Search Results - "Sánchez, Mayka"

New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation by Romero-Cortadellas, Lídia, Hernández, Gonzalo, Ferrer-Cortès, Xènia, Zalba-Jadraque, Laura, Fuster, José Luis, Bermúdez-Cortés, Mar, Galera-Miñarro, Ana María, Pérez-Montero, Santiago, Tornador, Cristian, Sánchez, Mayka

“…Divalent metal-iron transporter 1 (DMT1) is a mammalian iron transporter encoded by the SLC11A2 gene. DMT1 has a vital role in iron homeostasis by mediating…”
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Haemochromatosis patients' research priorities: Towards an improved quality of life by Romero-Cortadellas, Lídia, Venturi, Veronica, Martín-Sánchez, Juan Carlos, Toska, Ketil, Prince, Dianne, Butzeck, Barbara, Porto, Graça, Milman, Nils Thorm, Committee, Hi/Efaph Survey, Sánchez, Mayka

“…Chronic diseases are associated with a range of functional and psychosocial consequences that can adversely affect patients' quality of life (QoL)…”
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Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III by Hernández, Gonzalo, Romero-Cortadellas, Lídia, Ferrer-Cortès, Xènia, Venturi, Veronica, Dessy-Rodriguez, Mercedes, Olivella, Mireia, Husami, Ammar, De Soto, Concepción Pérez, Morales-Camacho, Rosario M, Villegas, Ana, González-Fernández, Fernando-Ataulfo, Morado, Marta, Kalfa, Theodosia A, Quintana-Bustamante, Oscar, Pérez-Montero, Santiago, Tornador, Cristian, Segovia, Jose-Carlos, Sánchez, Mayka

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New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II by Musri, Melina Mara, Venturi, Veronica, Ferrer-Cortès, Xènia, Romero-Cortadellas, Lídia, Hernández, Gonzalo, Leoz, Pilar, Ricard Andrés, María Pilar, Morado, Marta, Fernández Valle, María Del Carmen, Beneitez Pastor, David, Ortuño Cabrero, Ana, Moreno Gamiz, Maite, Senent Peris, Leonor, Perez-Valencia, Amanda Isabel, Pérez-Montero, Santiago, Tornador, Cristian, Sánchez, Mayka

“…Congenital dyserythropoietic anemia type II (CDA II) is an inherited autosomal recessive blood disorder which belongs to the wide group of ineffective…”
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CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia by Tornador, Cristian, Sánchez-Prados, Edgar, Cadenas, Beatriz, Russo, Roberta, Venturi, Veronica, Andolfo, Immacolata, Hernández-Rodriguez, Ines, Iolascon, Achille, Sánchez, Mayka

“…Congenital Dyserythropoietic Anemia (CDA) is a heterogeneous group of hematological disorders characterized by chronic hyporegenerative anemia and distinct…”
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Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome by Luscieti, Sara, Tolle, Gabriele, Aranda, Jessica, Campos, Carmen Benet, Risse, Frank, Morán, Érica, Muckenthaler, Martina U, Sánchez, Mayka

“…Hereditary Hyperferritinaemia Cataract Syndrome (HHCS) is a rare autosomal dominant disease characterized by increased serum ferritin levels and early onset of…”
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New Mutations in HFE2 and TFR2 Genes Causing Non HFE -Related Hereditary Hemochromatosis by Hernández, Gonzalo, Ferrer-Cortès, Xenia, Venturi, Veronica, Musri, Melina, Pilquil, Martin Floor, Torres, Pau Marc Muñoz, Rodríguez, Ines Hernandez, Mínguez, Maria Àngels Ruiz, Kelleher, Nicholas J, Pelucchi, Sara, Piperno, Alberto, Alberca, Esther Plensa, Ricós, Georgina Gener, Giró, Eloi Cañamero, Pérez-Montero, Santiago, Tornador, Cristian, Villà-Freixa, Jordi, Sánchez, Mayka

“…Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal organs such as liver, heart,…”
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Functional consequences of transferrin receptor‐2 mutations causing hereditary hemochromatosis type 3 by Joshi, Ricky, Shvartsman, Maya, Morán, Erica, Lois, Sergi, Aranda, Jessica, Barqué, Anna, Cruz, Xavier, Bruguera, Miquel, Vagace, José Manuel, Gervasini, Guillermo, Sanz, Cristina, Sánchez, Mayka

“…Hereditary hemochromatosis (HH) type 3 is an autosomal recessive disorder of iron metabolism characterized by excessive iron deposition in the liver and caused…”
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Iron refractory iron deficiency anemia by De Falco, Luigia, Sanchez, Mayka, Silvestri, Laura, Kannengiesser, Caroline, Muckenthaler, Martina U, Iolascon, Achille, Gouya, Laurent, Camaschella, Clara, Beaumont, Carole

“…Iron refractory iron deficiency anemia is a hereditary recessive anemia due to a defect in the TMPRSS6 gene encoding Matriptase-2. This protein is a…”
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A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria by Ducamp, Sarah, Luscieti, Sara, Ferrer-Cortès, Xènia, Nicolas, Gaël, Manceau, Hana, Peoc'h, Katell, Yien, Yvette Y, Kannengiesser, Caroline, Gouya, Laurent, Puy, Herve, Sanchez, Mayka

