2005
Cerebral Venous Malformations Have Distinct Genetic Origin From Cerebral Cavernous Malformations
Guclu B, Ozturk AK, Pricola KL, Seker A, Ozek M, Gunel M. Cerebral Venous Malformations Have Distinct Genetic Origin From Cerebral Cavernous Malformations. Stroke 2005, 36: 2479-2480. PMID: 16239636, DOI: 10.1161/01.str.0000183616.99139.d3.Peer-Reviewed Original ResearchMeSH KeywordsApoptosis Regulatory ProteinsBlood VesselsCarrier ProteinsChildDNA Mutational AnalysisExonsFamily HealthFemaleFrameshift MutationGene Expression RegulationHumansIntracranial Arteriovenous MalformationsKRIT1 ProteinMaleMembrane ProteinsMicrotubule-Associated ProteinsModels, GeneticMutationPedigreeProto-Oncogene ProteinsConceptsMutational analysisCerebral cavernous malformationsDistinct genetic originsCCM genesCerebral venous malformationSuch mutationsCausative genesUnique familyFrameshift mutationGenesGenetic originCCM1 geneCommon originMutationsFamilyVenous malformationsPathogenetic mechanismsCavernous malformationsMembersDistinct biologyPDCD10BiologyExon 19KRIT1Different pathogenetic mechanisms
2002
KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein
Gunel M, Laurans MS, Shin D, DiLuna ML, Voorhees J, Choate K, Nelson-Williams C, Lifton RP. KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein. Proceedings Of The National Academy Of Sciences Of The United States Of America 2002, 99: 10677-10682. PMID: 12140362, PMCID: PMC125011, DOI: 10.1073/pnas.122354499.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsAortaCattleCells, CulturedCentral Nervous System Vascular MalformationsChlorocebus aethiopsCOS CellsEndothelium, VascularGene ExpressionMicrotubule-Associated ProteinsMicrotubulesMitosisMolecular Sequence DataMutagenesisPrecipitin TestsProto-Oncogene ProteinsRadiographyTubulinConceptsCerebral cavernous malformationsCavernous malformationsCerebral cavernous malformation lesionsMicrotubule-associated proteinsProtein-1 alphaAutosomal dominant diseaseEndothelial tube formationCerebral hemorrhageCerebral capillariesEndothelial cellsDominant diseaseMalformationsTube formationPlus endsSite of cytokinesisSpindle pole bodyEvidence of interactionGene 1Possible roleCell-matrix interactionsKRIT1Late phaseEnds of microtubulesEndothelial cell shapePole body