{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T21:09:21Z","timestamp":1782940161288,"version":"3.54.5"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,6,3]],"date-time":"2024-06-03T00:00:00Z","timestamp":1717372800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001843","name":"Science and Engineering Research Board","doi-asserted-by":"publisher","award":["EMR\/2016\/002478"],"award-info":[{"award-number":["EMR\/2016\/002478"]}],"id":[{"id":"10.13039\/501100001843","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009104","name":"Department of Health Research, India","doi-asserted-by":"publisher","award":["R.12020\/05\/2020 \u2010HR"],"award-info":[{"award-number":["R.12020\/05\/2020 \u2010HR"]}],"id":[{"id":"10.13039\/501100009104","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:italic>SERPINA11<\/jats:italic>\n                    is a hitherto poorly characterised gene belonging to Clade A of the SERPIN superfamily, with unknown expression pattern and functional significance. We report a perinatal lethal phenotype in two foetuses from the same family associated with a biallelic loss of function variant in\n                    <jats:italic>SERPINA11<\/jats:italic>\n                    , and provide functional evidence to support its candidature as a Mendelian disorder. The\n                    <jats:italic>SERPINA11<\/jats:italic>\n                    variant\u2010associated foetal phenotype is characterised by gross and histopathological features of extracellular matrix disruption. Western blot and immunofluorescence analyses revealed SERPINA11 expression in multiple mouse tissues, with pronounced expression in the bronchiolar epithelium. We observed a significant decrease in SERPINA11 immunofluorescence in the affected foetal lung compared with a healthy gestation\u2010matched foetus. Protein expression data from HEK293T cell lines following site\u2010directed mutagenesis support the loss of function nature of the variant. Transcriptome analysis from the affected foetal liver indicated the possibility of reduced\n                    <jats:italic>SERPINA11<\/jats:italic>\n                    transcript abundance. This novel serpinopathy appears to be a consequence of the loss of inhibition of serine proteases involved in extracellular matrix remodelling, revealing SERPINA11 as a protease inhibitor critical for embryonic development.\n                  <\/jats:p>","DOI":"10.1111\/cge.14564","type":"journal-article","created":{"date-parts":[[2024,6,4]],"date-time":"2024-06-04T02:50:05Z","timestamp":1717469405000},"page":"367-373","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<i>SERPINA11<\/i>\n                    related novel serpinopathy \u2013 A perinatal lethal disorder"],"prefix":"10.1111","volume":"106","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8738-9888","authenticated-orcid":false,"given":"Shagun","family":"Aggarwal","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Nizam's Institute of Medical Sciences  Hyderabad India"},{"name":"Laboratory of Human and Medical Genetics Centre for DNA Fingerprinting and Diagnostics  Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Venugopal Satidevi","family":"Vineeth","sequence":"additional","affiliation":[{"name":"Laboratory of Human and Medical Genetics Centre for DNA Fingerprinting and Diagnostics  Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shrutika S.","family":"Padwal","sequence":"additional","affiliation":[{"name":"Laboratory of Human and Medical Genetics Centre for DNA Fingerprinting and Diagnostics  Hyderabad India"},{"name":"Laboratory of Cell Signalling Centre for DNA Fingerprinting and Diagnostics  Hyderabad India"},{"name":"Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sameer Ahmed","family":"Bhat","sequence":"additional","affiliation":[{"name":"Laboratory of Cell Signalling Centre for DNA Fingerprinting and Diagnostics  Hyderabad 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