Directory
SÁNCHEZ FERNÁNDEZ, Mayka
Ext. 5263
Department of Basic Areas
Hereditary Hematology and Iron metabolism
SÁNCHEZ FERNÁNDEZ, Mayka
CV
Teacher profile
Professor Agregat o Titular
Basic Areas, DEPARTMENT OF BASIC SCIENCIES. Universitat Internacional de Catalunya
Academic curriculum
- Doctora en Biologia- Genètica Universitat de Barcelona
- Licenciada en Bioquímica Universitat de Barcelona
Publications
Articles
- Maus, M.; López, V.; Mateo, L.; Lafarga, M.; Aguilera, M.; De Lama, E.; Meyer, K.; Sola, A.; Lopez, C.; López, I.; Guasch, M.; Hernandez, F.; Chaib, S.; Rovira, M.; Sánchez, M.; Faner, R.; Agusti, A.; Diéguez, R.; Ortega, S.; Manonelles, A.; Engelhardt, S.; Monteiro, F.; Stephan-Otto, C.; Prats, N.; Albaiceta, G.; Cruzado, J.; Serrano, M., (2023), "Iron accumulation drives fibrosis, senescence and the senescence-associated secretory phenotype", NATURE METABOLISM, vol. 5, pp. 2111-2130, ISSN: 2522-5812.
- Mara, M.; Venturi, V.; Ferrer, X.; Romero, L.; Hernández Viedma, G.; Leoz, P.; Ricard, M.; Morado, M.; Fernández , M.; Beneitez, D.; Ortuño, A.; Moreno, M.; Senent, L.; Perez-Valencia, A.; Pérez-Montero, S.; Tornador, C.; Sánchez, M., (2023), "New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II", International Journal of Molecular Sciences, vol. 24, No. 12, ISSN: 1422-0067.
- Mara, M.; Venturi, V.; Ferrer, X.; Romero, L.; Hernandez, G.; Leoz, P.; Ricard, M.; Morado, M.; Fernández, M.; Beneitez, D.; Ortuño, A.; Moreno, M.; Senent, L.; Perez, A.; Pérez-Montero, S.; Tornador, C.; Sánchez, M., (2023), "New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II", International Journal of Molecular Sciences, vol. 24, No. 12, ISSN: 1422-0067.
- Hernández Viedma, G.; Romero, L.; Ferrer, X.; Venturi, V.; Dessy, M.; Olivella, M.; Husami, A.; Pérez, C.; Morales, R.; Villegas, A.; González , F.; Morado, M.; Kalfa, T.; Quintana, O.; Pérez-Montero, S.; Tornador, C.; Segovia, J.; Sánchez, M., (2023), "Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III", Haematologica-the Hematology journal, vol. 108, No. 2, pp. 581-587, ISSN: 0390-6078.
- Romero, L.; Venturi, V.; Martín-Sánchez, JC; Kosta, K.; Prince, D.; Butzeck, B.; Porto, G.; Thorm, N.; Sánchez, M., (2023), "Haemochromatosis patients' research priorities: Towards an improved quality of life", Health Expectations, ISSN: 1369-7625.
- Hernandez, G.; Romero, L.; Ferrer, X.; Venturi, V.; Dessy, M.; Olivella, M.; Husami, A.; Pérez, C.; Morales, R.; Villegas, A.; González , F.; Morado, M.; Kalfa, T.; Quintana, O.; Pérez-Montero, S.; Tornador, C.; Segovia, J.; Sánchez, M., (2022), "Mutations in the RACGAP1 gene cause autosomal recessive Congenital Dyserythropoietic Anemia type III.", Haematologica-the Hematology journal, ISSN: 0390-6078.
- Sánchez, M., (2022), "The use of next-generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper*", British Journal of Haematology, vol. 198, No. 3, pp. 459-459, ISSN: 1365-2141.
- Roy, N.; Da Costa, L.; Russo, R.; Bianchi, P.; Manu-Pereira, M.; Fermo, E.; Andolfo, I.; Clark, B.; Proven, M.; Sánchez, M.; van Wijk, R.; van der Zwaag, B.; Layton, M.; Rees, D.; Iolascon, A., (2022), "The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper", Hemasphere, vol. 6, No. 6, ISSN: 2572-9241.
