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- Scott_syndrome abstract "Scott syndrome is a rare congenital bleeding disorder that is due to a defect in a platelet mechanism required for blood coagulation. When normal platelets are activated, as may occur at sites of vascular injury, phosphatidylserine (PS) in the inner leaflet of the platelet membrane is transported to the outer membrane surface of the platelet, where it provides a binding site for plasma protein complexes, such as factor VIIIa-IXa (tenase) and factor Va-Xa (prothrombinase), that are involved in the conversion of prothrombin to thrombin. In Scott syndrome, the mechanism for translocating PS to the platelet membrane is defective, resulting in impaired thrombin formation. A similar defect in PS translocation has also been demonstrated in Scott syndrome red blood cells and Epstein-Barr virus transformed lymphocytes, suggesting that the defect in Scott syndrome reflects a mutation in a stem cell that affects multiple hematological lineages. The basis for the defect in PS translocation is, at present, unknown. A candidate protein, scramblase, that may be involved in this process appears to be normal in Scott syndrome platelets. Other possible defects in PS translocation, reported in some patients, require further study. The initially reported patient with Scott Syndrome has been found to have a mutation at a splice-acceptor site of the gene encoding transmembrane protein 16F (TMEM16F)[9]. At present, the only treatment for episodes of bleeding is the transfusion of normal platelets.".
- Scott_syndrome wikiPageID "17727686".
- Scott_syndrome wikiPageRevisionID "534696887".
- Scott_syndrome hasPhotoCollection Scott_syndrome.
- Scott_syndrome subject Category:Coagulopathies.
- Scott_syndrome subject Category:Genetic_disorders_with_no_OMIM.
- Scott_syndrome subject Category:Rare_diseases.
- Scott_syndrome type Abstraction100002137.
- Scott_syndrome type Attribute100024264.
- Scott_syndrome type BloodDisease114189204.
- Scott_syndrome type BloodDisorders.
- Scott_syndrome type BloodDyscrasia114053850.
- Scott_syndrome type Condition113920835.
- Scott_syndrome type Disease114070360.
- Scott_syndrome type Dyscrasia114053717.
- Scott_syndrome type GeneticDisease114151139.
- Scott_syndrome type GeneticDisordersWithNoOMIM.
- Scott_syndrome type IllHealth114052046.
- Scott_syndrome type Illness114061805.
- Scott_syndrome type PathologicalState114051917.
- Scott_syndrome type PhysicalCondition114034177.
- Scott_syndrome type State100024720.
- Scott_syndrome comment "Scott syndrome is a rare congenital bleeding disorder that is due to a defect in a platelet mechanism required for blood coagulation.".
- Scott_syndrome label "Scott syndrome".
- Scott_syndrome sameAs m.047dt7x.
- Scott_syndrome sameAs Q7437571.
- Scott_syndrome sameAs Q7437571.
- Scott_syndrome sameAs Scott_syndrome.
- Scott_syndrome wasDerivedFrom Scott_syndrome?oldid=534696887.
- Scott_syndrome isPrimaryTopicOf Scott_syndrome.