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Investigación en genética y control de diabetes y enfermedades endocrinas

Líneas de investigación

Inmunogenética de diabetes tipo 1y otros trastornos autoinmunes asociados.
Diagnóstico precoz y marcadores de diabetes tipo 1
Terapia celular en diabetes.
Alteraciones moleculares en el desarrollo y en la función del páncreas endocrino.
Trastornos genéticos en las enfermedades endocrinas raras.
Alteraciones en el metabolismo fosfocálcico.
Metabolismo del espermatozoide.
Ovario y Actividad Hormonal.
Glándulas Sexuales y actividad metabólica (futura línea de investigación).
Metabolismo fosfo-cálcico (futura línea de investigación).
Estudio genético de muestras de niños con enfermedad de Hirschsprung y de sus familiares. Búsqueda de mutaciones y polimorfismos asociados a la enfermedad para intentar establecer un modelo genético.
Análisis de la secuencia del protooncogén RET en pacientes con enfermedades afectadas en este gen, como la enfermedad de Hirschsprung, el carcinoma medular de tiroides esporádico y la neoplasia endocrina múltiple tipo 2 (MEN2).
Nuevos mecanismos implicados en la progresión de la enfermedad hepática de origen metabólico: de hepatoesteatosis a hepatocarcinoma

Foto grupo

Actividades del grupo

El Grupo de Investigación en Genética de Diabetes y Enfermedades Endocrinas es un grupo clinico experimental, con una amplia actividad traslacional al paciente. A nivel nacional está integrado en el Ciber de Diabetes y enfermedades metabólicas asociadas (CIBERDEM) y el Ciber de Enfermedades raras (CIBERER) del ISCIII. A nivel internacional, el Grupo participa en diferentes redes de investigación, como el European Type 1 Diabetes Genetic Network (ET1DGN), el Hvidore Study Group for Childhood Diabetes, etc.

Las actividades científicas del Grupo están relacionadas con el estudio de los mecanismos genéticos implicados en el desarrollo de las enfermedades endocrinas y metabólicas (diabetes), así como en la prevención y en el desarrollo de nuevas estrategias terapéuticas (inmunomodulación y/o terapia celular) para mejorar el control de las mismas. En este sentido,  estudia los determinantes genéticos de susceptibilidad de la diabetes autoinmune y los marcadores inmunológicos de diagnóstico precoz. Asimismo, en el ámbito de la prevención está participando en ensayos clínicos internacionales encaminados a la inducción de tolerancia inmune con autoantígenos frente a la diabetes tipo 1, como el estudio TRIGR (Trial to prevent IDDM in genetically at risk children), o estudio Diamyd (anti-GAD), etc. Con respecto a nuevas estrategias terapéuticas, su actividad se centra en el análisis de diferentes aspectos de terapia celular centrada en el trasplante de islote y en la diferenciación de las células beta pancreáticas. Por otra parte, el grupo trabaja en los trastornos moleculares de las alteraciones del metabolismo calcio fósforo y de otras enfermedades endocrinas raras.

Estudio del metabolismo peptídico en diversas fracciones del semen humano con especial atención al espermatozoide, en diversas situaciones fisiológicas y/o patológicas.

 

La enfermedad de Hirschsprung (HSCR) o aganglionosis intestinal es una enfermedad congénita caracterizada por la ausencia de neuronas en el tracto digestivo, lo que impide la motilidad intestinal causando obstrucción. Aparece en 1 de cada 5000 recién nacidos, siendo aproximadamente 4 veces más frecuente en varones que en mujeres. El tratamiento hasta el día de hoy consiste en la resección de la región aganglionar del intestino del enfermo y la unión de las zonas sanas para evitar la muerte del paciente. Este tratamiento aunque efectivo, afecta considerablemente a la calidad de vida del paciente desde su nacimiento. En las últimas décadas, el desarrollo de nuevas técnicas quirúrgicas ha disminuido la mortalidad y morbilidad de los niños enfermos, lo que ha permitido el comienzo del estudio genético de esta patología, tanto a nivel individual como familiar.

La enfermedad se considera una neurocristopatía, un defecto en la migración de las células de la cresta neural. El defecto tiene lugar entre las semanas de gestación 5 y 12, durante la formación del sistema nervioso entérico (SNE). Los niños afectados suelen presentar síntomas en los primeros dos meses de vida, aunque se pueden dar casos en los que la detección no sea hasta la niñez o incluso en adultos. Los enfermos de HSCR pueden desarrollar además otras afecciones como la enterocolitis y/o potencial perforación intestinal si no se opera a tiempo.

