Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene
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Title
Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene
Authors
Keywords
HEK293 Cell, Intellectual Disability, Noonan Syndrome, Dominant Negative Effect, Matrix Attachment Region
Journal
HUMAN GENETICS
Volume 132, Issue 12, Pages 1383-1393
Publisher
Springer Nature
Online
2013-08-07
DOI
10.1007/s00439-013-1345-9
References
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- SATB2 in Combination With Cytokeratin 20 Identifies Over 95% of all Colorectal Carcinomas
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- Toriello-Carey syndrome in a patient with ade novobalanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2
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- 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate
- (2009) Jill Urquhart et al. European Journal of Medical Genetics
- Satb1 and Satb2 regulate embryonic stem cell differentiation andNanogexpression
- (2009) Fabio Savarese et al. GENES & DEVELOPMENT
- Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome
- (2009) Jill A. Rosenfeld et al. PLoS One
- Breakpoint Mapping and Array CGH in Translocations: Comparison of a Phenotypically Normal and an Abnormal Cohort
- (2008) Julia Baptista et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations
- (2008) M. Grandis et al. HUMAN MOLECULAR GENETICS
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- (2008) Yoko Aoki et al. HUMAN MUTATION
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