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GTF2IRD1 gene
Known as:
GTF2I repeat domain containing 1
, MUSCLE TFII-I REPEAT DOMAIN-CONTAINING PROTEIN 1
, BEN
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National Institutes of Health
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2017
Highly Cited
2017
Structural variants in genes associated with human Williams-Beuren syndrome underlie stereotypical hypersociability in domestic dogs
B. vonHoldt
,
Emily G. Shuldiner
,
+9 authors
M. Udell
Science Advances
2017
Corpus ID: 12298906
We hypothesize that selection during dog domestication targeted CNVs associated with hypersociability. Although considerable…
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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
A. Antonell
,
M. Del Campo
,
+8 authors
L. Pérez-Jurado
Journal of Medical Genetics
2009
Corpus ID: 28562633
Background Williams–Beuren syndrome (WBS) is a developmental disorder with multisystemic manifestations mainly characterised by…
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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
L. Dai
,
U. Bellugi
,
+8 authors
J. Korenberg
American journal of medical genetics. Part A
2009
Corpus ID: 7308327
Genetic contributions to human cognition and behavior are clear but difficult to define. Williams syndrome (WS) provides a unique…
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Highly Cited
2008
Highly Cited
2008
Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1‐targeted mice
E. Young
,
T. Lipina
,
+8 authors
L. Osborne
Genes, brain, and behavior
2008
Corpus ID: 15899651
The GTF2IRD1 general transcription factor is a candidate for involvement in the varied cognitive and neurobehavioral symptoms of…
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Highly Cited
2005
Highly Cited
2005
GTF2IRD1 in Craniofacial Development of Humans and Mice
M. Tassabehji
,
P. Hammond
,
+11 authors
D. Donnai
Science
2005
Corpus ID: 26269826
Craniofacial abnormalities account for about one-third of all human congenital defects, but our understanding of the genetic…
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2005
2005
A Glycosyltransferase Involved in Biosynthesis of Triglycosylated Glycopeptidolipids in Mycobacterium smegmatis: Impact on Surface Properties
C. Deshayes
,
F. Laval
,
H. Montrozier
,
M. Daffé
,
G. Etienne
,
J. Reyrat
Journal of bacteriology
2005
Corpus ID: 26041076
ABSTRACT The cell envelope of mycobacteria is a complex structure that plays an important role in the interactions of the cell…
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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.
D. Bayarsaihan
,
J. Dunai
,
+5 authors
F. Ruddle
Genomics
2002
Corpus ID: 10921945
We have recently isolated a mouse ortholog of human GTF2IRD1 that is related to GTF2I. GTF2IRD1 and GTF2I proteins are…
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Highly Cited
2001
Highly Cited
2001
Dynamical Stability Conditions for Recurrent Neural Networks with Unsaturating Piecewise Linear Transfer Functions
H. Wersing
,
W. Beyn
,
H. Ritter
Neural Computation
2001
Corpus ID: 5190384
We establish two conditions that ensure the nondivergence of additive recurrent networks with unsaturating piecewise linear…
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Highly Cited
1999
Highly Cited
1999
Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome.
L. Osborne
,
T. Campbell
,
A. Daradich
,
S. Scherer
,
L. Tsui
Genomics
1999
Corpus ID: 22997697
Williams-Beuren syndrome (WBS) is a complex developmental disorder involving the hemizygous deletion of genes on chromosome 7q11…
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Highly Cited
1992
Highly Cited
1992
BEN, a surface glycoprotein of the immunoglobulin superfamily, is expressed in a variety of developing systems.
O. Pourquié
,
C. Corbel
,
J. L. Le Caer
,
J. Rossier
,
N. L. Le Douarin
Proceedings of the National Academy of Sciences…
1992
Corpus ID: 263692
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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