{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T20:15:47Z","timestamp":1786133747073,"version":"build-2736575974"},"reference-count":99,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","funder":[{"DOI":"10.13039\/100009268","name":"Alport Syndrome Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100009268","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":["JASN"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:p>\n                    Alport syndrome is an inherited disorder characterized by kidney disease, sensorineural hearing loss, and ocular abnormalities. Alport syndrome is caused by pathogenic variants in\n                    <jats:italic toggle=\"yes\">COL4A3<\/jats:italic>\n                    ,\n                    <jats:italic toggle=\"yes\">COL4A4<\/jats:italic>\n                    , or\n                    <jats:italic toggle=\"yes\">COL4A5<\/jats:italic>\n                    , which encode the\n                    <jats:italic toggle=\"yes\">\u03b1<\/jats:italic>\n                    3,\n                    <jats:italic toggle=\"yes\">\u03b1<\/jats:italic>\n                    4, and\n                    <jats:italic toggle=\"yes\">\u03b1<\/jats:italic>\n                    5 chains of type 4 collagen that forms a heterotrimer expressed in the glomerular basement membrane. Knowledge of its genetic basis has informed the development of different models in dogs, mice, and rats that reflect its autosomal and X-linked inheritance patterns as well as different mutation types, including protein-truncating and missense variants. A key difference between these two types is the synthesis of\n                    <jats:italic toggle=\"yes\">\u03b1<\/jats:italic>\n                    3\n                    <jats:italic toggle=\"yes\">\u03b1<\/jats:italic>\n                    4\n                    <jats:italic toggle=\"yes\">\u03b1<\/jats:italic>\n                    5(IV), which is not made in autosomal Alport syndrome (two pathogenic variants in trans or biallelic) or male patients with X-linked Alport syndrome due to protein-truncating variants. By contrast,\n                    <jats:italic toggle=\"yes\">\u03b1<\/jats:italic>\n                    3\n                    <jats:italic toggle=\"yes\">\u03b1<\/jats:italic>\n                    4\n                    <jats:italic toggle=\"yes\">\u03b1<\/jats:italic>\n                    5(IV) is synthesized in Alport syndrome because of missense variants. For missense variants,\n                    <jats:italic toggle=\"yes\">in vitro<\/jats:italic>\n                    studies suggest that these cause impaired type 4 collagen trafficking and endoplasmic reticulum stress. For protein-truncating variants, knockout models suggest that persistence of an immature\n                    <jats:italic toggle=\"yes\">\u03b1<\/jats:italic>\n                    1\n                    <jats:italic toggle=\"yes\">\u03b1<\/jats:italic>\n                    1\n                    <jats:italic toggle=\"yes\">\u03b1<\/jats:italic>\n                    2(IV) network is associated with biomechanical strain, which activates endothelin-A receptors leading to mesangial filopodia formation. Moreover, studies suggest that activation of collagen receptors, integrins and discoidin domain receptor 1, play a role in disease propagation. In this review, we provide an overview of how these genotype\u2013phenotype mechanisms are key for a precision medicine\u2013based approach in the future.\n                  <\/jats:p>","DOI":"10.1681\/asn.0000000647","type":"journal-article","created":{"date-parts":[[2025,2,3]],"date-time":"2025-02-03T12:03:12Z","timestamp":1738584192000},"page":"1176-1183","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":7,"title":["Genotype-Based Molecular Mechanisms in Alport Syndrome"],"prefix":"10.1681","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9747-244X","authenticated-orcid":false,"given":"Emine Bilge","family":"Caparali","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, University of Texas Southwestern, Dallas, Texas"},{"name":"Toronto General Hospital Research Institute, Toronto, Ontario, Canada"},{"name":"Division of Nephrology, University Health Network, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-5873-3919","authenticated-orcid":false,"given":"Vanessa","family":"De Gregorio","sequence":"additional","affiliation":[{"name":"Toronto General Hospital Research Institute, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0628-9071","authenticated-orcid":false,"given":"Moumita","family":"Barua","sequence":"additional","affiliation":[{"name":"Toronto General Hospital Research Institute, Toronto, Ontario, Canada"},{"name":"Division of Nephrology, University Health Network, Toronto, Ontario, Canada"},{"name":"Department of Medicine, University of Toronto, Toronto, Ontario, Canada"},{"name":"Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2025,2,3]]},"reference":[{"issue":"9","key":"B1-20260218","doi-asserted-by":"crossref","first-page":"1736","DOI":"10.1681\/ASN.V991736","article-title":"Alport syndrome and thin glomerular basement membrane disease","volume":"9","author":"Kashtan","year":"1998","journal-title":"J Am Soc Nephrol."},{"issue":"5","key":"B2-20260218","doi-asserted-by":"crossref","first-page":"100631","DOI":"10.1016\/j.xkme.2023.100631","article-title":"Alport syndrome: clinical spectrum and therapeutic advances","volume":"5","author":"Gregorio","year":"2023","journal-title":"Kidney Med."},{"issue":"1","key":"B3-20260218","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1038\/ki.1993.8","article-title":"Molecular genetics of Alport syndrome","volume":"43","author":"Tryggvason","year":"1993","journal-title":"Kidney 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