{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T23:59:16Z","timestamp":1780963156770,"version":"3.54.1"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T00:00:00Z","timestamp":1776988800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T00:00:00Z","timestamp":1780963200000},"content-version":"vor","delay-in-days":46,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National\u2002Science\u2002Foundation\u2002of\u2002China","doi-asserted-by":"crossref","award":["No. 82104756"],"award-info":[{"award-number":["No. 82104756"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Science\u2002Foundation\u2002of\u2002Zhejiang province","award":["No. LQ22H270002"],"award-info":[{"award-number":["No. LQ22H270002"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Cytogenet"],"DOI":"10.1186\/s13039-026-00764-5","type":"journal-article","created":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T15:24:17Z","timestamp":1777044257000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Disheveled associated activator of morphogenesis 2 variants may produce alport-like changes: a case report"],"prefix":"10.1186","volume":"19","author":[{"given":"Danhua","family":"Yang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Han","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenliang","family":"Fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junfen","family":"Fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,4,24]]},"reference":[{"issue":"8","key":"764_CR1","doi-asserted-by":"publisher","first-page":"1272","DOI":"10.1093\/ndt\/gfz131","volume":"34","author":"R Torra","year":"2019","unstructured":"Torra R, Furlano M. New therapeutic options for Alport syndrome. Nephrol Dial Transplant. 2019;34(8):1272\u20139.","journal-title":"Nephrol Dial Transplant"},{"issue":"6","key":"764_CR2","doi-asserted-by":"publisher","first-page":"1025","DOI":"10.1093\/ckj\/sfz176","volume":"13","author":"A Matthaiou","year":"2020","unstructured":"Matthaiou A, Poulli T, Deltas C. Prevalence of clinical, pathological and molecular features of glomerular basement membrane nephropathy caused by COL4A3 or COL4A4 mutations: a systematic review. Clin Kidney J. 2020;13(6):1025\u201336.","journal-title":"Clin Kidney J"},{"issue":"2","key":"764_CR3","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1053\/j.ajkd.2020.03.026","volume":"77","author":"CE Kashtan","year":"2021","unstructured":"Kashtan CE. Alport syndrome: achieving early diagnosis and treatment. Am J Kidney Dis. 2021;77(2):272\u20139.","journal-title":"Am J Kidney Dis"},{"issue":"1","key":"764_CR4","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1038\/nrm2816","volume":"11","author":"MA Chesarone","year":"2010","unstructured":"Chesarone MA, DuPage AG, Goode BL. Unleashing formins to remodel the actin and microtubule cytoskeletons. Nat Rev Mol Cell Biol. 2010;11(1):62\u201374.","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"17","key":"764_CR5","doi-asserted-by":"publisher","first-page":"3181","DOI":"10.1007\/s00018-018-2855-3","volume":"75","author":"J Fern\u00e1ndez-Barrera","year":"2018","unstructured":"Fern\u00e1ndez-Barrera J, Alonso MA. Coordination of microtubule acetylation and the actin cytoskeleton by formins. Cell Mol Life Sci. 2018;75(17):3181\u201391.","journal-title":"Cell Mol Life Sci"},{"issue":"8","key":"764_CR6","doi-asserted-by":"publisher","first-page":"1961","DOI":"10.1681\/ASN.2020060777","volume":"32","author":"Y Takemon","year":"2021","unstructured":"Takemon Y, Wright V, Davenport B, Gatti DM, Sheehan SM, Letson K, et al. Uncovering modifier genes of X-linked Alport syndrome using a novel multiparent mouse model. J Am Soc Nephrol. 2021;32(8):1961\u201373.","journal-title":"J Am Soc Nephrol"},{"issue":"6","key":"764_CR7","doi-asserted-by":"publisher","first-page":"1113","DOI":"10.1016\/j.ajhg.2020.11.008","volume":"107","author":"R Schneider","year":"2020","unstructured":"Schneider R, Deutsch K, Hoeprich GJ, Marquez J, Hermle T, Braun DA, et al. DAAM2 variants cause nephrotic syndrome via actin dysregulation. Am J Hum Genet. 2020;107(6):1113\u201328.","journal-title":"Am J Hum Genet"},{"issue":"8","key":"764_CR8","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1002\/cm.21113","volume":"70","author":"EC Krainer","year":"2013","unstructured":"Krainer EC, Ouderkirk JL, Miller EW, Miller MR, Mersich AT, Blystone SD. The multiplicity of human formins: expression patterns in cells and tissues. Cytoskeleton (Hoboken). 2013;70(8):424\u201338.","journal-title":"Cytoskeleton (Hoboken)"},{"issue":"5","key":"764_CR9","doi-asserted-by":"publisher","first-page":"1084","DOI":"10.1016\/j.cell.2012.04.021","volume":"149","author":"T Nishimura","year":"2012","unstructured":"Nishimura T, Honda H, Takeichi M. Planar cell polarity links axes of spatial dynamics in neural-tube closure. Cell. 2012;149(5):1084\u201397.","journal-title":"Cell"},{"issue":"1","key":"764_CR10","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1016\/j.devcel.2011.10.025","volume":"22","author":"HK Lee","year":"2012","unstructured":"Lee HK, Deneen B. DAAM2 is required for dorsal patterning via modulation of canonical Wnt signaling in the developing spinal cord. Dev Cell. 2012;22(1):183\u201396.","journal-title":"Dev Cell"},{"issue":"14","key":"764_CR11","doi-asserted-by":"publisher","first-page":"327","DOI":"10.21037\/atm.2019.06.14","volume":"7","author":"SW Sun","year":"2019","unstructured":"Sun SW, Zhou M, Chen L, Wu JH, Meng ZJ, Miao SY, et al. Whole exome sequencing identifies a rare variant in DAAM2 as a potential candidate in idiopathic pulmonary ossification. Ann Transl Med. 2019;7(14):327.","journal-title":"Ann Transl Med"},{"issue":"10","key":"764_CR12","doi-asserted-by":"publisher","DOI":"10.3390\/cells10102554","volume":"10","author":"L Labat-de-Hoz","year":"2021","unstructured":"Labat-de-Hoz L, Alonso MA. Formins in human disease. Cells. 2021;10(10):2554.","journal-title":"Cells"}],"container-title":["Molecular Cytogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13039-026-00764-5","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13039-026-00764-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13039-026-00764-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T23:15:25Z","timestamp":1780960525000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s13039-026-00764-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,24]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["764"],"URL":"https:\/\/doi.org\/10.1186\/s13039-026-00764-5","relation":{},"ISSN":["1755-8166"],"issn-type":[{"value":"1755-8166","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,24]]},"assertion":[{"value":"6 February 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 April 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 April 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"23"}}