Your browser doesn't support javascript.
loading
CSNK1A1 mutations and gene expression analysis in myelodysplastic syndromes with del(5q).
Bello, Erica; Pellagatti, Andrea; Shaw, Jacqueline; Mecucci, Cristina; Kusec, Rajko; Killick, Sally; Giagounidis, Aristoteles; Raynaud, Sophie; Calasanz, María J; Fenaux, Pierre; Boultwood, Jacqueline.
Afiliación
  • Bello E; LLR Molecular Haematology Unit, Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Pellagatti A; NIHR Biomedical Research Centre, Oxford, UK.
  • Shaw J; LLR Molecular Haematology Unit, Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Mecucci C; NIHR Biomedical Research Centre, Oxford, UK.
  • Kusec R; LLR Molecular Haematology Unit, Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Killick S; NIHR Biomedical Research Centre, Oxford, UK.
  • Giagounidis A; Haematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, Italy.
  • Raynaud S; Dubrava University Hospital and Zagreb School of Medicine, University of Zagreb, Zagreb, Croatia.
  • Calasanz MJ; Department of Haematology, Royal Bournemouth Hospital, Bournemouth, UK.
  • Fenaux P; Department of Haematology, Oncology, and Palliative Care, Marienhospital Düsseldorf, Düsseldorf, Germany.
  • Boultwood J; Centre Hospitalier Universitaire Nice, Nice, France.
Br J Haematol ; 171(2): 210-214, 2015 Oct.
Article en En | MEDLINE | ID: mdl-26085061
Mutations of CSNK1A1, a gene mapping to the commonly deleted region of the 5q- syndrome, have been recently described in patients with del(5q) myelodysplastic syndromes (MDS). Haploinsufficiency of Csnk1a1 in mice has been shown to result in ß-catenin activation and expansion of haematopoietic stem cells (HSC). We have screened a large cohort of 104 del(5q) MDS patients and have identified mutations of CSNK1A1 in five cases (approximately 5%). We have shown up-regulation of ß-catenin target genes in the HSC of patients with del(5q) MDS. Our data further support a central role of CSNK1A1 in the pathogenesis of MDS with del(5q).
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Br J Haematol Año: 2015 Tipo del documento: Article Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Br J Haematol Año: 2015 Tipo del documento: Article Pais de publicación: Reino Unido