Global ETD Search
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Showing 1 to 3 of 3 for “"GTF2IRD1"”.
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An in vivo study of GTF2IRD1 function and its contribution to the physical features of Williams Beuren Syndrome
… characteristic set of facial features. The gene GTF2IRD1, first discovered in our laboratory, and the adjacent, homologous gene GTF2I, both fall within the WBS deletion region. Haploinsufficiency of the transcriptional regulators they encode is thought to account for the major neurological and …
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Aplicación web interactiva para minería de textos: Análisis del Síndrome de Williams-Beuren
… pérdida de más de veinticinco genes, como GTF2I, GTF2IRD1, GTF2IRD2, ELN, LIMK1, STX1A, BAZIB, BCL7B y F2D9, en el cromosoma 7 en la posición 11.23. Este trastorno del neurodesarrollo puede provocar entre otras enfermedades, estenosis aórtica supravalvular, hipersociabilidad, deficits en cognición …
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Rearrangements of 7q11.23: disorders of the epigenome
… and mice with hemizygous deletions of Gtf2i and Gtf2ird1, I provide the first evidence that the TFII-I family of transcription factors contribute to aberrant DNA methylation when deleted or duplicated. Lastly, I identified monoallelic expression of Fkbp6, a gene involved in meiosis and piRNA …