TitleDateAuthorsDOI
DNA methylation in human gastric epithelial cells defines regional identity without restricting lineage plasticity2022-12-01Fritsche, K; Boccellato, F; Schlaermann, P; Koeppel, M; Denecke, C; Link, A; Malfertheiner, P; Gut, I; Meyer, TF; Berger, H (2022). DNA methylation in human gastric epithelial cells defines regional identity without restricting lineage plasticity. Clinical Epigenetics, 14(1), 193-. DOI: 10.1186/s13148-022-01406-4https://doi.org/10.1186/s13148-022-01406-4
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease2022-12-01Rebelo, AP; Ruiz, A; Dohrn, MF; Wayand, M; Farooq, A; Danzi, MC; Beijer, D; Aaron, B; Vandrovcova, J; Houlden, H; Matalonga, L; Abreu, L; Rouleau, G; (2022). BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease. Genetics In Medicine, 24(12), 2487-2500. DOI: 10.1016/j.gim.2022.08.019https://doi.org/10.1016/j.gim.2022.08.019
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice2022-11-21Jennings, MJ; Kagiava, A; Vendredy, L; Spaulding, EL; Stavrou, M; Hathazi, D; Gruneboom, A; De Winter, V; Gess, B; Schara, U; Pogoryelova, O; Lochmull (2022). NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice. Brain, 145(11), 3999-4015. DOI: 10.1093/brain/awac055https://doi.org/10.1093/brain/awac055
Metastatic recurrence in colorectal cancer arises from residual EMP1+ cells2022-11-17Cañellas-Socias, A; Cortina, C; Hernando-Momblona, X; Palomo-Ponce, S; Mulholland, EJ; Turon, G; Mateo, L; Conti, S; Roman, O; Sevillano, M; Slebe, F; (2022). Metastatic recurrence in colorectal cancer arises from residual EMP1+ cells. Nature, 611(7936), 603-613. DOI: 10.1038/s41586-022-05402-9https://doi.org/10.1038/s41586-022-05402-9
The population genomic legacy of the second plague pandemic2022-11-07Gopalakrishnan, S; Ebenesersdottir, SS; Lundstrom, IKC; Turner-Walker, G; Moore, KHS; Luisi, P; Margaryan, A; Martin, MD; Ellegaard, MR; Magnusson, OP (2022). The population genomic legacy of the second plague pandemic. Current Biology, 32(21), 4743-+. DOI: 10.1016/j.cub.2022.09.023https://doi.org/10.1016/j.cub.2022.09.023
Cross-protection against African swine fever virus upon intranasal vaccination is associated with an adaptive-innate immune crosstalk2022-11-01Bosch-Camos, L; Alonso, U; Esteve-Codina, A; Chang, CY; Martin-Mur, B; Accensi, F; Munoz, M; Navas, MJ; Dabad, M; Vidal, E; Pina-Pedrero, S; Pleguezue (2022). Cross-protection against African swine fever virus upon intranasal vaccination is associated with an adaptive-innate immune crosstalk. Plos Pathogens, 18(11), e1010931-. DOI: 10.1371/journal.ppat.1010931https://doi.org/10.1371/journal.ppat.1010931
Estimating heritability of song considering within-individual variance in a wild songbird: The collared flycatcher2022-10-28Jablonszky, M; Canal, D; Hegyi, G; Herenyi, M; Laczi, M; Lao, O; Marko, G; Nagy, G; Rosivall, B; Szasz, E; Torok, J; Zsebok, S; Garamszegi, LZ (2022). Estimating heritability of song considering within-individual variance in a wild songbird: The collared flycatcher. Frontiers In Ecology And Evolution, 10(), 975687-. DOI: 10.3389/fevo.2022.975687https://doi.org/10.3389/fevo.2022.975687
scTAM-seq enables targeted high-confidence analysis of DNA methylation in single cells2022-10-28Bianchi, A; Scherer, M; Zaurin, R; Quililan, K; Velten, L; Beekman, R (2022). scTAM-seq enables targeted high-confidence analysis of DNA methylation in single cells. Genome Biology, 23(1), 229-. DOI: 10.1186/s13059-022-02796-7https://doi.org/10.1186/s13059-022-02796-7
The ulcerative colitis-associated gene FUT8 regulates the quantity and quality of secreted mucins2022-10-19Cantero-Recasens, G; Burballa, C; Ohkawa, Y; Fukuda, T; Harada, Y; Curwin, AJ; Brouwers, N; Thun, GA; Gu, JG; Gut, I; Taniguchi, N; Malhotra, V (2022). The ulcerative colitis-associated gene FUT8 regulates the quantity and quality of secreted mucins. Proceedings Of The National Academy Of Sciences Of The United States Of America, 119(43), e2205277119-. DOI: 10.1073/pnas.2205277119https://doi.org/10.1073/pnas.2205277119
Tackling the translational challenges of multi-omics research in the realm of European personalised medicine: A workshop report2022-10-13Oldoni, E; Saunders, G; Bietrix, F; Bermejo, MLG; Niehues, A; 't Hoen, PAC; Nordlund, J; Hajduch, M; Scherer, A; Kivinen, K; Pitkanen, E; Makela, TP; (2022). Tackling the translational challenges of multi-omics research in the realm of European personalised medicine: A workshop report. Frontiers In Molecular Biosciences, 9(), 974799-. DOI: 10.3389/fmolb.2022.974799https://doi.org/10.3389/fmolb.2022.974799
