Negative Autoregulation of GTF2IRD1 in Williams-Beuren Syndrome via a Novel DNA Binding Mechanism

The GTF2IRD1 gene is of principal interest to the study of Williams-Beuren syndrome (WBS). This neurodevelopmental disorder results from the hemizygous deletion of a region of chromosome 7q11.23 containing 28 genes including GTF2IRD1. WBS is thought to be caused by haploinsufficiency of certain dosa...

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Autors principals: Palmer, Stephen J., Santucci, Nicole, Widagdo, Jocelyn, Bontempo, Sara J., Taylor, Kylie M., Tay, Enoch S. E., Hook, Jeff, Lemckert, Frances, Gunning, Peter W., Hardeman, Edna C.
Format: Artigo
Idioma:Inglês
Publicat: American Society for Biochemistry and Molecular Biology 2010
Matèries:
Molecular Bases of Disease
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2836076/
https://ncbi.nlm.nih.gov/pubmed/20007321
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M109.086660
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