El protooncogén RET (REarranged during Transfection, Figura 1) se expresa en los precursores neuronales entéricos durante la colonización del tracto intestinal en el desarrollo embrionario. Este gen es miembro de la superfamilia de las cadherinas y codifica un receptor tirosina quinasa. Estos receptores son moléculas de la superficie celular que trasducen señales implicadas en el crecimiento y diferenciación celular.

Mutaciones y polimorfismos en la secuencia de este gen pueden alterar tanto su expresión como su función, lo que podría ser la causa de la enfermedad. Además de en HSCR, este gen está también involucrado en otras enfermedades de tipo endocrino, como la neoplasia endocrina múltiple tipo 2 (MEN2) y el carcinoma medular de tiroides. La presencia de SNPs podría determinar el desarrollo de la enfermedad y sus diferentes combinaciones (haplotipos) podrían causar predisposición genética a padecer HSCR. Esto hace que el estudio genético en los enfermos sea imprescindible para poder establecer un patrón hereditario y describir los cambios genéticos de RET.

Actualmente, las estrategias terapéuticas para las neurocristopatías entéricas se reducen a la cirugía y provisión de nutrición artificial. Los datos evidencian la necesidad de desarrollar nuevas terapias para este tipo de patología. En la última década los enormes avances en Biología Molecular y Genética han aumentado significativamente nuestro conocimiento acerca del desarrollo y funcionamiento del SNE. Estas técnicas, combinadas con los progresos en los campos de la farmacología y la biología con células madre, han permitido la identificación de nuevas herramientas y dianas terapéuticas. Con estas estrategias se podrían reemplazar componentes defectuosos del SNE, ayudando a la recuperación del tejido dañado y mejorando la calidad de vida del enfermo.

Coordinador/a del grupo



Miembros del grupo

  Anibal Aguayo Calcena
 
 
  María Victoria Aparicio Prieto
 
 
  Patricia Aspichueta Celaa
 
  Igor Aurrekoetxea Galindo
 
  Xabier Buque García
 
  Alicia Cortazar Galarza
 
 
  Concepción Fernández Ramos
 
 
  Arturo Galbarriatu Gutierrez
 
 
  Maria Sonia Gaztambide Saenz
 
 
  Pedro González Fernández
 
 
  Itziar González Moro
 
  Gema Grau Bolado
 
 
  Paloma Jimenez Huertas
 
 
  Miren Edurne Larrinaga Ugalde
 
 
  Rosa María Martínez Salazar
 
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  Idoia Martínez de La Piscina Martín
 
 
  José Luis Maza Cano
 
  Daniela Mestre Congregado
 
  María Dolores Moure Rodríguez
 
 
  Nancy Elizabeth Portillo Najera
 
 
  Aitor Quintana de la Basarrate
 
 
  Itxaso Rica Etxebarria
 
 
  María Concepción Rivero Martínez
 
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  Amaya Rodríguez Estévez
 
 
  Jesús Pablo Sáez de la Fuente Chivite
 
  Izortze Santín Gómez
 
 
  Javier Santamaría Sandi
 
 
  Ana Sanz Pereda
 
 
  Laura Saso Jiménez
 
 
  Ane Urbina Juez
 
 
  Inés Urrutia Echevarria
 
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  Luis Vega González
 
  Amaya Vela Desojo
 
 
  Olaia Velasco Vielba
 
 
  Ana Villalba Cabrera
 
 
  Amelia Oleaga Alday
 
 
  Jon Mentxaka Salgado
 
 
  Miriam Sánchez Morán
 
 
  Vanessa Arosa Carril
 
 
  Alicia Martín Nieto
 
 
  Elsa Fernández Rubio
 
 
  Virginia Agudo Endemaño
 
 
  June Corcuera Tejada
 
 
  María Begoña Quintas Gómez
 
 
  Amaya Hidalgo Murillo
 
 
  Estrella Diego Perojo
 
 
  Ignacio Valverde Benítez
 
 
  Candela Baquero Martínez
 
 
  Ainhoa Camille Aranga Decori
 
 

Publicaciones del grupo

Ochoa E, Lee S, Lan Leung B, Dias RP, Ong KK, Radley JA, et al. ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance. Genet Med. 2022; 24(2): 463-474. DOI:10.1016/j.gim.2021.10.011.

Ruiz de Gauna M, Biancaniello F, Gonzalez Romero F, Rodrigues PM, Lapitz A, Gomez Santos B, et al. Cholangiocarcinoma progression depends on the uptake and metabolization of extracellular lipids. Hepatology. 2022. DOI:10.1002/hep.32344.

