2020
DOI: 10.1101/2020.02.12.944421
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Novel hemorrhage models of cerebral cavernous malformations

Abstract: Cerebral cavernous malformations (CCMs) are ectatic capillary-venous malformations that develop in approximately 0.5% of the population. Patients with CCMs may develop headaches, focal neurologic deficits, seizures, and hemorrhages. While symptomatic CCMs, depending upon the anatomic location, can be surgically removed, there is currently no pharmaceutical therapy to treat CCMs. Several mouse models have been developed to better understand CCM pathogenesis and test therapeutics. The most common mouse models in… Show more

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Cited by 4 publications
(1 citation statement)
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“…It has been proven that falling below the threshold of haploinsufficiency for CCMs in microvascular ECs is an essential first step for the pathogenesis of CCM lesions in vivo, generated from both zebrafish [ 26 , 28 ] and mice Ccms mutant models [ 29 ], while the genetic “two-hit” mechanism is just the most extreme end (null) at the spectrum of haploinsufficiency. Approximately 60% of patients with CCMs have the sporadic form of the disease [ 30 ], which is difficult to be explained by the current dominant “two-hit” model [ 31 ] even though clonal expansion data provided some degree of support for this “two-hit” model [ 32 ]. Therefore, there must be a “trigger” to initiate the hemorrhagic events of CCM lesions which is also suggested by our in vitro data.…”
Section: Resultsmentioning
confidence: 99%
“…It has been proven that falling below the threshold of haploinsufficiency for CCMs in microvascular ECs is an essential first step for the pathogenesis of CCM lesions in vivo, generated from both zebrafish [ 26 , 28 ] and mice Ccms mutant models [ 29 ], while the genetic “two-hit” mechanism is just the most extreme end (null) at the spectrum of haploinsufficiency. Approximately 60% of patients with CCMs have the sporadic form of the disease [ 30 ], which is difficult to be explained by the current dominant “two-hit” model [ 31 ] even though clonal expansion data provided some degree of support for this “two-hit” model [ 32 ]. Therefore, there must be a “trigger” to initiate the hemorrhagic events of CCM lesions which is also suggested by our in vitro data.…”
Section: Resultsmentioning
confidence: 99%