Craniofacial Disorders and Treatments

Synergistic Variants in C-terminal Binding Protein 1 and Alkaline Phosphatase Lead to Mandibular Hypoplasia Through Impaired Wnt Signaling: An Oligogenic Model

The paper identifies synergistic variants in CTBP1 and ALPL causing mandibular hypoplasia through impaired Wnt signaling in a mouse model.

Effects of Mechanical Loading on Cranial Joint Mesenchymal Stem Cell Proliferation

This study investigates how mechanical loading affects MSC proliferation in the coronal suture, finding that five loading sessions are needed for a clear increase in proliferation, with effects lasting up to 24 hours.

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.

Fibronectin 1 is required for suture patency and dysregulated across craniosynostosis models in the mouse

This study investigates the role of Fibronectin 1 in suture patency and its dysregulation in craniosynostosis models in mice, identifying FN1 as a key regulator of calvarial growth and cell differentiation.

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.

Integrative multiomic analysis on single-nucleotide variants identifies candidate genes for human craniofacial malformation

This paper identifies 249 candidate genes for human craniofacial malformation by integrating GWAS variants with epigenomic and single-cell transcriptomic data using machine learning.

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.

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

This study examines the craniofacial and dental effects of Wnt5a gain- and loss-of-function in mice, finding distinct phenotypes that mirror the heterogeneity seen in Robinow syndrome.

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.

Cranial suture integrity is maintained by Fgfr3 in zebrafish

This study shows Fgfr3 maintains cranial suture integrity in zebrafish by regulating osteogenesis and interacting with FGF, Wnt, and BMP signaling.

The tectum transversum(TTR) maintains patency of the developing coronal suture

This study investigates the role of the tectum transversum (TTR) in maintaining coronal suture patency in mice, showing its essential function and potential involvement in BMP signaling regulation.

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.

Mouse scalp development requires Rac1 and SRF for the maintenance of mechanosensing mesenchyme

The paper investigates the role of Rac1 and SRF in cranial development, showing their necessity for maintaining mechanosensing mesenchyme in mice.

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.

FGF Signaling Regulates Development of the Anterior Fontanelle

This study identifies an FGF-WNT signaling circuit in the anterior fontanelle that regulates suture closure and frontal bone development in mice.

Tendon-associated gene expression precedes osteogenesis in mid-palatal suture establishment

The paper identifies tendon-associated gene expression as a key factor in mid-palatal suture establishment and shows similarities with cranial suture biology.

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.

DVL1 variants and C-terminal deletions have differential effects on craniofacial development and WNT signaling

The paper investigates the functional effects of DVL1 variants on craniofacial development and WNT signaling in chicken embryos, showing that C-terminal deletions cause developmental defects and impair both canonical and non-canonical WNT pathways.

Tcf12 controls dynamic calvarial bone growth and motor learning in mice

This study investigates the role of Tcf12 in calvarial bone development and motor learning in mice, finding that Tcf12 loss leads to altered bone formation and impaired motor learning.

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.

Craniofacial studies in chicken embryos confirm the pathogenicity of Frizzled2 variants associated with Robinow syndrome

The paper tests two FZD2 variants linked to Robinow syndrome in chicken embryos, showing increased facial width and altered WNT signaling.

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.

The role of embryonic origins and suture proximity in repair of cranial bone

This study examines cranial bone repair in mice, showing that suture proximity affects repair efficiency and identifies neural crest-derived stem cells as key contributors.

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.