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S289: PPP1R1B BINDS IRON REGULATORY PROTEINS AND MODULATES IRON CELLULAR CONTENT by Calvo López, Laura, Hernández, Gonzalo, Celma Nos, Ferran, Sanchez, Mayka

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Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis by Vila Cuenca, Marc, Marchi, Giacomo, Barqué, Anna, Esteban-Jurado, Clara, Marchetto, Alessandro, Giorgetti, Alejandro, Chelban, Viorica, Houlden, Henry, Wood, Nicholas W, Piubelli, Chiara, Dorigatti Borges, Marina, Martins de Albuquerque, Dulcinéia, Yotsumoto Fertrin, Kleber, Jové-Buxeda, Ester, Sanchez-Delgado, Jordi, Baena-Díez, Neus, Burnyte, Birute, Utkus, Algirdas, Busti, Fabiana, Kaubrys, Gintaras, Suku, Eda, Kowalczyk, Kamil, Karaszewski, Bartosz, Porter, John B, Pollard, Sally, Eleftheriou, Perla, Bignell, Patricia, Girelli, Domenico, Sanchez, Mayka

“…Aceruloplasminemia is a rare autosomal recessive genetic disease characterized by mild microcytic anemia, diabetes, retinopathy, liver disease, and progressive…”
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Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases by Celma Nos, Ferran, Hernández, Gonzalo, Ferrer-Cortès, Xènia, Hernandez-Rodriguez, Ines, Navarro-Almenzar, Begoña, Fuster, José Luis, Bermúdez Cortés, Mar, Pérez-Montero, Santiago, Tornador, Cristian, Sanchez, Mayka

“…Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the…”
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The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2 by Riley, Lisa G, Heeney, Matthew M, Rudinger-Thirion, Joëlle, Frugier, Magali, Campagna, Dean R, Zhou, Ronghao, Hale, Gregory A, Hilliard, Lee M, Kaplan, Joel A, Kwiatkowski, Janet L, Sieff, Colin A, Steensma, David P, Rennings, Alexander J, Simons, Annet, Schaap, Nicolaas, Roodenburg, Richard J, Kleefstra, Tjitske, Arenillas, Leonor, Fita-Torró, Josep, Ahmed, Rasha, Abboud, Miguel, Bechara, Elie, Farah, Roula, Tamminga, Rienk Yj, Bottomley, Sylvia S, Sanchez, Mayka, Swinkels, Dorine W, Christodoulou, John, Fleming, Mark D

“…YARS2 variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2). YARS2 encodes the mitochondrial…”
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P1475: MUTATIONS IN THE GAP DOMAIN OF RACGAP1 CAUSE DEVELOPMENTAL AND ERYTHROID DEFECTS IN ZEBRAFISH by Romero‐Cortadellas, Lídia, Bañón, Aitor, Hernández, Gonzalo, Pérez‐Montero, Santiago, Tornador, Cristian, Alsina, Berta, Sanchez, Mayka

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P1496: TRANSFERRIN NON‐CODING VARIANTS CAUSE MRNA DESTABILISATION IN CONGENITAL HYPOTRANSFERRINEMIA by Ferrer, Xenia, Romero‐Cortadellas, Lídia, Diaz‐de‐Heredia, Cristina, Moser, Katja, Budde, Ilona Kleine, Sanchez, Mayka

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L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases by Cadenas, Beatriz, Fita-Torró, Josep, Bermúdez-Cortés, Mar, Hernandez-Rodriguez, Inés, Fuster, José Luis, Llinares, María Esther, Galera, Ana María, Romero, Julia Lee, Pérez-Montero, Santiago, Tornador, Cristian, Sanchez, Mayka

“…Ferritin is a multimeric protein composed of light (L-ferritin) and heavy (H-ferritin) subunits that binds and stores iron inside the cell. A variety of…”
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Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia by Iolascon, Achille, Andolfo, Immacolata, Russo, Roberta, Sanchez, Mayka, Busti, Fabiana, Swinkels, Dorine, Aguilar Martinez, Patricia, Bou‐Fakhredin, Rayan, Muckenthaler, Martina U., Unal, Sule, Porto, Graça, Ganz, Tomas, Kattamis, Antonis, De Franceschi, Lucia, Cappellini, Maria Domenica, Munro, Malcolm G., Taher, Ali

“…Iron is an essential nutrient and a constituent of ferroproteins and enzymes crucial for human life. Generally, nonmenstruating individuals preserve iron very…”
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The Use of Next‐generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper by Roy, Noémi B. A., Da Costa, Lydie, Russo, Roberta, Bianchi, Paola, Mar Mañú‐Pereira, Maria, Fermo, Elisa, Andolfo, Immacolata, Clark, Barnaby, Proven, Melanie, Sanchez, Mayka, Wijk, Richard, Zwaag, Bert, Layton, Mark, Rees, David, Iolascon, Achille

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Control of Systemic Iron Homeostasis by the 3’ Iron‐Responsive Element of Divalent Metal Transporter 1 in Mice by Tybl, Elisabeth, Gunshin, Hiromi, Gupta, Sanjay, Barrientos, Tomasa, Bonadonna, Michael, Celma Nos, Ferran, Palais, Gael, Karim, Zoubida, Sanchez, Mayka, Andrews, Nancy C., Galy, Bruno

“…Supplemental Digital Content is available in the text…”
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