GALATÀ G, GARCÍA-MONTERO AC, KRISTENSEN T, el al. Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis. Am J Hum Genet. 2021 Feb 4;108(2):284-294. doi: 10.1016/j.ajhg.2020.12.007.
AGÜERO P, SAINZ MJ, GARCÍA-AYLLÓN MS, et al. α-Secretase nonsense mutation (ADAM10 Tyr167*) in familial Alzheimer's disease. Alzheimers Res Ther. 2020 Oct 31;12(1):139. doi: 10.1186/s13195-020-00708-0.
GONZÁLEZ-TABLAS M, ARANDIA D, JARA-ACEVEDO M, et al. Heterogeneous EGFR, CDK4, MDM4, and PDGFRA Gene Expression Profiles in Primary GBM: No Association with Patient Survival. Cancers (Basel). 2020 Jan 17;12(1):231. doi: 10.3390/cancers12010231
HERRERA-ESPEJO S, SANTOS-ZORROZUA B, ALVAREZ-GONZALEZ P, et al. A Genome-Wide Study of Single-Nucleotide Polymorphisms in MicroRNAs and Further In Silico Analysis Reveals Their Putative Role in Susceptibility to Late-Onset Alzheimer's Disease. Mol Neurobiol. 2020 Sep 6. doi: 10.1007/s12035-020-02103-0
PRIETO-PEÑA D, REMUZGO-MARTÍNEZ S, OCEJO-VINYALS JG, et al. Cranial and extracranial giant cell arteritis share similar HLA-DRB1 association. Semin Arthritis Rheum. 2020 Jul 13;50(5):897-901. doi: 10.1016/j.semarthrit.2020.07.004
CERVÁN-MARTÍN M, SUAZO-SÁNCHEZ MI, RIVERA-EGEA R, et al; Lisbon Clinical Group; IVIRMA Group. Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment. Fertil Steril. 2020 Aug;114(2):398-406. doi: 10.1016/j.fertnstert.2020.02.115
FREIRE-ARADAS A, POŚPIECH E, ALIFERI A, et al. A Comparison of Forensic Age Prediction Models Using Data From Four DNA Methylation Technologies. Front Genet. 2020 Aug 19;11:932. doi: 10.3389/fgene.2020.00932.
DE YÉBENES VG, BRIONES AM, MARTOS-FOLGADO I, et al. Aging-Associated miR-217 Aggravates Atherosclerosis and Promotes Cardiovascular Dysfunction. Arterioscler Thromb Vasc Biol. 2020 Oct;40(10):2408-2424. doi: 10.1161/ATVBAHA.120.314333
LÓPEZ-MEJÍAS R, REMUZGO-MARTÍNEZ S, GENRE F, et al. Influence of MUC5B gene on antisynthetase syndrome. Sci Rep. 2020 Jan 29;10(1):1415. doi: 10.1038/s41598-020-58400-0
LÓPEZ-MEJÍAS R, GENRE F, REMUZGO-MARTÍNEZ S, et al. Influence of IL17A gene on the pathogenesis of immunoglobulin-A vasculitis. Clin Exp Rheumatol. 2020 Mar-Apr;38 Suppl 124(2):166-170. Epub 2020 Mar 25.
TORRES RJ. Toll-Like receptor 4 (TLR4) polymorphism rs2149356 and risk of gout in a Spanish cohort. Nucleosides Nucleotides Nucleic Acids. 2020 Jun 18:1-8. doi: 10.1080/15257770.2020.1780438.
FERNÁNDEZ-PUENTE E, SÁNCHEZ-MARTÍN MA, DE ANDRÉS J, et al. Expression and functional analysis of the hydrogen peroxide biosensors HyPer and HyPer2 in C2C12 myoblasts/myotubes and single skeletal muscle fibres. Sci Rep. 2020 Jan 21;10(1):871. doi: 10.1038/s41598-020-57821-1
SERRA-JUHÉ C, MARTOS-MORENO GA, BOU DE PIERI F, et al. Heterozygous rare genetic variants in non-syndromic early-onset obesity. Int J Obes (Lond) 2020; 44(4): 830–841.
