Interacciones genético-ambientales en los trastornos del neurodesarrollo
Líneas de investigación
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Interacciones genético-ambientales en los trastornos del neurodesarrollo
- Modelos celulares in vitro y ex vivo de rasopatías, tales como células madre pluripotenciales, células madre neurales, cultivos primarios neuronales y cultivos organotípicos de rodajas de hipocampo, para estudiar el neurodesarrollo.
- Modelos animales de ratón con mutaciones en las proteínas Ras asociadas a los trastornos de neurodesarrollo (rasopatías) para estudiar la conducta animal relacionada con dichos trastornos, como el desarrollo motor, el comportamiento social y las habilidades cognitivas como la memoria y el aprendizaje.
Proyectos de investigación
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2024-2027 Ministerio de Ciencia e Innovación, Generación de conocimiento, PID2022-136932OB-I00, “Interacciones genético-ambientales como factor de riesgo en la disfunción sináptica asociada a las rasopatías”. IP: Victor Briz (ISCIII). Financiación: 162.500€.
2023-2028 Ministerio de Ciencia e Innovación, Ayuda Ramón y Cajal, RYC2021-031395-I, “Gene-environment interactions as risk factor for neurodevelopmental and cognitive disorders”. IP: Victor Briz (ISCIII). Financiación: 236.350€.
Publicaciones destacadas
. Concurrent Assessment of Phthalates/HEXAMOLL (R) DINCH Exposure and Wechsler Intelligence Scale for Children Performance in Three European Cohorts of the HBM4EU Aligned Studies
Rosolen V, Giordani E, Mariuz M, Parpinel M, Ronfani L, Vecchi Brumatti L, Bin M, Calamandrei G, Mustieles V, Gilles L, Govarts E, Baken K, Rodriguez Martin L, Schoeters G, Sepai O, Sovcikova E, Fabelova L, Šidlovská M, Kolena B, Kold Jensen T, Frederiksen H, Kolossa-Gehring M, Lange R, Apel P, Castano A, Esteban López M, Jacobs G, Voorspoels S, Jurdáková H, Górová R, Barbone F. Concurrent Assessment of Phthalates/HEXAMOLL (R) DINCH Exposure and Wechsler Intelligence Scale for Children Performance in Three European Cohorts of the HBM4EU Aligned Studies. Toxics 10: 538. 2022.
DOIGlyphosate and AMPA in Human Urine of HBM4EU-Aligned Studies: Part B Adults
Buekers J, Remy S, Bessems J, Govarts E, Rambaud L, Riou M, Halldorsson TI, Ólafsdóttir K, Probst-Hensch N, Ammann P, Weber T, Kolossa-Gehring M, Esteban-López M, Castaño A, Raun Andersen H, Schoeters G. Glyphosate and AMPA in Human Urine of HBM4EU-Aligned Studies: Part B Adults. Toxics 10: 552. 2022.
DOIGlyphosate and AMPA in Human Urine of HBM4EU-Aligned Studies: Part A Children
Buekers J, Remy S, Bessems J, Govarts E, Rambaud L, Riou M, Snoj Tratnik J, Stajnko A, Katsonouri A, Makris KC, De Decker A, Morrens B, Vogel N, Kolossa-Gehring M, Esteban-López M, Castaño A, Raun Andersen H, Schoeters G. Glyphosate and AMPA in Human Urine of HBM4EU-Aligned Studies: Part A Children. Toxics. 10: 470. 2022.
DOIA Tiered Approach for Assessing Individual and Combined Risk of Pyrethroids Using Human Biomonitoring Data
Tarazona JV, Cattaneo I, Niemann L, Pedraza-Diaz S, González-Caballero MC, de Alba-Gonzalez M, Cañas A, Dominguez-Morueco N, Esteban-López M, Castaño A, Borges T, Katsonouri A, Makris KC, Ottenbros I, Mol H, De Decker A, Morrens B, Berman T, Barnett-Itzhaki Z, Probst-Hensch N, Fuhrimann S, Tratnik JS, Horvat M, Rambaud L, Riou M, Schoeters G, Govarts E, Kolossa-Gehring M, Weber T, Apel P, Namorado S, Santonen T. A Tiered Approach for Assessing Individual and Combined Risk of Pyrethroids Using Human Biomonitoring Data. Toxics. 10, 451. 2022.
DOIFrom science to policy: How European HBM indicators help to answer policy questions related to phthalates and DINCH exposure
Gerofke A, David M, Schmidt P, Lobo Vicente J, Buekers J, Gilles L, Colles A, Bessems J, Bastiaensen M, Covaci A, Den Hond E, Koppen G, Laeremans M, Verheyen VJ, Černá M, Klánová J, Krsková A, Zvonař M, Knudsen LE, Koch HM, Rambaud L, Riou M, Vogel N, Gabriel C, Karakitsios S, Papaioannou N, Sarigiannis D, Kakucs R, Középesy S, Rudnai P, Szigeti T, Barbone F, Rosolen V, Guignard C, Gutleb AC, Sakhi AK, Haug LS, Janasik B, Ligocka D, Estokova M, Fabelova L, Kolena B, Palkovicova Murinova L, Petrovicova I, Richterova D, Horvat M, Mazej D, Snoj Tratnik J, Runkel AA, Castaño A, Esteban-López M, Pedraza-Díaz S, Åkesson A, Lignell S, Vlaanderen J, Zock JP, Schoeters G, Kolossa-Gehring M. From science to policy: How European HBM indicators help to answer policy questions related to phthalates and DINCH exposure. Int J Hyg Environ Health. 247: 114073. 2022.
