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Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 08/2010, Volume 120, Issue 8, pp. 2795 - 2804
Journal Article
Molecular Biology of the Cell, ISSN 1059-1524, 07/2011, Volume 22, Issue 14, pp. 2509 - 2519
Activation of Rap1 small GTPases stabilizes cell-cell junctions, and this activity requires Krev Interaction Trapped gene 1 (KRIT1). Loss of KRIT1 disrupts... 
ENCODING KRIT1 | PATHOGENESIS | CEREBRAL CAVERNOUS MALFORMATIONS | AUTOMATED PROTEIN-STRUCTURE | RAP1 | BARRIER FUNCTION | BINDING-PROTEIN | CCM1 | I-TASSER | STRUCTURE PREDICTION | CELL BIOLOGY | Microtubule-Associated Proteins - chemistry | KRIT1 Protein | Microtubule-Associated Proteins - genetics | rap1 GTP-Binding Proteins - chemistry | Microtubule-Associated Proteins - metabolism | Humans | Proto-Oncogene Proteins - chemistry | Structure-Activity Relationship | Microtubules - metabolism | HEK293 Cells | Muscle Proteins - metabolism | Muscle Proteins - physiology | Umbilical Veins - cytology | Endothelial Cells - physiology | Protein Structure, Tertiary | Proto-Oncogene Proteins - metabolism | rap1 GTP-Binding Proteins - metabolism | Gene Expression | Signal Transduction | Zebrafish Proteins - chemistry | Cardiovascular System - growth & development | Endothelial Cells - metabolism | Zebrafish Proteins - metabolism | Intercellular Junctions - metabolism | Proto-Oncogene Proteins - genetics | Monomeric GTP-Binding Proteins - genetics | Intercellular Junctions - genetics | Zebrafish - growth & development | Zebrafish - genetics | Zebrafish Proteins - physiology | Muscle Proteins - genetics | Animals | Cardiovascular System - metabolism | Monomeric GTP-Binding Proteins - metabolism | Microtubules - genetics | Monomeric GTP-Binding Proteins - chemistry | Zebrafish - metabolism | Protein Conformation | RNA, Small Interfering | Zebrafish Proteins - genetics | Genetic Vectors | rap1 GTP-Binding Proteins - genetics
Journal Article
Human Mutation, ISSN 1059-7794, 2009, Volume 30, Issue 6, pp. 1003 - 1011
Cerebral cavernous malformations (CCMs) may cause recurrent headaches, seizures, and hemorrhagic stroke and have been associated with loss-of-function... 
cerebral cavernous malformation | CCM3 | MST4 | CCM2 | PDCD10 | STK25 | Cerebral cavernous malformation | APOPTOSIS | ACTIVATION | CCM3 MUTATIONS | 20-LIKE KINASE-3 MST3 | CARDIOVASCULAR-SYSTEM | GOLGI | PATHOGENESIS | PATHWAY | CELL-MIGRATION | GENETICS & HEREDITY | KRIT1 | Sequence Deletion | Phosphorylation | KRIT1 Protein | Microtubule-Associated Proteins - metabolism | Heart - embryology | Humans | Intracellular Signaling Peptides and Proteins - metabolism | Proto-Oncogene Proteins - chemistry | Amino Acids - genetics | Zebrafish - embryology | Gene Knockdown Techniques | Apoptosis Regulatory Proteins - genetics | Cardiovascular Abnormalities - metabolism | Membrane Proteins - metabolism | Frameshift Mutation - genetics | Protein-Serine-Threonine Kinases - metabolism | Protein Structure, Tertiary | Proto-Oncogene Proteins - metabolism | Cell Line | Zebrafish Proteins - chemistry | Membrane Proteins - genetics | Apoptosis Regulatory Proteins - chemistry | Exons - genetics | Proto-Oncogene Proteins - genetics | Cardiovascular Abnormalities - embryology | Phosphoserine - metabolism | Phosphothreonine - metabolism | Zebrafish - genetics | Apoptosis Regulatory Proteins - metabolism | Protein Interaction Mapping | Phenotype | Animals | Carrier Proteins - metabolism | Membrane Proteins - chemistry | Protein Binding | Zebrafish Proteins - genetics
Journal Article
Nature, ISSN 0028-0836, 2013, Volume 498, Issue 7455, pp. 492 - 496
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 04/2010, Volume 207, Issue 4, pp. 881 - 896
Endothelial cell-cell junctions regulate vascular permeability, vasculogenesis, and angiogenesis. Familial cerebral cavernous malformations (CCMs) in humans... 
