about
Subcellular localization of antizyme inhibitor 2 in mammalian cells: Influence of intrinsic sequences and interaction with antizymesGPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.Amelioration of the severity of heparin-binding antithrombin mutations by posttranslational mosaicism.Identification of antithrombin-modulating genes. Role of LARGE, a gene encoding a bifunctional glycosyltransferase, in the secretion of proteins?Role of the C-sheet in the maturation of N-glycans on antithrombin: functional relevance of pleiotropic mutations.Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency.Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)Control of post-translational modifications in antithrombin during murine post-natal development by miR-200aUniparental disomy causes deficiencies of vitamin K-dependent proteins.The infective polymerization of conformationally unstable antithrombin mutants may play a role in the clinical severity of antithrombin deficiency.Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect.Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapyCorrection: Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).Correction: Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency.The induction of cardiac ornithine decarboxylase by β2 -adrenergic agents is associated with calcium channels and phosphorylation of ERK1/2.Proteomic analysis of platelet N-glycoproteins in PMM2-CDG patients.High incidence of FXI deficiency in a Spanish town caused by 11 different mutations and the first duplication of F11: Results from the Yecla study.Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.Recurrent mutations in a SERPINC1 hotspot associate with venous thrombosis without apparent antithrombin deficiency.First case with antithrombin deficiency, mesenteric vein thrombosis and pregnancy: Multidisciplinary diagnosis and successful management.Antithrombin Dublin (p.Val30Glu): a relatively common variant with moderate thrombosis risk of causing transient antithrombin deficiency.Congenital disorder of glycosylation (PMM2-CDG) in a patient with antithrombin deficiency and severe thrombophilia.A new method to quantify β-antithrombin glycoform in plasma reveals increased levels during the acute stroke eventCompound heterozygosity involving Antithrombin Cambridge II (p.Ala416Ser) in antithrombin deficiencyProtective role of antithrombin in mouse models of liver injuryRegulatory regions of SERPINC1 gene: Identification of the first mutation associated with antithrombin deficiencyA human antithrombin isoform dampens inflammatory responses and protects from organ damage during bacterial infectionElevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficienciesArcheogenetics of F11 p.Cys38Arg: a 5400-year-old mutation identified in different southwestern European countriesCongenital antithrombin deficiency in patients with splanchnic vein thrombosisIdentification of the first large intronic deletion responsible of type I antithrombin deficiency not detected by routine molecular diagnostic methodsALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant
P50
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P50
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hulumtuese
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researcher
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wetenschapper
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հետազոտող
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Maria Eugenia De La Morena-barrio
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Maria Eugenia De La Morena-barrio
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Maria Eugenia De La Morena-barrio
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Maria Eugenia De La Morena-barrio
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Maria Eugenia De La Morena-barrio
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Maria Eugenia De La Morena-barrio
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Maria Eugenia De La Morena-barrio
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Maria Eugenia De La Morena-barrio
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Maria Eugenia De La Morena-barrio
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Maria Eugenia De La Morena-barrio
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E de la Morena-Barrio
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Maria Eugenia De La Morena-barrio
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Maria Eugenia De La Morena-barrio
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Maria Eugenia De La Morena-barrio
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Maria Eugenia De La Morena-barrio
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Maria Eugenia De La Morena-barrio
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