Results 21 to 30 of about 1,834 (180)

Unveiling a Novel Molecular Interaction and Pro-Metastatic Signaling Cascades Driven by KRIT1. [PDF]

Int J Mol Sci
K-Rev Interaction Trapped protein-1 (KRIT1) is a scaffold protein that forms functional protein complexes involved in physiologically important signaling networks. While it is primarily recognized for its association with Cerebral Cavernous Malformations
Paradisi L, Guazzi P, Macis M, Finetti F, Trezza A, De Paolo R, Roncetti M, Marshall JF, Poliseno L, Finetti F, Trabalzini L.   +10 more
europepmc   +2 more sources

Gene burden meta-analysis of 748 879 individuals identifies LGI1-ADAM23 protein complex association with epilepsy. [PDF]

Epilepsia
Abstract Epilepsy affects more than 50 million individuals globally and has a substantial genetic component that remains to be completely understood. Traditional studies have focused on severe, early onset cases enrolled through clinical or research settings.
Lal JC, Leu C, Boßelmann CM, Ivaniuk A, Pérez-Palma E, Lal D.   +5 more
europepmc   +2 more sources

The Role of Immune Infiltration and Oxidative Stress in the Progression of Cerebral Cavernous Malformation. [PDF]

Brain Behav
Mechanism of rupture hemorrhage in cerebral cavernous malformations. Environmental and immune factors promote the progression of lesions and induce the risk of abnormal formation or rupture of cerebrovascular vessels. Abstract Purpose of Review To review how the immune microenvironment and oxidative stress modulate the initiation, maturation, and ...
Zhu X, Yao Y, Yu T, Xiao X.
europepmc   +2 more sources

KRIT1 could serve as a prognostic biomarker for glioma patients

Asian Journal of Surgery
Xiaozhu Zhou, Fanglin Shao, Yujie Xie, Chi Zhang   +3 more
doaj   +3 more sources

Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives. [PDF]

J Neurochem
Cerebral cavernous malformations (CCMs) are vascular lesions in the brain caused by inherited genetic mutations in the CCM1/2/3 genes that disrupt normal blood vessel function. This work demonstrates that these mutations lead to endothelial dysfunction, inflammation, and iron accumulation, which can be detected by magnetic resonance imaging (MRI) and ...
Fontes-Dantas FL, da Fontoura Galvão G, Cunha AM, de Sena Murteira Pinheiro P, Morandi V, de Souza JM.   +5 more
europepmc   +2 more sources

KRIT1 in vascular biology and beyond. [PDF]

Biosci Rep
Abstract KRIT1 is a 75 kDa scaffolding protein which regulates endothelial cell phenotype by limiting the response to inflammatory stimuli and maintaining a quiescent and stable endothelial barrier. Loss-of-function mutations in KRIT1 lead to the development of cerebral cavernous malformations (CCM), a disease marked by the formation ...
Glading AJ.
europepmc   +3 more sources

A Novel CCM2 Missense Variant Caused Cerebral Cavernous Malformations in a Chinese Family

Frontiers in Neuroscience, 2021
Cerebral cavernous malformations (CCMs) are common vascular malformations in the central nervous system. Familial CCMs (FCCMs) are autosomal dominant inherited disease with incomplete penetrance and variable symptoms.
Guoqing Han, Li Ma, Huanhuan Qiao, Lin Han, Qiaoli Wu, Qingguo Li   +5 more
doaj   +1 more source

Cancer-secreted exosomal miR-21-5p induces angiogenesis and vascular permeability by targeting KRIT1

Cell Death and Disease, 2021
Cancer-secreted exosomes are critical mediators of cancer-host crosstalk. In the present study, we showed the delivery of miR-21-5p from colorectal cancer (CRC) cells to endothelial cells via exosomes increased the amount of miR-21-5p in recipient cells.
Qinglian He, Aihua Ye, Weibiao Ye, Xiaomin Liao, Guoqiang Qin, Yongqiang Xu, Yuting Yin, Huanqian Luo, Muhua Yi, Liying Xian, Shihao Zhang, Xiyuan Qin, Wei Zhu, Yuling Li   +13 more
doaj   +1 more source

Heg1 and Ccm1/2 proteins control endocardial mechanosensitivity during zebrafish valvulogenesis

eLife, 2018
Endothelial cells respond to different levels of fluid shear stress through adaptations of their mechanosensitivity. Currently, we lack a good understanding of how this contributes to sculpting of the cardiovascular system.
Stefan Donat, Marta Lourenço, Alessio Paolini, Cécile Otten, Marc Renz, Salim Abdelilah-Seyfried   +5 more
doaj   +1 more source

Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM)

Antioxidants, 2022
Cerebral Cavernous Malformation (CCM) is a cerebrovascular disease of genetic origin that predisposes to seizures, focal neurological deficits and fatal intracerebral hemorrhage. It may occur sporadically or in familial forms, segregating as an autosomal
Valerio Benedetti, Rosalia Canzoneri, Andrea Perrelli, Carlo Arduino, Andrea Zonta, Alfredo Brusco, Saverio Francesco Retta   +6 more
doaj   +1 more source