The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice
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Abstract
References (48)
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De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch
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Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient
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A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect
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Prader-Willi Syndrome Is Caused by Disruption of the SNRPN Gene
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The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion
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The mouse Necdin gene is expressed from the paternal allele only and lies in the 7C region of the mouse chromosome 7, a region of conserved synteny to the human Prader-Willi syndrome region.
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The Mouse Necdin Gene Is Expressed from the Paternal Allele Only and Lies in the 7C Region of the Mouse Chromosome 7, a Region of Conserved Synteny to the Human Prader-Willi Syndrome Region
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Analysis of murine Snrpn and human SNRPN gene imprinting in transgenic mice
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