Results 71 to 80 of about 1,834 (180)

A conserved CCM complex promotes apoptosis non-autonomously by regulating zinc homeostasis

Nature Communications, 2019
Cerebral Cavernous Malformations (CCM) are often caused by mutations in CCM1/KRIT1. Here, Chapman et al. elegantly show that the CCM complex promotes apoptosis by regulating zinc homeostasis and storage via a conserved mechanism that likely generates the
Eric M. Chapman, Benjamin Lant, Yota Ohashi, Bin Yu, Michael Schertzberg, Christopher Go, Deepika Dogra, Janne Koskimäki, Romuald Girard, Yan Li, Andrew G. Fraser, Issam A. Awad, Salim Abdelilah-Seyfried, Anne-Claude Gingras, W. Brent Derry   +14 more
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

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Some vascular anomalies, such as hamartomas associated with PTEN hamartoma tumor syndrome (PHTS) and fibroadipose vascular anomaly (FAVA, often due to PI3KCA variants), share similar clinical, radiological, and histopathological presentations that challenge clinicians to provide an accurate diagnosis.
Luciana Daniela Garlisi Torales, Kristina Woodis, Allison Britt, Lea F. Surrey, Abhay Srinivasan, Arupa Ganguly, Maria Limmina, Dong Li, Suzanne P. MacFarland, Denise M. Adams, Sarah E. Sheppard   +10 more
wiley   +1 more source

Glucose-sensing microRNA-21 disrupts ROS homeostasis and impairs antioxidant responses in cellular glucose variability

Cardiovascular Diabetology, 2018
Background Antioxidant enzymes play a fundamental role in counteracting oxidative stress induced by high glucose. Although mitochondrial superoxide dismutase (SOD2) is the principal defence against the toxicity of superoxide anions, the mechanism of its ...
Lucia La Sala, Simona Mrakic-Sposta, Stefano Micheloni, Francesco Prattichizzo, Antonio Ceriello   +4 more
doaj   +1 more source

Plasma Proteomic Profiling of a Group of Anxious Dogs by LC‐MS/MS: A Case–Control Study

PROTEOMICS – Clinical Applications, Volume 19, Issue 4, July 2025.
ABSTRACT Purpose Anxiety is the most common underlying cause of behavioral problems in dogs, which remain a top reason for relinquishment and euthanasia. Despite its high prevalence, anxiety is often underdiagnosed, partly due to a limited understanding of biological processes and absence of diagnostic biomarkers.
Claudia Gaither, Robert Popp, Christoph H. Borchers, Francis Beaudry, Marion Desmarchelier   +4 more
wiley   +1 more source

A mechanism of Rap1-induced stabilization of endothelial cell–cell junctions [PDF]

, 2011
Activation of Rap1 small GTPases stabilizes cell–cell junctions, and this activity requires Krev Interaction Trapped gene 1 (KRIT1). Loss of KRIT1 disrupts cardiovascular development and causes autosomal dominant familial cerebral cavernous ...
Jian J. Liu, Alexandre R. Gingras, Liu, Jian J, Gingras, Alexandre R, Stockton, Rebecca A, Han, Jaewon, Ginsberg, Mark H, Ablooglu, Ararat J, Mark H. Ginsberg, Andrey A. Bobkov, Jaewon Han, Rebecca A. Stockton, Ararat J. Ablooglu, Bobkov, Andrey A   +13 more
core   +1 more source

Defective autophagy is a key feature of cerebral cavernous malformations

EMBO Molecular Medicine, 2015
Cerebral cavernous malformation (CCM) is a major cerebrovascular disease affecting approximately 0.3–0.5% of the population and is characterized by enlarged and leaky capillaries that predispose to seizures, focal neurological deficits, and fatal ...
Saverio Marchi, Mariangela Corricelli, Eliana Trapani, Luca Bravi, Alessandra Pittaro, Simona Delle Monache, Letizia Ferroni, Simone Patergnani, Sonia Missiroli, Luca Goitre, Lorenza Trabalzini, Alessandro Rimessi, Carlotta Giorgi, Barbara Zavan, Paola Cassoni, Elisabetta Dejana, Saverio Francesco Retta, Paolo Pinton   +17 more
doaj   +1 more source

Adding to Your Tool Box: Laser Therapy for Vascular Anomalies

Pediatric Dermatology, Volume 42, Issue 4, Page 716-727, July/August 2025.
ABSTRACT Adjuvant laser therapy of vascular anomalies is based on the principle of selective photo‐thermolysis, through targeted destruction of selected chromophores with minimal injury to surrounding tissue. Choice of laser wavelength, treatment parameters, and predicted response to therapy are dependent on the dominant chromophore within the vascular
Kevin V. Thomas, Todd Le, Feben Messele, Catharine B. Garland, Eric J. Monroe, Denise Metry, Yakir Levin, Kristen M. Kelly, Lisa M. Arkin   +8 more
wiley   +1 more source

Structural basis of the junctional anchorage of the cerebral cavernous malformations complex [PDF]

, 2012
The products of genes that cause cerebral cavernous malformations (CCM1/KRIT1, CCM2, and CCM3) physically interact. CCM1/KRIT1 links this complex to endothelial cell (EC) junctions and maintains junctional integrity in part by inhibiting RhoA.
Alexandre R. Gingras, Jian J. Liu, Gingras, Alexandre R, Liu, Jian J, Ginsberg, Mark H, Mark H. Ginsberg   +5 more
core   +1 more source

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

, 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.
Guglielmotto, Michela, Moglia, Andrea, Saverio Francesco Retta, Luca Goitre, Goitre, Luca, Marco Forni, Andrea Moglia, Stefano Braggion, De Luca, Elisa, Trabalzini, Lorenza, Lorenza Trabalzini, Biasi, Fiorella, Trapani, Eliana, Fiorella Biasi, Retta, Saverio Francesco, Eliana Trapani, Michela Guglielmotto, Braggion, Stefano, Forni, Marco, Elisa De Luca   +19 more
core   +1 more source