- Romero, L.; Hernández Viedma, G.; Ferrer, X.; Zalba-Jadraque, L.; Fuster, JL.; Bermúdez-Cortés, M.; Galera-Minarro, A.; Pérez-Montero, S.; Tornador, C.; Sánchez, M., (2022), "New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation", International Journal of Molecular Sciences, vol. 23, No. 8, ISSN: 1422-0067.
- Romero, L.; Hernandez, G.; Ferrer, X.; Zalba-Jadraque, L.; Fuster, JL.; Bermúdez-Cortés, M.; Galera-Minarro, A.; Pérez-Montero, S.; Tornador, C.; Sánchez, M., (2022), "New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation", International Journal of Molecular Sciences, vol. 23, No. 8, ISSN: 1422-0067.
- Hernández Viedma, G.; Ferrer, X.; Venturi, V.; Mara, M.; Floor, M.; Munoz-Torres, PM.; Hernández-Rodriguez, I.; Ruiz Mínguez, M.A.; Kelleher, N.J.; Pelucchi, S.; Piperno, A.; Plensa Alberca, E.; Gener Ricós, G.; Cañamero Giró, E.; Pérez-Montero, S.; Tornador, C.; Villà-Freixa, J.; Sánchez, M., (2021), "New mutations in hfe2 and tfr2 genes causing non hfe-related hereditary hemochromatosis", Genes, vol. 12, No. 12, ISSN: 2073-4425.
- Hernandez, G.; Ferrer, X.; Venturi, V.; Musri, M.; Floor, M.; Munoz-Torres, PM.; Hernández-Rodriguez, I.; Ruiz Mínguez, M.A.; Kelleher, N.J.; Pelucchi, S.; Piperno, A.; Plensa Alberca, E.; Gener Ricós, G.; Cañamero Giró, E.; Pérez-Montero, S.; Tornador, C.; Villà-Freixa, J.; Sánchez, M., (2021), "New mutations in hfe2 and tfr2 genes causing non hfe-related hereditary hemochromatosis", Genes, vol. 12, No. 12, ISSN: 2073-4425.
- Celma, F.; Hernández Viedma, G.; Ferrer, X.; Hernández-Rodriguez, I.; Navarro-Almenzar, B.; Fuster, JL.; Bermúdez-Cortés, M.; Pérez-Montero, S.; Tornador, C.; Sánchez, M., (2021), "Hereditary hyperferritinemia cataract syndrome: Ferritin l gene and physiopathology behind the disease—report of new cases", International Journal of Molecular Sciences, vol. 22, No. 11, ISSN: 1422-0067.
- Celma, F.; Hernandez, G.; Ferrer, X.; Hernández-Rodríguez, I.; Navarro-Almenzar, B.; Fuster, JL.; Bermúdez Cortés, M.; Pérez-Montero, S.; Tornador, C.; Sánchez, M., (2021), "Hereditary hyperferritinemia cataract syndrome: Ferritin l gene and physiopathology behind the disease—report of new cases", International Journal of Molecular Sciences, vol. 22, No. 11, ISSN: 1422-0067.
- Duncamp, S.; Luscieti, S.; Ferrer, X.; Nicolas, G.; Manceau, H.; Peoc’h, K.; Yien, Y.Y.; Kannengiesser, C.; Gouya, L.; Puy, H.; Sánchez, M., (2021), "A mutation in the Iron-Responsive Element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated Erythropoietic Protoporphyria", Haematologica-the Hematology journal, vol. 106, No. 7, pp. 2030-2033, ISSN: 0390-6078.
- Dessy, M.; Fañanas, S.; Venturi, V.; Payan, S.; Tornador, C.; Hernández, G.; Bianchi, P.; Sánchez, M.; Ramirez, J.C.; Segovia, J.; Quintana, O., (2021), "Lentiviral Gene Therapy for the Correction of Congenital Dyserythropoietic Anemia Type II", Blood, vol. 138, No. 1, ISSN: 0006-4971.
