TET enzymes regulate skeletal development through increasing chromatin accessibility of RUNX2 target genes

L Wang, X You, D Ruan, R Shao, HQ Dai… - Nature …, 2022 - nature.com
The Ten-eleven translocation (TET) family of dioxygenases mediate cytosine demethylation
by catalyzing the oxidation of 5-methylcytosine (5mC). TET-mediated DNA demethylation …

[HTML][HTML] Cleidocranial dysplasia spectrum disorder

K Machol, R Mendoza-Londono, B Lee - 2017 - europepmc.org
Cleidocranial dysplasia (CCD) spectrum disorder is a skeletal dysplasia that represents a
clinical continuum ranging from classic CCD (triad of delayed closure of the cranial sutures …

[HTML][HTML] Demographic, clinical, and radiological characteristics of cleidocranial dysplasia: a systematic review of cases reported in South America

E Cano-Pérez, C Gómez-Alegría, FP Herrera… - Annals of Medicine and …, 2022 - Elsevier
Introduction Cleidocranial dysplasia (CCD) is a rare disease characterized by craniofacial,
skeletal, and oral anomalies. The disease prevalence is estimated to be 1 per million …

Syringic acid, a phenolic acid, promotes osteoblast differentiation by stimulation of Runx2 expression and targeting of Smad7 by miR-21 in mouse mesenchymal stem …

B Arumugam, K Balagangadharan… - Journal of cell …, 2018 - Springer
Syringic acid (SA), a phenolic acid, has been used in Chinese and Indian medicine for
treating diabetes but its role in osteogenesis has not yet been investigated. In the present …

New function of RUNX2 in regulating osteoclast differentiation via the AKT/NFATc1/CTSK Axis

Y Xin, Y Liu, D Liu, J Li, C Zhang, Y Wang… - Calcified tissue …, 2020 - Springer
Cleidocranial dysplasia is an autosomal dominant skeletal disorder resulting from RUNX2
mutations. The influence of RUNX2 mutations on osteoclastogenesis and bone resorption …

Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia

X Zhang, Y Liu, X Wang, X Sun, C Zhang, S Zheng - PLoS One, 2017 - journals.plos.org
Cleidocranial dysplasia (CCD) is an autosomal dominant inheritable skeletal disorder
characterized by cranial dysplasia, clavicle hypoplasia and dental abnormalities. This …

Structural genome variations related to craniosynostosis

M Poot - Molecular Syndromology, 2019 - karger.com
Craniosynostosis refers to a condition during early development in which one or more of the
fibrous sutures of the skull prematurely fuse by turning into bone, which produces …

The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review

S Thaweesapphithak, K Termteerapornpimol… - Journal of Translational …, 2024 - Springer
Cleidocranial Dysplasia (CCD) is a rare genetic disorder characterized by skeletal
abnormalities and dental anomalies, primarily caused by variants in the RUNX2 gene …

A Novel 90-kbp Deletion of RUNX2 Associated with Cleidocranial Dysplasia

Y Zhang, X Duan - Genes, 2022 - mdpi.com
Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia caused by
runt-related transcription factor 2 (RUNX2) mutations. In addition to the regular missense …

Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey

EG Berkay, L Elkanova, T Kalaycı… - American Journal of …, 2021 - Wiley Online Library
Loss or decrease of function in runt‐related transcription factor 2 encoded by RUNX2 is
known to cause a rare autosomal‐dominant skeletal disorder, cleidocranial dysplasia …