Výsledky vyhledávání

Akademický článek

Incidence and prognostic impact of U2AF1 mutations and other gene alterations in myelodysplastic neoplasms with isolated 20q deletion.

Autor: Castillo MI; Servicio de Hematología, Hospital Clínico Universitario de Valencia, Instituto de Investigación Sanitaria INCLIVA, Valencia, Spain., Ribate VE; Servicio de Hematología, Hospital Clínico Universitario de Valencia, Instituto de Investigación Sanitaria INCLIVA, Valencia, Spain., Muñoz CM; Servicio de Hematología, Hospital Clínico Universitario de Valencia, Instituto de Investigación Sanitaria INCLIVA, Valencia, Spain., Santillana SG; Servicio de Hematología, Hospital Universitario y Politécnico La Fe, Instituto de Investigación Sanitaria La Fe, CIBERONC - ISCIII, Valencia, Spain., Taboada SE; Servicio de Hematología, Hospital Universitario y Politécnico La Fe, Instituto de Investigación Sanitaria La Fe, CIBERONC - ISCIII, Valencia, Spain., Casterá ME; Servicio de Hematología, Hospital Universitario y Politécnico La Fe, Instituto de Investigación Sanitaria La Fe, CIBERONC - ISCIII, Valencia, Spain., Abinzano CMJ; CIMA LAB Diagnostics, Universidad de Navarra, CIBERONC - ISCIII, Pamplona, Spain., Barranco IA; CIMA LAB Diagnostics, Universidad de Navarra, CIBERONC - ISCIII, Pamplona, Spain., Nieto CR; Servicio de Hematología, Consorcio Hospital General Universitario de Valencia, Valencia, Spain., Pampliega VM; Servicio de Hematología y Hemoterapia del Hospital Universitario de Cruces, Barakaldo, Spain., Blanco ML; Servicio de Hematología, Hospital de la Santa Creu i Sant Pau, Valencia, Spain., de Andrés ÁS; NIMGenetics, Genómica y Medicina, Madrid, Spain., de Oteyza PJ; Servicio de Hematología, Hospital Universitario HM Madrid, Madrid, Spain., Del Castillo BT; Servicio de Hematología, Hospital Universidad de Asturias, IISPA, IUOPA, Valencia, Spain., Font GI; Servicio de Hematología, Hospital Germans Trias i Pujol, Institut Català d'Oncologia, Institut de Recerca contra la Leucèmia Josep Carreras, Universidad Autónoma de Barcelona, CIBERONC - ISCIII, Bellaterra, Spain., Cayuela JA; Servicio de Hematología, Hospital Universitario Morales Meseguer, Murcia, Spain., Díez-Campelo M; Servicio de Hematología, Hospital Universitario de Salamanca, CIBERONC - ISCIII, Salamanca, Spain., Sánchez AR; Departamento de Bioquímica y Patología Molecular, Hospital Clínico Universitario de Valencia, Instituto de Investigación Sanitaria INCLIVA, Valencia, Spain., Vercet SC; Servicio de Hematología, Hospital Clínico Universitario de Valencia, Instituto de Investigación Sanitaria INCLIVA, Valencia, Spain., Díaz TM; Servicio de Hematología, Hospital Clínico Universitario de Valencia, Instituto de Investigación Sanitaria INCLIVA, Valencia, Spain.

Publikováno v: Cancer medicine [Cancer Med] 2023 Aug; Vol. 12 (16), pp. 16788-16792. Date of Electronic Publication: 2023 Jul 05.

Zobrazit plný text záznamu

Plný text ve formátu HTML

Akademický článek

β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity.

Autor: Dobritzsch D; Uppsala University, Department of Chemistry-BMC, Biomedical Center, Uppsala, Sweden., Meijer J; Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Cancer Center Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam, the Netherlands., Meinsma R; Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Cancer Center Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam, the Netherlands., Maurer D; Cytiva, Uppsala, Sweden., Monavari AA; National Centre for Inherited Metabolic Disorders, Children's Health Ireland at Temple Street, Temple Street, Dublin, Ireland., Gummesson A; Sahlgrenska University Hospital, Department of Clinical Genetics and Genomics, Gothenburg, Sweden., Reims A; Queen Silvia Children's Hospital, Gothenburg, Sweden., Cayuela JA; Sahlgrenska University Hospital, Department of Clinical Genetics and Genomics, Gothenburg, Sweden., Kuklina N; Drammen Hospital, Pediatric Department/Habilitation Center, Vestre Viken HF, Drammen, Norway., Benoist JF; Hôpital Universitaire Robert Debré, Service de Biochimie Hormonologie, Paris, France., Perrin L; Hôpital Universitaire Robert Debré, Service de Biochimie Hormonologie, Paris, France., Assmann B; University Children's Hospital, University of Heidelberg, Heidelberg, Germany., Hoffmann GF; University Children's Hospital, University of Heidelberg, Heidelberg, Germany., Bierau J; Maastricht University Medical Centre, Department of Clinical Genetics, Maastricht, the Netherlands; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, the Netherlands., Kaindl AM; Charité - Universitätsmedizin Berlin, Department of Pediatric Neurology, Center for Chronically Sick Children, Institute for Cell and Neurobiology, Berlin, Germany., van Kuilenburg ABP; Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Cancer Center Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam, the Netherlands. Electronic address: a.b.vanKuilenburg@amsterdamumc.nl.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2022 Jul; Vol. 136 (3), pp. 177-185. Date of Electronic Publication: 2022 Feb 01.