- Tybl, E.; Gunshin, H.; Gupta, S.; Barrientos, T.; Bonadonna, M.; Celma, F.; Palais, G.; Karim, Z.; Sánchez, M.; Andrews, N.; Galy, B., (2020), "Control of Systemic Iron Homeostasis by the 3' Iron-Responsive Element of Divalent Metal Transporter 1 in Mice", Hemasphere, vol. 4, No. 5, ISSN: 2572-9241.
- Vila-Cuenca, M.; Marchi, G.; Barque, A.; Esteban-Jurado, C.; Marchetto, A.; Giorgetti , A.; Chelban, V.; Houlden, H.; Wood , NW.; Piubelli, C.; Dorigatti-Borges, M.; Martins-de-Albuquerque, D.; Yotsumoto-Fertrin, K.; Jové-Buxeda, E.; Sanchez-Delgado, J.; Baena-Díez, N.; Burnyte, B.; Utkus, A.; Busti, F.; Kaubrys, G.; Suku, E.; Kowalczyk, K.; Karaszewski, B.; Porter, JB.; Pollard, S.; Eleftheriou, P.; Bignell, P.; Girelli, D.; Sánchez, M., (2020), "Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis", International Journal of Molecular Sciences, vol. 21, No. 7, ISSN: 1422-0067.
- Dessy, M.; Fañanas, S.; Venturi, V.; Payán, S.; Tornador, C.; Hernandez, G.; Sánchez, M.; Segovia, J.; Quintana, O., (2020), "Modelling Congenital Dyserythropoietic Anemia Type II through Gene Editing in Hematopoietic Stem and Progenitor Cells", Blood, vol. 136, No. 1, ISSN: 0006-4971.
- Tornador, C.; Sánchez-Prados, E.; Cadenas, B.; Russo, R.; Venturi, V.; Andolfo, I.; Hernández-Rodriguez, I.; Iolascon, A.; Sánchez, M., (2019), "CoDysAn: a telemedicine tool to improve awareness and diagnosis for patients with congenital dyserythropoietic anemia", Frontiers in Physiology, vol. 10, ISSN: 1664-042X.
- Cadenas, B.; Fita-Torró, J.; Bermúdez-Cortés, M.; Hernández-Rodriguez, I.; Fuster, JL.; Llinares, ME.; Galera, AM.; Romero, JL.; Pérez-Montero, S.; Tornador, C.; Sánchez, M., (2019), "L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases", Pharmaceuticals, vol. 12, No. 1, ISSN: 1424-8247.
- Riley LG; Heeney, M.; Rudinger-Thirion, J.; Frugier, M.; Campagna, D.R.; Zhou, R.; Hale, G.; Hilliard, LM.; Kaplan, J.A.; Kwiatkowski, J.L.; Sieff, C.A.; Steensma, D.P.; Rennings, A.J.; Simons, A.; Schaap, N.; Roodenburg, R.J.; Kleefstra, T.; Arenillas, L.; Fita-Torró, J.; Ahmed, R.; Abboud, M.; Bechara, E.; Farah, R.; Tamminga, R.Y.J.; Bottomley, S.S.; Sánchez, M.; Swinkels, D.W.; Christodoulou, J.; Fleming, M.D., (2018), "The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2", Haematologica-the Hematology journal, vol. 103, No. 12, pp. 2008-2015, ISSN: 0390-6078.
- Adams, P.; Altes Hernández, A.; Brissot, P.; Butzeck, B.; Cabantchik, I.; Cançado, R.; Distante, S.; Evans, P.; Evans, R.; Ganz, T.; Girelli, D.; Hultcrantz, R.; McLaren, G.; Marris, B.; Milman, N.; Nemeth, E.; Nielsen, P.; Pineau, B.; Piperno, A.; Porto, G.; Prince, D.; Ryan, J.; Sánchez, M.; Santos, P.; Swinkels, D.; Teixeira, E.; Kosta, K.; Vanclooster, A.; White, D., (2018), "Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype", Hepatology international, vol. 12, No. 2, pp. 83-88, ISSN: 1936-0533.
