A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome.
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Multidrug resistance and cancer stem cells in neuroblastoma and hepatoblastomaDefining the blanks--pharmacochaperoning of SLC6 transporters and ABC transportersInter-domain communication mechanisms in an ABC importer: a molecular dynamics study of the MalFGK2E complexBeyond apoptosis: the mechanism and function of phosphatidylserine asymmetry in the membrane of activating mast cellsTransbilayer phospholipid movements in ABCA1-deficient cells.Inherited platelet disorders: thrombocytopenias and thrombocytopathies.Prediction of disease-related mutations affecting protein localization.Model system for the analysis of cell surface expression of human ABCA1.High-density lipoprotein: a novel target for antirestenosis therapyA genome-wide linkage scan in German shepherd dogs localizes canine platelet procoagulant deficiency (Scott syndrome) to canine chromosome 27.The Modifier of hemostasis (Mh) locus on chromosome 4 controls in vivo hemostasis of Gp6-/- mice.Diseases of intramembranous lipid transport.A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO.Dietary isoflavones differentially induce gene expression changes in lymphocytes from postmenopausal women who form equol as compared with those who do not.Structure and function of ABC transporters.Exclusion of ABCA-1 as a candidate gene for canine Scott syndrome.Phospholipid scramblase: an update.Advances in our understanding of the molecular basis of disorders of platelet function.Platelet membrane phospholipid asymmetry: from the characterization of a scramblase activity to the identification of an essential protein mutated in Scott syndrome.Congenital defects of platelet function.Allosteric transitions of the maltose transporter studied by an elastic network model.Extracellular Vesicles and Vascular Injury: New Insights for Radiation Exposure.Haplotype association and synergistic effect of human aldosterone synthase (CYP11B2) gene polymorphisms causing susceptibility to essential hypertension in Indian patients.Expression, localization, and functional model of cholesterol transporters in lactating and nonlactating mammary tissues of murine, bovine, and human origin.Profiling of ABC transporters during active ulcerative colitis and in vitro effect of inflammatory modulators.Conformational change of apolipoprotein A-I and HDL formation from model membranes under intracellular acidic conditions.Sphingosine 1-phosphate is released from the cytosol of rat platelets in a carrier-mediated manner.The ABC Transporter Eato Promotes Cell Clearance in the Drosophila melanogaster Ovary.ATP-binding cassette transporter 1 (ABCA1) deficiency decreases platelet reactivity and reduces thromboxane A2 production independently of hematopoietic ABCA1.
P2860
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P2860
A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome.
description
2005 nî lūn-bûn
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2005年の論文
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2005年学术文章
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name
A novel missense mutation in A ...... a patient with Scott syndrome.
@en
type
label
A novel missense mutation in A ...... a patient with Scott syndrome.
@en
prefLabel
A novel missense mutation in A ...... a patient with Scott syndrome.
@en
P2093
P1433
P1476
A novel missense mutation in A ...... a patient with Scott syndrome
@en
P2093
Alessandro Sardini
Andrew D Mumford
Christopher F Higgins
Edward G D Tuddenham
Ildiko Kasza
James I Elliott
Katalin Szabo
Rossi P Naoumova
P304
P356
10.1182/BLOOD-2004-05-2056
P407
P577
2005-03-24T00:00:00Z