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 …
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
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 …
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 …
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 …
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 …
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 …
rostral to caudal ends. This structure provides support for the brain and skull vault above …
Signatures of adaptive evolution in platyrrhine primate genomes
The platyrrhine family Cebidae (capuchin and squirrel monkeys) exhibit among the largest
primate encephalization quotients. Each cebid lineage is also characterized by notable …
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 …
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 …
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 …
One of the earliest attempts to understand this architecture was presented in Lerner's …