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Investigaciones funcionales en la celiaquía

Líneas de investigación

Estudios funcionales y Biología de Sistemas en enfermedad celíaca.
Inmunogenética de Enfermedades Complejas autoinmunes (Diabetes tipo 1 y enfermedad celíaca).

Foto grupo

Actividades del grupo

El objetivo de nuestro grupo es descifrar la compleja desregulación genética que predispone a la enfermedad celíaca, una enfermedad autoimmune que afecta al 2% de la población y que resulta un modelo de desorden humano eficaz debido a la disponibilidad, hasta la fecha, de biopsias de diagnóstico y seguimiento.

Nuestro trabajo se ha centrado sobre todo en estudios de asociación, de expresión y de variación en número de copias de genes candidato, así como en la identificación de nuevos genes y rutas metabólicas implicadas en la patogénesis de la enfermedad celíaca. Para ello, hemos utilizado técnicas como Real Time PCR, secuenciación y pirosecuenciación de DNA, diferentes plataformas de expresión génica y genotipado y múltiples herramientas bioinformáticas para el análisis de rutas biológicas y la selección de genes y vías de señalización que confieran susceptibilidad a nuestra enfermedad diana. Recientemente, nuestro grupo identificó las rutas más significativamente desreguladas en la enfermedad celíaca activa por medio de un estudio de expresión de todo el genoma, señalando algunas vías de señalización que pudieran ser las responsables de la inflamación sostenida presente en el intestino celíaco.

A día de hoy, nuestro grupo está trabajando en el análisis más a fondo de algunas de estas relevantes rutas metabólicas, evitando los clásicos estudios gen a gen e intentando obtener una fotografía más global de los diferentes procesos biológicos que se esconden detrás de la enfermedad. Por otro lado, estamos apostando por abrir nuevos frentes en el campo de la epigenética, mediante el estudio de la regulación génica por metilación y miRNAs, y en el campo del análisis funcional, ampliando nuestro espectro mediante ensayos en modelos celulares y estudios de proteínas.

Coordinador/a del grupo



Miembros del grupo

  Ainara Castellanos Rubio
 
  Iñaki Xarles Irastorza Terradillos
 
 
  Maria Legarda Tamara
 
 
  Silvia Martínez Velasco
 
 
  Elena Merino Acero
 
 
  Olga Merino Ochoa
 
 
  Ane Olazagoitia Garmendia
 
  Carolina Sagasti Pérez
 
 
  Arantza sainz-Espiga Resines
 
  Maialen Sebastian de la Cruz
 
  Carlos Tutau Gomez
 
 
  Sergi Mari Alemany
 
  Henar Rojas Marquez
 
 
  Alba Hernangomez Laderas
 
 
  Nora Fernández Jiménez
 
 
  Ariadna Cilleros Portet
 

Publicaciones del grupo

Barreiro de Acosta M, Riestra S, Calafat M, Soto MP, Calvo M, Sanchez Rodriguez E, et al. Management and long-term outcomes of Crohn's disease complicated with enterocutaneous fistula: ECUFIT study from GETECCU. J Crohns Colitis. 2022; 16(7): 1049-1058. DOI:10.1093/ecco-jcc/jjac016.

Galarreta Rodriguez I, Marcano L, Castellanos Rubio I, de Muro IG, Garcia I, Olivi L, et al. Towards the design of contrast-enhanced agents: systematic Ga3+ doping on magnetite nanoparticles. Dalton Trans. 2022; 51(6): 2517-2530. DOI:10.1039/d1dt03029a.

Gutierrez A, Zapater P, Ricart E, Gonzalez Vivo M, Gordillo J, Olivares D, et al. Immigrant IBD Patients in Spain Are Younger, Have More Extraintestinal Manifestations and Use More Biologics Than Native Patients. Front Med. 2022; 9: 823900-823900. DOI:10.3389/fmed.2022.823900.

Chaparro M, Baston Rey I, Fernandez Salgado E, Gonzalez Garcia J, Ramos L, Diz Lois Palomares MT, et al. Long-Term Real-World Effectiveness and Safety of Ustekinumab in Crohn's Disease Patients: The SUSTAIN Study. Inflamm Bowel Dis. 2022. DOI:10.1093/ibd/izab357.

Perez Junkera G, Vazquez Polo M, Eizagirre FJ, Benjumea L, Tutau C, Esteban B, et al. Application of a Platform for Gluten-Free Diet Evaluation and Dietary Advice: From Theory to Practice. Sensors (Basel). 2022; 22(3). DOI:10.3390/s22030732.

Castellanos Rubio A, Ghosh S. Functional Implications of Intergenic GWAS SNPs in Immune-Related LncRNAs. AdvExpMedBiol. 2022; 1363: 147-160. DOI:10.1007/978-3-030-92034-0_8.

