{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T23:27:29Z","timestamp":1778628449533,"version":"3.51.4"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T00:00:00Z","timestamp":1678320000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T00:00:00Z","timestamp":1678320000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100005270","name":"Fujian Provincial Department of Science and Technology","doi-asserted-by":"crossref","award":["2020Y2003"],"award-info":[{"award-number":["2020Y2003"]}],"id":[{"id":"10.13039\/501100005270","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001809","name":"the National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["82171327"],"award-info":[{"award-number":["82171327"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001809","name":"the National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["81870930"],"award-info":[{"award-number":["81870930"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"DOI":"10.1007\/s10048-023-00714-y","type":"journal-article","created":{"date-parts":[[2023,3,26]],"date-time":"2023-03-26T20:50:32Z","timestamp":1679863832000},"page":"137-146","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A novel KRIT1\/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations"],"prefix":"10.1007","volume":"24","author":[{"given":"Chunwang","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Penghui","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weilin","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haojie","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ke","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lingyun","family":"Zhuo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yaqing","family":"Kang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiu","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuanxiang","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dezhi","family":"Kang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fuxin","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,3,9]]},"reference":[{"issue":"6","key":"714_CR1","doi-asserted-by":"publisher","first-page":"1251","DOI":"10.1177\/0271678X20914996","volume":"41","author":"J Lin","year":"2021","unstructured":"Lin J, Liang J, Wen J et al (2021) RNF213mutations of are responsible for sporadic cerebral cavernous malformation and lead to a mulberry-like cluster in zebrafish. J Cereb Blood Flow Metab: Off J Int Soc Cereb Blood Flow Metab 41(6):1251\u20131263","journal-title":"J Cereb Blood Flow Metab: Off J Int Soc Cereb Blood Flow Metab"},{"key":"714_CR2","doi-asserted-by":"publisher","first-page":"1128","DOI":"10.3389\/fneur.2018.01128","volume":"9","author":"K Wang","year":"2018","unstructured":"Wang K, Wu D, Zhang B et al (2018) KRIT1\/CCM1Novel and gene variants in chinese families with cerebral cavernous malformations. Front Neurol 9:1128","journal-title":"Front Neurol"},{"issue":"2","key":"714_CR3","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1016\/S1474-4422(15)00303-8","volume":"15","author":"M Horne","year":"2016","unstructured":"Horne M, Flemming K, Su I et al (2016) Clinical course of untreated cerebral cavernous malformations: a meta-analysis of individual patient data. Lancet Neurol 15(2):166\u2013173","journal-title":"Lancet Neurol"},{"issue":"9","key":"714_CR4","doi-asserted-by":"publisher","first-page":"2005","DOI":"10.1016\/j.mayocp.2019.11.005","volume":"95","author":"K Flemming","year":"2020","unstructured":"Flemming K, Lanzino G (2020) Cerebral cavernous malformation: what a practicing clinician should know. Mayo Clin Proc 95(9):2005\u20132020","journal-title":"Mayo Clin Proc"},{"issue":"4","key":"714_CR5","doi-asserted-by":"publisher","first-page":"492","DOI":"10.1001\/jamaneurol.2018.3634","volume":"76","author":"M Chohan","year":"2019","unstructured":"Chohan M, Marchi\u00f2 S, Morrison L et al (2019) Emerging pharmacologic targets in cerebral cavernous malformation and potential strategies to alter the natural history of a difficult disease: a review. JAMA Neurol 76(4):492\u2013500","journal-title":"JAMA Neurol"},{"key":"714_CR6","doi-asserted-by":"publisher","first-page":"70","DOI":"10.3389\/fneur.2020.00070","volume":"11","author":"L Yang","year":"2020","unstructured":"Yang L, Wu J, Zhang J (2020) A novel CCM2 gene mutation associated with cerebral cavernous malformation. Front Neurol 11:70","journal-title":"Front Neurol"},{"key":"714_CR7","doi-asserted-by":"publisher","first-page":"1876","DOI":"10.1007\/s12031-021-01814-w","volume":"71","author":"C