Jebari Benslaiman S, Uribe KB, Benito Vicente A, Galicia Garcia U, Larrea Sebal A, Santin I, et al. Boosting Cholesterol Efflux from Foam Cells by Sequential Administration of rHDL to Deliver MicroRNA and to Remove Cholesterol in a Triple-Cell 2D Atherosclerosis Model. Small. 2022; 18(13). DOI:10.1002/smll.202105915.

Sot J, Garcia Arribas AB, Abad B, Arranz S, Portune K, Andrade F, et al. Erythrocyte Membrane Nanomechanical Rigidity Is Decreased in Obese Patients. Int J Mol Sci. 2022; 23(3). DOI:10.3390/ijms23031920.

Vazquez Mosquera ME, Gonzalez Vioque E, Barbosa Gouveia S, Bellido Guerrero D, Tejera Perez C, Martinez Olmos MA, et al. Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis. Orphanet J Rare Dis. 2022; 17(1). DOI:10.1186/s13023-022-02263-3.

Saenz de Urturi D, Buque X, Porteiro B, Folgueira C, Mora A, Delgado TC, et al. Methionine adenosyltransferase 1a antisense oligonucleotides activate the liver-brown adipose tissue axis preventing obesity and associated hepatosteatosis. Nat Commun. 2022; 13(1): 1096-1096. DOI:10.1038/s41467-022-28749-z.

Olaizola P, Lee Law PY, Fernandez Barrena MG, Alvarez L, Cadamuro M, Azkargorta M, et al. Targeting NAE1-mediated protein hyper-NEDDylation halts cholangiocarcinogenesis and impacts on tumor-stroma crosstalk in experimental models. J Hepatol. 2022; 77(1): 177-190. DOI:10.1016/j.jhep.2022.02.007.

Gomez Munoz L, Perna Barrull D, Caroz Armayones JM, Murillo M, Rodriguez Fernandez S, Valls A, et al. Candidate Biomarkers for the Prediction and Monitoring of Partial Remission in Pediatric Type 1 Diabetes. Front Immunol. 2022; 13. DOI:10.3389/fimmu.2022.825426.

Ochoa E, Lee S, Lan Leung B, Dias R, Ong KK, Radley JA, et al. New diagnostic tool for multi-locus imprinting disturbances. Eur J Hum Genet. 2022; 30(SUPPL 1): 549-550

Moral Martos A, Guerrero Fernandez J, Gomez Balaguer M, Rica Echevarria I, Campos Martorell A, Chueca Guindulain MJ, et al. Clinical practice guidelines for transsexual, transgender and gender diverse minors. An Pediatr (Engl Ed). 2022; 96(4): 3491-34911. DOI:10.1016/j.anpede.2022.02.002.

Castano L, Madariaga L, Grau G, Garcia Castano A. 25(OH)Vitamin D Deficiency and Calcifediol Treatment in Pediatrics. Nutrients. 2022; 14(9). DOI:10.3390/nu14091854.

Exposito Rodriguez A, Corta Gomez I, Dominguez Ayala M, Garcia Carrillo M, Gonzalez Garcia AI, Gutierrez Rodriguez MT, et al. Sentinel lymph node biopsy in papillary thyroid cancer: Accuracy and application in clinical practice. Cir Esp (Engl Ed). 2022; 100(7): 416-421. DOI:10.1016/j.cireng.2022.04.022.

Olaizola P, Rodrigues PM, Caballero Camino FJ, Izquierdo Sanchez L, Aspichueta P, Bujanda L, et al. Genetics, pathobiology and therapeutic opportunities of polycystic liver disease. Nat Rev Gastroenterol Hepatol. 2022; 19(9): 585-604. DOI:10.1038/s41575-022-00617-7.

Nowak C, Lind M, Sumnik Z, Pelikanova T, Chavez LN, Lundberg E, et al. Intralymphatic GAD-alum (Diamyd) improves glycaemic control in Type 1 diabetes with HLA DR3-DQ2. J Clin Endocrinol Metab. 2022; 107(9): 2644-2651. DOI:10.1210/clinem/dgac343.

Gonzalez Fenandez M, Antonio IED, Martin IMP, Martinez JS, Almaraz MCA. 5-Alpha-reductase type 2 deficiency. A new case in the Spanish population. Endocrinol Diabetes Nutr (Engl Ed). 2022; 69(5): 384-386. DOI:10.1016/j.endien.2021.04.002.

Cruz R, Almeida SD, Heredia ML, Quintela I, Ceballos FC, Pita G, et al. Novel genes and sex differences in COVID-19 severity. Hum Mol Genet. 2022. DOI:10.1093/hmg/ddac132.

Labiano I, Agirre Lizaso A, Olaizola P, Echebarria A, Huici Izagirre M, Olaizola I, et al. TREM-2 plays a protective role in cholestasis by acting as a negative regulator of inflammation. J Hepatol. 2022; 77(4): 991-1004. DOI:10.1016/j.jhep.2022.05.044.

