TitleDateReferenceDOI
A FBN1 3′UTR mutation variant is associated with endoplasmic reticulum stress in aortic aneurysm in Marfan syndrome2019-01-01Siegert, AM; Díaz-Barriga, GG; Esteve-Codina, A; Navas-Madronal, M; del Blanco, DG; Alberch, J; Heath, S; Galán, M; Egea, G (2019). A FBN1 3′UTR mutation variant is associated with endoplasmic reticulum stress in aortic aneurysm in Marfan syndrome. Biochimica Et Biophysica Acta-Molecular Basis Of Disease, 1865(1), 107-114. DOI: 10.1016/j.bbadis.2018.10.029https://doi.org/10.1016/j.bbadis.2018.10.029
Mutational Profile of Aggressive, Localised Prostate Cancer from African Caribbean Men Versus European Ancestry Men2019-01-01Tonon, L; Fromont, G; Boyault, S; Thomas, E; Ferrari, A; Sertier, AS; Kielbassa, J; Le Texier, V; Kamoun, A; Elarouci, N; Irani, J; Multigner, L; Gut, (2019). Mutational Profile of Aggressive, Localised Prostate Cancer from African Caribbean Men Versus European Ancestry Men. European Urology, 75(1), 11-15. DOI: 10.1016/j.eururo.2018.08.026https://doi.org/10.1016/j.eururo.2018.08.026
Giant tortoise genomes provide insights into longevity and age-related disease2019-01-01Quesada, V; Freitas-Rodríguez, S; Miller, J; Pérez-Silva, JG; Jiang, ZF; Tapia, W; Santiago-Fernández, O; Campos-Iglesias, D; Kuderna, LFK; Quinzin, M (2019). Giant tortoise genomes provide insights into longevity and age-related disease. Nature Ecology & Evolution, 3(1), 87-95. DOI: 10.1038/s41559-018-0733-xhttps://doi.org/10.1038/s41559-018-0733-x
The comparative genomics and complex population history of Papio baboons2019-01-01Rogers, J; Raveendran, M; Harris, RA; Mailund, T; Leppälä, K; Athanasiadis, G; Schierup, MH; Cheng, J; Munch, K; Walker, JA; Konkel, MK; Jordan, V; St (2019). The comparative genomics and complex population history of Papio baboons. Science Advances, 5(1), eaau6947-. DOI: 10.1126/sciadv.aau6947https://doi.org/10.1126/sciadv.aau6947
Spatiotemporal transcriptomic divergence across human and macaque brain development2018-12-14Zhu, Y; Sousa, AMM; Gao, TLY; Skarica, M; Li, MF; Santpere, G; Esteller-Cucala, P; Juan, D; Ferrández-Peral, L; Gulden, FO; Yang, M; Miller, DJ; Marqu (2018). Spatiotemporal transcriptomic divergence across human and macaque brain development. Science, 362(6420), 1267-+. DOI: 10.1126/science.aat8077https://doi.org/10.1126/science.aat8077
Comprehensive RNA-Sequencing Analysis in Serum and Muscle Reveals Novel Small RNA Signatures with Biomarker Potential for DMD2018-12-07Coenen-Stass, AML; Sork, H; Gatto, S; Godfrey, C; Bhomra, A; Krjutskov, K; Hart, JR; Westholm, JO; O'Donovan, L; Roos, A; Lochmüller, H; Puri, PL; EL (2018). Comprehensive RNA-Sequencing Analysis in Serum and Muscle Reveals Novel Small RNA Signatures with Biomarker Potential for DMD. Molecular Therapy-Nucleic Acids, 13(), 1-15. DOI: 10.1016/j.omtn.2018.08.005https://doi.org/10.1016/j.omtn.2018.08.005
SP140 regulates the expression of immune-related genes associated with multiple sclerosis and other autoimmune diseases by NF-κB inhibition2018-12-01Karaky, M; Fedetz, M; Potenciano, V; Andrés-León, E; Codina, AE; Barrionuevo, C; Alcina, A; Matesanz, F (2018). SP140 regulates the expression of immune-related genes associated with multiple sclerosis and other autoimmune diseases by NF-κB inhibition. Human Molecular Genetics, 27(23), 4012-4023. DOI: 10.1093/hmg/ddy284https://doi.org/10.1093/hmg/ddy284
Dose-dependent transcriptomic responses of zebrafish eleutheroembryos to Bisphenol A2018-12-01Martínez, R; Esteve-Codina, A; Herrero-Nogareda, L; Ortiz-Villanueva, E; Barata, C; Tauler, R; Raldúa, D; Piña, B; Navarro-Martín, L (2018). Dose-dependent transcriptomic responses of zebrafish eleutheroembryos to Bisphenol A. Environmental Pollution, 243(pt b), 988-997. DOI: 10.1016/j.envpol.2018.09.043https://doi.org/10.1016/j.envpol.2018.09.043
Walking along chromosomes with super-resolution imaging, contact maps, and integrative modeling2018-12-01Nir, G; Farabella, I; Estrada, CP; Ebeling, CG; Beliveau, BJ; Sasaki, HM; Lee, SD; Nguyen, SC; McCole, RB; Chattoraj, S; Erceg, J; Abed, JA; Martins, (2018). Walking along chromosomes with super-resolution imaging, contact maps, and integrative modeling. Plos Genetics, 14(12), e1007872-. DOI: 10.1371/journal.pgen.1007872https://doi.org/10.1371/journal.pgen.1007872
Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C2018-12-01Cipriani, S; Phan, V; Médard, JJ; Horvath, R; Lochmüller, H; Chrast, R; Roos, A; Spendiff, S (2018). Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C. International Journal Of Molecular Sciences, 19(12), 4072-. DOI: 10.3390/ijms19124072https://doi.org/10.3390/ijms19124072
Scientific Business Abstracts2018-12-01[Anonymous] (2018). Scientific Business Abstracts. Qjm-An International Journal Of Medicine, 111(12), 920-924. DOI: 10.1093/qjmed/hcy193https://doi.org/10.1093/qjmed/hcy193
Identity Noise and Adipogenic Traits Characterize Dermal Fibroblast Aging2018-11-29Salzer, MC; Lafzi, A; Berenguer-Llergo, A; Youssif, C; Castellanos, A; Solanas, G; Peixoto, FO; Attolini, CSO; Prats, N; Aguilera, M; Martín-Caballero (2018). Identity Noise and Adipogenic Traits Characterize Dermal Fibroblast Aging. Cell, 175(6), 1575-+. DOI: 10.1016/j.cell.2018.10.012https://doi.org/10.1016/j.cell.2018.10.012
A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era2018-11-26Thompson, R; Abicht, A; Beeson, D; Engel, AG; Eymard, B; Maxime, E; Lochmüller, H (2018). A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era. Orphanet Journal Of Rare Diseases, 13(1), 211-. DOI: 10.1186/s13023-018-0955-7https://doi.org/10.1186/s13023-018-0955-7
The prevalence and transcriptional activity of the mucosal microbiota of ulcerative colitis patients2018-11-22Moen, AEF; Lindstrom, JC; Tannæs, TM; Vatn, S; Ricanek, P; Vatn, MH; Jahnsen, J (2018). The prevalence and transcriptional activity of the mucosal microbiota of ulcerative colitis patients. Scientific Reports, 8(1), 17278-. DOI: 10.1038/s41598-018-35243-4https://doi.org/10.1038/s41598-018-35243-4
Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48)2018-11-20Genis, D; Ortega-Cubero, S; San Nicolas, H; Corral, J; Gardenyes, J; de Jorge, L; López, E; Campos, B; Lorenzo, E; Tonda, R; Beltran, S; Negre, M; Obó (2018). Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48). Neurology, 91(21), E1988-E1998. DOI: 10.1212/WNL.0000000000006550https://doi.org/10.1212/WNL.0000000000006550
Genomes reveal marked differences in the adaptive evolution between orangutan species2018-11-15Mattle-Greminger, MP; Sonay, TB; Nater, A; Pybus, M; Desai, T; de Valles, G; Casals, F; Scally, A; Bertranpetit, J; Marques-Bonet, T; van Schaik, CP; (2018). Genomes reveal marked differences in the adaptive evolution between orangutan species. Genome Biology, 19(1), 193-. DOI: 10.1186/s13059-018-1562-6https://doi.org/10.1186/s13059-018-1562-6
Interspecific Gene Flow Shaped the Evolution of the Genus Canis2018-11-05Gopalakrishnan, S; Sinding, MHS; Ramos-Madrigal, J; Niemann, J; Castruita, JAS; Vieira, FG; Caroe, C; Montero, MD; Kuderna, L; Serres, A; Gonzalez-Bas (2018). Interspecific Gene Flow Shaped the Evolution of the Genus Canis. Current Biology, 28(21), 3441-+. DOI: 10.1016/j.cub.2018.08.041https://doi.org/10.1016/j.cub.2018.08.041
Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil2018-11-01Estephan, EDP; Zambon, AA; Marchiori, PE; da Silva, AMS; Caldas, VM; Moreno, CAM; Reed, UC; Horvath, R; Töpf, A; Lochmüller, H; Zanoteli, E (2018). Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil. Neuromuscular Disorders, 28(11), 961-964. DOI: 10.1016/j.nmd.2018.08.007https://doi.org/10.1016/j.nmd.2018.08.007
Transcription Factors Drive Tet2-Mediated Enhancer Demethylation to Reprogram Cell Fate2018-11-01Sardina, JL; Collombet, S; Tian, TV; Gómez, A; Di Stefano, B; Berenguer, C; Brumbaugh, J; Stadhouders, R; Segura-Morales, C; Gut, M; Gut, IG; Heath, S (2018). Transcription Factors Drive Tet2-Mediated Enhancer Demethylation to Reprogram Cell Fate. Cell Stem Cell, 23(5), 727-+. DOI: 10.1016/j.stem.2018.08.016https://doi.org/10.1016/j.stem.2018.08.016
GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description2018-11-01Alrohaif, H; Pogoryelova, O; Al-Ajmi, A; Aljeryan, LA; Alrashidi, NH; Alefasi, SA; Urtizberea, A; Lochmüller, H; Bastaki, L (2018). GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description. Muscle & Nerve, 58(5), 700-707. DOI: 10.1002/mus.26337https://doi.org/10.1002/mus.26337