- Van de Sompele, S.; Pécheux, L.; Couso, J.; Meunier, A.; Sánchez, M.; De Baere, E., (2017), "Functional characterization of a novel non-coding mutation "Ghent +49A > G" in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome.", Scientific Reports, vol. 7, No. 18025, pp. 1-10, ISSN: 2045-2322.
- Luscieti, S.; Galy, B.; Gutierrez, L.; Reinke, M.; Couso, J.; Shvartsman, M.; Di Pascale, A.; Witke, W.; Hentze, M.W.; Pilo Boyl, P.; Sánchez, M., (2017), "The actin binding protein profilin 2 is a novel regulator of iron homeostasis.", Blood, vol. 130, No. 17, pp. 1934-1945, ISSN: 0006-4971.
- Barqué, A.; Sánchez, M., (2017), "Cuando el hierro es tóxico", Genética Médica y Genómica, vol. 1, No. 1, pp. 49-60, ISSN: 2605-0463.
- Engert, A.; Balduini, C.; Brand, A.; Coiffier, B.; Sánchez, M.; European Hematology Research authors, A., (2016), "The European Hematology Association Roadmap for European Hematology Research: a consensus document", Haematologica-the Hematology journal, vol. 101, No. 2, pp. 115-208, ISSN: 0390-6078.
- Joshi, R.; Shvartsman, M.; Morán, E.; Lois, S.; Aranda, J.; Barqué, A.; de la Cruz, X.; Bruguera, M.; Vagace, J.M.; Gervasini, G.; Sanz, C.; Sánchez, M., (2015), "Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3", Molecular genetics and genomics, vol. 3, No. 3, pp. 221-232, ISSN: 1617-4615.
- de Falco, L.; Silvestri, L.; Kannengiesser, C.; Morán, E.; Oudin, C.; Rausa, M.; Bruno, M.; Aranda, J.; Argiles, B.; Yenicesu, I.; Falcon-Rodriguez, M.; Yilmaz-Keskin, E.; Kocak, U.; Beaumont, C.; Camaschella, C.; Iolascon, A.; Grandchamp , B.; Sánchez, M., (2014), "Functional and Clinical Impact of Novel Tmprss6 Variants in Iron-Refractory Iron-Deficiency Anemia Patients and Genotype-Phenotype Studies", Human mutation, vol. 35, No. 11, pp. 1321-1329, ISSN: 1059-7794.
- Teixeira, E.; Borlido-Santos, J.; Brissot, P.; Butzeck, B.; Courtois, F.; Evans, R.W.; Fernau, J.; Nunes, J.A.; Mullett, M.; Paneque, M.; Pineau, B.; Porto, G.; Sorrill, R.; Sánchez, M.; Swinkels, D.W.; Toska, K.; Varkonyi, J.; EFAPH, (2014), "The importance of the general practitioner as an information source for patients with hereditary haemochromatosis", Patient education and counseling, vol. 96, No. 1, pp. 86-92, ISSN: 0738-3991.
- Altés, A.; Pérez-Lucena, M.J.; Bruguera, M.; Sánchez, M.; Grp Iberico Ferropatologia, (2014), "Systematic approach to the diagnosis of hyperferritinemia", Medicina Clinica, vol. 142, No. 9, pp. 412-417, ISSN: 1578-8989 00257753.
- Tzou, W.S.; Chu, Y.; Lin, T.Y.; Hu, C.H.; Pai, T.W.; Liu, H.F.; Lin, H.J.; Cases, I.; Rojas, A.; Sánchez, M.; You, Z.Y.; Hsu, M.W., (2014), "Molecular Evolution of Multiple-Level Control of Heme Biosynthesis Pathway in Animal Kingdom", PLoS One, vol. 9, No. 1, ISSN: 1932-6203.
- Athiyarath, R.; Arora, N.; Fuster, F.; Schwarzenbacher, R.; Ahmed, R.; George, B.; Chandy, M.; Srivastava, A.; Rojas, A.M.; Sánchez, M.; Edison, E.S., (2013), "Two novel missense mutations in iron transport protein transferrin causing hypochromic microcytic anaemia and haemosiderosis: molecular characterization and structural implications", British journal of haematology, vol. 163, No. 3, pp. 404-407, ISSN: 0007-1048.
