Results 181 to 190 of about 4,624 (210)

Abstract WP389: Unraveling Cerebral Cavernous Malformation Pathogenesis: Insights from a Radiation-Induced Endothelial Dysmorphism Model

Stroke
Introduction: Mouse models have been a valuable tool for studying the molecular mechanisms driving cerebral cavernous malformation (CCM) pathogenesis.
Roberto Alcazar, Abhinav Srinath, David Tieri, Diana Vera Cruz, S. Allaw, Dominic Montas, Fidel Haro, Erik Pearson, Peter Pytel, I. Awad, S. Polster   +10 more
semanticscholar   +1 more source

Persistent Activation of Endothelial Cells is Linked to Thrombosis and Inflammation in Cerebral Cavernous Malformation Disease

bioRxiv
BACKGROUND Cerebral cavernous malformations (CCM) are neurovascular lesions that affect both children and adults, and morbidity often results from thrombosis, bleeding, and neurological dysfunction.
H. Gallego-Gutiérrez, E. Frias-Anaya, Cassandra Bui, Louie Zhao, Emily Hsu, Hannah S. Indralingam, Jakob Körbelin, J. Trejo, Jeffrey Steinberg, Nathan R. Zemke, M. Lopez-Ramirez   +10 more
semanticscholar   +1 more source

DNA promoter methylation of CCM genes in human cerebral cavernous malformations: Importance of confirming MSP data through sequencing

European Journal of Medical Genetics, 2020
Cerebral cavernous malformations (CCMs) is the second most common cerebrovascular disease and is classified as familial (20%) and sporadic (80%) forms. Loss of function mutation of three CCM genes results in the familial CCM. Considering the similar clinic presentation of familial and sporadic CCMs, and based on enriched CpG islands in the DNA promoter
Saban, Dino, Larisch, Joel, Nickel, Ann-Christin, Pierscianek, Daniela, Dammann, Philipp, Sure, Ulrich, Zhu, Yuan   +6 more
openaire   +2 more sources

Integration of artificial intelligence and high-content screening enabled identification of drugs for long-term treatment of cerebral cavernous malformation disease

bioRxiv
Background Adults and children with cerebral cavernous malformations (CCMs) are at risk of experiencing lifelong complications such as hemorrhagic strokes, neurological deficits, and epileptic seizures.
E. Frias-Anaya, H. Gallego-Gutiérrez, Cassandra Bui, J. Birrueta, Jeffrey Steinberg, I. Niesman, B. Gongol, Brina Nguyen, Aaryaman Sawhney, Zaida Mizushima, Nyle Connolly, Bethan Kilpatrick, I. Awad, Hemal H. Patel, J. Trejo, J. Momper, Andrea Taddei, Miguel A. Lopez-Ramirez   +17 more
semanticscholar   +1 more source

PO-37 | Trigeminal autonomic cephalalgia as the initial presentation of a cerebral cavernous malformation: a rare case report

Confinia cephalalgica (Milano)
Background: We report the case of a patient presenting with trigeminal autonomic cephalalgia (TAC)-like headache as the initial symptom of familial cerebral cavernous malformations (CCMs) associated with a pathogenic microdeletion in the KRIT1 gene. A 49-
Società Italiana per lo studio delle Cefalee (SISC)
semanticscholar   +1 more source

Cerebral cavernous malformation (CCM) disease: from monogenic forms to genetic susceptibility factors.

Journal of neurosurgical sciences, 2015
Cerebral cavernous malformation (CCM) is a vascular disease of proven genetic origin, which may arise sporadically or can be inherited as autosomal dominant condition with incomplete penetrance and highly variable expressivity. CCM lesions manifest across a range of different phenotypes, including wide interindividual differences in lesion number, size
TRAPANI, ELIANA, RETTA, Saverio Francesco   +1 more
openaire   +2 more sources

Infratentorial Cerebral Cavernous Malformation May be a Risk Factor for Symptomatic Bleeding and Precocity of Symptoms: A Multicenter, Propensity Score Matched, Case-Control Study.

Current Neurovascular Research
BACKGROUND Cerebral Cavernous Malformation (CCM) is one of the most common types of vascular malformation of the central nervous system. Intracerebral hemorrhage, seizures, and lesional growth are the main clinical manifestations. Natural history studies
G. F. Galvão, Ricardo Castro Filho, Alexandre Martins Cunha, Andre André Guimarães Soares, Marcos Antônio Dellaretti Filho, Jorge Marcondes de Souza   +5 more
semanticscholar   +1 more source

From Genes and Mechanisms to Molecular-Targeted Therapies: The Long Climb to the Cure of Cerebral Cavernous Malformation (CCM) Disease.

Methods in molecular biology, 2020
S. Retta, A. Perrelli, L. Trabalzini, Federica Finetti   +3 more
semanticscholar   +1 more source

Abstract WP224: Association of Quality-of-Life Domains and Clinical Symptoms in Pediatric Cerebral Cavernous Malformation Patients

Stroke
Introduction: Cerebral cavernous malformations (CCMs) in children are associated with focal seizures, intracranial hemorrhage, and neurologic deficits, impacting quality of life (QoL). However, previous studies have not evaluated the impact of CCMs on
S. Chawla, Mateo Ortiz Ambrosio, Nhu Huynh, J. Nelson, Charles E McCulloch, Rachel Vassar, E. Smith, S. Vadivelu, Amy L Akers, Cornelia Lee, J. Zabramski, Michel T. Torbey, L. Morrison, I. Awad, Helen Kim   +14 more
semanticscholar   +1 more source

High-throughput differentiation of human blood vessel organoids reveals overlapping and distinct functions of the cerebral cavernous malformation proteins

bioRxiv
Cerebral cavernous malformations (CCMs) are clusters of thin-walled enlarged blood vessels in the central nervous system that are prone to recurrent hemorrhage and can occur in both sporadic and familial forms.
Dariush Skowronek, Robin A. Pilz, Valeriia V. Saenko, Lara Mellinger, D. Singer, S. Ribback, Anja Weise, Kevin Claaßen, Christian Büttner, Emily M. Brockmann, Christian A. Hübner, Thiha Aung, S. Haerteis, S. Bekeschus, Arif B. Ekici, U. Felbor, M. Rath   +16 more
semanticscholar   +1 more source