Results 21 to 30 of about 2,366 (190)

Genotype-phenotype correlations in multiple lesions of familial cerebral cavernous malformations concerning phosphatidylinositol 3-kinase catalytic subunit alpha mutations. [PDF]

Clin Transl Med
Clinical and Translational Medicine, Volume 14, Issue 3, March 2024.
Wang J, Tang J, Yang Y, Jiao Y, Huo R, Xu H, Zhao S, Sun Y, He Q, Yu Q, Wang S, Zhao J, Wang J, Cao Y.   +13 more
europepmc   +2 more sources

Targeted Therapies for Slow-Flow Vascular Malformations. [PDF]

Australas J Dermatol
ABSTRACT Advances in genetic sequencing technologies have enabled the identification of key activating somatic variants in cellular signalling pathways involved in the pathogenesis of vascular malformations. Given that these genetic variants are also implicated in the pathogenesis of several cancers, the repurposing of targeted therapies developed in ...
Li GX, Sebaratnam DF, Pham JP.
europepmc   +2 more sources

A Chinese Family With Cerebral Cavernous Malformation Caused by a Frameshift Mutation of the CCM1 Gene: A Case Report and Review of the Literature

Frontiers in Neurology, 2022
BackgroundFamilial cerebral cavernous malformation (FCCM) is a vascular malformation disease closely linked to three identified genes: KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3.
Wenyu Liu, Wenyu Liu, Ming Liu, Ming Liu, Di Lu, Di Lu, Jiwei Wang, Jiwei Wang, Zexin Cao, Zexin Cao, Xuchen Liu, Xuchen Liu, Zichao Feng, Zichao Feng, Bin Huang, Bin Huang, Xinyu Wang, Xinyu Wang   +17 more
doaj   +1 more source

Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations. [PDF]

, 2015
PurposeThe phenotypic manifestations of cerebral cavernous malformation disease caused by rare PDCD10 mutations have not been systematically examined, and a mechanistic link to Rho kinase-mediated hyperpermeability, a potential therapeutic target, has ...
Akers, Amy L, Austin, Cecilia, Awad, Issam A, De Souza, Jorge Marcondes, Gallione, Carol J, Gunel, Murat, Lee, Connie, Marchuk, Douglas A, McDonald, David A, Mikati, Abdul Ghani, Min, Wang, Rebeiz, Tania, Rorrer, Autumn, Shenkar, Robert, Shi, Changbin, Stockton, Rebecca A, Zhang, Lingjiao   +16 more
core   +2 more sources

Identification of the Kelch family protein Nd1-L as a novel molecular interactor of KRIT1.

PLoS ONE, 2012
Loss-of-function mutations of the KRIT1 gene (CCM1) have been associated with the Cerebral Cavernous Malformation (CCM) disease, which is characterized by serious alterations of brain capillary architecture.
Paolo Guazzi, Luca Goitre, Elisa Ferro, Valentina Cutano, Chiara Martino, Lorenza Trabalzini, Saverio Francesco Retta   +6 more
doaj   +1 more source

Heart of glass anchors Rasip1 at endothelial cell-cell junctions to support vascular integrity. [PDF]

, 2016
Heart of Glass (HEG1), a transmembrane receptor, and Rasip1, an endothelial-specific Rap1-binding protein, are both essential for cardiovascular development.
de Kreuk, Bart-Jan, Gingras, Alexandre R, Gingras, Anne-Claude, Ginsberg, Mark H, Knight, James Dr, Liu, Jian J   +5 more
core   +2 more sources

A Case Report and Overview of Familial Cerebral Cavernous Malformation Pathogenesis in an Adult Patient [PDF]

, 2018
OBJECTIVE We present a case of a 39 year-old woman who presented with a solitary cavernous malformation hemorrhage without any other lesions, and subsequently presented several months later with a new hemorrhage from a de novo lesion.
Arul, BS, Manu K., Gooch, MD, Michael R., Khanna, Omaditya   +2 more
core   +2 more sources

VEGF signalling enhances lesion burden in KRIT1 deficient mice [PDF]

Journal of Cellular and Molecular Medicine, 2019
AbstractThe exact molecular mechanisms underlying CCM pathogenesis remain a complicated and controversial topic. Our previous work illustrated an important VEGF signalling loop in KRIT1 depleted endothelial cells. As VEGF is a major mediator of many vascular pathologies, we asked whether the increased VEGF signalling downstream of KRIT1 depletion was ...
Peter V. DiStefano, Angela J. Glading
openaire   +2 more sources

KRIT1 Loss-Of-Function Associated with Cerebral Cavernous Malformation Disease Leads to Enhanced S-Glutathionylation of Distinct Structural and Regulatory Proteins

Antioxidants, 2019
Loss-of-function mutations in the KRIT1 gene are associated with the pathogenesis of cerebral cavernous malformations (CCMs), a major cerebrovascular disease still awaiting therapies.
Laura Cianfruglia, Andrea Perrelli, Claudia Fornelli, Alessandro Magini, Stefania Gorbi, Anna Maria Salzano, Cinzia Antognelli, Francesca Retta, Valerio Benedetti, Paola Cassoni, Carla Emiliani, Giovanni Principato, Andrea Scaloni, Tatiana Armeni, Saverio Francesco Retta   +14 more
doaj   +1 more source

microRNA-Mediated Regulation of Oxidative Stress in Cardiovascular Diseases. [PDF]

J Clin Lab Anal
ABSTRACT Background Cardiovascular diseases (CVDs) are the leading cause of mortality globally, often linked to oxidative stress. MicroRNAs (miRNAs) have emerged as significant regulators of oxidative stress within the cardiovascular system. Objective This review examines the complex relationship between miRNAs and oxidative stress, clarifying their ...
Abolhasani S, Ahmadi Y, Fattahi D, Rostami Y, Chollou KM.   +4 more
europepmc   +2 more sources