BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency

Transcriptional programs guiding lymphocyte differentiation depend on precise expression and timing of transcription factors (TFs). BACH2 is a TF essential for T- and B-lymphocytes and is associated with an archetypal super-enhancer (SE). Single nucleotide variants in the BACH2 locus associate with...

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Publicado en:Nat Immunol
Autores principales: Afzali, Behdad, Grönholm, Juha, Vandrovcova, Jana, O’Brien, Charlotte, Sun, Hong-Wei, Vanderleyden, Ine, Davis, Fred P, Khoder, Ahmad, Zhang, Yu, Hegazy, Ahmed N, Villarino, Alejandro V, Palmer, Ira W, Kaufman, Joshua, Watts, Norman R, Kazemian, Majid, Kamenyeva, Olena, Keith, Julia, Sayed, Anwar, Kasperaviciute, Dalia, Mueller, Michael, Hughes, Jason D., Fuss, Ivan J., Sadiyah, Mohammed F, Montgomery-Recht, Kim, McElwee, Joshua, Restifo, Nicholas P, Strober, Warren, Linterman, Michelle A, Wingfield, Paul T, Uhlig, Holm H, Roychoudhuri, Rahul, Aitman, Timothy J., Kelleher, Peter, Lenardo, Michael J, O’Shea, John J, Cooper, Nichola, Laurence, Arian DJ
Formato: Artigo
Lenguaje:Inglês
Publicado: 2017
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5593426/
https://ncbi.nlm.nih.gov/pubmed/28530713
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ni.3753
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