Results 1 to 10 of about 2,405 (204)

Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene [PDF]

BMC Neurology, 2003
Background Cerebral cavernous malformations (CCM) present as either sporadic or autosomal dominant conditions with incomplete penetrance of symptoms. Differences in genetic and environmental factors might be minimized among first-degree relatives.
Gamero Miguel A, Solano Francisca, García-Moreno José M, Costa Alzenire F, Lucas Miguel, Izquierdo Guillermo   +5 more
doaj   +5 more sources

Inhibition of the HEG1–KRIT1 interaction increases KLF4 and KLF2 expression in endothelial cells

FASEB BioAdvances, 2021
The transmembrane protein heart of glass1 (HEG1) directly binds to and recruits Krev interaction trapped protein 1 (KRIT1) to endothelial junctions to form the HEG1–KRIT1 protein complex that establishes and maintains junctional integrity.
Miguel Alejandro Lopez-Ramirez, Matthew Bautista, Hao Sun   +2 more
exaly   +2 more sources

Dual recruitment of two CCM2 molecules to KRIT1 suppresses KLF4 expression [PDF]

Nature Communications
Regulated expression of Kruppel like factor (KLF) transcription factors is essential for normal maintenance of endothelial cells, but loss of either K-Rev interaction trapped 1 (KRIT1) or cerebral cavernous malformations 2 (CCM2) proteins results in ...
Clotilde Huet-Calderwood, Oriana S. Fisher, Sreya Das, Valerie L. Su, Titus J. Boggon, David A. Calderwood   +5 more
doaj   +2 more sources

PTEN/PKM2/ERα-Driven Glyoxalase 1 Overexpression Sustains PC3 Prostate Cancer Cell Growth Through MG-H1/RAGE Pathway Desensitization Leading to H₂O₂-Dependent KRIT1 Downregulation [PDF]

Antioxidants
Glyoxalase 1 (Glo1) functions as a catalyst that neutralizes methylglyoxal (MG), a highly reactive glycating agent predominantly produced during glycolysis—a metabolic pathway upregulated in cancer cells.
Dominga Manfredelli, Camilla Torcoli, Marilena Pariano, Guido Bellezza, Tiziano Baroni, Vincenzo N. Talesa, Angelo Sidoni, Cinzia Antognelli   +7 more
doaj   +2 more sources

Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view [PDF]

Frontiers in Neuroscience, 2023
Cerebral cavernous malformations (CCMs) are common vascular anomaly diseases in the central nervous system associated with seizures, cerebral microbleeds, or asymptomatic mostly.
Yanming Chen, Xuchen Dong, Ye Wang, Haijun Lv, Nan Chen, Zhongyong Wang, Si Chen, Ping Chen, Sheng Xiao, Jizong Zhao, Jizong Zhao, Jizong Zhao, Jun Dong   +12 more
doaj   +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, Alessandro Magini   +2 more
exaly   +3 more sources

Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation [PDF]

Graefe's Archive for Clinical and Experimental Ophthalmology, 2010
Retinal cavernous hemangiomas are rare vascular anomalies, and can be associated with cerebral cavernous malformations (CCM). Distinct mutations have been reported in patients who have both CCMs and retinal cavernous hemangiomas. Fluorescein angiography,
Shantan Reddy, Michael B. Gorin, Tara A. McCannel, Irena Tsui, Bradley R. Straatsma   +4 more
exaly   +4 more sources

Circumferential actomyosin bundles anchored by CCM1 drive endothelial cell contraction and vessel constriction [PDF]

Nature Communications
Blood vessels undergo extensive remodelling to acquire appropriate diameters, yet how endothelial cells coordinate changes in their number and shape to achieve this remains unclear.
Yan Chen, Nuria Taberner, Jason da Silva, Vivek Semwal, Biplab Bhattacherjee, Julia Eckert, Igor Kondrychyn, Mingzhao Hu, Nitish Aswani, Guihua Chen, Yasushi Okada, Anne Karine Lagendijk, Tatsuo Shibata, Satoru Okuda, Li-Kun Phng   +14 more
doaj   +2 more sources

KRIT1 heterozygous mutations are sufficient to induce a pathological phenotype in patient-derived iPSC models of cerebral cavernous malformation

Cell Reports
Summary: Cerebral cavernous malformation (CCM) is a neurovascular disease distinguished by clusters of leaky, mulberry-like blood vessels. KRIT1 bi-allelic loss-of-function mutations in endothelial cells are known to trigger brain cavernomas; however ...
Maximiliano Arce, Monica Corada, Francesca Lazzaroni   +2 more
exaly   +3 more sources

Initiation of lumen formation from junctions via differential actomyosin contractility regulated by dynamic recruitment of Rasip1 [PDF]

Nature Communications
De novo lumen formation necessitates the precise segregation of junctional proteins from apical surfaces, yet the underlying mechanisms remain unclear. Using a zebrafish model, we develop a series of molecular reporters, photo-convertible and optogenetic
Jianmin Yin, Niels Schellinx, Ludovico Maggi, Kathrin Gundel, Cora Wiesner, Maria Paraskevi Kotini, Minkyoung Lee, Li-Kun Phng, Heinz-Georg Belting, Markus Affolter   +9 more
doaj   +2 more sources