Results 1 to 10 of about 1,815 (134)

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

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, Sara McCurdy, Wenqing Li, Mark K. Haynes, Preston Hale, Karol Francisco, Killian Oukoloff, Matthew Bautista, Chelsea H.J. Choi, Hao Sun, Brendan Gongol, John Y. Shyy, Carlo Ballatore, Larry A. Sklar, Alexandre R. Gingras   +14 more
doaj   +3 more sources

Case Report: A novel heterozygous nonsense mutation in KRIT1 cause hereditary cerebral cavernous malformation [PDF]

Frontiers in Oncology, 2023
Cerebral cavernous malformation (CCM) is a vascular malformation of the central nervous system and mainly characterized by enlarged capillary cavities without intervening brain parenchyma. Genetic studies have identified three disease-causing genes (CCM1/
Zhenxing Liu, Kaikai Guo, Xuebin Hu, Xianqin Zhang   +3 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 regulates the homeostasis of intracellular reactive oxygen species. [PDF]

PLoS ONE, 2010
KRIT1 is a gene responsible for Cerebral Cavernous Malformations (CCM), a major cerebrovascular disease characterized by abnormally enlarged and leaky capillaries that predispose to seizures, focal neurological deficits, and fatal intracerebral ...
Luca Goitre, Fiorella Balzac, Simona Degani, Paolo Degan, Saverio Marchi, Paolo Pinton, Saverio Francesco Retta   +6 more
doaj   +5 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

Epigenetic regulation by polycomb repressive complex 1 promotes cerebral cavernous malformations [PDF]

EMBO Molecular Medicine
Cerebral cavernous malformations (CCMs) are anomalies of the cerebral vasculature. Loss of the CCM proteins CCM1/KRIT1, CCM2, or CCM3/PDCD10 trigger a MAPK-Krüppel-like factor 2 (KLF2) signaling cascade, which induces a pathophysiological pattern of gene
Van-Cuong Pham, Claudia Jasmin Rödel, Mariaelena Valentino, Matteo Malinverno, Alessio Paolini, Juliane Münch, Candice Pasquier, Favour C Onyeogaziri, Bojana Lazovic, Romuald Girard, Janne Koskimäki, Melina Hußmann, Benjamin Keith, Daniel Jachimowicz, Franziska Kohl, Astrid Hagelkruys, Josef M Penninger, Stefan Schulte-Merker, Issam A Awad, Ryan Hicks, Peetra U Magnusson, Eva Faurobert, Massimiliano Pagani, Salim Abdelilah-Seyfried   +23 more
doaj   +2 more sources

Defining the functional domain of programmed cell death 10 through its interactions with phosphatidylinositol-3,4,5-trisphosphate. [PDF]

PLoS ONE, 2010
Cerebral cavernous malformations (CCM) are vascular abnormalities of the central nervous system predisposing blood vessels to leakage, leading to hemorrhagic stroke. Three genes, Krit1 (CCM1), OSM (CCM2), and PDCD10 (CCM3) are involved in CCM development.
Christopher F Dibble, Jeremy A Horst, Michael H Malone, Kun Park, Brenda Temple, Holly Cheeseman, Justin R Barbaro, Gary L Johnson, Sompop Bencharit   +8 more
doaj   +5 more sources

Proteomic Dynamics of Multidrug Resistance Mechanisms in Lucena 1 Cell Line [PDF]

Cells
The Lucena 1 cell line, derived from the human chronic myeloid leukemia cell line K562 under selective pressure of vincristine supplementation, exhibits multidrug resistance (MDR).
Emidio Beraldo-Neto, Fernanda Cardoso Amador, Karolina Rosa Fernandes, Giselle Zenker Justo, José Thalles Lacerda, Maria A. Juliano   +5 more
doaj   +2 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

A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds [PDF]

, 2017
Lobar cerebral microbleeds are most often sporadic and associated with Alzheimer's disease. The aim of our study was to identify the underlying genetic defect in a family with cognitive complaints and multiple lobar microbleeds and a positive family ...
Barkhof, F. (Frederik), Cohn-Hokke, P.E. (P.), Flier, W.M. (Wiesje) van der, Holstege, H. (Henne), Meijers-Heijboer, E.J. (Hanne), Pijnenburg, Y.A.L. (Yolande), Scheltens, P. (Philip), Sistermans, E.A. (Erik), Swieten, J.C. (John) van, Weiss, M.M. (Marjan M.)   +9 more
core   +4 more sources