Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism.

The Journal of biological chemistry - 12 Feb 2010

Palmer Stephen J, Santucci Nicole, Widagdo Jocelyn, Bontempo Sara J, Taylor Kylie M, Tay Enoch S E, Hook Jeff, Lemckert Frances, Gunning Peter W, Hardeman Edna C

Abstract excerpt

The GTF2IRD1 gene is of principal interest to the study of Williams-Beuren syndrome (WBS). This neurodevelopmental disorder results from the hemizygous deletion of a region of chromosome 7q11.23 containing 28 genes including GTF2IRD1. WBS is thought to be caused by haploinsufficiency of certain d...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Computational Biology
Share to Electrophoretic Mobility Shift Assay

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fluorescent Antibody Technique

Share to Mice, Mutant Strains

Share to Muscle Proteins

Share to Nuclear Proteins

Share to Trans-Activators

Share to Williams Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 20007321
DOI: 10.1074/jbc.M109.086660
PMCID: PMC2836076

Genes

ELN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20007321-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism.PMID 20007321Read ↗

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

RNA-Seq analysis of Gtf2ird1 knockout epidermal tissue provides potential insights into molecular mechanisms underpinning Williams-Beuren syndrome.Semantic 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 ↗

Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development.Semantic proximity Read ↗

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

Molecular basis of Williams-Beuren syndrome: TFII-I regulated targets involved in craniofacial development.Semantic proximity Read ↗

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

Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.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 ↗

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

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

⌁Select a neighboring publication to make it the new centre.