Clinicoradiologic data of familial cerebral cavernous malformation with age‐related disease burden
Sign Up to like & getrecommendations! Published in 2023 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51728
Abstract: Familial cerebral cavernous malformation (FCCM) is an autosomal dominant disease induced by loss‐of‐function mutations in three CCM genes, KRIT1, CCM2, and PDCD10. However, previous studies paid little attention to analyzing the radiologic features and age‐related… read more here.
Keywords: familial cerebral; age related; disease; related disease ... See more keywords
Assessing the association of common genetic variants in EPHB4 and RASA1 with phenotype severity in familial cerebral cavernous malformation.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1794
Abstract: BACKGROUND To investigate whether common variants in EPHB4 and RASA1 are associated with cerebral cavernous malformation (CCM) disease severity phenotypes, including intracranial hemorrhage (ICH), total and large lesion counts. METHODS Familial CCM cases enrolled in… read more here.
Keywords: malformation; severity; variants ephb4; cerebral cavernous ... See more keywords
Spectrophotometric Method for Determining Glyoxalase 1 Activity in Cerebral Cavernous Malformation (CCM) Disease.
Sign Up to like & getrecommendations! Published in 2020 at "Methods in molecular biology"
DOI: 10.1007/978-1-0716-0640-7_33
Abstract: Glyoxalase 1 (Glo1) is a glutathione (GSH)-dependent enzyme that catalyzes the isomerization of the hemithioacetal formed non-enzymatically from methylglyoxal (MG) and GSH to S-D-lactoylglutathione (SLG). The activity of Glo1 is measured spectrophotometrically by following the… read more here.
Keywords: glyoxalase; ccm disease; malformation ccm; cerebral cavernous ... See more keywords
Automated algorithm for counting microbleeds in patients with familial cerebral cavernous malformations
Sign Up to like & getrecommendations! Published in 2017 at "Neuroradiology"
DOI: 10.1007/s00234-017-1845-8
Abstract: PurposeFamilial cerebral cavernous malformation (CCM) patients present with multiple lesions that can grow both in number and size over time and are reliably detected on susceptibility-weighted imaging (SWI). Manual counting of lesions is arduous and… read more here.
Keywords: automated algorithm; counting microbleeds; ccm; cerebral cavernous ... See more keywords
A rupture risk analysis of cerebral cavernous malformation associated with developmental venous anomaly using susceptibility-weighted imaging
Sign Up to like & getrecommendations! Published in 2019 at "Neuroradiology"
DOI: 10.1007/s00234-019-02274-1
Abstract: Purpose To search for the risk factors closely related to cerebral cavernous malformation associated with developmental venous anomaly (CCM-DVA) lesions rupture, laying foundations for the development of reasonable individual treatment plans for patients. Methods In… read more here.
Keywords: risk; ccm dva; rupture; dva ... See more keywords
Cerebral cavernous malformation 3 relieves subarachnoid hemorrhage-induced neuroinflammation in rats through inhibiting NF-kB signaling pathway
Sign Up to like & getrecommendations! Published in 2020 at "Brain Research Bulletin"
DOI: 10.1016/j.brainresbull.2020.04.003
Abstract: Subarachnoid hemorrhage (SAH) is a severe acute cerebrovascular disease with high rates of disability and death. In recent years, a large number of studies has shown that early brain injury (EBI) may be a crucial… read more here.
Keywords: neuroinflammation; subarachnoid hemorrhage; signaling pathway; ccm3 ... See more keywords
Familial Cerebral Cavernous Malformation Syndrome with Concomitant Fourth Ventricular Ependymoma: True Association or Mere Coincidence?
Sign Up to like & getrecommendations! Published in 2020 at "Cancer genetics"
DOI: 10.1016/j.cancergen.2020.04.075
Abstract: Familial cerebral cavernous malformation syndromes are most commonly caused by mutations in one of three genes. The overlap of these genetic malformations with other acquired neoplastic lesions and congenital malformations is still under investigation. To… read more here.
Keywords: malformation syndrome; fourth ventricular; malformation; cerebral cavernous ... See more keywords
A novel CCM1/KRIT1 heterozygous deletion mutation (c.1919delT) in a Chinese family with familial cerebral cavernous malformation
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Neurology and Neurosurgery"
DOI: 10.1016/j.clineuro.2017.11.005
Abstract: BACKGROUND Cerebral cavernous malformation (CCM) is a relatively rare congenital vascular anomaly in the central venous system. Its inherited form, familial cerebral cavernous malformation (FCCM), is an autosomal-dominant disease with incomplete penetrance. The pathogenic genes… read more here.
Keywords: family; cerebral cavernous; ccm1 krit1; cavernous malformation ... See more keywords
NADPH oxidase regulates the expression of angiogenic growth factors in Cerebral Cavernous Malformation cellular models
Sign Up to like & getrecommendations! Published in 2018 at "Free Radical Biology and Medicine"
DOI: 10.1016/j.freeradbiomed.2018.04.485
Abstract: Cerebral Cavernous Malformation (CCM) is a neurovascular disease characterized by abnormal vascular structures associated with defects on vascular lumen formation and vascular fragility, mostly localized in the brain. Lack of KRIT1 protein associated to CCM… read more here.
Keywords: angiogenic growth; expression; cerebral cavernous; nadph oxidase ... See more keywords
Biomechanics of Endothelial Tubule Formation Differentially Modulated by Cerebral Cavernous Malformation Proteins
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DOI: 10.1016/j.isci.2018.11.001
Abstract: Summary At early stages of organismal development, endothelial cells self-organize into complex networks subsequently giving rise to mature blood vessels. The compromised collective behavior of endothelial cells leads to the development of a number of… read more here.
Keywords: biomechanics; tubule formation; cavernous malformation; cerebral cavernous ... See more keywords
Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2017.06.043
Abstract: Cerebral cavernous malformations (CCMs) are clusters of capillaries in the brain that may cause focal deficits or seizures in affected patients. They occur in both sporadic and inherited autosomal dominant form. Germline mutations in CCM1,… read more here.
Keywords: ccm; cavernous malformations; cerebral cavernous; gene ... See more keywords