about
Novelties in the Diagnosis and Treatment of AngioedemaUnexpected crucial role of residue 225 in serine proteasesHuman neuroserpin: structure and time-dependent inhibitionThe expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: functional and structural correlates.Embelin binds to human neuroserpin and impairs its polymerisation.First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progress.Diagnosis, Course, and Management of Angioedema in Patients With Acquired C1-Inhibitor Deficiency.Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen γ-module.The stability and activity of human neuroserpin are modulated by a salt bridge that stabilises the reactive centre loop.The spectrum of factor XI deficiency in Italy.Antibodies to tissue-type plasminogen activator (tPA) in patients with antiphospholipid syndrome: evidence of interaction between the antibodies and the catalytic domain of tPA in 2 patients.Molecular dissection of Na+ binding to thrombin.Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structural Insight.Molecular bases of neuroserpin function and pathology.The kinetics of the reaction between NO and O2 as studied by a novel approachInteraction of C1 inhibitor with thrombin on the endothelial surfaceAntibodies to tissue-type plasminogen activator (t-PA) in patients with inflammatory bowel disease: high prevalence, interactions with functional domains of t-PA and possible implications in thrombosisAnalysis of the structural effects of four novel and a previously known mutations causing factor XI deficiencyHereditary angioedema in a Jordanian family with a novel missense mutation in the C1-inhibitor N-terminal domainPathophysiology of Hereditary AngioedemaThe Anticoagulant Thrombin Mutant W215A/E217A Has a Collapsed Primary Specificity PocketModulation of the Association Reaction between Hemoglobin and Carbon Monoxide by Proton and Chloride†Current and emerging biologics for the treatment of hereditary angioedemaA transcriptomics study of hereditary angioedema attacksRecombinant human C1 esterase inhibitor (Conestat alfa) for prophylaxis to prevent attacks in adult and adolescent patients with hereditary angioedemaAcid Sphingomyelinase Downregulation Enhances Mitochondrial Fusion and Promotes Oxidative Metabolism in a Mouse Model of Melanoma
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description
hulumtuese
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հետազոտող
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Sonia Caccia
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Sonia Caccia
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Sonia Caccia
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Sonia Caccia
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Sonia Caccia
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Sonia Caccia
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Sonia Caccia
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Sonia Caccia
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Sonia Caccia
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Sonia Caccia
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P1053
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P1153
7005086002
P21
P31
P3829
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0000-0003-0829-5379