Varaico: Literature-Extracted Genetic Variants

Gene:IKBKG
Variant:p.M407V
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IKBKG

NM_001099857.5:p.M407V

Associated Papers

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.

Kliche J et al.

Molecular Systems Biology, 2024

39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides

Hematopoietic stem cell transplantation for RelB deficiency.

Ovadia A et al.

The Journal of Allergy and Clinical Immunology, 2017

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.

Miot C et al.

Blood, 2017

NEMO gene mutations in Chinese patients with incontinentia pigmenti.

Hsiao PF et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2010

NEMO specifically recognizes K63-linked poly-ubiquitin chains through a new bipartite ubiquitin-binding domain.

Laplantine E et al.

The Embo Journal, 2009

Absence of somatic mutations of NEMO in keratoacanthoma.

Ridd K et al.

The Journal of Investigative Dermatology, 2009

The zinc finger of NEMO is a functional ubiquitin-binding domain.

Cordier F et al.

The Journal of Biological Chemistry, 2009

[An incontinentia pigmenti family with deletion in both NEMO gene and pseudogene DeltaNEMO].

Zhang G et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008

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

Fusco F et al.

Human Mutation, 2008

Solution structure of NEMO zinc finger and impact of an anhidrotic ectodermal dysplasia with immunodeficiency-related point mutation.

Cordier F et al.

Journal of Molecular Biology, 2008

NF-kappaB-related genetic diseases.

Courtois G et al.

Cell Death and Differentiation, 2006

A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.

Aradhya S et al.

Human Molecular Genetics, 2001

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.

Smahi A et al.

Nature, 2000

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