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Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes.
Kent OA, Saha M, Coyaud E, Burston HE, Law N, Dadson K, Chen S, Laurent EM, St-Germain J, Sun RX, Matsumoto Y, Cowen J, Montgomery-Song A, Brown KR, Ishak C, Rose J, De Carvalho DD, He HH, Raught B, Billia F, Kannu P, Rottapel R. Kent OA, et al. Among authors: billia f. Nat Commun. 2020 Sep 16;11(1):4673. doi: 10.1038/s41467-020-18483-9. Nat Commun. 2020. PMID: 32938917 Free PMC article.
p53 regulates the cardiac transcriptome.
Mak TW, Hauck L, Grothe D, Billia F. Mak TW, et al. Among authors: billia f. Proc Natl Acad Sci U S A. 2017 Feb 28;114(9):2331-2336. doi: 10.1073/pnas.1621436114. Epub 2017 Feb 13. Proc Natl Acad Sci U S A. 2017. PMID: 28193895 Free PMC article.
REEP5 depletion causes sarco-endoplasmic reticulum vacuolization and cardiac functional defects.
Lee SH, Hadipour-Lakmehsari S, Murthy HR, Gibb N, Miyake T, Teng ACT, Cosme J, Yu JC, Moon M, Lim S, Wong V, Liu P, Billia F, Fernandez-Gonzalez R, Stagljar I, Sharma P, Kislinger T, Scott IC, Gramolini AO. Lee SH, et al. Among authors: billia f. Nat Commun. 2020 Feb 19;11(1):965. doi: 10.1038/s41467-019-14143-9. Nat Commun. 2020. PMID: 32075961 Free PMC article.
154 results