Results 51 to 60 of about 1,834 (180)

Is Location Everything? Regulation of the Endothelial CCM Signaling Complex

Frontiers in Cardiovascular Medicine, 2022
Recent advances have steadily increased the number of proteins and pathways known to be involved in the development of cerebral cavernous malformation (CCM).
Harsha Swamy, Angela J. Glading
doaj   +1 more source

Targeting protein–protein interactions with reversible covalent modalities: Non‐cysteine chemistries

British Journal of Pharmacology, Volume 183, Issue 22, Page 6607-6626, November 2026.
Abstract Protein–protein interactions (PPIs) are central to diverse cellular functions, and represent a rapidly expanding class of therapeutic targets. Advancements in covalent drug design have enabled small‐molecule drugs to overcome challenges associated with engaging these targets, such as limited durations of action and difficult‐to‐drug (expansive,
Ruchira Basu, Steven Fletcher
wiley   +1 more source

Impaired retinoic acid signaling in cerebral cavernous malformations

Scientific Reports, 2023
The capillary-venous pathology cerebral cavernous malformation (CCM) is caused by loss of CCM1/Krev interaction trapped protein 1 (KRIT1), CCM2/MGC4607, or CCM3/PDCD10 in some endothelial cells.
Nastasja Grdseloff, Gwenola Boulday, Claudia J. Rödel, Cécile Otten, Daphné Raphaelle Vannier, Cécile Cardoso, Eva Faurobert, Deepika Dogra, Elisabeth Tournier-Lasserve, Salim Abdelilah-Seyfried   +9 more
doaj   +1 more source

Coexistence of Ebstein Anomaly and Cerebral Cavernous Malformation: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT In most patients who have Ebstein anomaly (EA), neurological symptoms are either associated with thromboembolic episodes or due to arrhythmic complications. Cerebral cavernous malformation (CCM) is a vascular anomaly made up of sinusoidally dilated blood vessels, often presenting with seizure activity or intracranial bleeding.
Nazmin Ahmed, Mohaiminul Islam, Md. Raad Kazi, Jubair Ahmed Sikder, Tajrian Sultana, Mohammad Nazrul Hossain   +5 more
wiley   +1 more source

Two cases of familial cerebral cavernous malformation caused by mutations in the gene [PDF]

Korean Journal of Pediatrics, 2016
Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue.
Im-Yong Yang, Mi-Sun Yum, Eun-Hee Kim, Hae-Won Choi, Han-Wook Yoo, Tae-Sung Ko   +5 more
doaj   +1 more source

KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants [PDF]

, 2021
Cerebral cavernous malformations (CCMs) are vascular malformations that may result in headaches, seizures, focal neurological deficits, and hemorrhage. CCMs occur sporadically (80%) or in familial form (20%), with autosomal dominant inheritance.
Riolo G., Battistini S., Cerase A., Ricci C., Manasse G., Giulia Riolo, Claudia Ricci, Alfonso Cerase, Stefania Battistini, Giuditta Manasse   +9 more
core   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, Volume 11, Issue 4, Page 1184-1199, August 2026.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

Estudios genéticos en pacientes y familias con sospecha de enfermedades neurovasculares hereditarias

Kranion, 2023
Introducción: Las enfermedades neurovasculares minoritarias como CADASIL, cavernomatosis múltiple familiar o arteriopatía de moyamoya requieren un abordaje diagnóstico multidisciplinario que incluya un panel genético.
Sara Banda, Paloma Menéndez-Valladares, Elena Muiño, Elena Arce, Ana Domínguez-Mayoral, Flora Sánchez, Juan M.ª Borreguero, Enrique Montero, Pablo Duque, Soledad Pérez-Sánchez, Irene Alonso, Dominique Hervé, Sonia Reyes, Jabouley Aude, Carla Machado, Hugues Chabriat, Juan J. Ríos, Marina Alonso-Riaño, Ana Trujillo, Manoelle Kossorotoff, Elisabeth Tournier-Lasserve, Joan Montaner   +21 more
doaj   +1 more source

KRIT1 loss-mediated upregulation of NOX1 in stromal cells promotes paracrine pro-angiogenic responses [PDF]

, 2020
Cerebral cavernous malformation (CCM) is a cerebrovascular disorder of proven genetic origin characterized by abnormally dilated and leaky capillaries occurring mainly in the central nervous system, with a prevalence of 0.3–0.5% in the general population.
Trabalzini L., Ercoli J., Finetti F., Schiavo I., Boda E., Zotta A., Retta S. F., Retta, Saverio Francesco, Zotta, Alessia, Trabalzini, Lorenza, Boda, Enrica   +10 more
core   +1 more source

Proteolytic remodelling of the extracellular matrix by pericytes

The FEBS Journal, Volume 293, Issue 13, Page 3899-3953, July 2026.
Pericytes are specialised perivascular cells intimately connected with endothelial cells and essential for the maintenance of vascular beds. They contribute to the formation and remodelling of the extracellular matrix by actively secreting proteases and protease inhibitors.
Tina Burkhard, Ella Milne, Kate Qian, Paola Campagnolo, Salvatore Santamaria   +4 more
wiley   +1 more source