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Sequence variants and haplotypes of the factor IX gene and the risk of venous thrombosis
Author(s) -
VAN MINKELEN R.,
DE VISSER M. C. H.,
VAN HYLCKAMA VLIEG A.,
VOS H. L.,
BERTINA R. M.
Publication year - 2008
Publication title -
journal of thrombosis and haemostasis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.947
H-Index - 178
eISSN - 1538-7836
pISSN - 1538-7933
DOI - 10.1111/j.1538-7836.2008.03066.x
Subject(s) - single nucleotide polymorphism , genetics , haplotype , venous thrombosis , factor ix , factor v , population , thrombophilia , biology , thrombosis , medicine , gene , genotype , environmental health
2 Martinez MC, Freyssinet JM. Deciphering the plasma membranehallmarks of apoptotic cells: phospha tidylserine transverse redistribu-tion and calcium entry. BMC Cell Biol 2001; 2: 20.3 Zwaal RF, Comfurius P, Bevers EM. Surface exposure of phospha-tidylserine in pathological cells. Cell Mol Life Sci 2005; 62: 971–88.4 KolMA,de KruijB,deKroonAI.Phospholipidip-opinbiogenicmembranes: what is needed to connect opposite sides. Semin Cell DevBiol 2002; 13: 163–70.5 Sims PJ, Wiedmer T. Unraveling t he mysteries of phospholipidscrambling. Thromb Haemost 2001; 86: 266–75.6 Albrecht C, McVey JH, Elliott JI, Sardini A, Kasza I, Mumford AD,Naoumova RP, Tuddenham EG, Szabo K, Higgins CF. A novelmissense mutation in ABCA1 results in altered protein tracking andreduced phosphatidylserine translocation in a patient with Scott syn-drome. Blood 2005; 106: 542–9.7 OrsoE,BroccardoC,KaminskiWE, BottcherA,LiebischG,DrobnikW, Gotz A, Chambenoit O, Diederich W, Langmann T, Spruss T,Luciani MF, Rothe G, Lackner KJ, Chimini G, Schmitz G. Transportof lipids from golgi to plasma membr ane is defective in tangier diseasepatients and Abc1-decient mice. Nat Genet 2000; 24: 192–6.8 Zarubica A, Trompier D, Chimini G. ABCA1, from pathology tomembrane function. Pugers Arch 2007; 453: 569–79.9 Brooks MB, Catalfamo JL, Brown HA, Ivanova P, Lovaglio J. Ahereditary bleeding disorder of dogs caused by a lack of plateletprocoagulant activity. Blood 2002; 99: 2434–41.10 Toti F, Satta N, Fressinaud E, Me yer D, Freyssinet JM. Scott syn-drome, characterized by impaire d transmembrane migration ofprocoagulant phosphatidylserine and hemorrhagic complications, isan inherited disorder. Blood 1996; 87: 1409–15.11 Boudreaux MK, Catalfamo JL, Klok M. Calcium-diacylglycerolguanine nucleotide exchange factor I gene mutations associated withloss of function in canine platelets. Transl Res 2007; 150: 81–92.12 Nofer JR, Herminghaus G, Brodde M, Morgenstern E, Rust S, EngelT, Seedorf U, Assmann G, Bluethmann H, Kehrel BE. Impairedplatelet activation in familial high density lipoprotein deciency(Tangier disease). JBiolChem2004; 279: 34032–7.13 SchmitzG,SchambeckCM.MoleculardefectsintheABCA1pathwayaect platelet function. Pathophysiol Haemost Thromb 2006; 35:166–74.14 Gordon N, Thom J, Cole C, Baker R . Rapid detection of hereditaryand acquired platelet storage pool deciency by ow cytometry. Br JHaematol 1995; 89: 117–23.15 Klinkhardt U, Harder S. Flow cyto metric measurement of platelet-leukocyte aggregates: a possible target to monitor platelet function?Semin Thromb Hemost 2005; 31: 400–3.16 WeissHJ,VicicWJ,LagesBA,RogersJ.Isolateddeciencyofplateletprocoagulant activity. Am J Med 1979; 67: 206–13.17 ClarkLA,TsaiKL,SteinerJM,WilliamsDA,GuerraT,OstranderEA,GalibertF,MurphyKE.Chromosome- specicmicrosatellitemultiplexsets for linkage studies in the domestic dog. Genomics 2004; 84: 550–4.18 Ott J. Computer-simulation methods in human linkage analysis. ProcNatl Acad Sci U S A 1989; 86: 4175–8.19 Neufeld EB, Stonik JA, Demosky SJ Jr, Knapper CL, Combs CA,Cooney A, Comly M, Dwyer N, Blanchette-Mackie J, RemaleyAT, Santamarina-Fojo S, Brewer HB Jr. The ABCA1 transportermodulates late endocytic tracking: insights from the correction ofthe genetic defect in Tangier disease. JBiolChem2004; 279:15571–8.