Results 91 to 100 of about 2,366 (190)

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

Inherited cavernous malformations of the central nervous system: clinical and genetic features in 19 Swiss families [PDF]

, 2018
Cavernous malformations (CCMs) are benign, well-circumscribed, and mulberry-like vascular malformations that may be found in the central nervous system in up to 0.5% of the population. Cavernous malformations can be sporadic or inherited.
Andermann, F., Baumann, C., Baumgartner, R., Bonassin, F., Georgiadis, D., Graeni, C., Merlo, A., Rouleau, G., Siegel, A., Stepper, F., Sturzenegger, M., Verlaan, D.   +11 more
core  

Genetic mutations and phenotype characteristics in peripheral vascular malformations: A systematic review

Journal of the European Academy of Dermatology and Venereology, Volume 38, Issue 7, Page 1314-1328, July 2024.
Abstract Vascular malformations (VMs) are clinically diverse with regard to the vessel type, anatomical location, tissue involvement and size. Consequently, symptoms and disease impact differ significantly. Diverse causative mutations in more and more genes are discovered and play a major role in the development of VMs.
M. L. E. Stor, S. E. R. Horbach, M. M. Lokhorst, E. Tan, S. M. Maas, C. J. M. van Noesel, C. M. A. M. van der Horst   +6 more
wiley   +1 more source

Clinical pharmacology and tolerability of REC‐994, a redox‐cycling nitroxide compound, in randomized phase 1 dose‐finding studies

Pharmacology Research &Perspectives, Volume 12, Issue 3, June 2024.
Cerebral cavernous malformation (CCM) pathogenesis involves elevated reactive oxygen species (ROS) levels. REC‐994 restores ROS balance, and in double‐blind, placebo‐controlled, trials in healthy volunteers, had low potential for off‐target adverse effects and pharmacokinetics suitable for phase 2 development.
Ron Alfa, Timothy Considine, Shafique Virani, Matt Pfeiffer, Anthony Donato, Daniel Dickerson, Diana Shuster, Joel Ellis, Kristen Rushton, Helen Wei, Christopher Gibson   +10 more
wiley   +1 more source

A Tight Contact: The Expanding Application of Salicylaldehydes in Lysine‐Targeting Covalent Drugs

ChemBioChem, Volume 25, Issue 7, April 2, 2024.
Salicylaldehyde‐bearing ligands can bind the protein targets forming imines with lysine‐amino groups. This drug design improves the affinity and selectivity for specific biological targets. Given the abundance of lysine residues in proteins and the reversible covalent (RC) nature of ligand‐protein interaction, SA‐bearing ligands hold significant ...
Mattia Mason, Laura Belvisi, Luca Pignataro, Alberto Dal Corso   +3 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

Excess stroke in Mexican Americans compared with non-Hispanic Whites: the Brain Attack Surveillance in Corpus Christi Project. [PDF]

, 2004
Mexican Americans are the largest subgroup of Hispanics, the largest minority population in the United States. Stroke is the leading cause of disability and third leading cause of death.
Akuwumi, Olubumi, Al-Senani, Fahmi, Al-Wabil, Areej, Brown, Devin L, Garcia, Nelda, Lisabeth, Lynda D, Longwell, Paxton J, McFarling, David A, Morgenstern, Lewis B, Moyé, Lemuel A, Risser, Jan M H, Smith, Melinda A, Uchino, Ken   +12 more
core   +1 more source

Club cell‐specific telomere protection protein 1 (TPP1) protects against tobacco smoke‐induced lung inflammation, xenobiotic metabolic dysregulation, and injurious responses

FASEB BioAdvances, Volume 6, Issue 2, Page 53-71, February 2024.
Abstract Inhaling xenobiotics, such as tobacco smoke is a major risk factor for pulmonary diseases, e.g., COPD/emphysema, interstitial lung disease, and pre‐invasive diseases. Shelterin complex or telosome provides telomeric end protection during replication.
Thivanka Muthumalage, Chiara Goracci, Irfan Rahman   +2 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