DOICumulative risk assessment of five phthalates in European children and adolescents
Lange R, Vogel N, Schmidt P, Gerofke A, Luijten M, Bil W, Santonen T, Schoeters G, Gilles L, Sakhi AK, Haug LS, Jensen TK, Frederiksen H, Koch HM, Szigeti T, Szabados M, Snoj Tratnik J, Mazej D, Gabriel C, Sarigiannis D, Dzhedzheia V, Karakitsios S, Rambaud L, Riou M, Koppen G, Covaci A, Zvona M, Piler P, Klanova J, Fabelova L, Richterova D, Kosjek T, Runkel A, Pedraza-Díaz S, Verheyen V, Bastiaensen M, Esteban-López M, Castaño A, Kolossa-Gehring M. Cumulative risk assessment of five phthalates in European children and adolescents. Environ J Hyg Environ Health 246: 114052. 2022.
DOIPersonal care product use and lifestyle affect phthalate and DINCH metabolite levels in teenagers and young adults
Fišerová PS, Melymuk L, Komprdová K, Domínguez-Romero E, Scheringer M, Kohoutek J, Přibylová P, Andrýsková L, Piler P, Koch HM, Zvonař M, Esteban-López M, Castaño A, Klánová J. Personal care product use and lifestyle affect phthalate and DINCH metabolite levels in teenagers and young adults. Environ Res. 213:113675. 2022.
DOIImproving the Risk Assessment of Pesticides through the Integration of Human Biomonitoring and Food Monitoring Data: A Case Study for Chlorpyrifos
Tarazona JV, González-Caballero MC, de Alba-Gonzalez M, Pedraza-Diaz S, Cañas A, Dominguez-Morueco N, Esteban-López M, Cattaneo I, Katsonouri A, Makris KC, Halldorsson TI, Olafsdottir K, Zock JP, Dias J, De Decker A, Morrens B, Berman T, Barnett-Itzhaki Z, Lindh C, Gilles L, Govarts E, Schoeters G, Weber T, Kolossa-Gehring M, Santonen T, Castaño A. Improving the Risk Assessment of Pesticides through the Integration of Human Biomonitoring and Food Monitoring Data: A Case Study for Chlorpyrifos. Toxics. 10:313. 2022.
DOIHarmonization of human biomonitoring studies in Europe: characteristics of the HBM4EU aligned studies participants
Gilles L, Govarts E, Rodriguez Martin L, Andersson AM, Appenzeller BMR, Barbone F, Castaño A, Coertjens D, Den Hond E, Dzhedzheia V, Eržen I, Esteban López M, et al. Harmonization of human biomonitoring studies in Europe: characteristics of the HBM4EU aligned studies participants. Int J Environ Res Public Health. 19:6787. 2022.
DOIMethylmercury Risk Assessment Based on European Human Biomonitoring Data
Domínguez-Morueco N, Pedraza-Díaz S, González-Caballero MC, Esteban-López M, Alba-González M, Katsonouri A, Santonen T, Cañas-Portilla A, Castaño A. Methylmercury Risk Assessment Based on European Human Biomonitoring Data. Toxics. 10: 427. 2022.
DOISocio-Demographic Health Determinants Are Associated with Poor Prognosis in Spanish Patients Hospitalized with COVID-19
Martín-Sánchez J, Valls Carbó A, Miró O, Llorens P, Jiménez S, Piñera P, Burillo-Putze G, Martín A, García-Lamberechts JE, Jacob J, Alquézar A, Martínez-Valero C, Miranda J de D, López Picado A, Arrebola JP, Esteban López M, Parviainen A, González del Castillo J, on behalf of the Spanish Social-Environmental COVID-19. Socio-Demographic Health Determinants Are Associated with Poor Prognosis in Spanish Patients Hospitalized with COVID-19. J Gen Intern Med. 2021.
DOIBiomarkers, matrices and analytical methods targeting human exposure to chemicals selected for a European human biomonitoring initiative
Vorkamp K, Castaño A, Antignac JP, Boada LD, Cequier E, Covaci A, Esteban López M, Haug LS, Kasper-Sonnenberg M, Koch HM, Pérez Luzardo O, Osite A, Rambaud L, Pinorini MT, Sabbioni G, Thomsen C. Biomarkers, matrices and analytical methods targeting human exposure to chemicals selected for a European human biomonitoring initiative. Environ Int 146. 2020.
