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Sökning: onr:"swepub:oai:DiVA.org:oru-38736" > Genetic Basis of Co...

Genetic Basis of Congenital Erythrocytosis : Mutation Update and Online Databases

Bento, Celeste (författare)
Department of Hematology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
Percy, Melanie J. (författare)
Department of Haematology, Belfast City Hospital, Belfast, United Kingdom
Gardie, Betty (författare)
Unité Mixte de Recherche (UMR) 892 Inserm - 6299 CNRS, Université de Nantes, Nantes, France; Laboratoire de Génétique Oncologique de l'Ecole Pratique des Hautes Etudes (EPHE), INSERM U753, Institut de cancérologie Gustave Roussy, Villejuif, France
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Maia, Tabita Magalhaes (författare)
Department of Hematology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
van Wijk, Richard (författare)
Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht, Netherlands
Perrotta, Silverio (författare)
Dipartimento della Donna, Del Bambino e di Chirurgia Generale e Specialistica, Second University of Naples, Naples, Italy
Della Ragione, Fulvio (författare)
Department of Biochemistry, Biophysics and General Pathology, Second University of Naples, Naples, Italy
Almeida, Helena (författare)
Department of Hematology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
Rossi, Cedric (författare)
Laboratoire d'Hématologie, Centre Hospitalier Universitaire Dijon, Dijon, France
Girodon, Francois (författare)
Laboratoire d'Hématologie, Centre Hospitalier Universitaire Dijon, Dijon, France
Åström, Maria, 1959- (författare)
Region Örebro län,Departments of Medicine and Laboratory Medicine
Neumann, Drorit (författare)
Department of Cell and Developmental Biology, Sackler Faculty of Medicine, Tel-Aviv University, Ramat-Aviv, Israel
Schnittger, Susanne (författare)
Munich Leukemia Laboratory (MLL), Munich, Germany
Landin, Britta (författare)
Department of Clinical Chemistry, Karolinska University Hospital, Stockholm, Sweden
Minkov, Milen (författare)
Department of Hematology/Oncology, St. Anna Children's Hospital, Medical University of Vienna, Vienna, Austria
Randi, Maria Luigia (författare)
Department of Medicine DIMED, University of Padua, Padua, Italy
Richard, Stephane (författare)
Laboratoire de Génétique Oncologique de l'Ecole Pratique des Hautes Etudes (EPHE), INSERM U753, Institut de cancérologie Gustave Roussy, Villejuif, France
Casadevall, Nicole (författare)
Hôpital Saint Antoine, Paris, France; Assistance Publique-Hôpitaux de Paris, Paris, France; Pierre et Marie Curie University, Paris, France; UMR1009 Institut Gustave Roussy Villejuif, Paris, France
Vainchenker, William (författare)
UMR 1009 and GRex, INSERM, Université Paris-Sud, Institut Gustave Roussy, Villejuif, France
Rives, Susana (författare)
Department of Pediatric Hematology, Hospital Sant Joan de Déu de Barcelona, University of Barcelona, Barcelona, Spain
Hermouet, Sylvie (författare)
Unité Mixte de Recherche (UMR) 892 Inserm - 6299 CNRS, Université de Nantes, Nantes, France
Ribeiro, M. Leticia (författare)
Department of Hematology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
McMullin, Mary Frances (författare)
Department of Haematology, CCRCB, Queen's University, Belfast, Northern Ireland, United Kingdom
Cario, Holger (författare)
Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany
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 (creator_code:org_t)
2013-10-22
2014
Engelska.
Ingår i: Human Mutation. - : Wiley-Blackwell. - 1059-7794 .- 1098-1004. ; 35:1, s. 15-26
Relaterad länk:
https://estudogeral....
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https://urn.kb.se/re...
https://doi.org/10.1...
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • Congenital erythrocytosis (CE), or congenital polycythemia, represents a rare and heterogeneous clinical entity. It is caused by deregulated red blood cell production where erythrocyte overproduction results in elevated hemoglobin and hematocrit levels. Primary congenital familial erythrocytosis is associated with low erythropoietin (Epo) levels and results from mutations in the Epo receptor gene (EPOR). Secondary CE arises from conditions causing tissue hypoxia and results in increased Epo production. These include hemoglobin variants with increased affinity for oxygen (HBB, HBA mutations), decreased production of 2,3-bisphosphoglycerate due to BPGM mutations, or mutations in the genes involved in the hypoxia sensing pathway (VHL, EPAS1, and EGLN1). Depending on the affected gene, CE can be inherited either in an autosomal dominant or recessive mode, with sporadic cases arising de novo. Despite recent important discoveries in the molecular pathogenesis of CE, the molecular causes remain to be identified in about 70% of the patients. With the objective of collecting all the published and unpublished cases of CE the COST action MPN&MPNr-Euronet developed a comprehensive Internet-based database focusing on the registration of clinical history, hematological, biochemical, and molecular data (http://www.erythrocytosis.org/). In addition, unreported mutations are also curated in the corresponding Leiden Open Variation Database.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

Nyckelord

congenital erythrocytosis
molecular pathogenesis
online databases
Genetik
Genetics

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