CELL PERMEABILITY | PATHOGENESIS | MEDICINE, RESEARCH & EXPERIMENTAL | IMMUNE-RESPONSE | P38 MAPK ACTIVATION | ACUTE LUNG INJURY | VE-CADHERIN | CCM2 | IMMUNOLOGY | 2-HIT MECHANISM | BRAIN | ENDOTHELIAL BARRIER FUNCTION | RNA, Small Interfering - genetics | Humans | Capillary Permeability - drug effects | Endothelium, Vascular - drug effects | rhoA GTP-Binding Protein - metabolism | Animal Structures - blood supply | Mutation - physiology | Phosphorylation - genetics | rho-Associated Kinases - metabolism | Edema, Cardiac - pathology | Phosphorylation - drug effects | Endothelial Cells - metabolism | 1-(5-Isoquinolinesulfonyl)-2-Methylpiperazine - therapeutic use | Hemangioma, Cavernous, Central Nervous System - drug therapy | Edema, Cardiac - genetics | Hemangioma, Cavernous, Central Nervous System - pathology | Signal Transduction - drug effects | Endothelium, Vascular - metabolism | Endothelium, Vascular - pathology | Mice | Myosin Light Chains - metabolism | Animal Structures - metabolism | Protein Binding - physiology | Capillary Permeability - physiology | KRIT1 Protein | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | 1-(5-Isoquinolinesulfonyl)-2-Methylpiperazine - analogs & derivatives | Hemangioma, Cavernous, Central Nervous System - metabolism | rho-Associated Kinases - antagonists & inhibitors | Brain Edema - genetics | Edema, Cardiac - drug therapy | Mice, Mutant Strains | Pulmonary Edema - pathology | Microfilament Proteins - metabolism | Microfilament Proteins - genetics | Proto-Oncogene Proteins - metabolism | Pulmonary Edema - genetics | Brain Edema - pathology | Mice, Inbred C57BL | Proto-Oncogene Proteins - genetics | Carrier Proteins - genetics | Animals | Carrier Proteins - metabolism | Protein Kinase Inhibitors - therapeutic use | 1-(5-Isoquinolinesulfonyl)-2-Methylpiperazine - pharmacology | Signal Transduction - physiology | Brain Edema - drug therapy | Protein Kinase Inhibitors - pharmacology | Endothelial Cells - drug effects
Journal Article
Experimental Cell Research, ISSN 0014-4827, 2009, Volume 315, Issue 2, pp. 285 - 303
is a disease gene responsible for Cerebral Cavernous Malformations (CCM). It encodes for a protein containing distinct protein–protein interaction domains,... 
Rap1A | Yeast two-hybrid interaction | Head-to-tail protein interaction | Nucleocytoplasmic shuttling | Homology modeling | KRIT1 | Ligand docking | CCM | ICAP1 | FERM domain | PTB DOMAINS | MERLIN | CRYSTAL-STRUCTURE | BINDING-PROTEIN | ANKYRIN REPEAT | CELL BIOLOGY | ENCODING KRIT1 | CEREBRAL CAVERNOUS MALFORMATIONS | PROTEIN INTERACTIONS | ONCOLOGY | NEUROFIBROMATOSIS TYPE-2 | Microtubule-Associated Proteins - chemistry | KRIT1 Protein | Microtubule-Associated Proteins - genetics | rap1 GTP-Binding Proteins - chemistry | Protein Interaction Domains and Motifs - physiology | Humans | Cercopithecus aethiops | Central Nervous System Vascular Malformations - genetics | Intracellular Signaling Peptides and Proteins - metabolism | Proto-Oncogene Proteins - chemistry | Recombinant Fusion Proteins - metabolism | Hemangioma, Cavernous, Central Nervous System - genetics | Protein Interaction Domains and Motifs - genetics | Protein Isoforms - chemistry | Computer Simulation | Microfilament Proteins - metabolism | Intracellular Signaling Peptides and Proteins - genetics | Microfilament Proteins - genetics | Peptide Fragments - genetics | Cell Line | rap1 GTP-Binding Proteins - metabolism | Peptide Fragments - metabolism | Protein Structure, Secondary | Hemangioma, Cavernous, Central Nervous System - physiopathology | Models, Molecular | Rats | Proto-Oncogene Proteins - genetics | Recombinant Fusion Proteins - chemistry | Protein Isoforms - physiology | Microtubule-Associated Proteins - physiology | Point Mutation | Two-Hybrid System Techniques | Peptide Fragments - chemistry | Animals | Proto-Oncogene Proteins - physiology | Protein Binding | Recombinant Fusion Proteins - genetics | Mice | Central Nervous System Vascular Malformations - physiopathology | HeLa Cells | COS Cells | rap1 GTP-Binding Proteins - genetics | Protein Isoforms - genetics | Proteins | Models | Genetic disorders | Cellular biology | Binding sites | PROTEIN STRUCTURE | HYBRIDIZATION | IN VIVO | SIMULATION | 60 APPLIED LIFE SCIENCES | PATHOGENESIS | SPLICING | MALFORMATIONS | LIGANDS | STRUCTURE FUNCTIONS | BIOLOGY | YEASTS | PROTEINS
Journal Article
Neurogenetics, ISSN 1364-6745, 11/2007, Volume 8, Issue 4, pp. 249 - 256
Individuals carrying a mutation in one of the three cerebral cavernous malformation genes (CCM1/KRIT1, CCM2, CCM3) cannot be clinically distinguished, raising... 
