Exploring the role of TWIST1 in malocclusion and craniofacial morphology

This study identifies a putative functional noncoding variant that dysregulates <i>TWIST1</i> via disruption of <i>PITX2</i> DNA binding and links this effect to postnatal craniofacial phenotypes in both humans and mice. These findings expand the developmental and genetic framework for understanding malocclusion and suggest a broader role for <i>TWIST1</i> in cranial base growth and midface patterning.

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Publication Details

Journal
Frontiers in Physiology
Published
2026-02-16
DOI
https://doi.org/10.3389/fphys.2026.1749243
Primary Topic
Craniofacial Disorders and Treatments
Type
article
Field-Weighted Citation Impact
0.00

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article

Exploring the role of TWIST1 in malocclusion and craniofacial morphology

Aline Lourenço Petrin, Brad A. Amendt, Steven Eliason, Lina M. Moreno Uribe et al.
Frontiers in Physiology
Craniofacial Disorders and Treatments
article

Exploring the role of TWIST1 in malocclusion and craniofacial morphology

Aline Lourenço Petrin, Brad A. Amendt, Steven Eliason, Lina M. Moreno Uribe, Clarissa S. G. Da Fontoura
article en

Abstract

This study identifies a putative functional noncoding variant that dysregulates <i>TWIST1</i> via disruption of <i>PITX2</i> DNA binding and links this effect to postnatal craniofacial phenotypes in both humans and mice. These findings expand the developmental and genetic framework for understanding malocclusion and suggest a broader role for <i>TWIST1</i> in cranial base growth and midface patterning.

Frontiers in PhysiologyVol. 17
University of Iowa (US), American Association of Endodontists (US)
National Institutes of Health, National Institute of Dental and Craniofacial Research, National Center for Advancing Translational Sciences
Openalex Percentile: Top 51%
Craniofacial Disorders and Treatments
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