Ricci","year":"2021","unstructured":"Ricci C, Cerase A, Riolo G et al (2021) KRIT1 gene in patients with cerebral cavernous malformations: clinical features and molecular characterization of novel variants. J Mol Neurosci 71:1876","journal-title":"J Mol Neurosci"},{"issue":"12","key":"714_CR8","doi-asserted-by":"publisher","first-page":"2325","DOI":"10.1093\/hmg\/8.12.2325","volume":"8","author":"T Sahoo","year":"1999","unstructured":"Sahoo T, Johnson E, Thomas J et al (1999) Mutations in the gene encoding KRIT1, a Krev-1\/rap1a binding protein, cause cerebral cavernous malformations (CCM1). Hum Mol Genet 8(12):2325\u20132333","journal-title":"Hum Mol Genet"},{"issue":"12","key":"714_CR9","doi-asserted-by":"publisher","first-page":"1851","DOI":"10.1093\/hmg\/7.12.1851","volume":"7","author":"H Craig","year":"1998","unstructured":"Craig H, G\u00fcnel M, Cepeda O et al (1998) Multilocus linkage identifies two new loci for a Mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Human Mol Gen 7(12):1851\u20131858","journal-title":"Human Mol Gen"},{"issue":"3","key":"714_CR10","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1093\/hmg\/4.3.453","volume":"4","author":"J Dubovsky","year":"1995","unstructured":"Dubovsky J, Zabramski J, Kurth J et al (1995) A gene responsible for cavernous malformations of the brain maps to chromosome 7q. Hum Mol Genet 4(3):453\u2013458","journal-title":"Hum Mol Genet"},{"issue":"2","key":"714_CR11","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1161\/STROKEAHA.111.625467","volume":"43","author":"D McDonald","year":"2012","unstructured":"McDonald D, Shi C, Shenkar R et al (2012) Fasudil decreases lesion burden in a murine model of cerebral cavernous malformation disease. Stroke 43(2):571\u2013574","journal-title":"Stroke"},{"key":"714_CR12","doi-asserted-by":"crossref","unstructured":"W\u00fcstehube J, Bartol A, Liebler S et al (2010) Cerebral cavernous malformation protein CCM1 inhibits sprouting angiogenesis by activating DELTA-NOTCH signaling. Proc Natl Acad Sci USA 107(28):12640-12645","DOI":"10.1073\/pnas.1000132107"},{"issue":"5","key":"714_CR13","doi-asserted-by":"publisher","first-page":"1337","DOI":"10.1161\/STROKEAHA.114.007512","volume":"46","author":"G Schulz","year":"2015","unstructured":"Schulz G, Wieland E, W\u00fcstehube-Lausch J et al (2015) Cerebral Cavernous malformation-1 protein controls DLL4-Notch3 signaling between the endothelium and pericytes. Stroke 46(5):1337\u20131343","journal-title":"Stroke"},{"issue":"5","key":"714_CR14","first-page":"405","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Gen Med: Off J Am College Med Gen 17(5):405\u2013424","journal-title":"Gen Med: Off J Am College Med Gen"},{"issue":"10","key":"714_CR15","doi-asserted-by":"publisher","first-page":"2888","DOI":"10.3390\/cancers12102888","volume":"12","author":"M Dinevska","year":"2020","unstructured":"Dinevska M, Gazibegovic N, Morokoff A et al (2020) Inhibition of radiation and temozolomide-induced glioblastoma invadopodia activity using ion channel drugs. Cancers 12(10):2888","journal-title":"Cancers"},{"issue":"2","key":"714_CR16","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1016\/j.devcel.2014.12.016","volume":"32","author":"M Renz","year":"2015","unstructured":"Renz M, Otten C, Faurobert E et al (2015) Regulation of \u03b21 integrin-Klf2-mediated angiogenesis by CCM proteins. Dev Cell 32(2):181\u2013190","journal-title":"Dev Cell"},{"key":"714_CR17","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1016\/j.freeradbiomed.2013.11.020","volume":"68","author":"L Goitre","year":"2014","unstructured":"Goitre L, De Luca E, Braggion S et al (2014) KRIT1 loss of function causes a ROS-dependent upregulation of c-Jun. Free Radical Biol Med 68:134\u2013147","journal-title":"Free Radical Biol Med"},{"issue":"7597","key":"714_CR18","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1038\/nature17178","volume":"532","author":"Z Zhou","year":"2016","unstructured":"Zhou Z, Tang A, Wong W et al (2016) Cerebral cavernous malformations arise from endothelial gain of MEKK3-KLF2\/4 signalling. Nature 532(7597):122\u2013126","journal-title":"Nature"},{"issue":"2","key":"714_CR19","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1083\/jcb.200705175","volume":"179","author":"A Glading","year":"2007","unstructured":"Glading A, Han J, Stockton R et al (2007) KRIT-1\/CCM1 is a Rap1 effector that regulates