{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T07:56:33Z","timestamp":1790236593680,"version":"4.1.0"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T00:00:00Z","timestamp":1723766400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T00:00:00Z","timestamp":1723766400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genome Var"],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>ApoA-I amyloidosis is an extremely rare form of systemic amyloidosis that commonly involves the heart, kidneys, and liver. ApoA-I amyloidosis is caused by amyloidogenic variants of <jats:italic>APOA1<\/jats:italic> that are inherited in an autosomal dominant manner. Here, we report a 69-year-old man with sporadic cardiac amyloidosis who was born to consanguineous parents and carried a homozygous variant of p.Leu202Arg in <jats:italic>APOA1<\/jats:italic>.<\/jats:p>","DOI":"10.1038\/s41439-024-00288-7","type":"journal-article","created":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T09:03:12Z","timestamp":1723798992000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis"],"prefix":"10.1038","volume":"11","author":[{"given":"Shusuke","family":"Yagi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryosuke","family":"Miyamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masayoshi","family":"Tasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5190-3547","authenticated-orcid":false,"given":"Hiroyuki","family":"Morino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryuji","family":"Otani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muneyuki","family":"Kadota","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takayuki","family":"Ise","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroki","family":"Yamazaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenya","family":"Kusunose","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koji","family":"Yamaguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirotsugu","family":"Yamada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Soeki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuzo","family":"Wakatsuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daiju","family":"Fukuda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuharu","family":"Ueda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masataka","family":"Sata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,8,16]]},"reference":[{"key":"288_CR1","doi-asserted-by":"publisher","first-page":"4171","DOI":"10.1002\/1873-3468.12468","volume":"590","author":"A Arciello","year":"2016","unstructured":"Arciello, A., Piccoli, R. & Monti, D. M. Apolipoprotein A-I: the dual face of a protein. FEBS Lett. 590, 4171\u20134179 (2016).","journal-title":"FEBS Lett."},{"key":"288_CR2","doi-asserted-by":"publisher","first-page":"1610","DOI":"10.1253\/circj.CJ-20-0110","volume":"84","author":"H Kitaoka","year":"2020","unstructured":"Kitaoka, H. et al. JCS 2020 guideline on diagnosis and treatment of cardiac amyloidosis. Circ. J. 84, 1610\u20131671 (2020).","journal-title":"Circ. J."},{"key":"288_CR3","doi-asserted-by":"publisher","first-page":"641","DOI":"10.1016\/S0009-9120(03)00110-3","volume":"36","author":"T Joy","year":"2003","unstructured":"Joy, T., Wang, J., Hahn, A. & Hegele, R. A. Apoa1 related amyloidosis: a case report and literature review. Clin. Biochem. 36, 641\u2013645 (2003).","journal-title":"Clin. Biochem."},{"key":"288_CR4","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1080\/13506129.2020.1858404","volume":"28","author":"M Tasaki","year":"2021","unstructured":"Tasaki, M. et al. Apolipoprotein AI amyloid deposits in the ligamentum flavum in patients with lumbar spinal canal stenosis. Amyloid 28, 107\u2013112 (2021).","journal-title":"Amyloid"},{"key":"288_CR5","doi-asserted-by":"publisher","first-page":"444","DOI":"10.1002\/path.5203","volume":"247","author":"M Tasaki","year":"2019","unstructured":"Tasaki, M. et al. A novel age-related venous amyloidosis derived from EGF-containing fibulin-like extracellular matrix protein 1. J. Pathol. 247, 444\u2013455 (2019).","journal-title":"J. Pathol."},{"key":"288_CR6","doi-asserted-by":"publisher","first-page":"474","DOI":"10.1016\/j.ejmg.2016.05.015","volume":"59","author":"BG Tougaard","year":"2016","unstructured":"Tougaard, B. G. et al. A case report of hereditary apolipoprotein A-I amyloidosis associated with a novel APOA1 mutation and variable phenotype. Eur. J. Med Genet 59, 474\u2013477 (2016).","journal-title":"Eur. J. 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Amyloid fibril proteins and amyloidosis: chemical identification and clinical classification International Society of Amyloidosis 2016 Nomenclature Guidelines. Amyloid 23, 209\u2013213 (2016).","journal-title":"Amyloid"},{"key":"288_CR10","doi-asserted-by":"publisher","first-page":"318","DOI":"10.1016\/0888-7543(90)90288-6","volume":"8","author":"WC Nichols","year":"1990","unstructured":"Nichols, W. C., Gregg, R. E., Brewer, H. B. & Benson, M. D. A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy. Genomics 8, 318\u2013323 (1990).","journal-title":"Genomics"},{"key":"288_CR11","doi-asserted-by":"publisher","first-page":"390","DOI":"10.1194\/jlr.M020883","volume":"53","author":"J Petrlova","year":"2012","unstructured":"Petrlova, J. et al. The fibrillogenic L178H variant of apolipoprotein A-I forms helical fibrils. J. Lipid Res. 53, 390\u2013398 (2012). Mar.","journal-title":"J. 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