Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.E129G
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CD40LG

NM_000074.3:p.E129G

Associated Papers

CD40L Activates Platelet Integrin αIIbβ3 by Binding to the Allosteric Site (Site 2) in a KGD-Independent Manner and HIGM1 Mutations Are Clustered in the Integrin-Binding Sites of CD40L.

Takada YK et al.

Cells, 2023

Hyper IgM Syndrome: a Report from the USIDNET Registry.

Leven EA et al.

Journal of Clinical Immunology, 2016

Immunoglobulin class switch recombination deficiency type 1 or CD40 ligand deficiency: from bedside to bench and back again.

Hirbod-Mobarakeh A et al.

Expert Review of Clinical Immunology, 2014

Crystallographic and mutational analysis of the CD40-CD154 complex and its implications for receptor activation.

An HJ et al.

The Journal of Biological Chemistry, 2011

CD40 ligand and MHC class II expression are essential for human peripheral B cell tolerance.

Hervé M et al.

The Journal of Experimental Medicine, 2007

The structural basis of hyper IgM deficiency - CD40L mutations.

Thusberg J et al.

Protein Engineering, Design & Selection : Peds, 2007

CD154 variants associated with hyper-IgM syndrome can form oligomers and trigger CD40-mediated signals.

Garber E et al.

The Journal of Biological Chemistry, 1999

CD40 ligand mutants responsible for X-linked hyper-IgM syndrome associate with wild type CD40 ligand.

Seyama K et al.

The Journal of Biological Chemistry, 1999

Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.

Seyama K et al.

Blood, 1998

Identification of residues on CD40 and its ligand which are critical for the receptor-ligand interaction.

Bajorath J et al.

Biochemistry, 1995

Soluble CD40L activates soluble and cell-surface integrin αvβ3, α5β1, and α4β1 by binding to the allosteric ligand-binding site (site 2).

Takada YK et al.

The Journal of Biological Chemistry, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."