Stefansson H Werge T Rafnar T Kiemeney LA Parvez B Muhammad R Roden DM Darbar D Thorleifsson G Walters GB Kong A Thorsteinsdottir U Arnar DO Stefansson K 《Nature genetics》2011,43(4):316-320
Through complementary application of SNP genotyping, whole-genome sequencing and imputation in 38,384 Icelanders, we have discovered a previously unidentified sick sinus syndrome susceptibility gene, MYH6, encoding the alpha heavy chain subunit of cardiac myosin. A missense variant in this gene, c.2161C>T, results in the conceptual amino acid substitution p.Arg721Trp, has an allelic frequency of 0.38% in Icelanders and associates with sick sinus syndrome with an odds ratio = 12.53 and P = 1.5 × 10?2?. We show that the lifetime risk of being diagnosed with sick sinus syndrome is around 6% for non-carriers of c.2161C>T but is approximately 50% for carriers of the c.2161C>T variant. 相似文献
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H. M. Shifa ul Haq Arnaud John KOMBE KOMBE Ayesha Zahid Momal Babar Weihong Zeng Hongliang He Tengchuan Jin 《中国科学技术大学学报》2022,52(6):1-1-1-10
The coronavirus disease 2019 (COVID-19) epidemic, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has caused millions of deaths worldwide. Therefore, it is critical to understand the biological basis of SARS-CoV-2 to develop novel approaches to control its spread. The SARS-CoV-2 nucleocapsid (N) protein is an important diagnostic and potent therapeutic target of the disease, as it is involved in numerous important functions in the viral life cycle. Several studies have explained the structural and functional aspects of the SARS-CoV-2 N protein. This review summarizes the currently available data on the evolutionarily conserved N protein of SARS-CoV-2 by providing detailed information on the structural and multifunctional characteristics of the N protein. 相似文献
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