Garcia Perez J, Gonzalez Perez M, Castillo de la Osa M, Borobia AM, Castano L, Bertran MJ, et al. Immunogenic dynamics and SARS-CoV-2 variant neutralisation of the heterologous ChAdOx1-S/BNT162b2 vaccination: Secondary analysis of the randomised CombiVacS study. Eclinicalmedicine. 2022; 50: 101529-101529. DOI:10.1016/j.eclinm.2022.101529.

Ruiz de Gauna M, Biancaniello F, Gonzalez Romero F, Miguel Rodrigues P, Lapitz A, Gomez Santos B, et al. The uptake of extracellular lipids promotes cholangiocarcinoma progression. J Hepatol. 2022; 77: 648-648

Del Barrio Azaceta M, Iruzubieta P, Aller de la Fuente R, Maria Banales J, Santos Laso A, Calleja Panero JL, et al. The metabolic dysfunction-associated fatty liver disease definition, regardless of its clinical subclassification, identifies patients at high risk for liver disease progression. J Hepatol. 2022; 77: 158-159

Gomez Santos B, Fernamdez Puertas I, Nieva Zuluaga A, Ruiz de Gauna M, Apodaka Biguri M, Gonzalez Romero F, et al. The DNA damage response is involved in the metabolic dysregulation of MAFLD patients via inefficient fatty acid oxidation. J Hepatol. 2022; 77: 665-665

Olaizola P, Lee Law P, Fernandez Barrena MG, Alvarez L, Cadamuro M, Azkargorta M, et al. Targeting NAE1-mediated protein hyper-NEDDylation halts cholangiocarcinogenesis and impacts on tumour-stroma crosstalk in experimental models. J Hepatol. 2022; 77: 46-46

Apodaka Biguri M, Gonzalez Romero F, Mestre Congregado D, Aurrekoetxea I, Gomez Santos B, Delgado I, et al. miR34a-5p is a target of E2F2 transcription factor in MAFLD-related HCC. J Hepatol. 2022; 77: 651-652

Buque X, Saenz de Urturi D, Porteiro B, Folgueira C, Mora A, Cardoso Delgado T, et al. Methionine adenosyltransferase 1a antisense oligonucleotides induce the fibroblast growth factor 21-driven recovery from obesity and associated hepatoesteatosis. J Hepatol. 2022; 77: 689-690

Del Barrio Azaceta M, Iruzubieta P, Aller De La Fuente R, Maria Banales J, Santos Laso A, Calleja Panero JL, et al. Metabolic dysfunction-associated fatty liver disease increases cardiovascular risk regardless of classical risk factors. J Hepatol. 2022; 77: 157-157

Vallejo Casas JA, Sambo M, Lopez C, Duran Poveda M, Rodriguez Villanueva Garcia J, Santos RJ, et al. Initial clinical and treatment patterns of advanced differentiated thyroid cancer: ERUDIT study. Eur Thyroid J. 2022; 11(5). DOI:10.1530/ETJ-21-0111.

Diez JJ, Anda E, Alcazar V, Isidro ML, Familiar C, Paja M, et al. Differentiated thyroid carcinoma in the elderly: influence of age on disease-free and overall survival. Endocrine. 2022; 77(1): 121-133. DOI:10.1007/s12020-022-03059-y.

Jauregibeitia I, Portune K, Gaztambide S, Rica I, Tueros I, Velasco O et al. Molecular Differences Based on Erythrocyte Fatty Acid Profile to Personalize Dietary Strategies between Adults and Children with Obesity. Metabolites. 2021; 11(1). DOI:10.3390/metabo11010043.

Nucci AM, Virtanen SM, Cuthbertson D, Ludvigsson J, Einberg U, Huot C et al. Growth and development of islet autoimmunity and type 1 diabetes in children genetically at risk. Diabetologia. 2021; 64(4): 826-835. DOI:10.1007/s00125-020-05358-3.

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.

Infante A, Gener B, Vazquez M, Olivares N, Arrieta A, Grau G et al. Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro-osteogenic paracrine response: TERCELOI clinical trial. Clin Transl Med. 2021; 11(1): 265-265. DOI:10.1002/ctm2.265.

Garcia Castano A, Madariaga L, Gomez Conde S, Cordo CLR, Lopez Iglesias M, Garcia Fernandez Y et al. Five patients with disorders of calcium metabolism presented with GCM2 gene variants. Sci Rep. 2021; 11(1): 2968-2968. DOI:10.1038/s41598-021-82661-y.

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.

