Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.

Authors

Luca Bello
Kevin M Flanigan
Robert B Weiss
Pietro Spitali
Annemieke Aartsma-Rus
Francesco Muntoni
Irina Zaharieva
Alessandra Ferlini
Eugenio Mercuri
Sylvie Tuffery-Giraud
Mireille Claustres
Volker Straub
Hanns Lochmüller
Andrea Barp
Sara Vianello
Elena Pegoraro
Jaya Punetha, George Washington University - School of Medicine and Health Sciences
Heather Gordish-Dressman
Mamta Giri
Craig M McDonald
Eric P HoffmanFollow

Document Type

Journal Article

Publication Date

11-3-2016

Student Program

IBS

Journal

American Journal of Human Genetics

Volume

99

Issue

5

Inclusive Pages

1163-1171

DOI

10.1016/j.ajhg.2016.08.023

Keywords

Adolescent; Alleles; Antigens, CD40; Case-Control Studies; Child; Dystrophin; European Continental Ancestry Group; Exons; Genes, Modifier; Genome-Wide Association Study; Glucocorticoids; Humans; Latent TGF-beta Binding Proteins; Muscular Dystrophy, Duchenne; Mutation; NF-kappa B; Osteopontin; Polymorphism, Single Nucleotide; Transforming Growth Factor beta

APA Citation

Bello, L., Flanigan, K., Weiss, R., Spitali, P., Aartsma-Rus, A., Muntoni, F., Zaharieva, I., Ferlini, A., Mercuri, E., Tuffery-Giraud, S., Claustres, M., Straub, V., Lochmüller, H., Barp, A., Vianello, S., Pegoraro, E., Punetha, J., Gordish-Dressman, H., Giri, M., McDonald, C., & Hoffman, E. (2016). Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.. American Journal of Human Genetics, 99 (5). http://dx.doi.org/10.1016/j.ajhg.2016.08.023

Peer Reviewed

1