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Genome-Wide Association Study Identifies CDKN1A as a Novel Locus Associated with Muscle Fiber Composition.
Semenova EA, Zempo H, Miyamoto-Mikami E, Kumagai H, Larin AK, Sultanov RI, Babalyan KA, Zhelankin AV, Tobina T, Shiose K, Kakigi R, Tsuzuki T, Ichinoseki-Sekine N, Kobayashi H, Naito H, Burniston J, Generozov EV, Fuku N, Ahmetov II. Semenova EA, et al. Cells. 2022 Dec 2;11(23):3910. doi: 10.3390/cells11233910. Cells. 2022. PMID: 36497168 Free PMC article.
A Common Type 2 Diabetes Risk Variant Potentiates Activity of an Evolutionarily Conserved Islet Stretch Enhancer and Increases C2CD4A and C2CD4B Expression.
Kycia I, Wolford BN, Huyghe JR, Fuchsberger C, Vadlamudi S, Kursawe R, Welch RP, Albanus RD, Uyar A, Khetan S, Lawlor N, Bolisetty M, Mathur A, Kuusisto J, Laakso M, Ucar D, Mohlke KL, Boehnke M, Collins FS, Parker SCJ, Stitzel ML. Kycia I, et al. Am J Hum Genet. 2018 Apr 5;102(4):620-635. doi: 10.1016/j.ajhg.2018.02.020. Am J Hum Genet. 2018. PMID: 29625024 Free PMC article.
Chromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants.
Parker SC, Stitzel ML, Taylor DL, Orozco JM, Erdos MR, Akiyama JA, van Bueren KL, Chines PS, Narisu N; NISC Comparative Sequencing Program; Black BL, Visel A, Pennacchio LA, Collins FS; National Institutes of Health Intramural Sequencing Center Comparative Sequencing Program Authors; NISC Comparative Sequencing Program Authors. Parker SC, et al. Proc Natl Acad Sci U S A. 2013 Oct 29;110(44):17921-6. doi: 10.1073/pnas.1317023110. Epub 2013 Oct 14. Proc Natl Acad Sci U S A. 2013. PMID: 24127591 Free PMC article.