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Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.
Polubothu S, Zecchin D, Al-Olabi L, Lionarons DA, Harland M, Horswell S, Thomas AC, Hunt L, Wlodarchak N, Aguilera P, Brand S, Bryant D, Carrera C, Chen H, Elgar G, Harwood CA, Howell M, Larue L, Loughlin S, MacDonald J, Malvehy J, Barberan SM, da Silva VM, Molina M, Morrogh D, Moulding D, Nsengimana J, Pittman A, Puig-Butillé JA, Parmar K, Sebire NJ, Scherer S, Stadnik P, Stanier P, Tell G, Waelchli R, Zarrei M, Puig S, Bataille V, Xing Y, Healy E, Moore GE, Di WL, Newton-Bishop J, Downward J, Kinsler VA. Polubothu S, et al. Among authors: tell g. Genet Med. 2021 Sep;23(9):1636-1647. doi: 10.1038/s41436-021-01204-y. Epub 2021 Jun 18. Genet Med. 2021. PMID: 34145395 Free PMC article.
T-type calcium channels drive migration/invasion in BRAFV600E melanoma cells through Snail1.
Maiques O, Barceló C, Panosa A, Pijuan J, Orgaz JL, Rodriguez-Hernandez I, Matas-Nadal C, Tell G, Vilella R, Fabra A, Puig S, Sanz-Moreno V, Matias-Guiu X, Canti C, Herreros J, Marti RM, Macià A. Maiques O, et al. Among authors: tell g. Pigment Cell Melanoma Res. 2018 Jul;31(4):484-495. doi: 10.1111/pcmr.12690. Epub 2018 Feb 18. Pigment Cell Melanoma Res. 2018. PMID: 29385656 Free article.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.
Light-strand bias and enriched zones of embedded ribonucleotides are associated with DNA replication and transcription in the human-mitochondrial genome.
Xu P, Yang T, Kundnani DL, Sun M, Marsili S, Gombolay AL, Jeon Y, Newnam G, Balachander S, Bazzani V, Baccarani U, Park VS, Tao S, Lori A, Schinazi RF, Kim B, Pursell ZF, Tell G, Vascotto C, Storici F. Xu P, et al. Among authors: tell g. Nucleic Acids Res. 2024 Feb 9;52(3):1207-1225. doi: 10.1093/nar/gkad1204. Nucleic Acids Res. 2024. PMID: 38117983 Free PMC article.
616 results