DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome
ContributorsCanzonetta, Claudia; Mulligan, Claire; Deutsch, Samuel; Ruf, Sandra; O'Doherty, Aideen; Lyle, Robert; Borel, Christelle; Lin-Marq, Nathalie; Delom, Frederic; Groet, Jurgen; Schnappauf, Felix; De Vita, Serena; Averill, Sharon; Priestley, J. V.; Martin, J. E.; Shipley, Janet; Denyer, Gareth; Epstein, C. J.; Fillat, Cristina; Estivill, Xavier; Tybulewicz, V. L.; Fisher, E. M.; Antonarakis, Stylianos; Nizetic, Dean
Published inAmerican journal of human genetics, vol. 83, no. 3, p. 388-400
Publication date2008
Abstract
Keywords
- Animals
- Cell Differentiation
- Disease Models, Animal
- Down Syndrome/genetics/ metabolism/pathology
- Embryonic Stem Cells/ pathology/physiology
- Gene Dosage
- Gene Expression Regulation, Developmental
- Humans
- Mice
- Mice, Transgenic
- Pluripotent Stem Cells/pathology/physiology
- Protein-Serine-Threonine Kinases/genetics/ physiology
- Protein-Tyrosine Kinases/genetics/ physiology
- Quantitative Trait Loci
- Repressor Proteins/genetics/ physiology
Affiliation
Citation (ISO format)
CANZONETTA, Claudia et al. DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome. In: American journal of human genetics, 2008, vol. 83, n° 3, p. 388–400. doi: 10.1016/j.ajhg.2008.08.012
Main files (1)
Article
Identifiers
- PID : unige:8664
- DOI : 10.1016/j.ajhg.2008.08.012
- PMID : 18771760
ISSN of the journal0002-9297