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Article

Essential role of the N-terminal region of TFII-I in viability and behavior.

BMC medical genetics - 19 Apr 2010

Lucena Jaume, Pezzi Susana, Aso Ester, Valero Maria C, Carreiro Candelas, Dubus Pierre, Sampaio Adriana, Segura Maria, Barthelemy Isabel, Zindel Marc Y, Sousa Nuno, Barbero José L, Maldonado Rafael, Pérez-Jurado Luis A, Campuzano Victoria

Abstract excerpt

BACKGROUND: GTF2I codes for a general intrinsic transcription factor and calcium channel regulator TFII-I, with high and ubiquitous expression, and a strong candidate for involvement in the morphological and neuro-developmental anomalies of the Williams-Beuren syndrome (WBS). WBS is a genetic dis...

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Identifiers

PMID: 20403157
DOI: 10.1186/1471-2350-11-61
PMCID: PMC2865459

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20403157-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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Essential role of the N-terminal region of TFII-I in viability and behavior.PMID 20403157Read ↗

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

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

Generation of a mouse model for a conditional inactivation of Gtf2i allele.Semantic proximity Read ↗

Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams-Beuren Syndrome.Semantic proximity Read ↗

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

The contribution of GTF2I haploinsufficiency to Williams syndrome.Semantic proximity Read ↗

TFII-I, a candidate gene for Williams syndrome cognitive profile: parallels between regional expression in mouse brain and human phenotype.Semantic 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 ↗

Transcription Factor 2I Regulates Neuronal Development via TRPC3 in 7q11.23 Disorder Models.Semantic proximity Read ↗

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

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