Wnt5a gain- and loss-of-function present distinctly in craniofacial bone.

ABSTRACT:

Introduction

Robinow syndrome has characteristic craniofacial and dental features and can be caused by gain- or loss-of-function variants in Wnt family member 5A (WNT5A) non-canonical signaling. The craniofacial and dental manifestation of Robinow syndrome is heterogenous, as is the effect of altered Wnt5a in animal models. The relationship between Wnt5a and craniofacial and dental phenotypes is not fully understood.

Methods

To investigate the role of Wnt5a in craniofacial and dental development, we utilized a Wnt5a conditional loss-of-function (LOF: Wnt5a ^fl/fl ;Ctsk ^cre ) and a Wnt5a conditional gain-of-function (GOF: Rosa26-LSL-Wnt5a;Ctsk ^cre ) model

SUBMITTER: Houchen CJ 

PROVIDER: S-EPMC12330612 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature