Results 71 to 80 of about 827,976 (177)

Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.

PLoS ONE, 2014
ObjectiveTo study the molecular genetic and clinical features of cerebral cavernous malformations (CCM) in a cohort of Spanish patients.MethodsWe analyzed the CCM1, CCM2, and CCM3 genes by MLPA and direct sequencing of exons and intronic boundaries in 94
Rufino Mondéjar, Francisca Solano, Rocío Rubio, Mercedes Delgado, Angel Pérez-Sempere, Antonio González-Meneses, Teresa Vendrell, Guillermo Izquierdo, Amalia Martinez-Mir, Miguel Lucas   +9 more
doaj   +1 more source

YAP Fuels Cerebral Cavernous Malformations by Regulating KLF4 Transcriptional Activity and Protein Stability

MedComm, Volume 7, Issue 11, November 2026.
Cerebral cavernous malformation (CCM) gene complex deficiency dual‐regulates YAP activity via a “dual‐pronged” mechanism: relieving LATS‐mediated inhibition to license YAP nuclear translocation, and promoting MAP3K3‐mediated YAP phosphorylation to stabilize YAP–KLF4 association.
Tingting Ye, Qi Zheng, Zonghao Hu, Haonan Fan, Zhongxing Sun, Xiya Li, Haomin Mo, Chengdong Chang, Yanhua Xu, Kai Wang, Dong Fang, Hai Song   +11 more
wiley   +1 more source

Familial cerebral cavernous angiomatosis

, 1998
Presentamos 3 pacientes con historia de crisis epilépticas de larga evolución y la presencia de cavernomatosis familiar. En 2 de ellos, se resecaron 3 angiomas cavernosos.
Pérez Calvo, José María, Carrillo Yagüe, Rafael, Rodriguez de Lope, Angel, Mateo Sierra, Olga, Martín Velasco, Vicente, Gómez Sierra, Antonio   +5 more
core   +1 more source

Patient‐derived surgical samples reveal the cellular and molecular signatures of glioblastoma infiltration in distinct radiological zones

Brain Pathology, Volume 36, Issue 6, November 2026.
Integrated histological and transcriptional profiling of the glioblastoma periphery reveals clinically relevant tumor infiltration beyond MRI‐defined boundaries. MRI‐guided biopsies from contrast‐enhancing (CE), non‐contrast‐enhancing (nCE), edema (E), and radiologically normal (N) regions demonstrate that nCE areas frequently retain neoplastic and ...
Olaya de Dios, Juan Romero, María de los Ángeles Ramírez‐González, Beatriz Herranz, Alicia Avis‐Bodas, Juliana Manosalva, Diego Megías, Ana Ramos, Juan Manuel Sepúlveda‐Sánchez, Ricardo Gargini, Berta Segura‐Collar, Gabriel Velilla, Bárbara Meléndez, Pedro González, Luis Jiménez‐Roldán, Guillermo García‐Posadas, Aurelio Hernández‐Laín, Ángel Pérez‐Núñez, Pilar Sánchez‐Gómez   +18 more
wiley   +1 more source

SURGERY FOR CAVERNOUS MALFORMATION OF THE CEREBRAL TRUNK [PDF]

, 2019
We present a surgical case with a patient treated for multiple cerebral cavernomas, manifesting with trunk extravasations. This case has special feature as the patient’s twin-sister had asymptomatic cavernous malformation.
G. G. Muzlaev, A. S. Mikhaleva, L. V. Shagal, V. V. Tkachev   +3 more
core  

Evaluating Strategies for the Treatment of Cerebral Cavernous Malformations

, 2010
Cerebral cavernous malformations are common vascular lesions of the central nervous system that predispose to seizures, focal neurological deficits, and potentially fatal hemorrhagic stroke.
Dean Y. Li, Kevin J. Whitehead
core   +1 more source

Epileptogenic lesions in the Australian epilepsy project: A harmonized 3‐T magnetic resonance imaging protocol and its diagnostic yield

Epilepsia, Volume 67, Issue 10, Page 5398-5411, October 2026.
Abstract Objective Detection of epilepsy‐causing structural brain lesions on magnetic resonance imaging (MRI) is critical for diagnosis, prognosis, and treatment planning in people with epilepsy. We aimed to establish an epilepsy‐directed multisite harmonized 3‐T MRI acquisition protocol for the Australian Epilepsy Project (AEP) and describe the ...
David N. Vaughan, David F. Abbott, Amanda Anderson, Greg Fitt, Suyi Ooi, Heath Pardoe, Donna Parker, Yuliya Perchyonok, Eric Pierre, Chris Kokkinos, Robert E. Smith, Michael Stewart, Bahman Tahayori, Chris Tailby, Graeme D. Jackson, the Australian Epilepsy Project Investigators, Zanfina Ademi, Patrick Kwan, Karen Oliver, Mangor Pedersen   +19 more
wiley   +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 ...
Brian Stausbøl-Grøn, James Whitworth, Anne-Bine Skytte   +2 more
core   +4 more sources

Large language models assisted multi-effect variants mining on cerebral cavernous malformation familial whole genome sequencing

Computational and Structural Biotechnology Journal
Cerebral cavernous malformation (CCM) is a polygenic disease with intricate genetic interactions contributing to quantitative pathogenesis across multiple factors.
Yiqi Wang, Jinmei Zuo, Chao Duan, Hao Peng, Jia Huang, Liang Zhao, Li Zhang, Zhiqiang Dong   +7 more
doaj   +1 more source

Iron and Other Metal Ions in Human Health and Disease

MedComm, Volume 7, Issue 10, October 2026.
Iron, copper, zinc, and calcium orchestrate cellular function through distinct yet cooperative mechanisms: redox‐active iron and copper cycle between oxidation states to act as Fenton catalysts and electron carriers in oxidative phosphorylation (OXPHOS); redox‐inert zinc serves as a structural component of zinc‐finger proteins and a catalytic cofactor ...
Xiaofeng Dai, Jitian Li
wiley   +1 more source