Sarzo B, Ballesteros V, Iniguez C, Manzano Salgado CB, Casas M, Llop S, et al. Response to "Comment on Maternal Perfluoroalkyl Substances, Thyroid Hormones, and DIO Genes: A Spanish Cross-sectional Study: Predictability of Multiple Imputations for Large Amounts of Missing Data". Environ Sci Technol. 2022; 56(8): 5278-5282. DOI:10.1021/acs.est.2c01177.

Batista G, Marin Jimenez I, Fores A, Garcia Planella E, Arguelles Arias F, Tagarro I, et al. Treatment patterns and intensification within 5 year of follow-up of the first-line anti-TNF alpha used for the treatment of IBD: Results from the VERNE study. Dig Liver Dis. 2022; 54(1): 76-83. DOI:10.1016/j.dld.2021.06.005.

Garcia Etxebarria K, Merino O, Gaite Reguero A, Rodrigues PM, Herrarte A, Etxart A, et al. Local genetic variation of inflammatory bowel disease in Basque population and its effect in risk prediction. Sci Rep. 2022; 12(1): 3386-3386. DOI:10.1038/s41598-022-07401-2.

Rueda Martinez A, Gonzalez Garcia BP, Garitazelaia A, Cilleros Portet A, Mari S, Arauzo R, et al. Genetic basis of endometriosis in the susceptibility of developing gynecological cancers. Eur J Hum Genet. 2022; 30(SUPPL 1): 95-95

Cosin Tomas M, Cilleros Portet A, Aguilar Lacasana S, Fernandez Jimenez N, Bustamante M. Prenatal Maternal Smoke, DNA Methylation, and Multi-omics of Tissues and Child Health. Curr Environ Health Rep. 2022; 9(3): 502-512. DOI:10.1007/s40572-022-00361-9.

Cilleros Portet A, Mari S, Gonzalez Garcia BP, Garcia Santisteban I, Bustamante M, Marina LS, et al. Characterization of placental methylation quantitative trait loci. Eur J Hum Genet. 2022; 30(SUPPL 1): 554-554

Castellanos Rubio I, Baron A, Luis Lizarraga O, Rodrigo I, de Muro IG, Orue I, et al. Efficient Magneto-Luminescent Nanosystems based on Rhodamine-Loaded Magnetite Nanoparticles with Optimized Heating Power and Ideal Thermosensitive Fluorescence. ACS Appl Mater Interfaces. 2022. DOI:10.1021/acsami.2c14016.

Garitazelaia A, Rueda Martinez A, Arauzo R, de Miguel J, Cilleros Portet A, Mari S et al. A Systematic Two-Sample Mendelian Randomization Analysis Identifies Shared Genetic Origin of Endometriosis and Associated Phenotypes. Life (Basel). 2021; 11(1). DOI:10.3390/life11010024.

Canive M, Fernandez Jimenez N, Casais R, Vazquez P, Lavin JL, Bilbao JR et al. Identification of loci associated with susceptibility to bovine paratuberculosis and with the dysregulation of the MECOM, eEF1A2, and U1 spliceosomal RNA expression. Sci Rep. 2021; 11(1): 313-313. DOI:10.1038/s41598-020-79619-x.

Sebastian delaCruz M, Gonzalez Moro I, Olazagoitia Garmendia A, Castellanos Rubio A, Santin I. The Role of lncRNAs in Gene Expression Regulation through mRNA Stabilization. Non-coding RNA. 2021; 7(1). DOI:10.3390/ncrna7010003.

Olazagoitia Garmendia A, Zhang L, Mera P, Godbout JK, Sebastian delaCruz M, Garcia I et al. Gluten-induced RNA methylation changes regulate intestinal inflammation via allele-specific XPO1 translation in epithelial cells. Gut. 2021; 71(1): 68-76. DOI:10.1136/gutjnl-2020-322566.

Bermejo F, Jimenez L, Algaba A, Vela M, Bastida G, Merino O et al. Re-induction With Intravenous Ustekinumab in Patients With Crohn's Disease and a Loss of Response to This Therapy. Inflamm Bowel Dis. 2021; 28(1): 41-47. DOI:10.1093/ibd/izab015.

Urrutia I, Martin Nieto A, Martinez R, Casanovas Marsal JO, Aguayo A, Del Olmo J et al. Incidence of diabetes mellitus and associated risk factors in the adult population of the Basque country, Spain. Sci Rep. 2021; 11(1): 3016-3016. DOI:10.1038/s41598-021-82548-y.

Garcia Santisteban I, Romero Garmendia I, Cilleros Portet A, Bilbao JR, Fernandez Jimenez N. Celiac disease susceptibility: The genome and beyond. Int Rev Cell Mol Biol. 2021; 358: 1-45. DOI:10.1016/bs.ircmb.2020.10.002.

