Stem Cell Research, 2020 Induced pluripotent stem cells (iPSCs) generated from young, healthy individuals are valuable tools for investigating molecular disease mechanisms during the early development of the brain vasculature.
Sarahi G. Molina +2 more
doaj +1 more source
Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients [PDF]
BioMed Research International, 2013 Cerebral cavernous malformations (CCMs) are vascular lesions characterized by abnormally enlarged capillary cavities, affecting the central nervous system. CCMs can occur sporadically or as a familial autosomal dominant condition with incomplete penetrance and variable clinical expression attributable to mutations in three different genes:CCM1(K-Rev ...
D'ANGELO, Rosalia +7 more
openaire +3 more sources
Clinical Diagnosis and Magnetic Resonance Imaging in Patients With Transient and Minor Neurological Symptoms: A Prospective Cohort Study [PDF]
, 2022 The utility of magnetic resonance imaging (MRI) brain in patients with transient or minor neurological symptoms is uncertain. We sought to determine the proportion of participants with transient or minor neurological symptoms who had MRI evidence of ...
Al-shahi Salman, Rustam +8 more
core +1 more source
Target Volume Definition for Stereotactic Radiosurgery (SRS) Of Cerebral Cavernous Malformations (CCMS) [PDF]
Cancer Therapy & Oncology International Journal, 2020 Cerebral cavernous malformations (CCMs) are composed of abnormal hyalinized capillary clusters typically surrounded by deposits of hemosiderin. These vascular abnormalities of the brain may be asymptomatic, however, a plethora of symptoms may occur in some of the affected patients including seizures, hemorrhages, and neurological deficits. Stereotactic
openaire +1 more source
Vascularised Brain Organoids: Engineering Strategies and Neurobiological Applications
Cell Proliferation, Volume 59, Issue 3, March 2026.This review highlights emerging strategies to engineer vascularized brain organoids—including endothelial co‐culture, genetic induction, perfusion systems, and in vivo transplantation—and their applications in modelling neurovascular diseases, evaluating BBB drug delivery, and advancing regenerative medicine.
Yeajin Song +4 more
wiley +1 more source
Editome landscape of CCM-derived endothelial cells
RNA Biology, 2022 By regulating several phases of gene expression, RNA editing modifications contribute to maintaining physiological RNA expression levels. RNA editing dysregulation can affect RNA molecule half-life, coding/noncoding RNA interaction, alternative splicing,
Concetta Scimone +7 more
doaj +1 more source
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy. [PDF]
, 2018 BACKGROUND: Sporadic vascular malformations (VMs) are complex congenital anomalies of blood vessels that lead to stroke, life-threatening bleeds, disfigurement, overgrowth, and/or pain.
Al-Olabi, L +45 more
core +4 more sources
Impaired retinoic acid signaling in cerebral cavernous malformations
Scientific Reports, 2023 The capillary-venous pathology cerebral cavernous malformation (CCM) is caused by loss of CCM1/Krev interaction trapped protein 1 (KRIT1), CCM2/MGC4607, or CCM3/PDCD10 in some endothelial cells.
Nastasja Grdseloff +9 more
doaj +1 more source
European Journal of Neurology, Volume 33, Issue 2, February 2026.Hereditary hemorrhagic telangiectasia (HHT) and several HHT‐like syndromes, including Wyburn–Mason, Cobb, Klippel–Trénaunay, Parkes Weber, neurofibromatosis type 1, PHACE(S), capillary malformation–AVM (CM‐AVM), Juvenile polyposis/HHT overlap, HHT type 5, PTEN hamartoma tumor syndrome, and blue rubber bleb nevus syndrome, share overlapping ...
Matteo Palermo, Carmelo Lucio Sturiale
wiley +1 more source
Discovery of a ROCK inhibitor, FPND, which prevents cerebral hemorrhage through maintaining vascular integrity by interference with VE-cadherin [PDF]
, 2017 published_or_final_versio
Ai, N +11 more
core +1 more source