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A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.
Nguyen LS, Schneider T, Rio M, Moutton S, Siquier-Pernet K, Verny F, Boddaert N, Desguerre I, Munich A, Rosa JL, Cormier-Daire V, Colleaux L. Nguyen LS, et al. Among authors: rosa jl. Eur J Hum Genet. 2016 Mar;24(3):455-8. doi: 10.1038/ejhg.2015.140. Epub 2015 Jul 8. Eur J Hum Genet. 2016. PMID: 26153217 Free PMC article.
The HERC2 ubiquitin ligase is essential for embryonic development and regulates motor coordination.
Cubillos-Rojas M, Schneider T, Hadjebi O, Pedrazza L, de Oliveira JR, Langa F, Guénet JL, Duran J, de Anta JM, Alcántara S, Ruiz R, Pérez-Villegas EM, Aguilar-Montilla FJ, Carrión ÁM, Armengol JA, Baple E, Crosby AH, Bartrons R, Ventura F, Rosa JL. Cubillos-Rojas M, et al. Among authors: rosa jl. Oncotarget. 2016 Aug 30;7(35):56083-56106. doi: 10.18632/oncotarget.11270. Oncotarget. 2016. PMID: 27528230 Free PMC article.
Analysis of Protein Oligomerization by Electrophoresis.
Cubillos-Rojas M, Schneider T, Sánchez-Tena S, Bartrons R, Ventura F, Rosa JL. Cubillos-Rojas M, et al. Among authors: rosa jl. Methods Mol Biol. 2016;1449:341-8. doi: 10.1007/978-1-4939-3756-1_22. Methods Mol Biol. 2016. PMID: 27613048
Guaraná, a Highly Caffeinated Food, Presents in vitro Antitumor Activity in Colorectal and Breast Cancer Cell Lines by Inhibiting AKT/mTOR/S6K and MAPKs Pathways.
Cadoná FC, Rosa JL, Schneider T, Cubillos-Rojas M, Sánchez-Tena S, Azzolin VF, Assmann CE, Machado AK, Ribeiro EE, da Cruz IBM. Cadoná FC, et al. Among authors: rosa jl. Nutr Cancer. 2017 Jul;69(5):800-810. doi: 10.1080/01635581.2017.1324994. Epub 2017 Jun 1. Nutr Cancer. 2017. PMID: 28569556
Large HERCs Function as Tumor Suppressors.
Schneider T, Martinez-Martinez A, Cubillos-Rojas M, Bartrons R, Ventura F, Rosa JL. Schneider T, et al. Among authors: rosa jl. Front Oncol. 2019 Jun 18;9:524. doi: 10.3389/fonc.2019.00524. eCollection 2019. Front Oncol. 2019. PMID: 31275856 Free PMC article. No abstract available.
164 results