|
Williams Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models.
|
31418010 |
2019 |
|
Williams Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our study provides molecular and cellular evidence for myelination deficits in WS linked to neuronal deletion of Gtf2i.
|
31011227 |
2019 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
The general transcription factor 2I (GTF2I, protein TFII-I) is one of these proteins and has been implicated in the neurodevelopmental phenotypes of WS and Dup7q11.23.
|
30120731 |
2019 |
|
Williams Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Publisher Correction: Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioral and myelin alterations rescuable by a remyelinating drug.
|
31171854 |
2019 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
The social phenotype of WBS has been linked to <i>GTF2I</i> or general transcription factor IIi (<i>TFII-I</i>).
|
29568691 |
2018 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
The GTF2I and GTF2IRD1 genes encoding the TFII-I family of transcription factors are prime candidates for the Williams-Beuren syndrome, a complex multisystem disorder characterized by craniofacial, skeletal, and neurocognitive deficiencies.
|
28085512 |
2018 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Finally, in light of the progress in gene-manipulating approaches, we suggest their uses in revealing the neural functions of GTF2I in the context of WS.
|
29305905 |
2018 |
|
Williams Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Second, we synthesize evidence showing that variation in expression of the gene GTF2I (General Transcription Factor II-I) underlies the primary social phenotypes of Williams syndrome and that common genetic variation in GTF2I mediates oxytocin reactivity, and its correlates, in healthy populations.
|
28499504 |
2017 |
|
Williams Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
These results are consistent with reduced threat-related amygdala reactivity in WS and suggest that common variation in GTF2I contributes to broader variability in socioemotional brain function and behavior, with implications for understanding the neurogenetic bases of WS as well as social anxiety.
|
26853120 |
2017 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
All patients received 3.7- to 5.5-GBq radioactive iodine (RAI) ablation, post-therapy whole-body scans (TxWBSs), and diagnostic WBS (DxWBSs) during follow-up.
|
27572060 |
2017 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Copy-number variation (CNV) in the general transcription factor gene, GTF2I, located in the 7q11.23 chromosomal region that is hemideleted in Williams syndrome and duplicated in the 7q11.23 duplication syndrome (Dup7), is associated with gene-dose-dependent anxiety in mouse models and in both Williams syndrome and Dup7.
|
26285132 |
2015 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Our findings further indicate that Gtf2i haploinsufficiency plays an important role in the neurodevelopmental and cognitive abnormalities of WBS and that it is possible to rescue part of this neurocognitive phenotype by restoring Gtf2i expression levels in specific brain areas.
|
26216516 |
2015 |
|
Williams Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Several lines of evidence have linked the gene GTF2I (General Transcription Factor IIi) with the social phenotypes of Williams syndrome, but a role for this gene in sociality within healthy populations has yet to be investigated.
|
25429715 |
2014 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Objectives : GTF2I and GTF2IRD1 genes located in Williams-Beuren syndrome (WBS) critical region encode TFII-I family transcription factors.
|
23145914 |
2013 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders.
|
22048961 |
2012 |
|
Williams Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
De novo CNVs of known pathogenic significance in other genomic disorders were also observed, including deletion at the TAR (thrombocytopenia absent radius) region on 1q21.1 and duplication at the WBS (Williams-Beuren syndrome) region at 7q11.23.
|
22083728 |
2012 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
The GTF gene family of transcription factors (GTF2I, GTF2IRD1 and GTF2IRD2) are all highly expressed in the brain, and GTF2I and GTF2IRD1 are involved in the pathogenesis of the cognitive and behavioural phenotypes associated with WBS.
|
23118870 |
2012 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
GTF2IRD2 belongs to a family of transcriptional regulators (including TFII-I and GTF2IRD1) that are responsible for many of the key features of Williams-Beuren syndrome (WBS).
|
22899722 |
2012 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Genes lying telomeric to RFC2, including CLIP2, GTF2I and GTF2IRD1, are currently thought to be the most likely major contributors to the typical Williams syndrome cognitive profile, characterized by a better-than-expected auditory rote-memory ability, a relative sparing of language capabilities, and a severe visual-spatial constructive impairment.
|
22608712 |
2012 |
|
Williams Syndrome
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Taken together, these data suggest that calcium metabolism abnormalities observed in WBS may be attributable to TFII-I haploinsufficiency and subsequent TRPC3 overexpression, thereby increasing both digestive and renal calcium absorption.
|
22566418 |
2012 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
CTD_human |
One of genes in the region, GTF2I, has been implicated in the hypersociability and visuospatial deficits of WBS based on genotype-phenotype correlation studies of patients with atypical deletions.
|
21328569 |
2011 |
|
Williams Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
One of genes in the region, GTF2I, has been implicated in the hypersociability and visuospatial deficits of WBS based on genotype-phenotype correlation studies of patients with atypical deletions.
|
21328569 |
2011 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
MGD |
We performed behavioral characterization of heterozygous mutant mice to document in vivo implications of TFII-I in the cognitive profile of WBS patients.
|
20403157 |
2010 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Along with previously reported cases, clinical-molecular correlations in these two families further confirm that the functional hemizygosity for the GTF2I and GTF2IRD1 genes is the main cause of the neurocognitive profile and some aspects of the gestalt phenotype of WBS.
|
19897463 |
2010 |
|
Williams Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Human genetic mapping data have implicated two related genes GTF2IRD1 and GTF2I in the cause of some the key features of WBS, including craniofacial dysmorphology, hypersociability, and visuospatial deficits.
|
20007321 |
2010 |