Craniofacial Disorders and Treatments

Nucleolin loss-of-function leads to aberrant FGF signaling and craniofacial anomalies

This study shows that Nucleolin loss-of-function in zebrafish causes craniofacial anomalies by disrupting Fgf signaling and rRNA synthesis.

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.

HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations

The paper identifies structural variants in HDAC9 that disrupt TWIST1 regulatory elements, causing craniofacial and limb malformations through altered transcriptional regulation.

Embryonic requirements for Tcf12 in the development of the mouse coronal suture

This study investigates the role of Tcf12 in coronal suture development in mice, showing its embryonic requirement in controlling bone growth and suture boundary formation.

Single-cell analysis identifies a key role for Hhip in murine coronal suture development

The paper uses single-cell RNA-seq to identify Hhip's role in murine coronal suture development, showing its necessity for maintaining suture mesenchyme and osteogenic fronts.

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.

Studies on trans-sutural distraction osteogenesis-related genes based on transcriptome sequencing

This study uses transcriptome sequencing in rats to analyze gene expression changes during trans-sutural distraction osteogenesis at 1 and 2 weeks, identifying shifts in muscle, bone, and immune-related pathways.

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.

Modifiers and Mediators of Craniosynostosis Severity Revealed by Differential Gene Expression

The paper compares gene expression in two mouse models of craniosynostosis to identify genetic modifiers affecting disease severity.

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.