- de Falco, L.; Sánchez, M.; Silvestri, L.; Kannengiesser, C.; Muckenthaler, M.; Iolascon, A.; Gouya, L.; Camaschella, C.; Beaumont, C., (2013), "Iron refractory iron deficiency anemia", Haematologica-the Hematology journal, vol. 98, No. 6, pp. 845-853, ISSN: 0390-6078.
- Luscieti, S.; Tolle, G.; Aranda, J.; Benet-Campos, C.; Risse F.; Morán, E.; Muckenthaler, M.; Sánchez, M., (2013), "Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome", Orphanet journal of rare diseases, vol. 8, ISSN: 1750-1172.
- Liu, Z.; Lanford, R.; Mueller, S.; Gerhard, G.S.; Luscieti, S.; Sánchez, M.; Devireddy, L., (2012), "Siderophore-mediated iron trafficking in humans is regulated by iron", Journal of molecular medicine (JMM), vol. 90, No. 10, pp. 1209-1221, ISSN: 0946-2716.
- Sánchez, M.; Galy, B.; Schwanhaeusser, B.; Blake, J.; Bähr-Ivacevic, T.; Benes, V.; Selbach, M.; Muckenthaler, M.; Hentze, M.W., (2011), "Iron regulatory protein-1 and-2: transcriptome-wide definition of binding mRNAs and shaping of the cellular proteome by iron regulatory proteins", Blood, vol. 118, No. 22, pp. e168-e179, ISSN: 0006-4971.
- Rodrigues P.N; Gomes, S.; Neves, J.; Gomes-Pereira, S.; Correia-Neves, M.; Nunes-Alves, C.; Stolte, J.; Sánchez, M.; Appelberg, R.; Muckenthaler, M., (2011), "Mycobacteria-induced anaemia revisited: A molecular approach reveals the involvement of NRAMP1 and lipocalin-2, but not of hepcidin", Immunobiology, vol. 216, No. 10, pp. 1127-1134, ISSN: 0171-2985.
- Kannengiesser, C.; Sánchez, M.; Sweeney, M.; Hetet, G.; Kerr, B.; Moran, E.; Fuster Soler, J.; Maloum, K.; Matthes, T.; Oudot, C.; Lascaux, A.; Pondarre, C.; Sevilla Navarro, J.; Vidyatilake, S.; Beaumont, C.; Grandchamp , B.; May, A., (2011), "Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia", Haematologica-the Hematology journal, vol. 96, No. 6, pp. 808-813, ISSN: 0390-6078.
- Campillos, M.; Cases, I.; Hentze, M.W.; Sánchez, M., (2010), "SIREs: searching for iron-responsive elements", Nucleic acids research, vol. 38, No. sup. 2, pp. W360-W367, ISSN: 0305-1048.
- Vainshtein, Y.; Sánchez, M.; Brazma, A.; Hentze, M.W.; Dandekar, T.; Muckenthaler, M., (2010), "The IronChip evaluation package: a package of perl modules for robust analysis of custom microarrays", BMC bioinformatics, vol. 11, ISSN: 1471-2105.
- Ramsay, A.J.; Quesada, V.; Sánchez, M.; Garabaya, C.; Sardà, M.P.; Baiget M; Remacha, A.; Velasco, G.; López-Otín C., (2009), "Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms", Human molecular genetics, vol. 18, No. 19, pp. 3673-3683, ISSN: 0964-6906.
- Percy, MJ.; Sánchez, M.; Swierczek, S.; Mcmullin, MF.; Mojica-Henshaw, MP.; Muckenthaler, M.; Prchal, JT.; Hentze, M.W., (2007), "Is congenital secondary erythrocytosis/polycythemia caused by activating mutations within the HIF-2α iron-responsive element? [10]", Blood, vol. 110, No. 7, pp. 2776-2777, ISSN: 0006-4971.
- Sánchez, M.; Galy, B.; Hentze, M.W.; Muckenthaler, M., (2007), "Identification of target mRNAs of regulatory RNA binding proteins using mRNP immunopurification and microarrays", Nature protocols (Print), vol. 2, No. 8, pp. 2033-2042, ISSN: 1754-2189.
