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Investigación
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
Content with Investigacion .
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
The First steps towards harmonised human biomonitoring in Europe: Demonstration Project to Perform Human Biomonitoring on a European Scale
Den Hond E, Govarts E, Willems H, Smolders R, Casteleyn L, Kolossa – Gehring M, Schwedler G, Seiwert M, Fiddicke U, Castaño A, Esteban M, Angerer J, Koch HM, Schindler BK Sepai O, Exley K, Bloemen L, Horvat M, Knudsen LE, Joas A, Joas R, Biot P, Aerts D, Koppen G, Katsonouri A, Hadjipanayi A, Krskova A, Maly M, Mørck TA, Rudnai P, Kozepesy S, Mulcahy M, Mannion R, Gutleb AC, Fischer ME, Ligocka D, Jakubowski J, Reis MF, Namorado S, GurzauAE, Lupsa IR, Halzlova K, Jajcaj M, Mazej D, Tratnik JS, López A, López E, Berglund M, Larsson K, Lehmann A,Crettaz P, choeters G. The First steps towards harmonised human biomonitoring in Europe: Demonstration Project to Perform Human Biomonitoring on a European Scale. Environ Health Perspect. 123:255-263.2015.
DOIA pilot study on the feasibility of European harmonized human biomonitoring: strategies towards a common approach, challenges and opportunities.
Casteleyn L, Dumez B, Becker K, Kolossa-Gehring M, Den Hond E, Schoeters G, Castaño A, Koch HM, Angerer J, Esteban M, Exley K, Sepai O, Bloemen L, Horvat M, Knudsen LE, Joas A, Joas R, Biot P, Koppen G, Dewolf M-C, Katsonouri A ,Hadjipanayism A, Cerná M, Krsková A, Schwedler G, Fiddicke U, Nielsen JKS, Jensen JF, Rudnai P, Közepésy S, Mulcahy M, Mannion R, Gutleb AC, Fischer ME, Ligocka D, Jakubowski M, Reis MF, Namorado S, Lupsa I-R, Gurzau AE, Halzlova K, Jajcaj M, Mazej D, Tratnik Snoj J, Posada M, López E, Berglund M, Larsson K, Lehmann A, Crettaz P, Aerts D. A pilot study on the feasibility of European harmonized human biomonitoring: strategies towards a common approach, challenges and opportunities. Environ Res. 141:3-14. 2015.
DOIPilot study testing a European human biomonitoring framework for biomarkers of chemical exposure in children and their mothers: experiences in the UK
Exley K, Aerts D, Biot P,CasteleynL, Kolossa-Gehring M, Schwedler G, Castaño A, Angerer J, Koch HM, Esteban M, Schindler BK, Schoeters G, Den Hond G, Horvat M, Bloemen L, Knudsen LE, Joas R, Joas A, Sepai O. Pilot study testing a European human biomonitoring framework for biomarkers of chemical exposure in children and their mothers: experiences in the UK. Sci Pollut Res. 2015.
DOIRisk of overestimation of urinary cadmium concentrations: interference from molybdenum
Cañas A, Esteban M, Cutanda F, Castaño A. Risk of overestimation of urinary cadmium concentrations: interference from molybdenum. ICHMET 2012 Conference proceedings. E3S Web of Conferences 1, 21003. 2013.
DOILearning from previous work and finding synergies in the domains of public and environmental health: EU-funded projects BRIDGE Health and HBM4EU
David M, Schweler G, Reiber L, Tolonen H, Andersson AM, Esteban López M, Joas A, Schöpel M, Kolossa – Gehring M. Learning from previous work and finding synergies in the domains of public and environmental health: EU-funded projects BRIDGE Health and HBM4EU. Arch Public Health 78. 2020.
DOIMothers and children are related, even in exposure to chemicals present in common consumer products
Koppen G, Govarts E, Vanermen G, Voorspoels S, Govindan M, Dewolf MC, Den Hond E, Biote P, Casteleyn L, Kolossa-Gehring M, Schwedler G, Angerer J, Koch HM, Schindler BK., Castaño A, Esteban López M, Sepai O, Exley K, Bloemen L, Knudsen LE, Joas R, Joas A, Schoeters G Covaci A. Mothers and children are related, even in exposure to chemicals present in common consumer products. Environ Res 175: 297–307. 2019.
DOIA review of human biomonitoring in selected Southeast Asian countries
Barnett - Itzhaki Z, Esteban López M, Puttaswamy N, Berman T. A review of human biomonitoring in selected Southeast Asian countries. Environ Int. 116:165-164. 2018.
DOIUrinary polycyclic aromatic hydrocarbon metabolites levels in a representative sample of the Spanish adult population: the BIOAMBIENT.ES project
Bartolomé M, Ramos JJ, Cutanda F, Huetos O, Esteban M, Ruiz-Moraga M, Calvo E, Pérez-Gómez B, González O, Castaño A. Urinary polycyclic aromatic hydrocarbon metabolites levels in a representative sample of the Spanish adult population: the BIOAMBIENT.ES project. Chemosphere 135:436-446. 2015.
