Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Santiago Pérez-Montero"'
P1475: MUTATIONS IN THE GAP DOMAIN OF RACGAP1 CAUSE DEVELOPMENTAL AND ERYTHROID DEFECTS IN ZEBRAFISH
Autor:
Lídia Romero-Cortadellas, Aitor Bañón, Gonzalo Hernández, Santiago Pérez-Montero, Cristian Tornador, Berta Alsina, Mayka Sanchez
Publikováno v:
HemaSphere, Vol 7, p e01629bb (2023)
Externí odkaz:
https://doaj.org/article/3972eb8e494d433f81693b886645cdc7
Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III
Autor:
Gonzalo Hernández, Lídia Romero-Cortadellas, Xènia Ferrer-Cortès, Veronica Venturi, Mercedes Dessy-Rodriguez, Mireia Olivella, Ammar Husami, Concepción Pérez de Soto, Rosario M. Morales-Camacho, Ana Villegas, Fernando-Ataulfo González-Fernández, Marta Morado, Theodosia A. Kalfa, Oscar Quintana-Bustamante, Santiago Pérez-Montero, Cristian Tornador, Jose-Carlos Segovia, Mayka Sánchez
Publikováno v:
Haematologica, Vol 108, Iss 2 (2022)
Externí odkaz:
https://doaj.org/article/7989be4849fa4036b9d6ff2711b088ea
Autor:
Melina Mara Musri, Veronica Venturi, Xènia Ferrer-Cortès, Lídia Romero-Cortadellas, Gonzalo Hernández, Pilar Leoz, María Pilar Ricard Andrés, Marta Morado, María del Carmen Fernández Valle, David Beneitez Pastor, Ana Ortuño Cabrero, Maite Moreno Gamiz, Leonor Senent Peris, Amanda Isabel Perez-Valencia, Santiago Pérez-Montero, Cristian Tornador, Mayka Sánchez
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 12, p 9935 (2023)
Congenital dyserythropoietic anemia type II (CDA II) is an inherited autosomal recessive blood disorder which belongs to the wide group of ineffective erythropoiesis conditions. It is characterized by mild to severe normocytic anemia, jaundice, and s
Externí odkaz:
https://doaj.org/article/f544ba52d5e34f1fadc2230634bf24b6
Autor:
Lídia Romero-Cortadellas, Gonzalo Hernández, Xènia Ferrer-Cortès, Laura Zalba-Jadraque, José Luis Fuster, Mar Bermúdez-Cortés, Ana María Galera-Miñarro, Santiago Pérez-Montero, Cristian Tornador, Mayka Sánchez
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 8, p 4406 (2022)
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 iron uptake in the intestine and kidneys and by recovering iron from recycling endosomes afte
Externí odkaz:
https://doaj.org/article/6607076eda8e4a17a7e4de5ac1184d12
Autor:
Gonzalo Hernández, Xenia Ferrer-Cortès, Veronica Venturi, Melina Musri, Martin Floor Pilquil, Pau Marc Muñoz Torres, Ines Hernandez Rodríguez, Maria Àngels Ruiz Mínguez, Nicholas J. Kelleher, Sara Pelucchi, Alberto Piperno, Esther Plensa Alberca, Georgina Gener Ricós, Eloi Cañamero Giró, Santiago Pérez-Montero, Cristian Tornador, Jordi Villà-Freixa, Mayka Sánchez
Publikováno v:
Genes, Vol 12, Iss 12, p 1980 (2021)
Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal organs such as liver, heart, pancreas, and joints. It is caused by mutations in at least five different genes. HFE hemo
Externí odkaz:
https://doaj.org/article/ac37505b92aa4ff79167c158c5c0896e
Autor:
Ferran Celma Nos, Gonzalo Hernández, Xènia Ferrer-Cortès, Ines Hernandez-Rodriguez, Begoña Navarro-Almenzar, José Luis Fuster, Mar Bermúdez Cortés, Santiago Pérez-Montero, Cristian Tornador, Mayka Sanchez
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 11, p 5451 (2021)
Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. This disorder is produced by mutations in the iron responsiv
Externí odkaz:
https://doaj.org/article/c6c64e2c3b3d4d4fabe1a6a125f68892
Autor:
Beatriz Cadenas, Josep Fita-Torró, Mar Bermúdez-Cortés, Inés Hernandez-Rodriguez, José Luis Fuster, María Esther Llinares, Ana María Galera, Julia Lee Romero, Santiago Pérez-Montero, Cristian Tornador, Mayka Sanchez
Publikováno v:
Pharmaceuticals, Vol 12, Iss 1, p 17 (2019)
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 mutations have been reported in the L-ferritin subunit gene (FTL gene) that cause the following f
Externí odkaz:
https://doaj.org/article/00d973509ba34effb8c1e2b7d6ec3be6
Autor:
Sánchez, Melina Mara Musri, Veronica Venturi, Xènia Ferrer-Cortès, Lídia Romero-Cortadellas, Gonzalo Hernández, Pilar Leoz, María Pilar Ricard Andrés, Marta Morado, María del Carmen Fernández Valle, David Beneitez Pastor, Ana Ortuño Cabrero, Maite Moreno Gamiz, Leonor Senent Peris, Amanda Isabel Perez-Valencia, Santiago Pérez-Montero, Cristian Tornador, Mayka
Publikováno v:
International Journal of Molecular Sciences; Volume 24; Issue 12; Pages: 9935
Congenital dyserythropoietic anemia type II (CDA II) is an inherited autosomal recessive blood disorder which belongs to the wide group of ineffective erythropoiesis conditions. It is characterized by mild to severe normocytic anemia, jaundice, and s
Autor:
Gonzalo, Hernández, Lídia, Romero-Cortadellas, Xènia, Ferrer-Cortès, Veronica, Venturi, Mercedes, Dessy-Rodriguez, Mireia, Olivella, Ammar, Husami, Concepción Pérez, De Soto, Rosario M, Morales-Camacho, Ana, Villegas, Fernando-Ataulfo, González-Fernández, Marta, Morado, Theodosia A, Kalfa, Oscar, Quintana-Bustamante, Santiago, Pérez-Montero, Cristian, Tornador, Jose-Carlos, Segovia, Mayka, Sánchez
Publikováno v:
Haematologica.
Not available.
Autor:
José Luis Fuster, Ferran Celma Nos, Begoña Navarro-Almenzar, Ines Hernandez-Rodriguez, Xènia Ferrer-Cortès, Gonzalo Hernández, Mar Bermúdez Cortés, Santiago Pérez-Montero, Mayka Sanchez, Cristian Tornador
Publikováno v:
International Journal of Molecular Sciences
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
International Journal of Molecular Sciences, Vol 22, Iss 5451, p 5451 (2021)
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
International Journal of Molecular Sciences, Vol 22, Iss 5451, p 5451 (2021)
Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. This disorder is produced by mutations in the iron responsiv