DOICase study: Possible differences in phthalates exposure among the Czech, Hungarian, and Slovak populations identified based on the DEMOCOPHES pilot study results
Černá M, Malý M, Rudnai P, Középesy S, Náray M, Halzlová K, Jajcaj M, Grafnetterová A, Krsková A, Antošová D, Forysová K, Hond ED, Schoeters G, Joas R, Casteleyn L, Joas A, Biot P, Aerts D, Angerer J, Bloemen L, Castaño A, Esteban M, Koch HM, Kolossa-Gehring M, Gutleb AC, Pavloušková J, Vrbík K. Case study: Possible differences in phthalates exposure among the Czech, Hungarian, and Slovak populations identified based on the DEMOCOPHES pilot study results. Environ Res. 141:118-124. 2015.
DOIMercury exposure in Ireland: Results of the DEMOCOPHES human biomonitoring study
Cullen E, Evans D, Davidson F, Burke P, Flanagan A, Griffin C, Kellegher A, Mannion R, Mulcahy M, Ryan M, Biot P, Casteleyn L, Castaño A, Angerer J, Koch HM, Esteban M, Schindler BK, Navarro C, Kolossa-Gehring M, Fiddicke U, Schoeters G, Den Hond E, Sepai O, Exley O, Bloemen L, Knudsen LE, Joas R, Joas A, Aerts D. Mercury exposure in Ireland: Results of the DEMOCOPHES human biomonitoring study. Int J Environ ResPublic Health. 11: 9760-9775. 2014.
DOI. Blood lead levels in a representative sample of the Spanish adult population: The BIOAMBIENT.ES project
Cañas AI, Cervantes-Amat M, Esteban M, Ruiz-Moraga M, Pérez-Gómez B, Mayor J, Castaño A, BIOAMBIENT.ES. Blood lead levels in a representative sample of the Spanish adult population: The BIOAMBIENT.ES project. Int J Hyg Environ Health. 217:452-459. 2014.
DOIHair mercury and urinary cadmium levels in Belgian children and their mothers within the framework of the COPHES/DEMOCOPHES projects
Pirard C, Koppen G, De Cremer K, Van Overmeire I, Govarts E, Dewolf MC, Van De Mieroop E, Aerts D, Biot P, Casteleyn L, Kolossa-Gehring M, Schwedler G, Angerer J, Koch HM, Schindler BK, Castaño A, Esteban M, Schoeters G, Den Hond E, Sepai O, Exley K, Horvat M, Bloemen L, Knudsen LE, Joas R, Joas A, Van Loco J, Charlier C. Hair mercury and urinary cadmium levels in Belgian children and their mothers within the framework of the COPHES/DEMOCOPHES projects. Sci Total Environ. 472:730-740. 2014.
DOIBIOAMBIENT.ES study protocol: rationale and design of a cross-sectional human biomonitoring survey in Spain
Pérez- Gómez B, Pastor-Barriuso R, Cervantes-Amat M, Esteban M, Ruíz-Moraga M, Aragonés N, Pollán M, Navarro C, Calvo E, Román J, López-Abente G, Castaño A on behalf of BIOAMBIENT.ES. BIOAMBIENT.ES study protocol: rationale and design of a cross-sectional human biomonitoring survey in Spain. Environ Sci Pollut Res. 20: 1193-1202. 2013.
DOIMercury, lead and cadmium levels in the urine of 170 Spanish adults: A pilot human biomonitoring study
Castaño A, Sánchez-Rodríguez J E, Cañas A, Esteban M, Navarro C, Rodríguez-García AC, Arribas M, Díaz G, Jiménez-Guerrero JA. Mercury, lead and cadmium levels in the urine of 170 Spanish adults: A pilot human biomonitoring study. Int J Hyg Environ Health.215: 191-195. 2012.
DOISelecting the best non-invasive matrix to measure mercury exposure in human biomonitoring surveys
Esteban López M, Arrebola JP, Juliá M, Pärt P, Soto E, Cañas A, Pedraza-Díaz S, González-Rubio J, Castaño A. Selecting the best non-invasive matrix to measure mercury exposure in human biomonitoring surveys. Environ Res. 204: 112394. 2021.
DOIA Phased Approach for preparation and organization of human biomonitoring studies
Fiddicke U, Pack IK, Tolonene H, Sepai O, Esteban López M, Castaño A, Schoeters G, Kolossa-Gehring M. A Phased Approach for preparation and organization of human biomonitoring studies. Int J Hyg Environ Health. 232: 113684. 2021.
DOIInformación adicional
Nuestro objetivo principal es estudiar las interacciones entre determinados factores genéticos y medioambientales, como son las proteínas Ras y los contaminantes ambientales, como factores de riesgo en los trastornos del neurodesarrollo.
Para ello, emplearemos varias aproximaciones metodológicas, desde la biología molecular y celular a la electrofisiología, la histología y el estudio de la conducta animal.
Nuestra hipótesis es que las condiciones genéticas que favorecen la activación basal de la vía Ras-MAPK (como es el caso de las rasopatías) pueden tener una mayor susceptibilidad a la exposición a contaminantes ambientales.