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Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2
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Genetic variants in the exon1 of MBL gene per se are not risk factors for Systemic lupus erythematosus (SLE) in South Indian Tamils. However, the association of codon 54 (rs1800450) with medium vessel vasculitis suggests that it may be a genetic modifier of clinical phenotype in SLE.
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Mannan-binding lectin reduces CpG DNA-induced inflammatory cytokine production in monocytes.
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MMP-9 secretion was reduced in the LMAN1 knockout cell line compared to control cells confirming the functional role of LMAN1.
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Authors identified a class of pathogen-derived ERGIC-53 ligands, a lectin-independent basis for their association with ERGIC-53, and a role for ERGIC-53 in the propagation of several highly pathogenic RNA virus families.
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Studies indicate that the LMAN1-CRD contains distinct, separable binding sites for both its partner protein MCFD2 and the cargo proteins FV/FVIII.
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Data indicate that together with its soluble coreceptor MCFD2, LMAN1 transports coagulation factors V (FV) and VIII (FVIII).
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Mutations in LMAN1 lead to F5F8D (combined deficiency of factor V And factor VIII) due to alterations in LMAN1-MCFD2 complex of coat protein (COP)II complex trafficking machinery; 70% of F5F8D patients have mutations in LMAN1. [REVIEW]
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UBXD1 modulates the trafficking of ERGIC-53-containing vesicles by controlling the interaction of transport factors with the cytoplasmic tail of ERGIC-53.
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Two new mutations at ERGIC-53 gene in a Turkish family.
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Data present the crystal structure of the LMAN1/MCFD2 complex and relate it to patient mutations. Circular dichroism data show that the majority of the substitution mutations give rise to a disordered or severely destabilized MCFD2 protein.
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Data show that mutations in MCFD2 that disrupt the tertiary structure and abolish LMAN1 binding still retain the FV/FVIII binding activities, suggesting that this interaction is independent of Ca(2+)-induced folding of the protein.
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Among Papua New Guinea malaria patients, 2 new mannose-binding lectin polymorphic promoter sites were found: one in the untranslated region at position +1 (G-->A, termed R/S), and the 2nd upstream of the gene at position -4 (G-->A, termed T/U).
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MBL deficiency is not a risk factor for SLE in women from the Canary Islands, but it is associated with lower prevalence of autoantibodies and with later age at disease onset and at SLE diagnosis.
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inactivating mutations in MCFD2 cause combined deficiency of factor V and factor VIII with a phenotype indistinguishable from that caused by mutations in LMAN1
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Data show that the mRNA of lectin ERGIC-53 and its related protein VIP36 is induced by the known inducers of endoplasmic reticulum stress, tunicamycin and thapsigargin.
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an interaction between LMAN1 and FVIII in vivo was mediated via high mannose-containing asparagine-linked oligosaccharides that are densely situated within the B domain of FVIII, as well as protein-protein interactions
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Results describe the x-ray structure of human mannan-binding lectin-associated protein 19 (MAp19), and identify the residues involved in the interaction of MAp19 with mannan-binding lectin and L-ficolin.
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surfactant proteins A and D and mannose-binding lectin play roles in inflammation caused by DNA in lungs and other tissues
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ERGIC-53 and MCFD2 have important functions during cellular response to stress conditions
