A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency-Reference-Cited by-同舟云学术

A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency

Published:2008 Issue:6 Volume:29 Page:861-868
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Lopez-Granados Eduardo,Keenan Jeffrey E.,Kinney Matthew C.,Leo Harvey,Jain Neal,Ma Chi A.,Quinones Ralph,Gelfand Erwin W.,Jain Ashish

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference23 articles.

1. Perturbation of the T Lymphocyte Lineage In Transgenic Mice Expressing a Constitutive Repressor of Nuclear Factor (NF)-κB

2. Coupling of a signal response domain in I kappa B alpha to multiple pathways for NF-kappa B activation

3. A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

4. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling

5. Successful Allogeneic Hemopoietic Stem Cell Transplantation in a Child Who Had Anhidrotic Ectodermal Dysplasia With Immunodeficiency

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