Results 81 to 90 of about 1,864 (178)

Mapping endothelial-cell diversity in cerebral cavernous malformations at single-cell resolution

eLife, 2020
Cerebral cavernous malformation (CCM) is a rare neurovascular disease that is characterized by enlarged and irregular blood vessels that often lead to cerebral hemorrhage.
Fabrizio Orsenigo, Lei Liu Conze, Suvi Jauhiainen, Monica Corada, Francesca Lazzaroni, Matteo Malinverno, Veronica Sundell, Sara Isabel Cunha, Johan Brännström, Maria Ascención Globisch, Claudio Maderna, Maria Grazia Lampugnani, Peetra Ulrica Magnusson, Elisabetta Dejana   +13 more
doaj   +1 more source

KRIT1 loss-of-function induces a chronic Nrf2-mediated adaptive homeostasis that sensitizes cells to oxidative stress: Implication for Cerebral Cavernous Malformation disease

Free Radical Biology & Medicine, 2018
KRIT1 (CCM1) is a disease gene responsible for Cerebral Cavernous Malformations (CCM), a major cerebrovascular disease of proven genetic origin affecting 0.3–0.5% of the population.
C. Antognelli, E. Trapani, S. Delle Monache, A. Perrelli, Martina Daga, S. Pizzimenti, G. Barrera, P. Cassoni, A. Angelucci, L. Trabalzini, V. Talesa, L. Goitre, S. Retta   +12 more
semanticscholar   +1 more source

Incidental Findings Identified by Prenatal Microarray Analysis and Consensus Reporting Criteria of the Catalan Public Health Network XIGENICS

Prenatal Diagnosis, Volume 45, Issue 3, Page 326-347, March 2025.
ABSTRACT Objective The study aimed to evaluate the frequency of pathogenic copy number variants (CNVs) classified as incidental findings (IFs) in prenatal diagnosis and to develop consensus recommendations for standardizing their reporting across six centers within the Catalan public health system (XIGENICS network).
Irene Mademont‐Soler, Neus Castells‐Sarret, Adela Cisneros, Laura Foj, Clara Benavent‐Bofill, Mar Xunclà, Marina Viñas‐Jornet, Andrea Ros, Natalia Rey, Ignacio Blanco, Ricard López‐Ortega, María Obón, Alberto Plaja   +12 more
wiley   +1 more source

Cerebral cavernous malformations: Review of the genetic and protein-protein interactions resulting in disease pathogenesis

Frontiers in Surgery, 2016
Mutations in the genes KRIT1, CCM2, and PDCD10 are known to result in the formation of cerebral cavernous malformations (CCMs). CCMs are intracranial lesions comprised of aberrantly enlarged cavernous endothelial channels that can result in cerebral ...
Jacob F. Baranoski, M. Yashar S. Kalani, Joseph M. Zabramski   +2 more
doaj   +1 more source

Cerebral vascular malformations: pathogenesis and therapy

MedComm, Volume 5, Issue 12, December 2024.
CVMs management based on imaging genomics and liquid biopsy. In the future, somatic or de novo germline mutation information could be used to direct neurosurgical and medical management of CVMs. Somatic or germline variants can be acquired from imaging genomics or liquid biopsies preoperatively.
Qiheng He, Ran Huo, Yingfan Sun, Zhiyao Zheng, Hongyuan Xu, Shaozhi Zhao, Yang Ni, Qifeng Yu, Yuming Jiao, Wenqian Zhang, Jizong Zhao, Yong Cao   +11 more
wiley   +1 more source

Molecular diagnosis in cerebral cavernous malformations

Neurología (English Edition), 2017
Introduction: Cerebral cavernous malformations (CCMs; OMIM 116860) are enlarged vascular cavities without intervening brain parenchyma whose estimated prevalence in the general population is between 0.1% and 0.5%.
R. Mondejar, M. Lucas
doaj   +1 more source

Diagnóstico molecular de cavernomatosis cerebral

Neurología, 2017
Resumen: Introducción: Las malformaciones cavernosas cerebrales (CCM; OMIM 116860) son engrosamientos cavernosos vasculares sin intervención del parénquima cerebral con una prevalencia estimada en la población general del 0,1-0,5%.
R. Mondejar, M. Lucas
doaj   +1 more source

Novel KRIT1/CCM1 and MGC4607/CCM2 Gene Variants in Chinese Families With Cerebral Cavernous Malformations

Frontiers in Neurology, 2018
Familial cerebral cavernous malformations (CCMs) are autosomal dominant disorders characterized by hemorrhagic strokes, recurrent headache, epilepsy, and focal neurological deficits.
Kang Wang, Dengchang Wu, Baorong Zhang, Guohua Zhao, Guohua Zhao   +4 more
doaj   +1 more source

KRIT1 loss of function causes a ROS-dependent upregulation of c-Jun

Free Radical Biology and Medicine, 2014
Loss-of-function mutations in the KRIT1 gene (CCM1) have been associated with the pathogenesis of cerebral cavernous malformations (CCM), a major cerebrovascular disease. However, KRIT1 functions and CCM pathogenetic mechanisms remain incompletely understood. Indeed, recent experiments in animal models have clearly demonstrated that the homozygous loss
Goitre, Luca, De Luca, Elisa, Braggion, Stefano, Trapani, Eliana, Guglielmotto, Michela, Biasi, Fiorella, Forni, Marco, Moglia, Andrea, Trabalzini, Lorenza, Retta, Saverio Francesco   +9 more
openaire   +4 more sources

P016 | A novel insight into the role of CCM genes in myeloproliferative neoplasms

Haematologica
Introduction. Myeloid neoplasms (MNs) are clonal hematologic disorders characterized by chronic inflammation, oxidative stress, and increased risk of fibrotic and cardiovascular complications.
Cristina Panuzzo
doaj