- Sánchez, M.; Galy, B.; Muckenthaler, M.; Hentze, M.W., (2007), "Iron-regulatory proteins limit hypoxia-inducible factor-2α expression in iron deficiency", Nature structural and molecular biology, vol. 14, No. 5, pp. 420-426, ISSN: 1545-9993.
- Sánchez, M.; Galy, B.; Dandekar, T.; Bengert, P.; Vainshtein, Y.; Stolte, J.; Muckenthaler, M.; Hentze, M.W., (2006), "Iron regulation and the cell cycle - Identification of an iron-responsive element in the 3 '-untranslated region of human cell division cycle 14A mRNA by a refined microarray-based screening strategy", Journal of biological chemistry, vol. 281, No. 32, pp. 22865-22874, ISSN: 0021-9258.
- Oliva, R.; Novials, A.; Sánchez, M.; Villa, M.; Ingelmo, M.; Recasens, M.; Ascaso, C.; Bruguera, M.; Gomis, R., (2004), "The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2", Endocrine, vol. 24, No. 2, pp. 111-114, ISSN: 0969-711X.
- Roy, CN.; Custodio, AO.; de Graaf, J.; Schneider, S.; Akpan, I.; Montoss, LK.; Sánchez, M.; Gaudino, A.; Hentze, M.W.; Andrews, N.; Muckenthaler, M., (2004), "An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice", Nature genetics, vol. 36, No. 5, pp. 481-485, ISSN: 1061-4036.
- Sánchez, M.; Villa, M.; Ingelmo, M.; Sanz, C.; Bruguera, M.; Ascaso, C.; Oliva, R., (2003), "Population screening for hemochromatosis: a study in 5370 Spanish blood donors", Journal of hepatology, vol. 38, No. 6, pp. 745-750, ISSN: 0168-8278.
- Sánchez, M.; Bruguera, M.; Rodes, J.; Oliva, R., (2001), "Complete characterization of the 3′ region of the human and mouse hereditary hemochromatosis HFE gene and detection of novel splicing forms", Blood cells molecules and diseases, vol. 27, No. 1, pp. 35-43, ISSN: 1079-9796.
- Oliva, R.; Sánchez, M.; Bruguera, M.; Rodes, J., (2000), "Clinical usefulness of the detection of mutations of the HFE gene in hemochromatosis", Gastroenterologia y Hepatologia, vol. 23, No. 9, pp. 433-435, ISSN: 0210-5705.
- Sánchez, M.; Bruguera, M.; Quintero, E.; Barrio, Y.; Mazzara, R.; Rodes, J.; Oliva, R., (2000), "Hereditary Hemochromatosis in Spain", Genetic testing, vol. 4, No. 2, pp. 171-176, ISSN: 1090-6576.
- Sánchez, M.; Queralt, R.; Bruguera, M.; Rodes, J.; Oliva, R., (1998), "Cloning, sequencing and characterization of the rat HFE promoter. Comparison of the human, mouse and rat hemochromatosis HFE promoter regions", Gene, vol. 225, No. 1-2, pp. 77-87, ISSN: 0378-1119.
- Sánchez, M.; Bruguera, M.; Bosch, J.; Rodes, J.; Ballesta, F.; Oliva, R., (1998), "revalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls", Journal of hepatology, vol. 29, No. 5, pp. 725-728, ISSN: 0168-8278.
- Margarit, E.; Guillem, A.; Rebordosa, C.; Vidal-Taboada, J.; Sánchez, M.; Ballesta, F.; Oliva, R., (1998), "Identification of conserved potentially regulatory sequences of the SRY gene from different species of mammals", Biochemical and biophysical research communications, vol. 245, No. 2, pp. 370-377, ISSN: 0006-291X.
- Vidal-Taboada, J.; Bergoñon, S.; Sánchez, M.; López-Acedo, C.; Groet, J.; Nižetić, D.; Egeo, A.; Scartezzini, P.; Katsanis, N.; Fisher, E.; Delabar, J.M.; Oliva, R., (1998), "High resolution mapping and identification of transcribed sequences in the Down Syndrome region-2", Biochemical and biophysical research communications, vol. 243, No. 2, pp. 572-578, ISSN: 0006-291X.