Olazagoitia Garmendia A, Sebastian delaCruz M, Castellanos Rubio A. Involvement of lncRNAs in celiac disease pathogenesis. Int Rev Cell Mol Biol. 2021; 358: 241-264. DOI:10.1016/bs.ircmb.2020.10.004.

Garcia Santisteban I, Llopis A, Krenning L, Vallejo Rodriguez J, van den Broek B, Zubiaga AM et al. Sustained CHK2 activity, but not ATM activity, is critical to maintain a G1 arrest after DNA damage in untransformed cells. BMC Biol. 2021; 19(1). DOI:10.1186/s12915-021-00965-x.

Olazagoitia Garmendia A, Castellanos Rubio A. Relative Quantification of Residue-Specific m6A RNA Methylation Using m6A-RT-QPCR. Methods Mol Biol. 2021; 2298: 185-195. DOI:10.1007/978-1-0716-1374-0_12.

Sebastian delaCruz M, Olazagoitia Garmendia A, Madrigal AH, Garcia Etxebarria K, Mendoza LM, Fernandez Jimenez N et al. A Novel Noninvasive Method Based on Salivary Inflammatory Biomarkers for the Screening of Celiac Disease. Cell Mol Gastroenterol Hepatol. 2021; 12(4). DOI:10.1016/j.jcmgh.2021.05.016.

Castellanos Rubio I, Arriortua O, Marcano L, Rodrigo I, Iglesias Rojas D, Baron A et al. Shaping Up Zn-Doped Magnetite Nanoparticles from Mono- and Bimetallic Oleates: The Impact of Zn Content, Fe Vacancies, and Morphology on Magnetic Hyperthermia Performance. Chem Mat. 2021; 33(9): 3139-3154. DOI:10.1021/acs.chemmater.0c04794.

Rueda Martinez A, Garitazelaia A, Cilleros Portet A, Mari S, Arauzo R, de Miguel J et al. Genetic Contribution of Endometriosis to the Risk of Developing Hormone-Related Cancers. Int J Mol Sci. 2021; 22(11). DOI:10.3390/ijms22116083.

Gonzalez Moro I, Sebastian delaCruz M, Rojas Marquez H, Olazagoitia Garmendia A, Mentxaka J, Mendoza LM et al. A long non-coding RNA that harbors a SNP associated with insulin levels regulates TGM2 gene expression in pancreatic beta cells. Diabetologia. 2021; 64(SUPPL 1): 8-9

Sarzo B, Ballesteros V, Iniguez C, Manzano Salgado CB, Casas M, Llop S et al. Maternal Perfluoroalkyl Substances, Thyroid Hormones, and DIO Genes: A Spanish Cross-sectional Study. Environ Sci Technol. 2021; 55(16): 11144-11154. DOI:10.1021/acs.est.1c01452.

Everson TM, Vives Usano M, Seyve E, Cardenas A, Lacasana M, Craig JM et al. Placental DNA methylation signatures of maternal smoking during pregnancy and potential impacts on fetal growth. Nat Commun. 2021; 12(1). DOI:10.1038/s41467-021-24558-y.

Sainz E, Zabana Y, Miguel I, Fernandez Clotet A, Beltran B, Nunez L et al. Clinical features, therapeutic requirements and evolution of patients with Crohn's disease and upper gastrointestinal involvement (CROHNEX study). Aliment Pharmacol Ther. 2021; 54(8): 1041-1051. DOI:10.1111/apt.16547.

Sklias A, Halaburkova A, Vanzan L, Jimenez NF, Cuenin C, Bouaoun L et al. Epigenetic remodelling of enhancers in response to estrogen deprivation and re-stimulation. Nucleic Acids Res. 2021; 49(17): 9738-9754. DOI:10.1093/nar/gkab697.

Bermejo F, Jimenez L, Algaba A, Vela M, Bastida G, Merino O et al. Corrigendum to: Re-induction With Intravenous Ustekinumab in Patients With Crohn's Disease and a Loss of Response to This Therapy. Inflamm Bowel Dis. 2021; 28(1): 150-150. DOI:10.1093/ibd/izab242.

Olaechea Lazaro S, Garcia Santisteban I, Pineda JR, Badiola I, Alonso S, Bilbao JR et al. shinyCurves, a shiny web application to analyse multisource qPCR amplification data: a COVID-19 case study. BMC Bioinformatics. 2021; 22(1). DOI:10.1186/s12859-021-04392-1.

Canive M, Fernandez Jimenez N, Casais R, Vazquez P, Lavin JL, Bilbao JR et al. Author Correction: Identification of loci associated with susceptibility to bovine paratuberculosis and with the dysregulation of the MECOM, eEF1A2, and U1 spliceosomal RNA expression. Sci Rep. 2021; 11(1): 21337-21337. DOI:10.1038/s41598-021-00840-3.