endothelial cell cell junctions. J Cell Biol 179(2):247\u2013254","journal-title":"J Cell Biol"},{"issue":"2","key":"714_CR20","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1136\/jnnp.71.2.188","volume":"71","author":"R Clatterbuck","year":"2001","unstructured":"Clatterbuck R, Eberhart C, Crain B et al (2001) Ultrastructural and immunocytochemical evidence that an incompetent blood-brain barrier is related to the pathophysiology of cavernous malformations. J Neurol Neurosurg Psychiatry 71(2):188\u2013192","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"4","key":"714_CR21","doi-asserted-by":"publisher","first-page":"438","DOI":"10.1016\/j.clineuro.2012.06.023","volume":"115","author":"G Tanriover","year":"2013","unstructured":"Tanriover G, Sozen B, Seker A et al (2013) Ultrastructural analysis of vascular features in cerebral cavernous malformations. Clin Neurol Neurosurg 115(4):438\u2013444","journal-title":"Clin Neurol Neurosurg"},{"issue":"6","key":"714_CR22","doi-asserted-by":"publisher","first-page":"1454","DOI":"10.1097\/00006123-200006000-00027","volume":"46","author":"J Wong","year":"2000","unstructured":"Wong J, Awad I, Kim J (2000) Ultrastructural pathological features of cerebrovascular malformations: a preliminary report. Neurosurg 46(6):1454\u20131459","journal-title":"Neurosurg"},{"key":"714_CR23","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1016\/j.biocel.2016.09.011","volume":"81","author":"S Retta","year":"2016","unstructured":"Retta S, Glading A (2016) Oxidative stress and inflammation in cerebral cavernous malformation disease pathogenesis: two sides of the same coin. Int J Biochem Cell Biol 81:254\u2013270","journal-title":"Int J Biochem Cell Biol"},{"issue":"7","key":"714_CR24","doi-asserted-by":"publisher","first-page":"e11786","DOI":"10.1371\/journal.pone.0011786","volume":"5","author":"L Goitre","year":"2010","unstructured":"Goitre L, Balzac F, Degani S et al (2010) KRIT1 regulates the homeostasis of intracellular reactive oxygen species. PLoS ONE 5(7):e11786","journal-title":"PLoS ONE"},{"key":"714_CR25","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1016\/j.freeradbiomed.2021.06.021","volume":"172","author":"A Perrelli","year":"2021","unstructured":"Perrelli A, Retta SF (2021) Polymorphisms in genes related to oxidative stress and inflammation: Emerging links with the pathogenesis and severity of Cerebral Cavernous Malformation disease. Free Radic Biol Med 172:403\u2013417","journal-title":"Free Radic Biol Med"},{"issue":"1","key":"714_CR26","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1186\/s12883-020-01660-0","volume":"20","author":"R He","year":"2020","unstructured":"He R, Li H, Sun Y et al (2020) Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report. BMC Neurol 20(1):72","journal-title":"BMC Neurol"},{"issue":"4","key":"714_CR27","doi-asserted-by":"crossref","first-page":"570","DOI":"10.4103\/aian.AIAN_684_19","volume":"23","author":"R Pedapati","year":"2020","unstructured":"Pedapati R, Vishnu V, Singh M et al (2020) CADASIL and cavernomas: a common mechanism. Ann Indian Acad Neurol 23(4):570\u2013572","journal-title":"Ann Indian Acad Neurol"},{"issue":"7","key":"714_CR28","first-page":"1294","volume":"11","author":"V Benedetti","year":"2022","unstructured":"Benedetti V, Canzoneri R, Perrelli A et al (2022) Next-generation sequencing advances the genetic diagnosis of cerebral cavernous malformation (CCM). Antioxidants (Basel, Switzerland) 11(7):1294","journal-title":"Antioxidants (Basel, Switzerland)"}],"container-title":["neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-023-00714-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10048-023-00714-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-023-00714-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,9]],"date-time":"2023-12-09T16:56:30Z","timestamp":1702140990000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10048-023-00714-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,9]]},"references-count":28,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2023,4]]}},"alternative-id":["714"],"URL":"https:\/\/doi.org\/10.1007\/s10048-023-00714-y","relation":{},"ISSN":["1364-6753"],"issn-type":[{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,9]]},"assertion":[{"value":"17 August 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 February 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 March 2023","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"}}]}}