(Q33717569)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20007321%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

title

Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20007321%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

main subject

Williams-Beuren syndrome

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20007321%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Jocelyn Widagdo

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20007321%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Kylie M Taylor

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20007321%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Frances A. Lemckert

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20007321%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

author name string

Nicole Santucci

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20007321%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Sara J Bontempo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20007321%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Enoch S E Tay

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20007321%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Jeff Hook

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20007321%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Peter W Gunning

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20007321%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Edna C Hardeman

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20007321%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

language of work or name

English

0 references

publication date

9 December 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20007321%20AND%20SRC:MED&resulttype=core&format=json

Journal of Biological Chemistry

15 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20007321%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

volume

285

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20007321%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

issue

7

1 reference

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15 January 2020

page(s)

4715-4724

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20007321%20AND%20SRC:MED&resulttype=core&format=json

Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice

15 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

William's syndrome: gene expression is related to parental origin and regional coordinate control

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

Alternative splicing and promoter use in TFII-I genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

Strong negative self regulation of prokaryotic transcription factors increases the intrinsic noise of protein expression

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

Signal-induced functions of the transcription factor TFII-I.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1-targeted mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

GTF2IRD1 in craniofacial development of humans and mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

Multiple GTF2I-like repeats of general transcription factor 3 exhibit DNA binding properties. Evidence for a common origin as a sequence-specific DNA interaction module

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

Williams-Beuren syndrome: a challenge for genotype-phenotype correlations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

hMusTRD1alpha1 represses MEF2 activation of the troponin I slow enhancer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

Regulation of alternative splicing of Gtf2ird1 and its impact on slow muscle promoter activity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

Characterization of general transcription factor 3, a transcription factor involved in slow muscle-specific gene expression

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

Negative autoregulation speeds the response times of transcription networks

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

Prevalence estimation of Williams syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

The role of a Williams-Beuren syndrome-associated helix-loop-helix domain-containing transcription factor in activin/nodal signaling

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

Molecular dissection of DNA sequences and factors involved in slow muscle-specific transcription

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix-loop-helix domains

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

A cre-transgenic mouse strain for the ubiquitous deletion of loxP-flanked gene segments including deletion in germ cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2836076

Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome

21 June 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.086660

GTF2IRD1 regulates transcription by binding an evolutionarily conserved DNA motif 'GUCE'.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.086660

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.086660

Integration of a c-myc transgene results in disruption of the mouse Gtf2ird1 gene, the homologue of the human GTF2IRD1 gene hemizygously deleted in Williams-Beuren syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.086660

Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.086660

21 January 2018

Identifiers

DOI

10.1074/JBC.M109.086660

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20007321%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20007321%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

PubMed publication ID

20007321

1 reference