Pregled bibliografske jedinice broj: 818245
CSNK1A1 mutations and gene expression analysis in myelodysplastic syndromes with del(5q)
CSNK1A1 mutations and gene expression analysis in myelodysplastic syndromes with del(5q) // British journal of haematology, 171 (2015), 2; 210-214 doi:10.1111/bjh.13563 (međunarodna recenzija, članak, znanstveni)
CROSBI ID: 818245 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
CSNK1A1 mutations and gene expression analysis in myelodysplastic syndromes with del(5q)
Autori
Bello, Erica ; Pellagatti, Andrea ; Shaw, Jacqueline ; Mecucci, Cristina ; Kušec, Rajko ; Killick, Sally ; Giagounidis, Aristoteles ; Raynaud, Sophie ; Calasanz, Maria Jose ; Fenaux, Pierre ; Boultwood, Jacqueline
Izvornik
British journal of haematology (0007-1048) 171
(2015), 2;
210-214
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni
Ključne riječi
MDS ; 5q- syndrome ; CSNK1A1
Sažetak
Mutations of the 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 β-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 (4.8%). We have shown up- regulation of β-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
Izvorni jezik
Engleski
Znanstvena područja
Temeljne medicinske znanosti
POVEZANOST RADA
Ustanove:
Medicinski fakultet, Zagreb,
Klinička bolnica "Dubrava"
Profili:
Rajko Kušec
(autor)
Citiraj ovu publikaciju:
Časopis indeksira:
- Current Contents Connect (CCC)
- Web of Science Core Collection (WoSCC)
- Science Citation Index Expanded (SCI-EXP)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus
- MEDLINE