Calafat M, Manosa M, Ricart E, Nos P, Iglesias Flores E, Vera I et al. Risk of immunomediated adverse events and loss of response to infliximab in elderly patients with inflammatory bowel disease. A cohort study of the ENEIDA registry. J Crohns Colitis. 2021. DOI:10.1093/ecco-jcc/jjab213.

Deza DC, Calvo LJL, Mainar J, Ricart E, Gisbert JP, Tirado MR et al. Effectiveness and safety of ustekinumab in elderly patients: Real world evidence from ENEIDA registry. J Crohns Colitis. 2021; 15: 298-299. DOI:10.1093/ecco-jcc/jjab076.388.

Rodriguez Lago I, Fernandez Clotet A, Mesonero F, Garcia Alonso FJ, Casanova MJ, Fernandez de la Varga M et al. Long-term outcomes of biologic therapy in Crohn's disease complicated with internal fistulizing disease: BIOSCOPE study from GETECCU. J Crohns Colitis. 2021; 15: 377-378. DOI:10.1093/ecco-jcc/jjab076.481.

Ciria MM, Calafat M, Ricart E, Nos P, Iglesias E, Riestra S et al. Management and outcome of postoperative Crohn's Disease in the elderly as compared to young adults: Data from Eneida registry. J Crohns Colitis. 2021; 15: 69-70. DOI:10.1093/ecco-jcc/jjab073.070.

Garcia Romero R, Fernandez JMMD, Pujol Muncunill G, Donat Aliaga E, Segarra Canton O, Irastorza Terradillos I et al. Safety and effectiveness of vedolizumab in paediatric patients with inflammatory bowel disease: an observational multicentre Spanish study. Eur J Pediatr. 2021; 180(9): 3029-3038. DOI:10.1007/s00431-021-04063-6.

Rodriguez Lago I, Castro Poceiro J, Fernandez Clotet A, Mesonero F, Lopez Sanroman A, Lopez Garcia A, et al. Tacrolimus induces short-term but not long-term clinical response in inflammatory bowel disease. Aliment Pharmacol Ther. 2020; 51(9): 870-879. DOI:10.1111/apt.15687.

Rodriguez Lago I, Del Hoyo J, Casanova MJ, Fernandez Clotet A, Garcia MJ, Ferreiro Iglesias R, et al. Long-term effectiveness of anti-TNF agents in symptomatic stricturing Crohn's disease. J Crohns Colitis. 2020; 14: 467-468

Rodriguez Lago I, Merino O, Azagra I, Maiz A, Zapata E, Higuera R, et al. Risk of progression of preclinical ulcerative colitis. J Crohns Colitis. 2020; 14: 238-239

Aldaregia J, Errarte P, Olazagoitia Garmendia A, Gimeno M, Uriz JJ, Gershon TR, et al. Erbb4 Is Required for Cerebellar Developmentand Malignant Phenotype of Medulloblastoma. Cancers (Basel). 2020; 12(4). DOI:10.3390/cancers12040997.

Agliata I, Fernandez Jimenez N, Goldsmith C, Marie JC, Bilbao JR, Dante R, et al. The DNA methylome of inflammatory bowel disease (IBD) reflects intrinsic and extrinsic factors in intestinal mucosal cells. Epigenetics. 2020; 15(10): 1-15. DOI:10.1080/15592294.2020.1748916.

Gonzalez Moro I, Olazagoitia Garmendia A, Colli ML, Cobo Vuilleumier N, Postler TS, Marselli L, et al. The T1D-associated lncRNA Lnc13 modulates human pancreatic beta cell inflammation by allele-specific stabilization of STAT1 mRNA. Proc Natl Acad Sci U S A. 2020; 117(16): 9022-9031. DOI:10.1073/pnas.1914353117.

Gonzalez Lamuno D, Irastorza I, Andrade F, Aldamiz Echevarria L. Vacuolated lymphocytes of blood smears in the diagnoses of lysosomal disorders. Mol Genet Metab. 2020; 129(2): 66-66. DOI:10.1016/j.ymgme.2019.11.154.

Gonzalez Lamuno D, Irastorza I, Andrade F, Gutierrez Larranaga M, San Segundo D, Aldamiz Echevarria L. Expression levels of the mono carboxylate transporter MCT1 in erythrocytes from patients with Fabry disease and predominant hypertrophic myocardiopathy. Mol Genet Metab. 2020; 129(2): 65-66. DOI:10.1016/j.ymgme.2019.11.153.