GALLEGO-FABREGA C., CULLELL N., SORIANO-TÁRRAGA C., et al. DNA methylation of MMPs and TIMPs in atherothrombosis process in carotid plaques and blood tissues. Oncotarget. 2020; 11: 905-912.
GOMES C, QUINTERO-BRITO JD, MARTÍNEZ-GÓMEZ J, et al. Spanish allele and haplotype database for 32 X-chromosome Insertion-Deletion polymorphisms. Forensic Sci Int Genet. 2020 Feb 13;46:102262. doi: 10.1016/j.fsigen.2020.102262.
GONZÁLEZ-SERNA D, OCHOA E, LÓPEZ-ISAC E, et al; Scleroderma Genetic Consortium. A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn's disease. Sci Rep. 2020 Feb 5;10(1):1862. doi: 10.1038/s41598-020-58741-w.
LÓPEZ-ISAC E, ACOSTA-HERRERA M, KERICK M, et al; AUSTRALIAN SCLERODERMA INTEREST GROUP (ASIG). GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. Nat Commun. 2019 Oct 31;10(1):4955. doi: 10.1038/s41467-019-12760-y
LÓPEZ-ISAC E, MARTÍN JE, ASSASSI S, et al. Brief Report: IRF4 Newly Identified as a Common Susceptibility Locus for Systemic Sclerosis and Rheumatoid Arthritis in a Cross-Disease Meta-Analysis of Genome-Wide Association Studies. Arthritis Rheumatol. 2016 Sep;68(9):2338-44. doi: 10.1002/art.39730
MÁRQUEZ A, FERNÁNDEZ-ARANGUREN T, WITTE T, et al; Spanish GCA Group; Spanish Scleroderma Group. LILRA3 deficiency is not involved in the giant cell arteritis and systemic sclerosis predisposition. Clin Exp Rheumatol. 2016 Sep-Oct;34 Suppl 100(5):208-209
DÍEZ P, LORENZO S, DÉGANO RM, et al. Multipronged functional proteomics approaches for global identification of altered cell signalling pathways in B-cell chronic lymphocytic leukaemia. Proteomics. 2016 Apr;16(8):1193-203. doi: 10.1002/pmic.201500372.
SÁNCHEZ-JUAN P, MORENO S, DE ROJAS I, et al. The MAPT H1 Haplotype Is a Risk Factor for Alzheimer's Disease in APOE ε4 Non-carriers. Front Aging Neurosci. 2019 Dec 4;11:327. doi: 10.3389/fnagi.2019.00327. eCollection 2019.
FERNÁNDEZ-ARAUJO A, ALFONSO A, VIEYTES MR, BOTANA LM. Yessotoxin activates cell death pathways independent of Protein Kinase C in K-562 human leukemic cell line. Toxicol In Vitro. 2015 Oct;29(7):1545-54. doi: 10.1016/j.tiv.2015.05.013. Epub 2015 May 27
DAIMI H, KHELIL AH, NEJI A, BEN HAMDA K, MAAOUI S, ARANEGA A, BE CHIBANI J, FRANCO D Role of SCN5A coding and non-coding sequences in Brugada syndrome onset: What's behind the scenes?. Biomed J. 2019 Aug;42(4):252-260. doi: 10.1016/j.bj.2019.03.003.
MORENO-GRAU S, DE ROJAS I, HERNÁNDEZ I, et al. Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project. Alzheimers Dement. 2019 Oct;15(10):1333-1347. doi: 10.1016/j.jalz.2019.06.4950.
VELÁZQUEZ C, ESTEBAN-CARDEÑOSA EM, LASTRA E, et al. Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer. Mol Carcinog. 2019 Jan;58(1):156-160. doi: 10.1002/mc.22910