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GTF2IRD1 gene

Known as: GTF2I repeat domain containing 1, MUSCLE TFII-I REPEAT DOMAIN-CONTAINING PROTEIN 1, BEN 
National Institutes of Health

Papers overview

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Highly Cited
2017
Highly Cited
2017
Structural variants in genes associated with human Williams-Beuren syndrome underlie stereotypical hypersociability in domestic dogs
We hypothesize that selection during dog domestication targeted CNVs associated with hypersociability. Although considerable… 
Highly Cited
2009
Highly Cited
2009
Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams–Beuren syndrome neurocognitive profile
Background Williams–Beuren syndrome (WBS) is a developmental disorder with multisystemic manifestations mainly characterised by… 
Highly Cited
2009
Highly Cited
2009
Is it Williams syndrome? GTF2IRD1 implicated in visual–spatial construction and GTF2I in sociability revealed by high resolution arrays
Genetic contributions to human cognition and behavior are clear but difficult to define. Williams syndrome (WS) provides a unique… 
Highly Cited
2008
Highly Cited
2008
Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1‐targeted mice
The GTF2IRD1 general transcription factor is a candidate for involvement in the varied cognitive and neurobehavioral symptoms of… 
Highly Cited
2005
Highly Cited
2005
GTF2IRD1 in Craniofacial Development of Humans and Mice
Craniofacial abnormalities account for about one-third of all human congenital defects, but our understanding of the genetic… 
2005
2005
A Glycosyltransferase Involved in Biosynthesis of Triglycosylated Glycopeptidolipids in Mycobacterium smegmatis: Impact on Surface Properties
ABSTRACT The cell envelope of mycobacteria is a complex structure that plays an important role in the interactions of the cell… 
2002
2002
Genomic organization of the genes Gtf2ird1, Gtf2i, and Ncf1 at the mouse chromosome 5 region syntenic to the human chromosome 7q11.23 Williams syndrome critical region.
We have recently isolated a mouse ortholog of human GTF2IRD1 that is related to GTF2I. GTF2IRD1 and GTF2I proteins are… 
Highly Cited
2001
Highly Cited
2001
Dynamical Stability Conditions for Recurrent Neural Networks with Unsaturating Piecewise Linear Transfer Functions
We establish two conditions that ensure the nondivergence of additive recurrent networks with unsaturating piecewise linear… 
Highly Cited
1999
Highly Cited
1999
Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome.
Williams-Beuren syndrome (WBS) is a complex developmental disorder involving the hemizygous deletion of genes on chromosome 7q11… 
Highly Cited
1992
Highly Cited
1992
BEN, a surface glycoprotein of the immunoglobulin superfamily, is expressed in a variety of developing systems.
We have previously identified a 95- to 100-kDa cell surface glycoprotein, which we named BEN (for bursal epithelium and neurons… 
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