Rodriguez Lago I, Ramirez de la Piscina P, Elorza A, Merino O, Ortiz de Zarate J, Cabriada JL. Characteristics and prognosis of patients with inflammatory bowel disease during the SARS-CoV-2 pandemic in the Basque Country (Spain). Gastroenterology. 2020; 159(2): 781-783. DOI:10.1053/j.gastro.2020.04.043.

Marin Jimenez I, Bastida G, Forés A, Garcia Planella E, Argüelles Arias F, Sarasa P, et al. Impact of comorbidities on anti-TNFa response and relapse in patients with inflammatory bowel disease: the VERNE study. BMJ Open Gastroenterol. 2020; 7(1). DOI:10.1136/bmjgast-2019-000351.

Chaparro M, Garre A, Mesonero F, Rodriguez C, Barreiro de Acosta M, Martinez Cadilla J, et al. Tofacitinib in ulcerative colitis: Real-world evidence from Eneida Registry. J Crohns Colitis. 2020; 14: 26-28

Uribe Etxebarria V, Garcia Gallastegui P, Perez Garrastachu M, Casado Andres M, Irastorza I, Unda F, et al. Wnt-3a Induces Epigenetic Remodeling in Human Dental Pulp Stem Cells. Cells. 2020; 9(3). DOI:10.3390/cells9030652.

Koroknai V, Szasz I, Hernandez Vargas H, Fernandez Jimenez N, Cuenin C, Herceg Z, et al. DNA hypermethylation is associated with invasive phenotype of malignant melanoma. Exp Dermatol. 2020; 29(1): 39-50. DOI:10.1111/exd.14047.

Castellanos Rubio I, Rodrigo I, Olazagoitia Garmendia A, Arriortua O, Gil de Muro I, Garitaonandia JS, et al. Highly Reproducible Hyperthermia Response in Water, Agar and Cellular Environment by Discretely PEGylated Magnetite Nanoparticles. ACS Appl Mater Interfaces. 2020; 12(25): 27917-27929. DOI:10.1021/acsami.0c03222.

Rodriguez Lago I, Ramirez C, Merino O, Azagra I, Maiz A, Zapata E, et al. Early microscopic findings in preclinical inflammatory bowel disease. Dig Liver Dis. 2020; 52(12): 1467-1472. DOI:10.1016/j.dld.2020.05.052.

Ruth N, Sharif K, Legarda M, Smith M, Lewis P, Lloyd C, et al. What is the long-term outlook for young people following liver transplant? A single-centre retrospective analysis of physical and psychosocial outcomes. Pediatr Transplant. 2020; 24(7): 13782-13782. DOI:10.1111/petr.13782.

Fernandez E, Cortazar A, Bellido V. Impact of covid-19 lockdown on glycemic control in patients with type 1 diabetes. Diabetes Res Clin Pract. 2020; 166: 108348-108348. DOI:10.1016/j.diabres.2020.108348.

Rodriguez Lago I, Hoyo JD, Perez Girbes A, Garrido Marin A, Casanova MJ, Chaparro M, et al. Early treatment with anti-tumor necrosis factor agents improves long-term effectiveness in symptomatic stricturing Crohn's disease. United European Gastroenterol J. 2020; 8(9): 1056-1066. DOI:10.1177/2050640620947579.

Vogelezang S, Bradfield JP, Ahluwalia TS, Curtin JA, Lakka TA, Grarup N, et al. Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits. PLoS Genet. 2020; 16(10): 1008718-1008718. DOI:10.1371/journal.pgen.1008718.

Vandriel S, Li LT, She HY, Wang JS, Gilbert MA, Spinner NB, et al. PHENOTYPIC DIVERGENCE OF JAGGED1 AND NOTCH2-ASSOCIATED ALAGILLE SYNDROME: RESULTS FROM THE INTERNATIONAL MULTICENTER GALA STUDY GROUP. Hepatology. 2020; 72: 882-884

Sebastian delaCruz M, Olazagoitia Garmendia A, Gonzalez Moro I, Santin I, Garcia Etxebarria K, Castellanos Rubio A. Implication of m6A mRNA Methylation in Susceptibility to Inflammatory Bowel Disease. Epigenomes. 2020; 4(3). DOI:10.3390/epigenomes4030016.

Roa Esparza I, Gonzalez Ocio J, Merino Ochoa O. Acute gastric dilatation in a patient with anorexia nervosa. Rev Esp Enferm Dig. 2020; 113(4): 302-302. DOI:10.17235/reed.2020.7235/2020.