Book chapters
- Anguita, E.; Sánchez, M., (02/10/2017), "Capítulo Anemias Sideroblásticas Congénitas.", Guía de Recomendaciones para el Diagnóstico Genético y Seguimiento de Neoplasias Hematológicas.
- Sánchez, M.; Blas-López, C., (02/10/2017), "Capítulo Hemocromatosis", Guía de recomendaciones para el diagnóstico genético y seguimiento de neoplasias.
- Sánchez, M.; Altés, A., (11/09/2017), "Capítulo 30 Hemocromatosis Hereditaria", Eritropatología, pp. 569-582. ISBN: 978-84-945945-4-0.
- Sánchez, M., (11/09/2017), "Capítulo 8 Anemias sideroblásticas congénitas.", Eritropatología. ISBN: 978-84-945945-4-0.
- Anguita, E.; Sánchez, M., (01/06/2016), "Capítulo 33. Anemias sideroblásticas congénitas", Manual Práctico de Genética Hematológica. ISBN: 9788460857570.
- Sánchez, M.; Renedo-Gancedo, M.; Oliva, R.; Blas-López, C., (01/06/2016), "Capítulo 36. Hemocromatosis", Manual Práctico de Genética Hematológica. ISBN: 9788460857570.
- Sánchez, M., (01/05/2016), "Tema 3. Trastornos del hierro en el organismo y métodos de estudio. Dentro del Módulo 4. Anemia y Poliglobulia.", Experto en bases del diagnóstico en Hematología, Editorial Medica Panamericana. ISBN: 9788491100317.
- Sánchez, M.; Vives-Corrons, J.L., (01/06/2014), "Capítulo 15: Métodos para el diagnóstico de la ferropenia y el exceso de hierro", Manual de técnicas de laboratorio en hematología, pp. 390-433, Elsevier Masson SAS. ISBN: 987-84-458-2147-3.
- Sánchez, M., (01/05/2014), "Hereditary non-sideroblastic Anemia and Inherited Iron disorders", ENERCA reccommendations for Centres of Expertise in rare anaemias: A White Book. ISBN: 978-84-939018-8-1.
- Oliva, R.; Vidal-Taboada, J.; Sánchez, M., (01/05/2013), "Capitulo 31. Práctica 6: bases de dades i d'anàlisi de seqüències a internet", Genética Médica, Publicacions i Edicions de la Universitat de Barcelona. ISBN: 978-84-475-3688-7.
- Joshi, R.; Morán, E.; Sánchez, M., (01/05/2012), "Cellular Iron Metabolism- the IRP/IRE regulatory network", Iron Metabolism, pp. 25-58, InTech — Open Access Company. ISBN: 978-953-51-0650-0.
- Vidal-Taboada, J.; Sánchez, M.; Oliva, R., (01/01/2004), "Capitol 29: Base de dades i d'anàlisis de seqüències a internet", Genètica Mèdica, Publicacions i Edicions de la Universitat de Barcelona. ISBN: 84-475-2809-X.
Projects and research
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AVANCES EN DIAGNOSTICO Y TERAPIA PARA ENFERMEDADES HEMATOLOGICAS HEREDITARIAS RARAS (ARETHA)01/01/2022 - 31/12/2025IP: Sánchez, M.
Ministerio de ciencia e innovación
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ARETHA: Advances in diagnostic and therapy for rare hereditary haematological diseases (ARETHA, Advances in Rare hErediTary Hematological diseAses)01/09/2022 - 31/08/2025IP: Sánchez, M.
Ministerio de Ciencia e Innovación (MICINN)
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NANOANEMIA-Nanobiosensor multiplexado para el diagnóstico instantáneo y clasificación de la anemia en el punto de atención01/12/2021 - 30/11/2024IP: Sánchez, M.; Tornador, C.; Merkoçi, A.
Ministerio de Ciencia e Innovación (MICINN)
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Nanobiosensor multiplexado para el diagnóstico instantáneo y clasificación de la anemia en el punto de atención (NANOANAEMIA)01/01/2021 - 31/12/2023IP: Sánchez, M.; Merkoçi, A.; Tornador, C.