Human Genetics | FAP-1 | Neurosciences | Biomedicine | STK25 | Cerebral cavernous malformation | CCM3 | Molecular Medicine | CCM2 | cerebral cavernous malformation | ACTIVATION | KINASE | CLINICAL NEUROLOGY | PROTEIN INTERACTIONS | PATHWAY | GROWTH | GENETICS & HEREDITY | KRIT1 | EXPRESSION | TRUNCATING MUTATIONS | Phosphorylation | Humans | Protein Tyrosine Phosphatase, Non-Receptor Type 13 - metabolism | Molecular Sequence Data | Proto-Oncogene Proteins - chemistry | Recombinant Fusion Proteins - metabolism | Hemangioma, Cavernous, Central Nervous System - genetics | Hemangioma, Cavernous, Central Nervous System - metabolism | Hemangioma, Cavernous, Central Nervous System - etiology | Apoptosis Regulatory Proteins - genetics | Germ-Line Mutation | Carrier Proteins - chemistry | Membrane Proteins - metabolism | Protein Tyrosine Phosphatase, Non-Receptor Type 13 - genetics | Protein-Serine-Threonine Kinases - metabolism | Proto-Oncogene Proteins - metabolism | Amino Acid Sequence | Cell Line | Protein Structure, Secondary | Signal Transduction | Membrane Proteins - genetics | Apoptosis Regulatory Proteins - chemistry | Protein-Serine-Threonine Kinases - genetics | Intracellular Signaling Peptides and Proteins | Proto-Oncogene Proteins - genetics | Apoptosis Regulatory Proteins - metabolism | Protein Interaction Mapping | Sequence Homology, Amino Acid | Carrier Proteins - genetics | Two-Hybrid System Techniques | Carrier Proteins - metabolism | Membrane Proteins - chemistry | Protein Binding | Recombinant Fusion Proteins - genetics | In Vitro Techniques | Proteins | Neurology | Signal transduction | Genetics | Mutation | Kinases | Binding sites
Journal Article
Free Radical Biology and Medicine, ISSN 0891-5849, 02/2018, Volume 115, pp. 202 - 218
( ) is a disease gene responsible for Cerebral Cavernous Malformations (CCM), a major cerebrovascular disease of proven genetic origin affecting 0.3–0.5% of... 
