Unknown

Dataset Information

0

CSNK1A1 mutations and gene expression analysis in myelodysplastic syndromes with del(5q).

ABSTRACT: 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 ?-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 ?-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).

SUBMITTER: Bello E 

PROVIDER: S-EPMC4744770 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

CSNK1A1 mutations and gene expression analysis in myelodysplastic syndromes with del(5q).

Bello Erica E   Pellagatti Andrea A   Shaw Jacqueline J   Mecucci Cristina C   Kušec Rajko R   Killick Sally S   Giagounidis Aristoteles A   Raynaud Sophie S   Calasanz María J MJ   Fenaux Pierre P   Boultwood Jacqueline J  

British journal of haematology 20150618 2

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 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 (approximately 5%). We have shown up-regulation of β-catenin target gene  ...[more]

Similar Datasets

Unknown p53 protein expression independently predicts outcome in patients with lower-risk myelodysplastic syndromes with del(5q).
| S-EPMC4040908 | biostudies-literature
Unknown Identification of Lenalidomide Sensitivity and Resistance Mechanisms in Non-Del(5q) Myelodysplastic Syndromes.
| S-EPMC7246771 | biostudies-literature
Unknown Non-del(5q) myelodysplastic syndromes-associated loci detected by SNP-array genome-wide association meta-analysis.
| S-EPMC6880887 | biostudies-literature
Unknown Analysis of Intratumoral Heterogeneity in Myelodysplastic Syndromes with Isolated del(5q) Using a Single Cell Approach.
| S-EPMC7922695 | biostudies-literature
Unknown TP53 and MDM2 single nucleotide polymorphisms influence survival in non-del(5q) myelodysplastic syndromes.
| S-EPMC4741464 | biostudies-literature
Unknown Progression in patients with low- and intermediate-1-risk del(5q) myelodysplastic syndromes is predicted by a limited subset of mutations.
| S-EPMC5394951 | biostudies-literature
Unknown FISH and SNP-A karyotyping in myelodysplastic syndromes: improving cytogenetic detection of del(5q), monosomy 7, del(7q), trisomy 8 and del(20q).
| S-EPMC2826525 | biostudies-literature
Transcriptomics Affymetrix SNP array data for 5q- myelodysplastic syndromes
2014-10-07 | E-GEOD-59244 | biostudies-arrayexpress
Genomics Affymetrix SNP array data for 5q- myelodysplastic syndromes
2014-10-07 | GSE59244 | GEO
Transcriptomics Lenalidomide-mediated erythroid improvement in non-del(5q) myelodysplastic syndromes is associated with bone marrow immuno-remodeling [Affymetrix]
2017-08-24 | GSE102976 | GEO