Results 61 to 70 of about 4,624 (210)
Frontiers in Neurology, 2018 Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the presence of renal cysts and specific extrarenal abnormalities.
Christian Thomas +7 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2021 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
Foram Choksi +12 more
doaj +1 more source
Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene [PDF]
, 2015 Multiple familial meningiomas occur in rare genetic syndromes, particularly neurofibromatosis type 2. The association of meningiomas and cerebral cavernous malformations (CCMs) has been reported in few patients in the medical literature.
Al-Shahi Salman R +14 more
core +1 more source
Readmissions in Patients with Cerebral Cavernous Malformations (CCMs): A National Readmission Database (NRD) Study [PDF]
, 2021 AbstractBACKGROUNDCerebral cavernous malformations (CCMs) are microvascular CNS lesions prone to hemorrhage leading to neurological sequela such as stroke and seizure. A subset of CCM patients have aggressive disease leading to multiple bleeding events, likely resulting multiple hospitalizations.
Akhil Padarti +4 more
openaire +1 more source
Zebrafish models of cerebrovascular disease [PDF]
, 2014 Perturbations in cerebral blood flow and abnormalities in blood vessel structure are the hallmarks of cerebrovascular disease. While there are many genetic and environmental factors that affect these entities through a heterogeneous group of disease ...
Peterson, Randall T, Walcott, Brian P
core +1 more source
Cerebral Glioblastoma Mimicking a Cavernous Malformation: A Case Report and Literature Review
Brain Science Advances, 2017 Glioblastomas are highly malignant and invasive brain tumors. Cerebral cavernous malformations (CCMs) are vascular diseases of congenital and occult vascular dysplasia, which may arise sporadically or may be inherited due to autosomal dominant condition.
Jiefei Li, Yuqi Zhang, Huancong Zuo
doaj +1 more source
Recent insights into cerebral cavernous malformations: animal models of CCM and the human phenotype [PDF]
The FEBS Journal, 2010 Cerebral cavernous malformations are common vascular lesions of the central nervous system that predispose to seizures, focal neurologic deficits and potentially fatal hemorrhagic stroke. Human genetic studies have identified three genes associated with the disease and biochemical studies of these proteins have identified interaction partners and ...
Aubrey C, Chan +3 more
openaire +2 more sources
Small GTPase Rap1 Is Essential for Mouse Development and Formation of Functional Vasculature [PDF]
, 2015 BACKGROUND: Small GTPase Rap1 has been implicated in a number of basic cellular functions, including cell-cell and cell-matrix adhesion, proliferation and regulation of polarity.
Chrzanowska-Wodnicka, Magdalena +3 more
core +2 more sources
Untreated cerebral cavernous malformation (CCM) – impact on quality of life
, 2019 Objective: To estimate health related quality of life (QOL) with the diagnosis of an untreated cerebral cavernous malformation (CCM) and to analyze possible influencing factors. Methods: We performed a cross-sectional study based on our prospective uni-center CCM database (2017-2018), using standardized[for full text, please go to the a.m. URL]
Herten, A +6 more
openaire +1 more source
Defective autophagy is a key feature of cerebral cavernous malformations
EMBO Molecular Medicine, 2015 Cerebral cavernous malformation (CCM) is a major cerebrovascular disease affecting approximately 0.3–0.5% of the population and is characterized by enlarged and leaky capillaries that predispose to seizures, focal neurological deficits, and fatal ...
Saverio Marchi +17 more
doaj +1 more source