Results 71 to 80 of about 1,857 (169)

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.
Biasi, Fiorella, Braggion, S., De Luca, Elisa, Forni, M., Goitre, Luca, Guglielmotto, Michela, Moglia, Andrea, Retta, Saverio Francesco, Trabalzini, L., Trapani, Eliana   +9 more
core   +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

Identification of a Novel ECM Remodeling Macrophage Subset in AKI to CKD Transition by Integrative Spatial and Single‐Cell Analysis

Advanced Science, Volume 11, Issue 38, October 16, 2024.
This study sheds new light on the heterogeneous roles of macrophages in the complex and cumbersome pathological process of AKI to CKD. Integrating high‐throughput spatial and single‐cell transcriptomic data, the study identifies distinct macrophage lineages, with renal resident macrophages promoting repair and monocyte‐derived ECM remodeling ...
Yi‐Lin Zhang, Tao‐Tao Tang, Bin Wang, Yi Wen, Ye Feng, Qing Yin, Wei Jiang, Yue Zhang, Zuo‐Lin Li, Min Wu, Qiu‐Li Wu, Jing Song, Steven D. Crowley, Hui‐Yao Lan, Lin‐Li Lv, Bi‐Cheng Liu   +15 more
wiley   +1 more source

Cervicovaginal specimen biomarkers for early detection of ovarian and endometrial cancer: A review

Cancer Medicine, Volume 13, Issue 14, July 2024.
Abstract Background In the last decade, technical innovations have resulted in the development of several minimally invasive diagnostic cancer tools. Within women at high risk of developing ovarian cancer (OC) or endometrial cancer (EC) due to a hereditary cancer syndrome, there is an urgent need for minimally invasive and patient‐friendly methods to ...
Kevin J. J. Kwinten, Victor A. Lemain, Joanne A. de Hullu, William P. J. Leenders, Miranda P. Steenbeek, Anne M. van Altena, Johanna M. A. Pijnenborg   +6 more
wiley   +1 more source

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

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  

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

Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR [PDF]

, 2010
Cerebral cavernous malformations (CCMs) represent a common autosomal dominant disorder that predisposes patients to haemorrhagic strokes and focal neurological signs. About 56% of the hereditary forms of CCMs have been so far associated with mutations in
Belli, Serena, Catapano, Domenico, Coco, Michelina, D'Agruma, Leonardo, D'Angelo, Vincenzo A., Guarnieri, Vito, Muscarella, Lucia Anna, Parrella, Paola, Pulcrano, Giuseppe, Zelante, Leopoldo   +9 more
core   +3 more sources