Ministerio de ciencia e innovación
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RETOS COLABORACION-Nuevas aproximaciones para el diagnóstico y tratamiento de la anemia diseritropoyética congénita: Secuenciación masiva y terapia génica01/01/2020 - 31/12/2023IP: Sánchez, M.; Tornador, C.; Segovia, J.; Ramirez, J.C.
MINISTERIO DE CIENCIA E INNOVACION
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EU project 894737-Advances in the Diagnosis and Gene Therapy of Congenital dyserythropoietic Anemia16/03/2021 - 15/05/2023IP: Sánchez, M.
European Union
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NEOTEC-CDTI-Mejoras en el diagnóstico y desarrollo de herramientas moleculares para terapia génica en Anemia diseritropoyética congénita (ADC)01/01/2020 - 31/12/2021IP: Sánchez, M.; Tornador, C.; Segovia, J.
CDTI; Ministerio de Ciencia e Innovación (MICINN)
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Advances in new molecular pathways and novel diseases in iron homeostasis (A-IRON, Advances in IRON physiopatology)01/01/2019 - 31/12/2021IP: Sánchez, M.
Ministerio de ciencia e innovación
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Advances in new molecular pathways and novel diseases in iron homeostasis (A-IRON)01/01/2019 - 31/12/2021IP: Sánchez, M.
Ministerio de Ciencia, Innovación y Universidades
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Towards the improvement of diagnosis and treatment in Congenital Dyserythropoyetic Anaemias02/03/2017 - 01/03/2020IP: Sánchez, M.
Fundación Ramón Areces
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Convenio APU-ADISCON-UIC01/12/2018 - 30/11/2023IP: Sánchez, M.
Fundación Pablo Ugarte
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Convenio APU-ADISCON-IJC03/08/2015 - 30/11/2018IP: Sánchez, M.
Fundación Pablo Ugarte
Activities
- Annual Congress of the European Hematology Association Presentació de comunicació "Identification of a novel gene causing an autosomal recessive form of congenital dyserythropoietic Anemia", 2021.
- American Society of Hematology (ASH) Meeting Presentació de comunicació "Modelling Congenital Dyserythropoietic Anemia Type II through Gene Editing in Hematopoietic Stem and Progenitor Cells", 2020.
- Annual Congress of the European Hematology Association Presentació de poster "Poster Presentation EP1583: A mutation in the Iron.Responsive element of ALAS2 is a modifier of severity in erythropoietic protoporphyria.", 2020.
- Annual Congress of the European Hematology Association Presentació de poster "Poster Presentation EP1585: A mutation in the SLC11A2 gene reveals the eighth case of severe hypochromic microcytic anemia.", 2020.
- BIOIRON organizing scientific committee Vocal, 2019.
- EHA-SWG Scientific Meeting on Red Cell and Iron Metabolism: from basic science to clinical case application. Ponència "Selected talk: Atransferrinemia cases: an ulta-rare microcytic anaemia with iron overload.", 2019.
- Congress of the International BIOIRON Society Presentació de poster "Poster Presentation n357: CoDysAn: A telemedicine tool to improve awareness and diagnosis for patients with Congenital Dyserythropoietic Anemia. Venturi V, Sánchez-Prados E, Cadenas Sevilla B, Russo R, Andolfo I, Hernández-Rodriguez I, Tornador C, Iolascon A, Sánchez,", 2019.
- Congress of the International BIOIRON Society Presentació de poster "Poster Presentation n166: L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia—Report of New Cases. F Celma, B Cadenas, J Fita-Torró, M Bermúdez-Cortés, I Hernandez-Rodriguez, JL Fuster, ME Llinares, AM Galera, J Lee Romero, S Pérez-Montero, C Tornador and M Sanchez.", 2019.
- Jornada de Bioinformàtica i Genòmica Presentació de poster "Poster 5: BEA: a web tool for BioMark gene expression analysis.", 2018.
- Congreso Nacional de la Sociedad Española de Hematología y Hemoterapia Ponència "Oral presentation CO-145: Mutación en el gen SLC11A2 revela el octavo caso de Anemia severa microcítica hipocrómica", 2018.