Simon J, Goikoetxea Usandizaga N, Serrano Macia M, Fernandez Ramos D, Saenz de Urturi D, Gruskos JJ et al. Magnesium accumulation upon cyclin M4 silencing activates microsomal triglyceride transfer protein improving NASH. J Hepatol. 2021; 75(1): 34-45. DOI:10.1016/j.jhep.2021.01.043.

Gonzalez Moro I, Santin I. Long non-coding RNA-regulated pathways in pancreatic beta cells: Their role in diabetes. Int Rev Cell Mol Biol. 2021; 359: 325-355. DOI:10.1016/bs.ircmb.2021.02.007.

Gonzalez Romero F, Mestre D, Aurrekoetxea I, O'Rourke CJ, Andersen JB, Woodhoo A et al. E2F1 and E2F2-mediated repression of CPT2 establishes a lipid-rich tumor-promoting environment. Cancer Res. 2021; 81(11): 2874-2887. DOI:10.1158/0008-5472.CAN-20-2052.

Pinart M, Jeran S, Boeing H, Stelmach Mardas M, Standl M, Schulz H et al. Dietary Macronutrient Composition in Relation to Circulating HDL and Non-HDL Cholesterol: A Federated Individual-Level Analysis of Cross-Sectional Data from Adolescents and Adults in 8 European Studies. J Nutr. 2021; 151(8): 2317-2329. DOI:10.1093/jn/nxab077.

Zenarruzabeitia O, Astarloa Pando G, Terren I, Orrantia A, Perez Garay R, Seijas Betolaza I et al. T Cell Activation, Highly Armed Cytotoxic Cells and a Shift in Monocytes CD300 Receptors Expression Is Characteristic of Patients With Severe COVID-19. Front Immunol. 2021; 12. DOI:10.3389/fimmu.2021.655934.

Gomez Conde S, Garcia Castano A, Aguirre M, Herrero M, Gondra L, Garcia Perez N et al. Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis. Pediatr Nephrol. 2021; 36(10): 3133-3142. DOI:10.1007/s00467-021-05066-z.

Jauregibeitia I, Portune K, Rica I, Tueros I, Velasco O, Grau G et al. Potential of Erythrocyte Membrane Lipid Profile as a Novel Inflammatory Biomarker to Distinguish Metabolically Healthy Obesity in Children. J Pers Med. 2021; 11(5). DOI:10.3390/jpm11050337.

Ampuero J, Aller R, Gallego Duran R, Crespo J, Abad J, Gonzalez Rodriguez A et al. Definite and indeterminate nonalcoholic steatohepatitis share similar clinical features and prognosis: A longitudinal study of 1893 biopsy-proven nonalcoholic fatty liver disease subjects. Liver Int. 2021; 41(9): 2076-2086. DOI:10.1111/liv.14898.

Cabrera D, Rao I, Raasch F, Solis N, Pizarro M, Freire M et al. Mineralocorticoid receptor modulation by dietary sodium influences NAFLD development in mice. Ann Hepatol. 2021; 24: 100357-100357. DOI:10.1016/j.aohep.2021.100357.

Villalabeitia Ateca I, Perfecto Valero A, Serrano Hermosilla C, Marcaida Salazar A, Perez Fernandez S, Sarriugarte Lasarte A. Prognostic value of the nodal ratio in gastric cancer: Unicentric analysis pf 199 patients. Cir Esp (Engl Ed). 2021. DOI:10.1016/j.ciresp.2021.03.018.

Gonzalez Moro MB, Gonzalez Moro I, de la Pena M, Estavillo JM, Aparicio Tejo PM, Marino D et al. A Multi-Species Analysis Defines Anaplerotic Enzymes and Amides as Metabolic Markers for Ammonium Nutrition. Front Plant Sci. 2021; 11. DOI:10.3389/fpls.2020.632285.

Ludvigsson J, Sumnik Z, Pelikanova T, Nattero Chavez L, Lundberg E, Rica I et al. Intralymphatic Glutamic Acid Decarboxylase With Vitamin D Supplementation in Recent-Onset Type 1 Diabetes: A Double-Blind, Randomized, Placebo-Controlled Phase IIb Trial. Diabetes Care. 2021. DOI:10.2337/dc21-0318.

Morales C, Bellido V, Tejera C, Goni F, Palomares R, Sevillano C et al. DAPA-RWE: a retrospective multicenter study comparing dapagliflozin and sitagliptin in patients with Type 2 diabetes treated under routine clinical practice in Spain. J Comp Eff Res. 2021; 10(10): 815-821. DOI:10.2217/cer-2020-0264.