Garcia Santisteban I, Cilleros Portet A, Moyua E, Kurilshikov A, Zhernakova A, Garcia Etxebarria K, et al. Causal effects of gut microbiota on celiac disease: a two-sample mendelian randomization approach. Eur J Hum Genet. 2020; 28(SUPPL 1): 707-707

Gonzalez Moro I, Olazagoitia Garmendia A, Colli ML, Cobo Vuilleumier N, Postler TS, Marselli L, et al. The T1D-associated lncRNA Lnc13 modulates human pancreatic ss-cell inflammation by allele-specific stabilization of STAT1 mRNA. Eur J Hum Genet. 2020; 28(SUPPL 1): 998-998

Olazagoitia Garmendia A, Zhang L, Mera P, Irastorza I, Serra D, Herrero L, et al. SNP rs3087898 located next to m6A motif influences gluten-induced RNA methylation changes that regulate intestinal inflammation via allele-specific XPO1 translation. Eur J Hum Genet. 2020; 28(SUPPL 1): 757-758

Zenarruzabeitia O, Vitallé J, Terrén I, Orrantia A, Astigarraga I, Dopazo L, et al. CD300c costimulates IgE-mediated basophil activation, and its expression is increased in patients with cow's milk allergy. J Allergy Clin Immunol. 2019; 143(2): 700-7115. DOI:10.1016/j.jaci.2018.05.022.

Fernandez Jimenez N, Garcia Etxebarria K, Plaza Izurieta L, Romero Garmendia I, Jauregi Miguel A, Legarda M, et al. The methylome of the celiac intestinal epithelium harbours genotype-independent alterations in the HLA region. Sci Rep. 2019; 9(1): 1298-1298. DOI:10.1038/s41598-018-37746-6.

Dos Santos RS, Marroqui L, Velayos T, Olazagoitia Garmendia A, Jauregi Miguel A, Castellanos Rubio A, et al. DEXI, a candidate gene for type 1 diabetes, modulates rat and human pancreatic beta cell inflammation via regulation of the type I IFN/STAT signalling pathway. Diabetologia. 2019; 62(3): 459-472. DOI:10.1007/s00125-018-4782-0.

Middeldorp CM, Felix JF, Mahajan A, EArly Genetics Lifecourse Epidemiology (EAGLE) C, Early Growth Genetics (EGG) C, McCarthy MI. The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia: design, results and future prospects. Eur J Epidemiol. 2019; 34(3): 279-300. DOI:10.1007/s10654-019-00502-9.

Rodriguez Lago I, Castro Poceiro J, Fernandez Clotet A, Mesonero F, Lopez Sanroman A, Lopez Garcia A, et al. Efficacy and safety of tacrolimus in Crohn's disease: a nationwide, multi-centric study from GETECCU. J Crohns Colitis. 2019; 13(1): 207-208. DOI:10.1093/ecco-jcc/jjy222.347.

Rodriguez Lago I, Castro Poceiro J, Fernandez Clotet A, Mesonero F, Lopez Sanroman A, Lopez Garcia A, et al. Efficacy and safety of tacrolimus in ulcerative colitis: a nationwide, multi-centre study from GETECCU. J Crohns Colitis. 2019; 13(1): 52-53. DOI:10.1093/ecco-jcc/jjy222.078.

Rodríguez Lago I, Merino O, López de Goicoechea MJ, Aranzamendi M, Zubiaurre L, Muro N, et al. Immunosuppression for inflammatory bowel disease does not influence Epstein-Barr viral load in the short-term. Gastroenterol Hepatol. 2019; 42(9): 542-547. DOI:10.1016/j.gastrohep.2019.03.016.

Cielo D, Galatola M, Fernandez Jimenez N, De Leo L, Garcia Etxebarria K, Loganes C, et al. Combined Analysis of Methylation and Gene Expression Profiles in Separate Compartments of Small Bowel Mucosa Identified Celiac Disease Patients' Signatures. Sci Rep. 2019; 9. DOI:10.1038/s41598-019-46468-2.

Castellanos Rubio A, Santin I, Olazagoitia Garmendia A, Romero Garmendia I, Jauregi Miguel A, Legarda M, et al. A novel RT-QPCR-based assay for the relative quantification of residue specific m6A RNA methylation. Sci Rep. 2019; 9. DOI:10.1038/s41598-019-40018-6.

Castellanos Rubio A, Ghosh S. Disease-Associated SNPs in Inflammation-Related lncRNAs. Front Immunol. 2019; 10: 420-420. DOI:10.3389/fimmu.2019.00420.

Ochoa E, Zuber V, Fernandez Jimenez N, Bilbao JR, Clark GR, Maher ER, et al. MethylCal: Bayesian calibration of methylation levels. Nucleic Acids Res. 2019; 47(14). DOI:10.1093/nar/gkz325.

