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Details on Person FVIII C1, C2 domain variants [extracellular region]

Class:IdCandidateSet:9665831
_displayNameFVIII C1, C2 domain variants [extracellular region]
_timestamp2019-12-06 01:35:22
compartment[Compartment:984] extracellular region
created[InstanceEdit:9665826] Shamovsky, Veronica, 2019-11-01
disease[Disease:9661959] factor VIII deficiency
hasCandidate
hasMember
literatureReference[LiteratureReference:9665814] Storage of factor VIII variants with impaired von Willebrand factor binding in Weibel-Palade bodies in endothelial cells
[LiteratureReference:9665800] Deletion of alanine 2201 in the FVIII C2 domain results in mild hemophilia A by impairing FVIII binding to VWF and phospholipids and destroys a major FVIII antigenic determinant involved in inhibitor development
[LiteratureReference:9665821] Surface-exposed hemophilic mutations across the factor VIII C2 domain have variable effects on stability and binding activities
[LiteratureReference:9662340] A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor
[LiteratureReference:9665840] Mild hemophilia A patient with novel Pro1809Leu mutation develops an anti-C2 antibody inhibiting allogeneic but not autologous factor VIII activity
[LiteratureReference:9665796] Some factor VIII (FVIII) inhibitors recognise a FVIII epitope(s) that is present only on FVIII-vWF complexes
[LiteratureReference:9667091] A human antibody directed to the factor VIII C1 domain inhibits factor VIII cofactor activity and binding to von Willebrand factor
[LiteratureReference:9665833] Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure
modified[InstanceEdit:9666379] Shamovsky, Veronica, 2019-11-05
[InstanceEdit:9667115] Shamovsky, Veronica, 2019-11-07
[InstanceEdit:9668160] Shamovsky, Veronica, 2019-11-19
[InstanceEdit:9670169] Shamovsky, Veronica, 2019-12-06
nameFVIII C1, C2 domain variants
F8 variants with mutations in the C1, C2 domains
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9665853] R-HSA-9665831.1
summation[Summation:9666380] Set of F8 variants in HEMA patients that showed reduced bind...
(hasComponent)[Complex:9665818] F8 C1,C2 domains variants [extracellular region] [Homo sapiens]
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