Santamaria Sandi J, Navarro Gonzalez E, Herrero Ruiz A, Bandres Nivela O, Ballesteros Pomar M, Escalada San Martin FJ et al. Portfolio of services in Endocrinology and Nutrition. 2020 update. Endocrinol Diabetes Nutricion. 2021. DOI:10.1016/j.endinu.2021.01.006.

Pacaud D, Nucci AM, Cuthbertson D, Becker DJ, Virtanen SM, Ludvigsson J et al. Association between family history, early growth and the risk of beta cell autoimmunity in children at risk for type 1 diabetes. Diabetologia. 2021; 64(1): 119-128. DOI:10.1007/s00125-020-05287-1.

Gonzalez Fenandez M, Antonio IED, Martin IMP, Martinez JS, Almaraz MCA. 5-Alpha-reductase type 2 deficiency. A new case in the Spanish population. Endocrinol Diabetes Nutricion. 2021. DOI:10.1016/j.endinu.2021.04.003.

Serrano Macia M, Simon J, Gonzalez Rellan MJ, Azkargorta M, Goikoetxea Usandizaga N, Lopitz Otsoa F et al. Neddylation inhibition ameliorates steatosis in NAFLD by boosting hepatic fatty acid oxidation via the DEPTOR-mTOR axis. Mol Metab. 2021; 53: 101275-101275. DOI:10.1016/j.molmet.2021.101275.

Arif E, Wang C, Swiderska Syn MK, Solanki AK, Rahman B, Manka PP et al. Targeting myosin 1c inhibits murine hepatic fibrogenesis. Am J Physiol-Gastroint Liver Physiol. 2021; 320(6): 1044-1053. DOI:10.1152/ajpgi.00105.2021.

Borobia AM, Carcas AJ, Perez Olmeda M, Castano L, Bertran MJ, Garcia Perez J et al. Immunogenicity and reactogenicity of BNT162b2 booster in ChAdOx1-S-primed participants (CombiVacS): a multicentre, open-label, randomised, controlled, phase 2 trial. Lancet. 2021; 398(10295): 121-130. DOI:10.1016/S0140-6736(21)01420-3.

Fernandez U, Fernandez Fondevila M, Gonzalez Rellan MJ, Da Silva Lima N, Buque X, Gonzalez A et al. Hepatic LPI/GPR55 systemregulates the development of non-alcoholic steatosis and steatohepatitis. J Hepatol. 2021; 75: 389-391

Simon J, Goikoetxea N, Serrano Macia M, Fernandez Ramos D, Saenz de Urturi D, Gruskos J et al. Hepatic magnesium accumulation upon cyclin M4 (CNNM4) silencing improves NASH. J Hepatol. 2021; 75: 612-612

Novoa E, da Silva Lima N, Fernandez Fondevila M, Buque X, Jesus Gonzalez M, Fernandez U et al. inhibition of atg3 ameliorates liver steatosis by increasing sirt1 in an autophagic-independent action. J Hepatol. 2021; 75: 591-591

Lee Law PY, Olaizola P, Caballero Camino FJ, Izquierdo Sanchez L, Rodrigues PM, Perugorria MJ et al. Inhibition of NAE-dependent protein hyper-NEDDylation in cystic cholangiocytes halts cystogenesis in experimental models of polycystic liver disease. United European Gastroenterol J. 2021; 9(7): 848-859. DOI:10.1002/ueg2.12126.

Serrano Macia M, Simon Espinosa J, Gonzalez Rellan MJ, Goikoetxea N, Azkargorta M, Lopitz Otsoa F et al. Neddylation inhibition reduces liver steatosis in MAFLD mice models by promoting hepatic fatty acid oxidation via DEPTOR-mTOR axis. J Hepatol. 2021; 75: 624-624

Gonzalez Romero F, Mestre Congregado D, Aurrekoetxea I, Rourke CO, Andersen J, Woodhoo A et al. Repression of fatty acid oxidation in steatohepatitic-HCC is mediated by E2F1 and E2F2 transcription factors. J Hepatol. 2021; 75: 497-498

Martinez de LaPiscina I, Portillo Najera N, Rica I, Gaztambide S, Webb S, Santos A et al. Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas. Eur J Endocrinol. 2021; 185(4): 485-496. DOI:10.1530/EJE-21-0075.

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

Garcia Escobar E, Valdes S, Soriguer F, Vendrell J, Urrutia Etxebarria IM, Maldonado Araque C et al. Fatty liver index as a predictor for type 2 diabetes in subjects with normoglycemia in a nationwide cohort study. Sci Rep. 2021; 11(1). DOI:10.1038/s41598-021-95546-x.

da Silva Lima N, Fondevila MF, Novoa E, Buque X, Mercado Gomez M, Gallet S et al. Inhibition of ATG3 ameliorates liver steatosis by increasing mitochondrial function. J Hepatol. 2021; 76(1): 11-24. DOI:10.1016/j.jhep.2021.09.008.