MiOS, an integrated imaging and computational strategy to model gene folding with nucleosome resolution2022-10-11Neguembor, MV; Arcon, JP; Buitrago, D; Lema, R; Walther, J; Garate, X; Martin, L; Romero, P; Abed, JA; Gut, M; Blanc, J; Lakadamyali, M; Wu, CT; Heath (2022). MiOS, an integrated imaging and computational strategy to model gene folding with nucleosome resolution. Nature Structural & Molecular Biology, 29(10), 1011-+. DOI: 10.1038/s41594-022-00839-yhttps://doi.org/10.1038/s41594-022-00839-y
A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome2022-10-06Keraite, I; Becker, P; Canevazzi, D; Frias-Lopez, C; Dabad, M; Tonda-Hernandez, R; Paramonov, I; Ingham, MJ; Brun-Heath, I; Leno, J; Abuli, A; Garcia- (2022). A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome. Nature Communications, 13(1), 5902-. DOI: 10.1038/s41467-022-33530-3https://doi.org/10.1038/s41467-022-33530-3
Antimicrobial Peptides Can Generate Tolerance by Lag and Interfere with Antimicrobial Therapy2022-10-01Sandin, D; Valle, J; Morata, J; Andreu, D; Torrent, M (2022). Antimicrobial Peptides Can Generate Tolerance by Lag and Interfere with Antimicrobial Therapy. Pharmaceutics, 14(10), 2169-. DOI: 10.3390/pharmaceutics14102169https://doi.org/10.3390/pharmaceutics14102169
The HASTER lncRNA promoter is a cis-acting transcriptional stabilizer of HNF1A2022-10-01Beucher, A; Miguel-Escalada, I; Balboa, D; De Vas, MG; Maestro, MA; Garcia-Hurtado, J; Bernal, A; Gonzalez-Franco, R; Vargiu, P; Heyn, H; Ravassard, P (2022). The HASTER lncRNA promoter is a cis-acting transcriptional stabilizer of HNF1A. Nature Cell Biology, 24(10), 1528-+. DOI: 10.1038/s41556-022-00996-8https://doi.org/10.1038/s41556-022-00996-8
Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature2022-10-01Karimzadeh, P; Najmabadi, H; Lochmuller, H; Babaee, M; Dehdahsi, S; Miryounesi, M; Amirsalari, S; Rayegani, SM; Tonekaboni, SH (2022). Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature. Neuromuscular Disorders, 32(10), 806-810. DOI: 10.1016/j.nmd.2022.08.002https://doi.org/10.1016/j.nmd.2022.08.002
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia2022-10-01Reid, KM; Spaull, R; Salian, S; Barwick, K; Meyer, E; Zhen, J; Hirata, H; Sheipouri, D; Benkerroum, H; Gorman, KM; Papandreou, A; Simpson, MA; Hirano, (2022). MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia. Movement Disorders, 37(10), 2139-2146. DOI: 10.1002/mds.29147https://doi.org/10.1002/mds.29147
RNA-sequencing reveals genes linked with oocyte developmental potential in bovine cumulus cells2022-09-01Martinez-Moro, A; Gonzalez-Brusi, L; Lamas-Toranzo, I; O'Callaghan, E; Esteve-Codina, A; Lonergan, P; Bermejo-Alvarez, P (2022). RNA-sequencing reveals genes linked with oocyte developmental potential in bovine cumulus cells. Molecular Reproduction And Development, 89(9), 399-412. DOI: 10.1002/mrd.23631https://doi.org/10.1002/mrd.23631
Mex3a marks drug-tolerant persister colorectal cancer cells that mediate relapse after chemotherapy2022-09-01Alvarez-Varela, A; Novellasdemunt, L; Barriga, FM; Hernando-Momblona, X; Canellas-Socias, A; Cano-Crespo, S; Sevillano, M; Cortina, C; Stork, D; Morra (2022). Mex3a marks drug-tolerant persister colorectal cancer cells that mediate relapse after chemotherapy. Nature Cancer, 3(9), 1052-+. DOI: 10.1038/s43018-022-00402-0https://doi.org/10.1038/s43018-022-00402-0
Recommendations for whole genome sequencing in diagnostics for rare diseases2022-09-01Souche, E; Beltran, S; Brosens, E; Belmont, JW; Fossum, M; Riess, O; Gilissen, C; Ardeshirdavani, A; Houge, G; van Gijn, M; Clayton-Smith, J; Synofzik (2022). Recommendations for whole genome sequencing in diagnostics for rare diseases. European Journal Of Human Genetics, 30(9), 1017-1021. DOI: 10.1038/s41431-022-01113-xhttps://doi.org/10.1038/s41431-022-01113-x
In silico validation of RNA-Seq results can identify gene fusions with oncogenic potential in glioblastoma2022-08-24Hernandez, A; Munoz-Marmol, AM; Esteve-Codina, A; Alameda, F; Carrato, C; Pineda, E; Arpi-Llucia, O; Martinez-Garcia, M; Mallo, M; Gut, M; del Barco, (2022). In silico validation of RNA-Seq results can identify gene fusions with oncogenic potential in glioblastoma. Scientific Reports, 12(1), 14439-. DOI: 10.1038/s41598-022-18608-8https://doi.org/10.1038/s41598-022-18608-8