C282Y and H63D mutations of HFE gene in patients with advanced alcoholic liver disease

Autor: Ropero Gradilla P, Villegas Martínez A, Fernández Arquero M, Ja, García-Agúndez, Fa, González Fernández, Benítez Rodríguez J, Díaz-Rubio M, Eg, La Concha, Jm, Ladero Quesada

Publikováno v: Europe PubMed Central

To test the hypothesis that the heterozygous state for HFE gene mutations involved in the pathogenesis of hemochromatosis, that may induce an increase of hepatic iron content, may aggravate the liver damage induced by prolonged and excessive use of e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::377599dc2b60a32c5fa70a228f1c716a
https://pubmed.ncbi.nlm.nih.gov/11469076

Two new mutations in the GLRX5 gene cause sideroblastic anemia.

Autor: Melo Arias AF; Department of Hematology and Hemotherapy, Hospital Clínico San Carlos, IdiSSC, Madrid, Spain., Escribano Serrat S; Department of Hematology and Hemotherapy, Hospital Clínico San Carlos, IdiSSC, Madrid, Spain. Electronic address: sescribanos@salud.madrid.org., Martínez Nieto J; Department of Hematology and Hemotherapy, Hospital Clínico San Carlos, IdiSSC, Madrid, Spain., Medina Salazar F; Department of Hematology and Hemotherapy, Hospital Clínico San Carlos, IdiSSC, Madrid, Spain., Ropero Gradilla P; Department of Hematology and Hemotherapy, Hospital Clínico San Carlos, IdiSSC, Madrid, Spain., Benavente Cuesta C; Department of Hematology and Hemotherapy, Hospital Clínico San Carlos, IdiSSC, Madrid, Spain., González Fernández FA; Department of Hematology and Hemotherapy, Hospital Clínico San Carlos, IdiSSC, Madrid, Spain.

Publikováno v: Blood cells, molecules & diseases [Blood Cells Mol Dis] 2023 Sep; Vol. 102, pp. 102763. Date of Electronic Publication: 2023 Jun 02.

Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III.

Autor: Hernández G; Department of Basic Sciences, Iron metabolism: Regulation and Diseases Group. Universitat Internacional de Catalunya (UIC). Sant Cugat del Vallès, 08195, Spain; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat, 08950., Romero-Cortadellas L; Department of Basic Sciences, Iron metabolism: Regulation and Diseases Group. Universitat Internacional de Catalunya (UIC). Sant Cugat del Vallès, 08195., Ferrer-Cortès X; Department of Basic Sciences, Iron metabolism: Regulation and Diseases Group. Universitat Internacional de Catalunya (UIC). Sant Cugat del Vallès, 08195, Spain; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat, 08950., Venturi V; Department of Basic Sciences, Iron metabolism: Regulation and Diseases Group. Universitat Internacional de Catalunya (UIC). Sant Cugat del Vallès, 08195., Dessy-Rodriguez M; Cell Technology Division. Biomedical Innovative Unit. Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, 28040, Spain; Unidad Mixta de Terapias Avanzadas. Instituto de Investigación Sanitaria Fundación Jiménez. Madrid, 28040., Olivella M; Biosciences Department, Faculty of Sciences and Technology (FCT), Universitat de Vic - Universitat Central de Catalunya (UVic-UCC). Vic, 08500., Husami A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267., De Soto CP; Service of Pediatric Hematology, Hospital Universitario Virgen del Rocío, UGC HH. HHUUVR. Sevilla, 41013., Morales-Camacho RM; Department of Hematology, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla (IBIS/CISC/CIBERONC). Universidad de Sevilla, Sevilla, 41013., Villegas A; Service of Hematology, Hospital Clínico San Carlos. Universidad Complutense, Madrid, 28040., González-Fernández FA; Service of Hematology, Hospital Clínico San Carlos. Universidad Complutense, Madrid, 28040., Morado M; Service of Hematology, Hospital La Paz, Madrid, 28046., Kalfa TA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA; Division of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229., Quintana-Bustamante O; Cell Technology Division. Biomedical Innovative Unit. Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, 28040, Spain; Unidad Mixta de Terapias Avanzadas. Instituto de Investigación Sanitaria Fundación Jiménez. Madrid, 28040., Pérez-Montero S; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat, 08950., Tornador C; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat, 08950., Segovia JC; Cell Technology Division. Biomedical Innovative Unit. Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, 28040, Spain; Unidad Mixta de Terapias Avanzadas. Instituto de Investigación Sanitaria Fundación Jiménez. Madrid, 28040., Sánchez M; Department of Basic Sciences, Iron metabolism: Regulation and Diseases Group. Universitat Internacional de Catalunya (UIC). Sant Cugat del Vallès, 08195, Spain; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat, 08950. msanchezfe@uic.es.

