Results 31 to 40 of about 2,405 (204)
A Case Report and Overview of Familial Cerebral Cavernous Malformation Pathogenesis in an Adult Patient [PDF]
, 2018 OBJECTIVE We present a case of a 39 year-old woman who presented with a solitary cavernous malformation hemorrhage without any other lesions, and subsequently presented several months later with a new hemorrhage from a de novo lesion.
Arul, BS, Manu K. +2 more
core +2 more sources
Targeted Therapies for Slow-Flow Vascular Malformations. [PDF]
Australas J DermatolABSTRACT Advances in genetic sequencing technologies have enabled the identification of key activating somatic variants in cellular signalling pathways involved in the pathogenesis of vascular malformations. Given that these genetic variants are also implicated in the pathogenesis of several cancers, the repurposing of targeted therapies developed in ...
Li GX, Sebaratnam DF, Pham JP.
europepmc +2 more sources
Familial multiple cavernous malformation syndrome : MR features in this uncommon but silent threat [PDF]
, 2016 Cerebral cavernous malformations (CCM) are vascular malformations in the brain and spinal cord. The familial form of cerebral cavernous malformation (FCCM) is uncommon.
Lemmerling, Marc +2 more
core +3 more sources
Scientific Reports, 2017 The intracellular scaffold KRIT1/CCM1 is an established regulator of vascular barrier function. Loss of KRIT1 leads to decreased microvessel barrier function and to the development of the vascular disorder Cerebral Cavernous Malformation (CCM).
Luca Goitre +12 more
doaj +1 more source
Heg1 and Ccm1/2 proteins control endocardial mechanosensitivity during zebrafish valvulogenesis
eLife, 2018 Endothelial cells respond to different levels of fluid shear stress through adaptations of their mechanosensitivity. Currently, we lack a good understanding of how this contributes to sculpting of the cardiovascular system.
Stefan Donat +5 more
doaj +1 more source
PLoS ONE, 2015 Cerebral cavernous malformations are fragile blood vessel conglomerates in the central nervous system that are caused by mutations in the CCM1/KRIT1, CCM2 or CCM3 genes.
Stefanie E Herberich +5 more
doaj +1 more source
Cancer-secreted exosomal miR-21-5p induces angiogenesis and vascular permeability by targeting KRIT1
Cell Death and Disease, 2021 Cancer-secreted exosomes are critical mediators of cancer-host crosstalk. In the present study, we showed the delivery of miR-21-5p from colorectal cancer (CRC) cells to endothelial cells via exosomes increased the amount of miR-21-5p in recipient cells.
Qinglian He +13 more
doaj +1 more source
VEGF signalling enhances lesion burden in KRIT1 deficient mice [PDF]
Journal of Cellular and Molecular Medicine, 2019 AbstractThe exact molecular mechanisms underlying CCM pathogenesis remain a complicated and controversial topic. Our previous work illustrated an important VEGF signalling loop in KRIT1 depleted endothelial cells. As VEGF is a major mediator of many vascular pathologies, we asked whether the increased VEGF signalling downstream of KRIT1 depletion was ...
Peter V. DiStefano, Angela J. Glading
openaire +2 more sources
Unexpected distribution of KRIT1 inside the nucleus: new insight in a complex molecular pathway
European Journal of Histochemistry, 2014 KRIT1 is an 84kDa protein that lacks any relevant catalytic domains, associated with the cerebral cavernous malformation disease. We have investigated by means of ultrastructural immunocytochemistry the nuclear distribution of KRIT1 in different cell ...
S. Marzo, V. Galimberti, M. Biggiogera
doaj +1 more source
Clinicoradiologic data of familial cerebral cavernous malformation with age‐related disease burden
Annals of Clinical and Translational Neurology, 2023 Objective Familial cerebral cavernous malformation (FCCM) is an autosomal dominant disease induced by loss‐of‐function mutations in three CCM genes, KRIT1, CCM2, and PDCD10.
Seondeuk Kim +8 more
doaj +1 more source