{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T12:38:28Z","timestamp":1751459908093,"version":"3.37.3"},"reference-count":20,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2020,11,14]],"date-time":"2020-11-14T00:00:00Z","timestamp":1605312000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,3,22]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Patients with spinal muscular atrophy (SMA) are susceptible to the respiratory infections and might be at a heightened risk of poor clinical outcomes upon contracting coronavirus disease 2019 (COVID-19). In the face of the COVID-19 pandemic, the potential associations of SMA with the susceptibility to and prognostication of COVID-19 need to be clarified. We documented an SMA case who contracted COVID-19 but only developed mild-to-moderate clinical and radiological manifestations of pneumonia, which were relieved by a combined antiviral and supportive treatment. We then reviewed a cohort of patients with SMA who had been living in the Hubei province since November 2019, among which the only 1 out of 56 was diagnosed with COVID-19 (1.79%, 1\/56). Bioinformatic analysis was carried out to delineate the potential genetic crosstalk between SMN1 (mutation of which leads to SMA) and COVID-19\/lung injury-associated pathways. Protein-protein interaction analysis by STRING suggested that loss-of-function of SMN1 might modulate COVID-19 pathogenesis through CFTR, CXCL8, TNF and ACE. Expression quantitative trait loci analysis also revealed a link between SMN1 and ACE2, despite low-confidence protein-protein interactions as suggested by STRING. This bioinformatic analysis could give hint on why SMA might not necessarily lead to poor outcomes in patients with COVID-19.<\/jats:p>","DOI":"10.1093\/bib\/bbaa285","type":"journal-article","created":{"date-parts":[[2020,10,1]],"date-time":"2020-10-01T03:20:04Z","timestamp":1601522404000},"page":"1291-1296","source":"Crossref","is-referenced-by-count":6,"title":["Bioinformatic analysis of SMN1\u2013ACE\/ACE2 interactions hinted at a potential protective effect of spinal muscular atrophy against COVID-19-induced lung injury"],"prefix":"10.1093","volume":"22","author":[{"given":"Zheng","family":"Li","sequence":"first","affiliation":[{"name":"Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100042, China"}]},{"given":"Xingye","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, Beijing Jishuitan Hospital, Fourth Clinical College of Peking University, Jishuitan Orthopaedic College of Tsinghua University, Beijing, China"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5449-6740","authenticated-orcid":false,"given":"Jianxiong","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100042, China"}]},{"given":"Haining","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100042, China"}]},{"given":"Tianhua","family":"Rong","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100042, China"}]},{"given":"Youxi","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100042, China"}]},{"given":"Erwei","family":"Feng","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100042, China"}]},{"given":"Zhengguang","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Radiology, Dongzhimen Hospital Beijing University of Chinese Medicine. No. 5 Hai Yun Cang, Dongcheng District, Beijing 100700, P.R. China"}]},{"given":"Yang","family":"Jiao","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100042, China"}]},{"given":"Gang","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100042, China"}]},{"given":"Lin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Anaesthesia and Intensive Care, The Chinese University of Hong Kong, Hong Kong, China"}]},{"given":"Matthew Tak","family":"Vai Chan","sequence":"additional","affiliation":[{"name":"Department of Anaesthesia and Intensive Care, The Chinese University of Hong Kong, Hong Kong, China"}]},{"given":"William Ka","family":"Kei Wu","sequence":"additional","affiliation":[{"name":"Department of Anaesthesia and Intensive Care, The Chinese University of Hong Kong, Hong Kong, China"}]}],"member":"286","published-online":{"date-parts":[[2020,11,14]]},"reference":[{"key":"2021032314263452900_ref1","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1056\/NEJMoa2001017","article-title":"A novel coronavirus from patients with pneumonia in China, 2019","volume":"382","author":"Zhu","year":"2020","journal-title":"N Engl J Med"},{"key":"2021032314263452900_ref2","doi-asserted-by":"crossref","first-page":"1708","DOI":"10.1056\/NEJMoa2002032","article-title":"Clinical characteristics of coronavirus disease 2019 in China","volume":"382","author":"Guan","year":"2020","journal-title":"N Engl J Med"},{"key":"2021032314263452900_ref3","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1016\/S1473-3099(20)30120-1","article-title":"An interactive web-based dashboard to track COVID-19 in real time","volume":"20","author":"Dong","year":"2020","journal-title":"Lancet Infect 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