Craniofacial Disorders and Treatments

CSF1R+ macrophage and osteoclast depletion impairs neural crest proliferation and craniofacial morphogenesis

This study shows that depleting CSF1R+ macrophages and osteoclasts during pregnancy impairs craniofacial development, affecting skull shape, sutures, and facial structures.

Loss of SPECC1L in cranial neural crest cells results in increased hedgehog signaling and frontonasal dysplasia

This study shows that loss of SPECC1L in cranial neural crest cells causes increased Hedgehog signaling and craniofacial defects similar to human syndrome.

A RUNX2 GFP reporter is expressed prior to osteochondral differentiation and models Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (MDMHB)

The paper develops a RUNX2 GFP reporter mouse model to study RUNX2 function in craniofacial development and models the human disorder MDMHB caused by RUNX2 overactivity.

PRDM paralogs are required for Meckel's cartilage formation during mandibular bone development

This study shows PRDM3 and PRDM16 are essential for Meckel's cartilage formation by regulating Wnt/β-catenin signaling during neural crest cell differentiation in mice.

Downstream branches of receptor tyrosine kinase signaling act interdependently to shape the face

The paper inhibits three downstream RTK signaling pathways in chicken embryos and finds they cause similar truncation of the frontonasal process, suggesting interdependent roles in morphogenesis.

Human stem cell model of neural crest cell differentiation reveals a requirement of SF3B4 in survival, maintenance, and differentiation

This study uses hESCs to model Nager and Rodriguez syndromes, showing SF3B4 is essential for neural crest cell survival, maintenance, and differentiation.

A Higher Proportion of Craniosynostosis Genes Are Cancer Driver Genes

The paper identifies 113 craniosynostosis genes, finding that 21 are cancer driver genes, a 14-fold enrichment compared to baseline, and explores their shared roles in signaling pathways.

TGF-β Signaling in Cranial Neural Crest Affects Late-Stage Mandibular Bone Resorption and Length

This study investigates the role of TGF-β signaling in neural crest mesenchyme during mandibular development, finding it reduces osteoclast number and impacts jaw length late in development.

Etiology of Craniofacial and Cardiac Malformations in a Mouse Model of SF3B4-Related Syndromes

This study investigates the etiology of craniofacial and cardiac malformations in a mouse model of SF3B4-related syndromes, identifying gene expression and splicing changes linked to developmental defects.

Dyrk1a is required for craniofacial development in Xenopus laevis.

This study shows that DYRK1A is essential for craniofacial development in Xenopus laevis, with its loss causing facial malformations and reduced neural crest domains.

Apical expansion of calvarial osteoblasts and suture patency is dependent on graded fibronectin cues

This study shows that graded Fibronectin (FN1) cues guide calvarial osteoblast migration and suture patency, with disruptions in FN1 or related pathways causing craniosynostosis in mice.

Joint Multi-Ancestry and Admixed GWAS Reveals the Complex Genetics behind Human Cranial Vault Shape

This study performs a joint multi-ancestry and admixed GWAS on cranial vault shape, identifying 30 genome-wide significant loci and highlighting genetic pathways involved in craniofacial development.

Identification of conserved skeletal enhancers associated with craniosynostosis risk genes

The paper identifies conserved skeletal enhancers near GWAS risk loci for craniosynostosis, linking sequence variants to altered gene expression and disease risk.

Control of Craniofacial Development by the Collagen Receptor, Discoidin Domain Receptor 2

This study investigates the role of DDR2 in craniofacial development using Ddr2-deficient mice, revealing defects in bone growth, suture formation, and chondrogenesis.

A dysmorphic mouse model reveals developmental interactions of chondrocranium and dermatocranium

This study uses 3D reconstructions of mouse chondrocranium and dermatocranium to show how a Fgfr2 variant affects their development and interaction.

Fgf8 dosage regulates jaw shape and symmetry through pharyngeal-cardiac tissue relationships

This study shows that reduced Fgf8 dosage causes asymmetric jaw development in mice, with left-side defects more severe than right-side, and links these asymmetries to heart development.

The developing mouse coronal suture at single-cell resolution

This study maps the cellular diversity of the embryonic mouse coronal suture using single-cell transcriptomics, identifying key markers and cell types involved in suture development and fusion.

Viral delivery of tissue nonspecific alkaline phosphatase diminishes craniosynostosis in one of two FGFR2C342Y/+ mouse models of Crouzon syndrome.

This study shows that delivering recombinant TNAP via lentivirus reduces craniosynostosis severity in a neonatal mouse model but not in a postnatal model, with effects dependent on genetic background.

FGFR3 is a positive regulator of osteoblast expansion and differentiation during zebrafish skull vault development

This study shows that fgfr3 loss-of-function in zebrafish causes cranial vault defects by delaying osteoblast expansion and differentiation, with changes in the extracellular matrix.

Aberrant cell segregation in craniofacial primordia and the emergence of facial dysmorphology in craniofrontonasal syndrome

This study investigates how ephrin-B1 mosaicism contributes to craniofacial dysmorphology in CFNS by analyzing cell segregation in mouse models and identifying key EphB receptors involved.

Using human sequencing to guide craniofacial research.

The paper discusses using human sequencing and CRISPR-Cas9 to study a novel craniofacial syndrome, finding that a variant in AMOTL1 causes lethality in mice but its pathogenicity in humans remains unclear.

The osteogenic potential of the neural crest lineage may contribute to craniosynostosis

This study compares the osteogenic potential of neural crest and mesodermal osteoblasts in mouse models, finding neural crest-derived cells more efficient at generating bony nodules and capable of nucleating ossification centres when co-cultured with mesodermal cells.