Matches in SemOpenAlex for { <https://semopenalex.org/work/W2130998538> ?p ?o ?g. }
Showing items 1 to 84 of
84
with 100 items per page.
- W2130998538 endingPage "874" @default.
- W2130998538 startingPage "872" @default.
- W2130998538 abstract "Background and Purpose— Cerebral cavernous malformations (CCMs) are focal dysmorphic blood vessel anomalies that predispose patients to hemorrhagic stroke and epilepsy. CCMs are sporadic or inherited and 3 genes ( CCM1 , CCM2 , and CCM3 ) have been identified. However, the role of somatic mutation in CCM genesis has been disputed. The hypothesis that somatic mutations contribute to CCM lesion genesis is tested. Methods— Mutations were identified by analysis of polymerase chain reaction (PCR) products spanning the 16 CCM1 coding exons with denaturing high-pressure liquid chromatography (DHPLC), cloning, and sequencing. Somatic mutation was verified 3 ways in lesion DNA and RNA samples. The somatic and germ line mutations were shown to be biallelic using allele specific reverse-transcribed PCR amplification and sequence analyses. Results— A somatic 34-nucleotide deletion in CCM1 is identified in a CCM lesion along with a germ line CCM1 mutation (Q455X). The somatic mutation is not present in DNA or RNA isolated from the patient’s blood. These 2 genetic hits are biallelic. Conclusions— Identification of biallelic CCM1 somatic and germ line truncating mutations strongly support the “two-hit” mechanism in this CCM lesion." @default.
- W2130998538 created "2016-06-24" @default.
- W2130998538 creator A5049334372 @default.
- W2130998538 creator A5050082012 @default.
- W2130998538 creator A5084424783 @default.
- W2130998538 creator A5087790193 @default.
- W2130998538 date "2005-04-01" @default.
- W2130998538 modified "2023-10-17" @default.
- W2130998538 title "Biallelic Somatic and Germ Line <i>CCM1</i> Truncating Mutations in a Cerebral Cavernous Malformation Lesion" @default.
- W2130998538 cites W1498002772 @default.
- W2130998538 cites W1963865515 @default.
- W2130998538 cites W1992257535 @default.
- W2130998538 cites W2003956601 @default.
- W2130998538 cites W2040730746 @default.
- W2130998538 cites W2053032977 @default.
- W2130998538 cites W2109567810 @default.
- W2130998538 doi "https://doi.org/10.1161/01.str.0000157586.20479.fd" @default.
- W2130998538 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15718512" @default.
- W2130998538 hasPublicationYear "2005" @default.
- W2130998538 type Work @default.
- W2130998538 sameAs 2130998538 @default.
- W2130998538 citedByCount "149" @default.
- W2130998538 countsByYear W21309985382012 @default.
- W2130998538 countsByYear W21309985382013 @default.
- W2130998538 countsByYear W21309985382014 @default.
- W2130998538 countsByYear W21309985382015 @default.
- W2130998538 countsByYear W21309985382016 @default.
- W2130998538 countsByYear W21309985382017 @default.
- W2130998538 countsByYear W21309985382018 @default.
- W2130998538 countsByYear W21309985382019 @default.
- W2130998538 countsByYear W21309985382020 @default.
- W2130998538 countsByYear W21309985382021 @default.
- W2130998538 countsByYear W21309985382022 @default.
- W2130998538 countsByYear W21309985382023 @default.
- W2130998538 crossrefType "journal-article" @default.
- W2130998538 hasAuthorship W2130998538A5049334372 @default.
- W2130998538 hasAuthorship W2130998538A5050082012 @default.
- W2130998538 hasAuthorship W2130998538A5084424783 @default.
- W2130998538 hasAuthorship W2130998538A5087790193 @default.
- W2130998538 hasBestOaLocation W21309985381 @default.
- W2130998538 hasConcept C104317684 @default.
- W2130998538 hasConcept C134305767 @default.
- W2130998538 hasConcept C13514818 @default.
- W2130998538 hasConcept C142724271 @default.
- W2130998538 hasConcept C153911025 @default.
- W2130998538 hasConcept C2781156865 @default.
- W2130998538 hasConcept C36823959 @default.
- W2130998538 hasConcept C501734568 @default.
- W2130998538 hasConcept C54355233 @default.
- W2130998538 hasConcept C71924100 @default.
- W2130998538 hasConcept C86803240 @default.
- W2130998538 hasConceptScore W2130998538C104317684 @default.
- W2130998538 hasConceptScore W2130998538C134305767 @default.
- W2130998538 hasConceptScore W2130998538C13514818 @default.
- W2130998538 hasConceptScore W2130998538C142724271 @default.
- W2130998538 hasConceptScore W2130998538C153911025 @default.
- W2130998538 hasConceptScore W2130998538C2781156865 @default.
- W2130998538 hasConceptScore W2130998538C36823959 @default.
- W2130998538 hasConceptScore W2130998538C501734568 @default.
- W2130998538 hasConceptScore W2130998538C54355233 @default.
- W2130998538 hasConceptScore W2130998538C71924100 @default.
- W2130998538 hasConceptScore W2130998538C86803240 @default.
- W2130998538 hasIssue "4" @default.
- W2130998538 hasLocation W21309985381 @default.
- W2130998538 hasLocation W21309985382 @default.
- W2130998538 hasOpenAccess W2130998538 @default.
- W2130998538 hasPrimaryLocation W21309985381 @default.
- W2130998538 hasRelatedWork W1546418417 @default.
- W2130998538 hasRelatedWork W182834720 @default.
- W2130998538 hasRelatedWork W2015388398 @default.
- W2130998538 hasRelatedWork W2060169551 @default.
- W2130998538 hasRelatedWork W2068932327 @default.
- W2130998538 hasRelatedWork W2079252064 @default.
- W2130998538 hasRelatedWork W2157752040 @default.
- W2130998538 hasRelatedWork W2417766600 @default.
- W2130998538 hasRelatedWork W2613868166 @default.
- W2130998538 hasRelatedWork W2762413087 @default.
- W2130998538 hasVolume "36" @default.
- W2130998538 isParatext "false" @default.
- W2130998538 isRetracted "false" @default.
- W2130998538 magId "2130998538" @default.
- W2130998538 workType "article" @default.