Results 81 to 90 of about 2,366 (190)

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

Cavernous malformations: surgical management in Belo Horizonte Santa Casa Hospital [PDF]

, 2004
The better understanding of the natural history of the cavernous malformations and the improvement of diagnostic methods and of microsurgical techniques have made the management of cavernous malformations possible through the conservative treatment ...
Carvalho, Gervásio Teles Cardoso de, Fagundes-Pereyra, Wladimir Jose, Faria, Marcello Penteado, Sousa, Atos Alves de   +3 more
core   +3 more sources

Protein Kinase Cα (Pkcα) Regulates the Nucleocytoplasmic Shuttling of KRIT1

The FASEB Journal, 2021
KRIT1 is a scaffolding protein that regulates endothelial barrier function, endothelial cell‐matrix adhesion, and redox homeostasis and signaling. However, rather little is known about how KRIT1 is itself regulated. KRIT1 is found in both the cytoplasm and the nucleus, yet the upstream signaling proteins and mechanisms that regulate KRIT1 ...
Angela Glading, Elisa De Luca, Andrea Perrelli, Harsha Swamy, Mariapaola Nitti, Mario Passalacqua, Anna Lisa Furfaro, Anna Maria Salzano, Andrea Scaloni, Saverio Francesco Retta   +9 more
openaire   +1 more source

Absence of mutations at SERPINI1 gene in a cohort of patients with Cerebral Cavernous Malformations

Journal of Biological Research, 2021
Cerebral cavernous malformations (CCM) are vascular lesions affecting brain microvessels. While molecular bases of the sporadic condition are not yet well elucidated, familial forms arise following mutations at three different loci KRIT1, CCM2 and PDCD10.
Concetta Scimone, Rosalia D'Angelo, Simona Alibrandi, Fabiana Nicita, Luigi Donato, Antonina Sidoti   +5 more
doaj   +1 more source

21229. NUEVA MUTACIÓN EN KRIT1 COMO CAUSANTE DE CAVERNOMATOSIS FAMILIAR

Neurology Perspectives
L. Delgado Bárcena, C. Fernández Ramajo, B. Sancho Valderrama, L. Romano Flores, M. Gallego Prieto, N. Arteta Gutiérrez, A. Bonilla Zhañay, E. Madrigal Lkhou, S. Ortega Cubero   +8 more
doaj   +2 more sources

Molecular Genetic Features of Cerebral Cavernous Malformations (CCM) Patients: An Overall View from Genes to Endothelial Cells

Cells, 2021
Cerebral cavernous malformations (CCMs) are vascular lesions that affect predominantly microvasculature in the brain and spinal cord. CCM can occur either in sporadic or familial form, characterized by autosomal dominant inheritance and development of ...
Giulia Riolo, Claudia Ricci, Stefania Battistini   +2 more
doaj   +1 more source

Incidental Findings Identified by Prenatal Microarray Analysis and Consensus Reporting Criteria of the Catalan Public Health Network XIGENICS

Prenatal Diagnosis, Volume 45, Issue 3, Page 326-347, March 2025.
ABSTRACT Objective The study aimed to evaluate the frequency of pathogenic copy number variants (CNVs) classified as incidental findings (IFs) in prenatal diagnosis and to develop consensus recommendations for standardizing their reporting across six centers within the Catalan public health system (XIGENICS network).
Irene Mademont‐Soler, Neus Castells‐Sarret, Adela Cisneros, Laura Foj, Clara Benavent‐Bofill, Mar Xunclà, Marina Viñas‐Jornet, Andrea Ros, Natalia Rey, Ignacio Blanco, Ricard López‐Ortega, María Obón, Alberto Plaja   +12 more
wiley   +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