Two Functional Lupus-Associated BLK Promoter Variants Control Cell-Type- and Developmental-Stage-Specific Transcription

Efforts to identify lupus-associated causal variants in the FAM167A/BLK locus on 8p21 are hampered by highly associated noncausal variants. In this report, we used a trans-population mapping and sequencing strategy to identify a common variant (rs922483) in the proximal BLK promoter and a tri-alleli...

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Autori principali: Guthridge, Joel M., Lu, Rufei, Sun, Harry, Sun, Celi, Wiley, Graham B., Dominguez, Nicolas, Macwana, Susan R., Lessard, Christopher J., Kim-Howard, Xana, Cobb, Beth L., Kaufman, Kenneth M., Kelly, Jennifer A., Langefeld, Carl D., Adler, Adam J., Harley, Isaac T.W., Merrill, Joan T., Gilkeson, Gary S., Kamen, Diane L., Niewold, Timothy B., Brown, Elizabeth E., Edberg, Jeffery C., Petri, Michelle A., Ramsey-Goldman, Rosalind, Reveille, John D., Vilá, Luis M., Kimberly, Robert P., Freedman, Barry I., Stevens, Anne M., Boackle, Susan A., Criswell, Lindsey A., Vyse, Tim J., Behrens, Timothy W., Jacob, Chaim O., Alarcón-Riquelme, Marta E., Sivils, Kathy L., Choi, Jiyoung, Joo, Young Bin, Bang, So-Young, Lee, Hye-Soon, Bae, Sang-Cheol, Shen, Nan, Qian, Xiaoxia, Tsao, Betty P., Scofield, R. Hal, Harley, John B., Webb, Carol F., Wakeland, Edward K., James, Judith A., Nath, Swapan K., Graham, Robert R., Gaffney, Patrick M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3980411/
https://ncbi.nlm.nih.gov/pubmed/24702955
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.03.008
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