Article

<i>Gtf2i</i> and <i>Gtf2ird1</i> mutation are not sufficient to reproduce mouse phenotypes caused by the Williams Syndrome critical region

2019-02-24

Abstract excerpt

Williams syndrome is a neurodevelopmental disorder caused by a 1.5-1.8Mbp deletion on chromosome 7q11.23, affecting the copy number of 26-28 genes. Phenotypes of Williams syndrome include cardiovascular problems, craniofacial dysmorphology, deficits in visual spatial cognition, and a characteristic hypersocial personality. There are still no genes in the region that have been consistently linked to the cognitive a...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 5f7d7731-6586-52da-bec4-ac7c7411027f
DOI: 10.1101/558544

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

<i>Gtf2i</i> and <i>Gtf2ird1</i> mutation are not sufficient to reproduce mouse phenotypes caused by the Williams Syndrome critical regionDOI 10.1101/558544Read

Extensive characterization of a Williams Syndrome murine model shows <i>Gtf2ird1</i> -mediated rescue of select sensorimotor tasks, but no effect on enhanced social behaviorSemantic proximity Read

Functions of <i>Gtf2i</i> and <i>Gtf2ird1</i> in the developing brain: transcription, DNA-binding, and long term behavioral consequencesSemantic proximity Read

Anxious, hypoactive phenotype combined with motor deficits in Gtf2ird1 null mouse model relevant to Williams syndrome.Semantic proximity Read

Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions.Semantic proximity Read

Global analysis of gene expression in the developing brain of Gtf2ird1 knockout mice.Semantic proximity Read

Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams-Beuren Syndrome.Semantic proximity Read

Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development.Semantic proximity Read

Mutation of Gtf2ird1 from the Williams-Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations.Semantic proximity Read

Duplication of GTF2I results in separation anxiety in mice and humans.Semantic proximity Read

Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice.Semantic proximity Read

The contribution of GTF2I haploinsufficiency to Williams syndrome.Semantic proximity Read

Essential role of the N-terminal region of TFII-I in viability and behavior.Semantic proximity Read