Zurita ALP, Appelman Dijkstra N, Biermasz N, Bryce J, Burman P, Castano L et al. The Pituitary Tumour Module: Developing a Condition Specific Module within the European Registries for Rare Endocrine Conditions (EuRRECa). Horm Res Paediatr. 2021; 94(SUPPL 1): 113-113

Martinez de LaPiscina I, Portillo N, Rica I, Gaztambide S, Castano L. Sporadic pituitary adenomas in young patients: clinical and molecular description. Horm Res Paediatr. 2021; 94(SUPPL 1): 108-109

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Kouri C, Sommer G, Martinez de LaPiscina I, Tack L, Cools M, Fluck CE, et al. Phenotypes in a large international cohort of individuals with SF-1/NR5A1 variants. Horm Res Paediatr. 2022; 95(SUPPL 2): 46-46

Marcelo I, Urrutia I, Calvo B, Martinez R, Saso L, Castano L, et al. Prevalence of autoimmunity in relatives of patients with type 1 diabetes: Time to the clinical onset of diabetes and associated risk factors. Horm Res Paediatr. 2022; 95(SUPPL 2): 177-178

Hirschler V, Gonzalez CD, Itxaso R, Ines U, Zalazar Rosa M, Anibal A, et al. Association between Hepcidin and Type 2 Diabetes markers In Indigenous Argentinean Children living at High Altitude. Clin Chim Acta. 2022; 537: 194-198. DOI:10.1016/j.cca.2022.08.021.

Nunez Munoz R, Ortega YC, Sarmiento M, Jorge RV, Fuentes AP, Subirats JG, et al. Stimulated thyroglobulin ( TG) prior to [131I] therapy (RAIT) in patients with differentiated thyroid cancer (DTC) as a predictive factor of recurrence. Eur J Nucl Med Mol Imaging. 2022; 49(SUPPL 1): 586-586

Martin Fernandez M, Arroyo V, Carnicero C, Siguenza R, Busta R, Mora N, et al. Role of Oxidative Stress and Lipid Peroxidation in the Pathophysiology of NAFLD. Antioxidants. 2022; 11(11). DOI:10.3390/antiox11112217.

Guerrero Fernandez J, Gonzalez Peramato P, Rodriguez Estevez A, Alcazar Villar MJ, Audi Parera L, Azcona San Julian MC, et al. Consensus guide on prophylactic gonadectomy in different sex development. Endocrinol Diabetes Nutr (Engl Ed). 2022. DOI:10.1016/j.endien.2022.10.002.

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Aguayo A, Vela A, Aniel-Quiroga A, Blarduni E, Fernandez C, Grau G, et al. Absence of diabetes mellitus type 2 in obese children and adolescents in the north of Spain. J Pediatr Endocrinol Metab. 2013;26:25-9. FI: 0,747(Q4)

Arisqueta L, Nuñez-Garcia M, Ogando J, Garcia-Arcos I, Ochoa B, Aspichueta P, et al. Involvement of lipid droplets in hepatic responses to lipopolysaccharide treatment in mice.Biochim.Biophys. Acta Mol Cell Biol Lipids. 2013;1831:1357-67. FI: 4,134(Q1)

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Dominguez Garcia A, Castano Gonzalez LA, Perez-Nanclares G, Quinteiro Gonzalez S, Caballero Fernandez E. Clinical features of two cases of pseudohypoparathyroidism (la and lb) and molecular analysis of GNAS. An Pediatr. 2013;79:319-24. FI: 0,867(Q3)

Elhayek D, Perez de Nanclares G, Chouchane S, Hamami S, Mlika A, Troudi M, et al. Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes. BMC Med Genet. 2013;14:119. FI: 2,536(Q3)

Esmatjes E, Jansa M, Roca D, Perez N, Martinez S, Ruiz de Adana M, et al. The efficiency of telemedicine to optimise metabolic control in patients with type 1 diabetes mellitus. Diabetologia. 2013;56: 451. FI: 6,487(Q1)

Esteva de Antonio I, Gómez-Gil E. Coordination of healthcare for transsexual persons: a multidisciplinary approach. Curr Opin Endocrinol Diabetes Obes. 2013;20:585-91. FI: 3,985(Q2)

Fernández-Rebollo E, Lecumberri B, Gaztambide S, Martinez-Indart L, Perez de Nanclares G, Castaño L. Endocrine Profile and Phenotype-(Epi)Genotype Correlation in Spanish Patients with Pseudohypoparathyroidism. J Clin ndocrinol Metab. 2013;98:996-1006. FI: 6,430(Q1)

Garcia Castano A, Pérez de Nanclares G, Madariaga L, Aguirre M, Madrid A, Nadal I, et al: RenalTube Grp. Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm. PLoS One.2013;8:e74673. FI: 3,730(Q1)

García-Rodríguez JL, Barbier-Torres L, Fernández-Álvarez S, Juan VG, Monte MJ, Halilbasic E, et al. SIRT1 controls liver regeneration by regulating BA metabolism through FXR and mTOR signaling. Hepatology 2013 : -0. FI: 12,003(Q1).

