Craniofacial phenotypes and genetics of DiGeorge syndrome

N Funato - Journal of Developmental Biology, 2022 - mdpi.com
The 22q11. 2 deletion is one of the most common genetic microdeletions, affecting
approximately 1 in 4000 live births in humans. A 1.5 to 2.5 Mb hemizygous deletion of …

Cranial base synchondrosis: chondrocytes at the hub

SA Hallett, W Ono, RT Franceschi, N Ono - International Journal of …, 2022 - mdpi.com
The cranial base is formed by endochondral ossification and functions as a driver of
anteroposterior cranial elongation and overall craniofacial growth. The cranial base contains …

[HTML][HTML] The TET-Sall4-BMP regulatory axis controls craniofacial cartilage development

W Wang, N Yang, L Wang, Y Zhu, X Chu, W Xu, Y Li… - Cell Reports, 2024 - cell.com
Craniofacial microsomia (CFM) is a congenital defect that usually results from aberrant
development of embryonic pharyngeal arches. However, the molecular basis of CFM …

Pth1r signal in Gli1+ cells maintains postnatal cranial base synchondrosis

K Amano, Y Kitaoka, S Kato… - Journal of dental …, 2023 - journals.sagepub.com
Cranial base synchondroses are the endochondral ossification centers for cranial base
growth and thus indispensable for proper skull, brain, and midfacial development. The …

[PDF][PDF] Rethinking the origin of the primary respiratory mechanism

B Bordoni, AR Escher, AR Escher Jr - Cureus, 2023 - cureus.com
Spheno-occipital synchondrosis (SOS) is the joint regarded as the most important
foundation for understanding cranial osteopathy and craniosacral therapy. SOS is the origin …

The skull's girder: A brief review of the cranial base

S Rengasamy Venugopalan… - Journal of developmental …, 2021 - mdpi.com
The cranial base is a multifunctional bony platform within the core of the cranium, spanning
rostral to caudal ends. This structure provides support for the brain and skull vault above …

Signatures of adaptive evolution in platyrrhine primate genomes

H Byrne, TH Webster, SF Brosnan… - Proceedings of the …, 2022 - National Acad Sciences
The platyrrhine family Cebidae (capuchin and squirrel monkeys) exhibit among the largest
primate encephalization quotients. Each cebid lineage is also characterized by notable …

Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis–van Creveld syndrome

DC Thomas, JD Moorthy, V Prabhakar… - American Journal of …, 2022 - Wiley Online Library
Abstract Ellis–van Creveld syndrome (EvC) is an autosomal recessive genetic disorder
involving pathogenic variants of EVC and EVC2 genes and classified as a ciliopathy. The …

[HTML][HTML] A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens

N Funato, A Heliövaara, C Boeckx - The American Journal of Human …, 2024 - cell.com
Changes in gene regulatory elements play critical roles in human phenotypic divergence.
However, identifying the base-pair changes responsible for the distinctive morphology of …

Genetic architecture of trait variance in craniofacial morphology

F Andrade, L Howell, CJ Percival, JT Richtsmeier… - Genetics, 2024 - academic.oup.com
The genetic architecture of trait variance has long been of interest in genetics and evolution.
One of the earliest attempts to understand this architecture was presented in Lerner's …