Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis

C Medina-Gomez, BH Mullin, A Chesi… - Communications …, 2023 - nature.com
Skull bone mineral density (SK-BMD) provides a suitable trait for the discovery of key genes
in bone biology, particularly to intramembranous ossification, not captured at other skeletal …

Shaping modern human skull through epigenetic, transcriptional and post-transcriptional regulation of the RUNX2 master bone gene

L Di Pietro, M Barba, D Palacios, F Tiberio… - Scientific Reports, 2021 - nature.com
RUNX2 encodes the master bone transcription factor driving skeletal development in
vertebrates, and playing a specific role in craniofacial and skull morphogenesis. The …

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

CM Justice, G Yagnik, Y Kim, I Peter, EW Jabs… - Nature …, 2012 - nature.com
Sagittal craniosynostosis is the most common form of craniosynostosis, affecting
approximately one in 5,000 newborns. We conducted, to our knowledge, the first genome …

[HTML][HTML] Signaling pathways in osteogenesis and osteoclastogenesis: Lessons from cranial sutures and applications to regenerative medicine

JB Maxhimer, JP Bradley, JC Lee - Genes & diseases, 2015 - Elsevier
One of the simplest models for examining the interplay between bone formation and
resorption is the junction between the cranial bones. Although only roughly a quarter of …

The development of the calvarial bones and sutures and the pathophysiology of craniosynostosis

M Ishii, J Sun, MC Ting, RE Maxson - Current topics in developmental …, 2015 - Elsevier
The skull vault is a complex, exquisitely patterned structure that plays a variety of key roles in
vertebrate life, ranging from the acquisition of food to the support of the sense organs for …

Whole‐exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways

E Tønne, BJ Due‐Tønnessen… - American Journal of …, 2022 - Wiley Online Library
Craniosynostosis (CS) is a common congenital anomaly defined by premature fusion of one
or more cranial sutures. Syndromic CS involves additional organ anomalies or …

Neural Crest-Specific Loss of Prkar1a Causes Perinatal Lethality Resulting from Defects in Intramembranous Ossification

GN Jones, DR Pringle, Z Yin, MM Carlton… - Molecular …, 2010 - academic.oup.com
The cranial neural crest (CNC) undergoes complex molecular and morphological changes
during embryogenesis in order to form the vertebrate skull, and nearly three quarters of all …

BMPR1A maintains skeletal stem cell properties in craniofacial development and craniosynostosis

T Maruyama, R Stevens, A Boka, L DiRienzo… - Science Translational …, 2021 - science.org
Skeletal stem cells from the suture mesenchyme, which are referred to as suture stem cells
(SuSCs), exhibit long-term self-renewal, clonal expansion, and multipotency. These SuSCs …

The balance of WNT and FGF signaling influences mesenchymal stem cell fate during skeletal development

T Maruyama, AJ Mirando, CX Deng, W Hsu - Science signaling, 2010 - science.org
Craniosynostosis, a developmental disorder resulting from premature closure of the gaps
(sutures) between skull bones, can be caused by excessive intramembranous ossification, a …

A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis

CM Justice, A Cuellar, K Bala, JA Sabourin… - Human genetics, 2020 - Springer
Our previous genome-wide association study (GWAS) for sagittal nonsyndromic
craniosynostosis (sNCS) provided important insights into the genetics of midline CS. In this …