Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.L155P
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CD40LG

NM_000074.3:p.L155P

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

Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing.

Arunachalam AK et al.

Journal of Clinical Immunology, 2021

X-linked hyper-IgM syndrome associated with pulmonary manifestations: A very rare case of functional mutation in CD40L gene in Iran.

Torabizadeh M et al.

Current Research in Translational Medicine, 2019

Clinical Manifestations, Immunological Characteristics and Genetic Analysis of Patients with Hyper-Immunoglobulin M Syndrome in Iran.

Tafakori Delbari M et al.

International Archives of Allergy and Immunology, 2019

Phenotypic and Functional Comparison of Class Switch Recombination Deficiencies with a Subgroup of Common Variable Immunodeficiencies.

Aan de Kerk DJ et al.

Journal of Clinical Immunology, 2016

Hyper IgM Syndrome: a Report from the USIDNET Registry.

Leven EA et al.

Journal of Clinical Immunology, 2016

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

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

Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called "milder" mutants.

Danielian S et al.

Journal of Clinical Immunology, 2007

The structural basis of hyper IgM deficiency - CD40L mutations.

Thusberg J et al.

Protein Engineering, Design & Selection : Peds, 2007

Immunological and genetic analysis of 65 patients with a clinical suspicion of X linked hyper-IgM.

Gilmour KC et al.

Molecular Pathology : Mp, 2003

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

A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.

Lin Q et al.

The Journal of Clinical Investigation, 1996

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

Bajorath J et al.

Biochemistry, 1995

[A case of salt-deficiency cramp].

HENSCHEN-NYMAN O

Svenska Lakartidningen, 1959

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."