Oxidative stress | Heme oxygenase-1 (HO-1) | Argpyrimidine-modified heat-shock proteins | Redox signaling | Cerebral Cavernous Malformations | Antioxidant defense | Glyoxalase 1 (Glo1) | c-Jun | Oxidative DNA damage and apoptosis | Nuclear factor erythroid 2-related factor 2 (Nrf2) | Adaptive redox homeostasis | CCM1/KRIT1 | Cerebrovascular disease | GLYCATION END-PRODUCT | GLYOXALASE I | METHYLGLYOXAL MODIFICATION | ARGPYRIMIDINE-MODIFIED HSP70 | ENDOCRINOLOGY & METABOLISM | NF-KAPPA-B | AORTIC ENDOTHELIAL-CELLS | BIOCHEMISTRY & MOLECULAR BIOLOGY | CRYSTALLINE SILICA | DEFENSE PATHWAY | SIGNALING PATHWAY | VASCULAR INTEGRITY | Humans | Homeostasis | Hemangioma, Cavernous, Central Nervous System - genetics | Hemangioma, Cavernous, Central Nervous System - metabolism | Pyruvaldehyde - metabolism | Autophagy - genetics | Endothelial Cells - physiology | Central Nervous System Neoplasms - metabolism | Oxidation-Reduction | Lactoylglutathione Lyase - metabolism | Central Nervous System Neoplasms - genetics | KRIT1 Protein - metabolism | Cells, Cultured | Oxidative Stress - genetics | KRIT1 Protein - genetics | Mutation - genetics | HSP70 Heat-Shock Proteins - metabolism | Mice, Knockout | Animals | NF-E2-Related Factor 2 - metabolism | Brain - pathology | HSP27 Heat-Shock Proteins - metabolism | Mice | Protein Processing, Post-Translational | Apoptosis | Antioxidants | Proteins | Brain | Heme | Heat shock proteins | PTM, post-translational modification | hBMEC, human brain microvascular endothelial cells | Casp-3, Caspase-3 | COX-2, cycloxygenase-2 | BBB, blood-brain barrier | NVU, neurovascular unit | Cyt c, cytochrome c | ICH, intracerebral hemorrhage | MG, methylglyoxal | HO-1, Heme oxygenase-1 | CCM, Cerebral Cavernous Malformation | AP, argpyrimidine (Nẟ-(5-hydroxy-4,6-dimethylpyrimidine-2-yl)-l-ornithine) | Glo1, Glyoxalase 1 | ARE, antioxidant-response element | KRIT1 | ROS, reactive oxygen species | KRIT1, Krev interaction trapped 1 | AGEs, advanced glycation end-products | TUNEL, TdT-mediated dUTP nick-end labeling | EndMT, endothelial-to-mesenchymal transition | Nrf2, nuclear factor erythroid 2-related factor 2 | Keap1, Kelch-like ECH-associated protein 1 | SOD, superoxide dismutase | Hsp, heat-shock protein | CNS, central nervous system | JNK, c-Jun NH2-terminal kinase | MEF, mouse embryonic fibroblast | CCM1
Journal Article
Journal Article
Stroke, ISSN 0039-2499, 05/2015, Volume 46, Issue 5, pp. 1337 - 1343
Journal Article
The FEBS Journal, ISSN 1742-464X, 03/2010, Volume 277, Issue 5, pp. 1084 - 1096
Cerebral cavernous malformations (CCM) are common vascular malformations with an unpredictable risk of hemorrhage, the consequences of which range from... 
blood brain barrier | cytoskeleton | angiogenesis | endothelial cell | Krit1 | cadherin | HEG | CCM | integrin | hemorrhage | Angiogenesis | Endothelial cell | Integrin | Cytoskeleton | Cadherin | Blood brain barrier | Hemorrhage | CYTOPLASMIC DOMAIN | FIBRONECTIN FIBRILLOGENESIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | BINDING-PROTEIN | BLOOD-BRAIN-BARRIER | VASCULAR MORPHOGENESIS | ENDOTHELIAL-CELLS | IN-VIVO | EXTRACELLULAR-MATRIX | DOMAIN-ASSOCIATED PROTEIN-1 | LUMEN FORMATION | Proto-Oncogene Proteins - metabolism | rap1 GTP-Binding Proteins - metabolism | Cell-Matrix Junctions - physiology | KRIT1 Protein | Microtubule-Associated Proteins - genetics | Signal Transduction | Microtubule-Associated Proteins - metabolism | Humans | Hemangioma, Cavernous, Central Nervous System - physiopathology | Proto-Oncogene Proteins - genetics | Hemangioma, Cavernous, Central Nervous System - genetics | Hemangioma, Cavernous, Central Nervous System - metabolism | Microfilament Proteins - metabolism | Microfilament Proteins - genetics | Brain | Endothelium | Integrins | Proteins | Neurology | Biochemistry | Hemangioma, Cavernous, Central Nervous System | physiopathology | genetics | Microfilament Proteins | rap1 GTP-Binding Proteins | physiology | Microtubule-Associated Proteins | metabolism | Proto-Oncogene Proteins | Cell-Matrix Junctions
Journal Article