Results 61 to 70 of about 1,864 (178)

Risk of Clinical Events in Presymptomatic Familial Cerebral Cavernous Malformations

European Journal of Neurology, Volume 33, Issue 6, June 2026.
ABSTRACT Background and Purpose Familial cerebral cavernous malformations (fCCM) may cause focal neurological deficits (FND) due to hemorrhagic or non‐hemorrhagic events and epileptic seizures (ES). With the widespread use of magnetic resonance imaging (MRI) and genetic testing, diagnosis is now frequently established at a presymptomatic stage, before ...
Constantina Rodica Popa, Dominique Hervé, Nassira Alili, Estelle Dubus, Abbas Taleb, Fanny Fernandes, Florence Riant, Elisabeth Tournier Lasserve, Louis Lambert, Hugues Chabriat, Stéphanie Guey   +10 more
wiley   +1 more source

A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation

Frontiers in Neurology, 2020
Cerebral cavernous malformations (CCMs) are the second most prevalent type of vascular malformation within the central nervous system. CCMs occur in two forms—sporadic and familial—the latter of which has an autosomal dominant mode of inheritance with ...
Lipeng Yang, Jian Wu, Jing Zhang
doaj   +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

Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance

Frontiers in Neurology, 2018
Wide comprehension of genetic features of cerebral cavernous malformations (CCM) represents the starting point to better manage patients and risk rating in relatives. The causative mutations spectrum is constantly growing. KRIT1, CCM2, and PDCD10 are the
Concetta Scimone, Concetta Scimone, Luigi Donato, Luigi Donato, Luigi Donato, Zoe Katsarou, Sevasti Bostantjopoulou, Rosalia D'Angelo, Antonina Sidoti, Antonina Sidoti   +9 more
doaj   +1 more source

Molecular Diagnosis in a Specialised Neurogenetic Clinic With Access to Whole‐Genome Sequencing

Acta Neurologica Scandinavica, Volume 2026, Issue 1, 2026.
Background Rare diseases, collectively affecting 1 in 17 people in the United Kingdom and Ireland, require coordinated care. Specialised multidisciplinary clinics offer a streamlined approach for diagnosis and management of rare neurogenetic disorders.
Patrick B. Moloney, Nicholas W. Wood, Rob Rouhl   +2 more
wiley   +1 more source

KRIT1 is a differentially expressed gene in brain metastatic human breast cancer.

, 2021
Metastasis to the brain is a clinical problem in patients with breast cancer (1-3). We mined published microarray data (4, 5) to compare primary and metastatic tumor transcriptomes for the discovery of genes associated with brain metastasis in humans ...
Shahan Mamoor
semanticscholar   +1 more source

Epigenetics in B‐CLL

International Journal of Genomics, Volume 2026, Issue 1, 2026.
B‐cell chronic lymphocytic leukemia (B‐CLL) is the most common hematological malignancy in adults. Its clinical course is heterogeneous, ranging from indolent forms with slow progression to aggressive variants refractory to conventional treatment.
Alexandra Chu, Flavia Soto, Rodrigo Hurtado, Carlos A. Tirado, Priyanka Sharma   +4 more
wiley   +1 more source

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

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

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