Publikováno v: Haematologica [Haematologica] 2023 Feb 01; Vol. 108 (2), pp. 581-587. Date of Electronic Publication: 2023 Feb 01.

Does size matter? Two new deletions in the HBB gene cause β ⁰ -thalassemia.

Autor: Ropero P; Hematology Service, Hospital Clínico San Carlos, C/Profesor Martín Lagos s/n, 28040, Madrid, Spain. paloma.ropero@salud.madrid.org.; Instituto de Investigación Sanitaria Hospital Clínico San Carlos, Madrid, Spain. paloma.ropero@salud.madrid.org., González Fernández FA; Hematology Service, Hospital Clínico San Carlos, C/Profesor Martín Lagos s/n, 28040, Madrid, Spain., Nieto JM; Hematology Service, Hospital Clínico San Carlos, C/Profesor Martín Lagos s/n, 28040, Madrid, Spain.; Instituto de Investigación Sanitaria Hospital Clínico San Carlos, Madrid, Spain., Recasens V; Hematology Service, Hospital Universitario Miguel Servet, Zaragoza, Spain., Montañés Á; Hematology Service, Hospital Universitario Miguel Servet, Zaragoza, Spain., Murúzabal MJ; Hematology Service, Hospital Universitario Marqués de Valdecilla, Santander, Cantabria, Spain., Sarasa M; Hematology Service, Hospital Comarcal de Laredo, Laredo, Cantabria, Spain., Fernández C; Hematology Service, Hospital Comarcal de Laredo, Laredo, Cantabria, Spain., Villegas A; Hematology Service, Hospital Clínico San Carlos, C/Profesor Martín Lagos s/n, 28040, Madrid, Spain., Benavente CC; Hematology Service, Hospital Clínico San Carlos, C/Profesor Martín Lagos s/n, 28040, Madrid, Spain.

Publikováno v: Annals of hematology [Ann Hematol] 2022 Jul; Vol. 101 (7), pp. 1465-1471. Date of Electronic Publication: 2022 Apr 25.

Next generation sequencing for diagnosis of hereditary anemia: Experience in a Spanish reference center.

Autor: Nieto JM; Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC); Hospital San Carlos, Madrid, Spain. Electronic address: jorgemartineznieto@gmail.com., Rochas-López S; Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC); Hospital San Carlos, Madrid, Spain., González-Fernández FA; Hospital San Carlos, Madrid, Spain., Villegas-Martínez A; Hospital San Carlos, Madrid, Spain., Bolaños-Calderón E; Hospital San Carlos, Madrid, Spain., Salido-Fiérrez E; Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain., Cela E; Hospital Materno-Infantil Gregorio Marañón, Madrid, Spain., Huerta-Aragoneses J; Hospital Materno-Infantil Gregorio Marañón, Madrid, Spain., Ordoñez-García M; Hospital Universitario de Móstoles, Madrid, Spain., Muruzábal-Sitges MJ; Hospital Universitario Marqués de Valdecilla, Santander, Spain., Abio-Calvete M; Hospital Virgen de la Salud, Toledo, Spain., Sevilla Navarro J; Hospital Infantil Universitario Niño Jesús, Madrid, Spain., de la Iglesia S; Hospital Universitario de Gran Canaria Doctor Negrín, Las Palmas de Gran Canaria, Spain., Morado M; Hospital Universitario La Paz, Madrid, Spain., San Román-Pacheco S; Hospital Universitario La Paz, Madrid, Spain., Martín-Mateos ML; Hospital Clínico Universitario de Salamanca, Salamanca, Spain., Recasens-Flores MV; Hospital Universitario Miguel Servet, Zaragoza, Spain., Benavente-Cuesta C; Hospital San Carlos, Madrid, Spain., Ropero-Gradilla P; Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC); Hospital San Carlos, Madrid, Spain., Members Of The Erithropatology Working Group; Sociedad de Hematología y Hemoterapia, Madrid, Spain.

Publikováno v: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2022 Jun 01; Vol. 531, pp. 112-119. Date of Electronic Publication: 2022 Mar 26.