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

Volumn 99, Issue 5, 2016, Pages 1163-1171

  Bello, Luca ^a,b   Punetha, Jaya ^a   Gordish Dressman, Heather ^a   Giri, Mamta ^a   Hoffman, Eric P ^a   Barp, Andrea ^b   Vianello, Sara ^b   Pegoraro, Elena ^b   Flanigan, Kevin M ^c   Weiss, Robert B ^d   Spitali, Pietro ^e   Aartsma Rus, Annemieke ^e,f   Straub, Volker ^f   Lochmüller, Hanns ^f   Muntoni, Francesco ^g   Zaharieva, Irina ^g   Ferlini, Alessandra ^h   Mercuri, Eugenio ⁱ   Tuffery Giraud, Sylvie ^j   Claustres, Mireille ^j   McDonald, Craig M ^k   Dunn, Diane M ^l   Swoboda, Kathryn J ^l   Gappmaier, Eduard ^l   Howard, Michael T ^l   Sampson, Jacinda B ^l   Bromberg, Mark B ^l   Butterfield, Russell ^l   Kerr, Lynne ^l   Pestronk, Alan ^l   Florence, Julaine M ^l   Connolly, Anne ^l   Lopate, Glenn ^l   Golumbek, Paul ^l   Schierbecker, Jeanine ^l   Malkus, Betsy ^l   Renna, Renee ^l   Siener, Catherine ^l   Finkel, Richard S ^l   Bonnemann, Carsten G ^l   Medne, Livija ^l   Glanzman, Allan M ^l   Flickinger, Jean ^l   Mendell, Jerry R ^l   King, Wendy M ^l   Lowes, Linda ^l   Alfano, Lindsay ^l   Mathews, Katherine D ^l   Stephan, Carrie ^l   Laubenthal, Karla ^l   Baldwin, Kris ^l   Wong, Brenda ^l   Morehart, Paula ^l   Meyer, Amy ^l   Day, John W ^l   Naughton, Cameron E ^l   Margolis, Marcia ^l   Cnaan, Avital ^l   Abresch, Richard T ^l   Henricson, Erik K ^l   Morgenroth, Lauren P ^l   Duong, Tina ^l   Chidambaranathan, V Viswanathan ^l   Biggar, W Douglas ^l   McAdam, Laura C ^l   Mah, Jean ^l   Tulinius, Mar ^l   Leshner, Robert ^l   Rocha, Carolina Tesi ^l   Thangarajh, Mathula ^l   Kornberg, Andrew ^l   Ryan, Monique ^l   Nevo, Yoram ^l   Dubrovsky, Alberto ^l   Clemens, Paula R ^l   Abdel Hamid, Hoda ^l   Connolly, Anne M ^l   Teasley, Jean ^l   Bertorini, Tulio E ^l   North, Kathryn ^l   Webster, Richard ^l   Kolski, Hanna ^l   Kuntz, Nancy ^l   Driscoll, Sherilyn ^l   Carlo, Jose ^l   Gorni, Ksenija ^l   Lotze, Timothy ^l   Karachunski, Peter ^l   Bodensteiner, John B ^l   more..

^a CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^b UNIVERSITY OF PADOVA   (Italy)

^c OHIO STATE UNIVERSITY   (United States)

^d UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^e LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^f NEWCASTLE UNIVERSITY   (United Kingdom)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h UNIVERSITY OF FERRARA   (Italy)

ⁱ CATHOLIC UNIVERSITY   (Italy)

^j UNIVERSITÉ DE MONTPELLIER   (France)

^k UNIVERSITY OF CALIFORNIA   (United States)

^l NONE

more..

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOCORTICOID; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; TRANSFORMING GROWTH FACTOR BETA; CD40 ANTIGEN; DYSTROPHIN; LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN; LTBP4 PROTEIN, HUMAN; OSTEOPONTIN; SPP1 PROTEIN, HUMAN;

5' UNTRANSLATED REGION; AGE; ALLELE; ANCESTRY GROUP; ARTICLE; CD40 GENE; CELL POLARITY; CELLULAR IMMUNITY; COHORT ANALYSIS; CONTROLLED STUDY; COVARIANCE; DNA MICROARRAY; DUCHENNE MUSCULAR DYSTROPHY; EXON; GENE EXPRESSION; GENE ONTOLOGY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMAN; HUMAN TISSUE; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUSCLE BIOPSY; PATIENT MOBILITY; POPULATION SIZE; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM; T LYMPHOCYTE; ADOLESCENT; CASE CONTROL STUDY; CAUCASIAN; CHILD; GENETICS; METABOLISM; MODIFIER GENE; MUTATION;

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;

EID: 84997335647     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.08.023     Document Type: Article

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