Varaico: Literature-Extracted Genetic Variants

Gene:IKBKG
Variant:p.A323P
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IKBKG

NM_001099857.5:p.A323P

Associated Papers

A novel inhibitor of nuclear factor kappa-B kinase subunit gamma mutation identified in an incontinentia pigmenti patient with syndromic tooth agenesis.

Sun S et al.

Archives of Oral Biology, 2019

NEMO Links Nuclear Factor-κB to Human Diseases.

Maubach G et al.

Trends in Molecular Medicine, 2017

Super-resolution microscopy reveals a preformed NEMO lattice structure that is collapsed in incontinentia pigmenti.

Scholefield J et al.

Nature Communications, 2016

NEMO regulates a cell death switch in TNF signaling by inhibiting recruitment of RIPK3 to the cell death-inducing complex II.

Pescatore A et al.

Cell Death & Disease, 2016

Inhibition of Canonical NF-κB Signaling by a Small Molecule Targeting NEMO-Ubiquitin Interaction.

Vincendeau M et al.

Scientific Reports, 2016

Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura.

Ramírez-Alejo N et al.

Clinical Immunology (orlando, Fla.), 2015

Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with Diseases.

Sun B et al.

Computational and Mathematical Methods in Medicine, 2015

26495027 (PubMed )
Supplement: 124630.f1.zip › mat.124630.v2 › Table_S2.xlsx › Ubiquitylation

Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.

Conte MI et al.

Human Mutation, 2014

Two-sided ubiquitin binding of NF-κB essential modulator (NEMO) zinc finger unveiled by a mutation associated with anhidrotic ectodermal dysplasia with immunodeficiency syndrome.

Ngadjeua F et al.

The Journal of Biological Chemistry, 2013

Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology.

Gautheron J et al.

Human Molecular Genetics, 2010

DARPin-assisted crystallography of the CC2-LZ domain of NEMO reveals a coupling between dimerization and ubiquitin binding.

Grubisha O et al.

Journal of Molecular Biology, 2010

Structural basis for recognition of diubiquitins by NEMO.

Lo YC et al.

Molecular Cell, 2009

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.

Fusco F et al.

Human Mutation, 2008

Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti.

Sebban-Benin H et al.

Human Molecular Genetics, 2007

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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."