Zobrazit plný text záznamu

Akademický článek

Prevention of type 2 diabetes in prediabetic patients by using functional olive oil enriched in oleanolic acid: The PREDIABOLE study, a randomized controlled trial.

Autor: Santos-Lozano JM; CIBER Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain.; Department of Family Medicine, Primary Health District Seville, Seville, Spain.; Department of Medicine, Faculty of Medicine, University of Seville, Seville, Spain., Rada M; Department of Food and Health, Instituto de la Grasa, Spanish National Research Council (CSIC), Seville, Spain., Lapetra J; CIBER Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain.; Andalusian Public Foundation for the Management of Health Research in Seville (FISEVI), Seville, Spain., Guinda Á; Department of Food and Health, Instituto de la Grasa, Spanish National Research Council (CSIC), Seville, Spain., Jiménez-Rodríguez MC; CIBER Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain., Cayuela JA; Department of Food and Health, Instituto de la Grasa, Spanish National Research Council (CSIC), Seville, Spain., Ángel-Lugo A; CIBER Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain., Vilches-Arenas Á; Department of Preventive Medicine and Public Health, Faculty of Medicine, University of Seville, Seville, Spain., Gómez-Martín AM; Department of Family Medicine, Primary Health District Seville, Seville, Spain., Ortega-Calvo M; CIBER Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain., Castellano JM; Department of Food and Health, Instituto de la Grasa, Spanish National Research Council (CSIC), Seville, Spain.

Publikováno v: Diabetes, obesity & metabolism [Diabetes Obes Metab] 2019 Nov; Vol. 21 (11), pp. 2526-2534. Date of Electronic Publication: 2019 Aug 28.

Zobrazit plný text záznamu

Akademický článek

Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.

Autor: Grønborg S; Center for Rare Diseases, Department of Clinical Genetics, Juliane Marie Center, University Hospital Copenhagen, Copenhagen, Denmark., Darin N; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, The Queen Silvia Children's Hospital, Gothenburg, Sweden., Miranda MJ; Department of Pediatrics, Pediatric Neurology, Herlev University Hospital, Copenhagen University, Herlev, Denmark., Damgaard B; Department of Diagnostic Imaging, Nordsjællands Hospital, Hillerød, Denmark., Cayuela JA; Department of Clinical Chemistry, Sahlgrenska Academy, Sahlgrenska University Hospital, Gothenburg, Sweden., Oldfors A; Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden., Kollberg G; Department of Clinical Chemistry, Sahlgrenska Academy, Sahlgrenska University Hospital, Gothenburg, Sweden., Hansen TVO; Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Ravn K; Department of Clinical Genetics 4062, Juliane Marie Center, University Hospital Copenhagen, Blegdamsvej 9, 2100, Copenhagen, Denmark., Wibrand F; Department of Clinical Genetics 4062, Juliane Marie Center, University Hospital Copenhagen, Blegdamsvej 9, 2100, Copenhagen, Denmark., Østergaard E; Department of Clinical Genetics 4062, Juliane Marie Center, University Hospital Copenhagen, Blegdamsvej 9, 2100, Copenhagen, Denmark. elsebet.oestergaard.01@regionh.dk.

Publikováno v: JIMD reports [JIMD Rep] 2017; Vol. 33, pp. 69-77. Date of Electronic Publication: 2016 Sep 08.

Zobrazit plný text záznamu

Akademický článek

Biochemical basis of the antidiabetic activity of oleanolic acid and related pentacyclic triterpenes.

Autor: Castellano JM; Instituto de la Grasa, Consejo Superior de Investigaciones Cientificas, Seville, Spain. jmcas@ig.csic.es, Guinda A, Delgado T, Rada M, Cayuela JA

Publikováno v: Diabetes [Diabetes] 2013 Jun; Vol. 62 (6), pp. 1791-9.

Zobrazit plný text záznamu

Akademický článek

Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.

Autor: Bjursell MK; Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden., Blom HJ, Cayuela JA, Engvall ML, Lesko N, Balasubramaniam S, Brandberg G, Halldin M, Falkenberg M, Jakobs C, Smith D, Struys E, von Döbeln U, Gustafsson CM, Lundeberg J, Wedell A

Publikováno v: American journal of human genetics [Am J Hum Genet] 2011 Oct 07; Vol. 89 (4), pp. 507-15. Date of Electronic Publication: 2011 Sep 28.

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání