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Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia.
Tsai AC, Lin HT, Chou M, Bolen J, Zimmerman C, DeMarzo D, Enchautegui-Colon Y. Tsai AC, et al. Among authors: bolen j. Mol Genet Metab Rep. 2022 Mar 19;31:100859. doi: 10.1016/j.ymgmr.2022.100859. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35782626 Free PMC article.
Discovering dominant tumor immune archetypes in a pan-cancer census.
Combes AJ, Samad B, Tsui J, Chew NW, Yan P, Reeder GC, Kushnoor D, Shen A, Davidson B, Barczak AJ, Adkisson M, Edwards A, Naser M, Barry KC, Courau T, Hammoudi T, Argüello RJ, Rao AA, Olshen AB; Immunoprofiler Consortium; Cai C, Zhan J, Davis KC, Kelley RK, Chapman JS, Atreya CE, Patel A, Daud AI, Ha P, Diaz AA, Kratz JR, Collisson EA, Fragiadakis GK, Erle DJ, Boissonnas A, Asthana S, Chan V, Krummel MF. Combes AJ, et al. Cell. 2022 Jan 6;185(1):184-203.e19. doi: 10.1016/j.cell.2021.12.004. Epub 2021 Dec 27. Cell. 2022. PMID: 34963056 Free PMC article.
Caveolin-1 and Sox-2 are predictive biomarkers of cetuximab response in head and neck cancer.
Bouhaddou M, Lee RH, Li H, Bhola NE, O'Keefe RA, Naser M, Zhu TR, Nwachuku K, Duvvuri U, Olshen AB, Roy R, Hechmer A, Bolen J, Keysar SB, Jimeno A, Mills GB, Vandenberg S, Swaney DL, Johnson DE, Krogan NJ, Grandis JR. Bouhaddou M, et al. Among authors: bolen j. JCI Insight. 2021 Oct 22;6(20):e151982. doi: 10.1172/jci.insight.151982. JCI Insight. 2021. PMID: 34546978 Free PMC article.
314 results