Romero Garmendia I, Fernandez Jimenez N, Garcia Etxebarria K, Jauregi Miguel A, Olazagoitia Garmendia A, Santin I, et al. Where SNPs, coexpression and TADs intersect: new insights in the regulation of coexpression in celiac disease. Eur J Hum Genet. 2019; 27(1): 606-607

Fernandez Jimenez N, Romero Garmendia I, Garcia Etxebarria K, Jauregi Miguel A, Irastorza I, Bilbao JR. TAP1 and HLA-B genes in the HLA region are hypomethylated and overexpressed in celiac duodenal cell populations. Eur J Hum Genet. 2019; 27(1): 608-608

Fernandez Jimenez N, Ramon Bilbao J. Mendelian randomization analysis of celiac GWAS reveals a blood expression signature with diagnostic potential in absence of gluten consumption. Hum Mol Genet. 2019; 28(18): 3037-3042. DOI:10.1093/hmg/ddz113.

Patil V, Cuenin C, Chung F, Aguilera JRR, Fernandez Jimenez N, Romero Garmendia I, et al. Human mitochondrial DNA is extensively methylated in a non-CpG context. Nucleic Acids Res. 2019; 47(19): 10072-10085. DOI:10.1093/nar/gkz762.

Sanchez C, Hernani MT, Alvarez Calatayud G, Miranda Cid C, Manuel Navas V, Marin Jimenez I, et al. Status of transition care in inflammatory bowel disease in Spain. Different medical perspectives. Rev Esp Enferm Dig. 2019; 111(11): 833-838. DOI:10.17235/reed.2019.6310/2019.

Ochoa E, Zuber V, Fernandez Jimenez N, Bilbao JR, Clark G, Maher ER, et al. MethylCal: Bayesian calibration of methylation levels. Eur J Hum Genet. 2019; 27(2): 1648-1648

Fernandez Jimenez N, Bilbao JR. Mendelian Randomization analysis of celiac GWAS reveals a blood expression signature with diagnostic potential in absence of gluten consumption. Eur J Hum Genet. 2019; 27(2): 1708-1708

Olazagoitia Garmendia A, Rodriguez J, Bilbao J, Castellanos Rubio A. An inflammation-related SNP in XPO1 5 ` UTR regulates protein amount by altering m6A mRNA methylation. Eur J Hum Genet. 2019; 27(1): 627-627

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Santin I, Jauregi Miguel A, Velayos T, Castellanos Rubio A, Garcia Etxebarria K, Romero Garmendia I, et al. Celiac Diasease-associated lncRNA Named HCG14 Regulates NOD1 Expression in Intestinal Cells. J Pediatr Gastroenterol Nutr. 2018; 67(2): 225-231. DOI:10.1097/MPG.0000000000001970.

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Olazagoitia Garrnendia A, Santin I, Castellanos Rubio A. Functional implication of celiac disease associated lncRNAs in disease pathogenesis. Comput Biol Med. 2018; 102: 369-375. DOI:10.1016/j.compbiomed.2018.08.013.

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Castellanos Rubio A, Kratchmarov R, Sebastian M, Garcia Etxebarria K, Garcia L, Irastorza I, et al. Cytoplasmic Form of Carlr lncRNA Facilitates Inflammatory Gene Expression upon NF-kappa B Activation. J Immunol. 2017; 199(2): 581-588. DOI:10.4049/jimmunol.1700023.

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Escudero Hernandez C, Plaza Izurieta L, Garrote JA, Ramon Bilbao J, Arranz E, C. Association of the IL-15 and IL-15R alpha genes with celiac disease. Cytokine. 2017; 99: 73-79. DOI:10.1016/j.cyto.2017.07.009.

Tentelier C, Barroso Gomila O, Lepais O, Manicki A, Romero Garmendia I, Jugo BM. Testing mate choice and overdominance at MH in natural families of Atlantic salmon Salmo salar. J Fish Biol. 2017; 90(4): 1644-1659. DOI:10.1111/jfb.13260.

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Castellanos Rubio I, Insausti M, de Muro IG, Arias Duque DC, Hernandez Garrido JC, Lezama L. Intra-particle chemical homogeneity determining the exchange coupling in palladium-iron nanoparticles. J Appl Phys. 2017; 121(8). DOI:10.1063/1.4976966.

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Castellanos Rubio A, Fernandez Jimenez N, Kratchmarov R, Luo X, Bhagat G, Green PHR, et al. A long noncoding RNA associated with susceptibility to celiac disease. Science. 2016; 352(6281): 91-95. DOI:10.1126/science.aad0467.

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Garcia Etxebarria K, Jauregi Miguel A, Romero Garmendia I, Plaza Izurieta L, Legarda M, Irastorza I, et al. Ancestry-based stratified analysis of Immunochip data identifies novel associations with celiac disease. Eur J Hum Genet. 2016; 24(12): 1831-1834. DOI:10.1038/ejhg.2016.120.

