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A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis.
Goos JAC, Vogel WK, Mlcochova H, Millard CJ, Esfandiari E, Selman WH, Calpena E, Koelling N, Carpenter EL, Swagemakers SMA, van der Spek PJ, Filtz TM, Schwabe JWR, Iwaniec UT, Mathijssen IMJ, Leid M, Twigg SRF. Goos JAC, et al. Hum Mol Genet. 2019 Aug 1;28(15):2501-2513. doi: 10.1093/hmg/ddz072. Hum Mol Genet. 2019. PMID: 31067316 Free PMC article.
Aster Proteins Facilitate Nonvesicular Plasma Membrane to ER Cholesterol Transport in Mammalian Cells.
Sandhu J, Li S, Fairall L, Pfisterer SG, Gurnett JE, Xiao X, Weston TA, Vashi D, Ferrari A, Orozco JL, Hartman CL, Strugatsky D, Lee SD, He C, Hong C, Jiang H, Bentolila LA, Gatta AT, Levine TP, Ferng A, Lee R, Ford DA, Young SG, Ikonen E, Schwabe JWR, Tontonoz P. Sandhu J, et al. Cell. 2018 Oct 4;175(2):514-529.e20. doi: 10.1016/j.cell.2018.08.033. Epub 2018 Sep 13. Cell. 2018. PMID: 30220461 Free PMC article.
A Pharmacogenetic Approach to the Treatment of Patients With PPARG Mutations.
Agostini M, Schoenmakers E, Beig J, Fairall L, Szatmari I, Rajanayagam O, Muskett FW, Adams C, Marais AD, O'Rahilly S, Semple RK, Nagy L, Majithia AR, Schwabe JWR, Blom DJ, Murphy R, Chatterjee K, Savage DB. Agostini M, et al. Diabetes. 2018 Jun;67(6):1086-1092. doi: 10.2337/db17-1236. Epub 2018 Apr 5. Diabetes. 2018. PMID: 29622583 Free PMC article.