DOICommunication in a human biomonitoring study: focus group work, public engagement and lessons learnt in 17 European countries
Exley K, Cano N, Aerts D, Biot P, Casteleyn L, Kolossa-Gehring M, Schwedler G, Castaño A, Angerer J, Koch HK, Esteban M, Schoeters G, Den Hond E, Horvat M, Bloemen L, Knudsen LE, Joas R, Joas A, Dewolf MC, Van de Mieroop E, Katsonouri A, Hadjipanayis A, Cerna M, Krskova A, Becker K, Fiddicke U, Seiwert M, Mørck TA, Rudnai P, Kozepesy S, Cullen E, Kellegher A, Gutleb AC, Fischer ME, Ligocka D, Kamińska J, Namorado S, Reis MF, Lupsa I-R, Gurzau AE, Halzlova K, Jajcaj M, Mazej D, Tratnik JS, Huetos O, López A, Berglund M, Larsson K, Sepai O. Communication in a human biomonitoring study: focus group work, public engagement and lessons learnt in 17 European countries. Environ Res. 141:31-41. 2015.
DOIHBM4EU chromates study - Overall results and recommendations for the biomonitoring of occupational exposure to hexavalent chromium
Santonen T, Porras SP, Bocca B, Bousoumah R, Duca RC, Galea KS, Godderis L, Göen T, Hardy E, Iavicoli I, Janasik B, Jones K, Leese E, Leso V, Louro H, Majery N, Ndaw S, Pinhal H, Ruggieri F, Silva MJ, van Nieuwenhuyse A, Verdonck J, Viegas S, Wasowicz W, Sepai O, Scheepers PTJ, HBM4EU chromates study team. HBM4EU chromates study - Overall results and recommendations for the biomonitoring of occupational exposure to hexavalent chromium. Environ Res 201: 111984. 2022.
DOIInterlaboratory Comparison Investigations (ICIs) and External Quality Assurance Schemes (EQUASs) for Flame Retardant Analysis in Biological Matrices: Results from the HBM4EU Project
Dvorakova D, Pulkrabova J, Gramblicka T, Polachova A, Buresova M, Hajslova J, Esteban López M, Castaño A, Nübler S, Haji-Abbas-Zarrabi K, Klausner N, Göen T, Mol H, Koch HM, Vaccher V, Antignac JP, Småstuen Haug L, Vorkamp K. Interlaboratory Comparison Investigations (ICIs) and External Quality Assurance Schemes (EQUASs) for Flame Retardant Analysis in Biological Matrices: Results from the HBM4EU Project. Environ Res 202. 2021.
DOIInterlaboratory comparison investigations (ICI) and external quality assurance schemes (EQUAS) for cadmium in urine and blood: Results from the HBM4EU project
Nübler S, Esteban López M, Castaño A, Mol H, Schäfer M, Haji-Abbas-Zarrabi K, Bury D, Koch HM, Vaccher V, Antignac JP, Dvorakova D, Hajslova J, Thomsen C, Vorkamp K, Göen T. Interlaboratory comparison investigations (ICI) and external quality assurance schemes (EQUAS) for cadmium in urine and blood: Results from the HBM4EU project. Int J Hyg Environ Health. 234. 2021.
DOITowards harmonized criteria in Quality Assurance and Quality Control of suspect and non-target LC-HRMS analytical workflows for screening of emerging contaminants in human biomonitoring
Caballero-Casero N, Belova L, Vervliet P, Antignac JP, Castaño A, Debrauwer L, Esteban López M, Huber C, Klanova J, Krauss M, Lommen A, Mol HGJ, Oberacher H, Pardo O, Price EJ, Reinstadler V, Vitale CM, van Nuijs ALN, Covaci A. Towards harmonized criteria in Quality Assurance and Quality Control of suspect and non-target LC-HRMS analytical workflows for screening of emerging contaminants in human biomonitoring. TrAC 136. 2021.
DOITowards harmonized biobanking for biomonitoring: a comparison of human biomonitoring-related and clinical biorepositories
Lermen D, Gwinner F, Bartel-Steinbach M, Mueller SC, Habermann JK, Balwir MB, Smits E, Virgolino A, Fiddicke U, Berglund M, Akesson A, Bergstrom A, Leander K, Horvat M, Snoj Tratnik J, Posada de la Paz M, Castaño A, Esteban López M, von Briesen H, Zimmermann H, and Kolossa-Gehring M. Towards harmonized biobanking for biomonitoring: a comparison of human biomonitoring-related and clinical biorepositories. Biopreserv biobank 18:122-135. 2020.
DOIUrinary phthalate concentrations in mothers and their children in Ireland: results of the DEMOCOPHES human biomonitoring study
Cullen E, Evans D, Griffin C, Burke P, Mannion R, Burns D, Flanagan A, Kellegher A, Schoeters G, Govarts E, Biot P, Casteleyn L, Castaño A, Kolossa-Gehring M, Esteban M, Schwedler G, Koch H, Angerer J, Knudsen L, Joas R, Joas A, Dumez B, Sepai O, Exley K, Aerts D. Urinary phthalate concentrations in mothers and their children in Ireland: results of the DEMOCOPHES human biomonitoring study. Int J Environ Res Public Health. 14: 1456. 2017.
DOIFish consumption patterns and hair mercury levels in children and their mothers in 17 EU countries
Castaño A, Cutanda F, Esteban M, Pärt P, Navarro C, Gómez S, Rosado M, López A, López E, Exley K, Schindler BK, Govarts E, Casteleyn L, Kolossa-Gehring M, Fiddicke U, Koch H , Angerer J, Den Hond E, Schoeters G, Sepai O, Horvat M, Knudsen LE , Aerts D, Joas A, Biot P, Joas R, Jiménez-Guerrero JA, Díaz G, Pirard C, Katsonouri A, Cerna M, Gutleb AC, Ligocka D, Reis FM, Berglund M, Lupsa IR, Halzlová K, Charlier C, Cullen E, Hadjipanayis A, Krsková A, Jensen JF, Nielsen JK, Schwedler G, Wilhelm W, Rudnai P, Középesy S, Davidson F, Fischer ME, Janasik B, Namorado S , Gurzau AE, Jajcaj M, Mazej D, Tratnik JS, Larsson K, Lehmann A, Crettaz P, Lavranos G, Posada M. Fish consumption patterns and hair mercury levels in children and their mothers in 17 EU countries. Environ Res. 141: 58-68. 2015.
DOIUrinary levels of eight phthalates metabolites and bisphenol A in mother – child pairs from two Spanish locations
Cutanda F, Koch HM, Esteban M, Sánchez J, Angerer J, Castaño A. Urinary levels of eight phthalates metabolites and bisphenol A in mother – child pairs from two Spanish locations. Int J Hyg Environ Health. 218: 47–57. 2015.
DOIUrinary BPA measurements in children and mothers from six European member states: Overall results and determinants of exposure
Covaci A, Den Hond E, Geens T, Govarts E, Koppen G, Frederiksen H, Knudsen LE, Mørck TA, Gutleb A, Guignard E, Cocco E, Horvat M, Heath E, Kosjek T, Mazej D, Tratnik JS, Castaño A, Esteban M, Cutanda F,Ramos JJ, Berglund M, Larsson K, Jönsson BAG, Biot P, Casteleyn L, Joas R, Joas A, Bloemen L, Sepai O, Exley K, Schoeters G, Angerer J, Kolossa-Gehring M, Fiddicke U, Aerts D, Koch HM. Urinary BPA measurements in children and mothers from six European member states: Overall results and determinants of exposure. Environ Res. 141: 77-85. 2015.
DOILessons learnt on recruitment and fieldwork from a pilot European human biomonitoring survey
Fiddicke U, Becker K, Schwedler G, Seiwert M, Joas R, Joas A, Biot P, Aerts D, Casteleyn L, Dumez B, Castaño A, Esteban M, Angerer J, Koch HM, Schoeters G, Den Hond E, Sepai O, Exley K, Knudsen LE, Horvat M, Bloemen L, Katsonouri A, Hadjipanayis A, Cerna M, Krsková A, Jensen JF, Nielsen JKS, Rudnai P, Közepésy S, Gutleb AC, Fischer ME, Ligocka D, KaminskaJ, Reis MF, Namorado S, Lupsa IR, Gurzau AE, Halzlova K, Mazej D, Tratnik JS, Rivas TC,Gómez S, Berglund M, Larsson K, Lehmann A, Crettaz P, Dewolf MC, Burns D, Kellegher A, Kolossa-Gehring M. Lessons learnt on recruitment and fieldwork from a pilot European human biomonitoring survey. Environ Res. 141:15-23. 2015.
DOIDemocophes Hu – A Human Biomonitoring Study for the Assessment of Environmental Exposures of School-Aged Children and their Mothers in Hungary
Középesy S, Kovács K, Náray M, Tóth E, Csaja T, Frankó E, 4, Kovács A, János Varró M, Den Hond E, Govarts E, Willems H, Smolders R, Casteleyn L , Kolossa-Gehring M, Schwedler G, Castaño A, Esteban M, et al. Democophes Hu – A Human Biomonitoring Study for the Assessment of Environmental Exposures of School-Aged Children and their Mothers in Hungary. Central European Journal of Occupational and Environmental Medicine. 23: 191. 2017.
Información 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.