Gaztambide S, Vazquez F, Castano L. Diagnosis and treatment of multiple endocrine neoplasia type 1 (MEN1). Minerva Endocrinol. 2013;38:17-28. FI: 1,396(Q4)

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Hirschler V, Maccallini G, Sanchez MS, Castano L, Molinari C, San Antonio de los Cobres Study Gr. Improvement in High-Density Lipoprotein Cholesterol Levels in Argentine Indian School Children after Vitamin D Supplementation. Horm Res Paediatr. 2013;80:335-42. FI: 1,553(Q2).

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Ortega E, Franch J, Castell C, Goday A, Ribas-Barba L, Soriguer F, et al. Mediterranean Diet Adherence in Individuals with Prediabetes and Unknown Diabetes: The Di@bet.es Study. Ann Nutr Metab. 2013;62:339-46. FI: 1,661(Q3)

Rojo-Martinez G, Valdes S, Colomo N, Lucena MI, Gaztambide S, Gomis R, et al. Use of Drugs Related to the Treatment of Diabetes Mellitus and Other Cardiovascular Risk Factors in the Spanish Population. The Di@bet.es Study. Rev Esp Cardiol. 2013;66:854-63. FI: 3,204(Q2)

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Rueda Y, Garcia-Arcos I, Aspichueta P, Ochoa B, Palacios L, Fresnedo O. Infection of primary hepatocytes with adenoviral vectors alters biliary lipid metabolism. J Physiol Sci. 2013;63:225-9. FI: 1,089(Q4)

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Vazquez-Chantada M, Gonzalez-Lahera A, Martinez-Arranz I, Garcia-Monzon C, Regueiro MM, Garcia-Rodriguez JL, et al. Solute Carrier Family 2 Member 1 Is Involved in the Development of Nonalcoholic Fatty Liver Disease. Hepatology. 2013;57:505-14. FI: 12,003(Q1)

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: Victoria Díez Bayona. Título: "Análisis del perfil inflamatorio, clínico y nutricional de la enfermedad celiaca al diagnóstico y tras la implantación de la dieta sin gluten ". Director/a: Dr. Luis Antonio Castaño González.

Autor/a: Leire Gondra Sangroniz. Título: "Evolución clínica de los pacientes con síndrome de Bartter tipo III". Directores/as: Dr. Luis Antonio Castaño González, Dra. Leire Madariaga Domínguez.

Autor/a: Sonia Pérez San Martín. Título: "Estatus nutricional de la vitamina D y metabolismo fosfocálcico en la sepsis. Relación del metabolismo de la vitamina D con la inflamación en la sepsis". Director/a: Dra. Sonia Gaztambide Saenz.

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: Daniel Eceizabarrena Perez . Título: "A geometric and physical study of Riemann’s non-diferentiable function. ". Director/a: Dr. Luis Vega González.

Autor/a: Mikel Aguirre Alonso. Título: "The Schrödinger Equaton and Uncertainty Principles. ". Director/a: Dr. Luis Vega González.

Autor/a: Sandeep Kumar. Título: "Vortex Filament Equation for some Regular Polygonal Curves. ". Directores/as: Dr. Luis Vega González, Dr. Francisco de la Hoz Méndez.

Autor/a: Aitor de la Quintana Basarrate. Título: "La neuromonitorización continua del nervio recurrente durante la tiroidectomía". Director/a: Dra. Sonia Gaztambide Sáenz.

Autor/a: María Victoria Aparicio Prieto. Título: Fragmentación del ADN espermático y su relación con el metabolismo peptídico. Directores: Dr. Luis Casis Saenz, Dra. Nerea Subirán Ciudad.

Autor/a: Teresa Velayos Gainza. Título: ""Respuesta clínica en pacientes con cáncer colorrectal metastásico y farmacodinamia del irinotecán en los mismos"". Directores/as: Dr. Luis Antonio Castaño González, Dra. Izortze Santín Gómez.

Autor/a: María Pilar Vela Orús. Título: Isquemia crítica en pacientes diabéticos ¿Es válida la nueva clasificación WIfI?. Director/a: Dra. Sonia Gaztambide Sáenz. UPV/EHU

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