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Castellanos Rubio I, Insausti M, de Muro IG, Rojo T, Lezama L. Tuning the Size of Palladium Nanoparticles in Organic and Aqueous Solutions: Influence of Aminated and Thiolated Ligands. J Nanosci Nanotechnol. 2016; 16(4): 4071-4079. DOI:10.1166/jnn.2016.11711.

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Villafranca CM, Higuera R, Merino O, Nantes O, de la Piscina PR, Munagorri A, et al. Adalimumab treatment in Ulcerative Colitis patients who are naive to anti-TNF: Week 8 of our pilot study. J Crohns Colitis. 2015; 9(1): 249-249

Plaza Izurieta L, Fernandez Jimenez N, Irastorza I, Jauregi Miguel A, Romero Garmendia I, Carlos Vitoria J, et al. Expression analysis in intestinal mucosa reveals complex relations among genes under the association peaks in celiac disease. Eur J Hum Genet. 2015; 23(8): 1100-1105. DOI:10.1038/ejhg.2014.244.

Plaza Izurieta L, Fernandez Jimenez N, Irastorza I, Jauregi Miguel A, Romero Garmendia I, Carlos Vitoria J, et al. Expression analysis in intestinal mucosa reveals complex relations among genes under the association peaks in celiac disease. Eur J Hum Genet. 2015; 23(8): 1100-1105. DOI:10.1038/ejhg.2014.244.

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Fernandez Jimenez N, Castellanos Rubio A, Plaza Izurieta L, Irastorza I, Elcoroaristizabal X, Jauregi Miguel A, et al. Coregulation and modulation of NF kappa B-related genes in celiac disease: uncovered aspects of gut mucosal inflammation. Hum Mol Genet. 2014; 23(5): 1298-1310. DOI:10.1093/hmg/ddt520.

Fernandez Jimenez N, Castellanos Rubio A, Plaza Izurieta L, Irastorza I, Elcoroaristizabal X, Jauregi Miguel A, et al. Coregulation and modulation of NF kappa B-related genes in celiac disease: uncovered aspects of gut mucosal inflammation. Hum Mol Genet. 2014; 23(5): 1298-1310. DOI:10.1093/hmg/ddt520.

Axpe E, Lopez Euba T, Castellanos Rubio A, Merida D, Garcia JA, Plaza Izurieta L, et al. Detection of Atomic Scale Changes in the Free Volume Void Size of Three-Dimensional Colorectal Cancer Cell Culture Using Positron Annihilation Lifetime Spectroscopy. PLoS One. 2014; 9(1). DOI:10.1371/journal.pone.0083838.

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Tesis del grupo

Autor/a: Inés Urrutia Etxebarria . Título: "Secuenciación masiva aplicada al diagnóstico de diabetes monogénica en pacientes pediátricos con sospecha de diabetes tipo 1 y marcadores de autoinmunidad negativos". Directores/as: Dr. Luis Antonio Castaño González, Dr. José Ramón Bilbao Catalá.

Autor/a: Idoia Martínez de Lapiscina Martin. Título: "Clinical ande molecular characterization of DSD patients: Impact of next generation sequencing in diagnosis ". Directores/as: Dr. Luis Castaño González, Dr. José Ramón Bilbao Catalá.

Autor/a: Irati Romero Garmendia . Título: "Identification Of Genetic And Epigenetic Regulators In Celiac Disease Through Computational And Experimental Approaches | Erregulatzaile Genetiko Eta Epigenetikoen Identifikazioa Eritasun Zeliakoan Hurbilketa Konputazional Eta Esperimentalen Bidez". Directores/as: Dr. Jose Ramon Bilbao Catalá, Dra. Nora Fernández Jiménez.

Autor/a: Amaia Jauregi Miguel. Título: ""Insuficiencia renal en el mieloma múltiple. Análisis de factores pronósticos"". Directores/as: Dr. José Ramón Bilbao Catalá, Dra. Ainara Castellanos Rubio.

Autor/a: María Legarda Tamara. Título: Nuevos criterios diagnósticos de la enfermedad celiaca: valoración de los marcadores genéticos e inmunológicos. Director/a: Dr. Juan Carlos Vitoria Cormenzana, Dr. José Ramón Bilbao Catalá. UPV/EHU

Autor/a: Leticia Plaza Izurieta. Título: Functional implication of gwas candidate genes in celiac disease pathogenesis / Gwas gene hautagaien inplikazio funtzionala eritasun zeliakoaren patogenesian. Director/a: Dr. José Ramón Bilbao Catalá, Dr. Juan Carlos Vitoria Cormenzana. UPV/EHU

Autor/a: Patxi Xabier Txakartegi Etxebarria. Título: Umearen pisu sobera: esku-hartzea lehen mailako arretako pediatrian. Director/a: Dr. Juan Carlos Vitoria Cormenzana, Dr. Juan José Aurrekoetxea Agirre. UPV/EHU

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