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Loss of FLCN inhibits canonical WNT signaling via TFE3.
Kennedy JC, Khabibullin D, Hougard T, Nijmeh J, Shi W, Henske EP. Kennedy JC, et al. Hum Mol Genet. 2019 Oct 1;28(19):3270-3281. doi: 10.1093/hmg/ddz158. Hum Mol Genet. 2019. PMID: 31272105 Free PMC article.
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.
Li Q, Dibus M, Casey A, Yee CSK, Vargas SO, Luo S, Rosen SM, Madden JA, Genetti CA, Brabek J, Brownstein CA, Kazerounian S, Raby BA, Schmitz-Abe K, Kennedy JC, Fishman MP, Mullen MP, Taylor JM, Rosel D, Agrawal PB. Li Q, et al. Among authors: kennedy jc. PLoS Genet. 2021 Jul 7;17(7):e1009639. doi: 10.1371/journal.pgen.1009639. eCollection 2021 Jul. PLoS Genet. 2021. PMID: 34232960 Free PMC article.
Limited Effect of Prevention Strategies on Incidence of Clinically Detectable Venous Thromboembolism After Lung Transplantation.
Marshall S, Tsveybel K, Boukedes S, Chepuri R, Coppolino A, El-Chemaly S, Hartigan P, Kennedy J, Keshk M, Klibaner-Schiff E, Lee S, Mallidi H, Sharma N, Thaniyavarn T, Young J, Townsend K, Goldberg H. Marshall S, et al. Transplant Proc. 2023 Nov;55(9):2191-2196. doi: 10.1016/j.transproceed.2023.06.015. Epub 2023 Oct 4. Transplant Proc. 2023. PMID: 37802745
160 results