Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.

Hanson, Eric P; Monaco-Shawver, Linda; Solt, Laura A; Madge, Lisa A; Banerjee, Pinaki P; May, Michael J; Orange, Jordan S

Hanson, Eric P; Monaco-Shawver, Linda; Solt, Laura A; Madge, Lisa A; Banerjee, Pinaki P; May, Michael J; Orange, Jordan S.

Affiliation

Hanson EP; Division of Rheumatology, Joseph Stokes Jr Research Institute, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

J Allergy Clin Immunol ; 122(6): 1169-1177.e16, 2008 Dec.

Article in En | MEDLINE | ID: mdl-18851874

Subject(s)

Databases, Genetic; I-kappa B Kinase/genetics; I-kappa B Kinase/metabolism; Immunologic Deficiency Syndromes/genetics; Immunologic Deficiency Syndromes/metabolism; Mutation, Missense; Amino Acid Substitution; Apoptosis/genetics; CD40 Antigens/metabolism; DNA-Binding Proteins; Gene Expression Regulation/genetics; Genetic Complementation Test/methods; Genotype; Humans; Intracellular Signaling Peptides and Proteins; Jurkat Cells; NF-kappa B/metabolism; Nuclear Proteins/biosynthesis; Phenotype; Protein Structure, Tertiary/genetics; Receptors, Antigen, T-Cell/metabolism; Signal Transduction/genetics; Toll-Like Receptor 5/metabolism; Tumor Necrosis Factor alpha-Induced Protein 3; Tumor Necrosis Factor-alpha/metabolism

Fulltext

XML

PubMed Links

Search on Google

Full text: 1 Database: MEDLINE Main subject: Mutation, Missense / Databases, Genetic / I-kappa B Kinase / Immunologic Deficiency Syndromes Type of study: Prognostic_studies Limits: Humans Language: En Year: 2008 Type: Article

Fulltext

XML

PubMed Links

Search on Google