Genetic Insights Into Coronary Microvascular Disease. [PDF]
MicrocirculationABSTRACT Coronary microvascular disease (CMVD) affects the coronary pre‐arterioles, arterioles, and capillaries and can lead to blood supply–demand mismatch and cardiac ischemia. CMVD can present clinically as ischemia or myocardial infarction with no obstructive coronary arteries (INOCA or MINOCA, respectively). Currently, therapeutic options for CMVD
Wayne N +5 more
europepmc +2 more sources
Heart of glass anchors Rasip1 at endothelial cell-cell junctions to support vascular integrity. [PDF]
, 2016 Heart of Glass (HEG1), a transmembrane receptor, and Rasip1, an endothelial-specific Rap1-binding protein, are both essential for cardiovascular development.
de Kreuk, Bart-Jan +5 more
core +2 more sources
Fibronectin rescues aberrant phenotype of endothelial cells lacking either CCM1, CCM2 or CCM3 [PDF]
The FASEB Journal, 2020 Abstract Loss‐of‐function variants in CCM1/KRIT1 , CCM2 , and CCM3/PDCD10 are associated with autosomal dominant cerebral cavernous malformations (CCMs). CRISPR/Cas9‐mediated CCM3 inactivation in
Schwefel, K. +9 more
openaire +4 more sources
Frontiers in Molecular Biosciences, 2021 Cerebral cavernous malformations are slow-flow thrombi-containing vessels induced by two-step inactivation of the CCM1, CCM2 or CCM3 gene within endothelial cells. They predispose to intracerebral bleedings and focal neurological deficits.
Christiane D. Much +9 more
doaj +1 more source
Mean-value identities as an opportunity for Monte Carlo error reduction [PDF]
, 2009 In the Monte Carlo simulation of both Lattice field-theories and of models of Statistical Mechanics, identities verified by exact mean-values such as Schwinger-Dyson equations, Guerra relations, Callen identities, etc., provide well known and sensitive ...
Fernandez, L. A., Martin-Mayor, V.
core +3 more sources
CCM2–CCM3 interaction stabilizes their protein expression and permits endothelial network formation [PDF]
Journal of Cell Biology, 2015 Mutations in the essential adaptor proteins CCM2 or CCM3 lead to cerebral cavernous malformations (CCM), vascular lesions that most frequently occur in the brain and are strongly associated with hemorrhagic stroke, seizures, and other neurological disorders.
Draheim, Kyle M. +6 more
openaire +2 more sources
PDCD10 gene mutations in multiple cerebral cavernous malformations. [PDF]
PLoS ONE, 2014 Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, intracerebral haemorrhages, and focal neurological deficits.
Maria Sole Cigoli +22 more
doaj +1 more source
Genetically diagnosed Birt-Hogg-Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report. [PDF]
, 2016 When faced with an unusual clinical feature in a patient with a Mendelian disorder, the clinician may entertain the possibilities of either the feature representing a novel manifestation of that disorder or the co-existence of a different inherited ...
Skytte, Anne-Bine +2 more
core +2 more sources
Influence of assimilating rainfall derived from WSR-88D radar on the rainstorm forecasts over the southwestern United States [PDF]
, 2006 In this study, the impact of rainfall assimilation on the forecasts of convective rainfall over the mountainous areas in the southwestern United States is investigated. The rainfall is derived from the U.S.
Gao, X, Sorooshian, S, Xiao, Q, Xu, J
core +3 more sources
Targeting miR-27a/VE-cadherin interactions rescues cerebral cavernous malformations in mice.
PLoS Biology, 2020 Cerebral cavernous malformations (CCMs) are vascular lesions predominantly developing in the central nervous system (CNS), with no effective treatments other than surgery.
Jia Li +12 more
doaj +1 more source