ArticlePloS one2017
Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review.Journal of translational medicine · 2024Pooled it
- SCFSignal transduction and targeted therapy · 2026Article
- Identification of a NovelGenes · 2025Article
- Oxygen concentration modulates HDAC1-Mediated regulation of osteogenic signaling pathways in dental pulp cells.Frontiers in cell and developmental biology · 2025Article
- New Genetic Variants ofBiology · 2024Article
- Peptidylarginine deiminase 2 plays a key role in osteogenesis by enhancing RUNX2 stability through citrullination.Cell death & disease · 2023Article
- Article
- Evaluation of the multiple tissue factors in bone of primary osteoplasty and rhinoplasty in patients affected by cleft lip palate.Histology and histopathology · 2022Article
- A Novel 90-kbp Deletion ofGenes · 2022Article
- Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia.Genes & genomics · 2022Article
- Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations.Journal of applied oral science : revista FOB · 2022Article
- Solitary Median Maxillary Central Incisor Syndrome: An Exploration of the Pathogenic Mechanism.Frontiers in genetics · 2022Article
- Molecular genetic analysis and growth hormone response in patients with syndromic short stature.BMC medical genomics · 2021Article
- An Exploration of Mutagenesis in a Family with Cleidocranial Dysplasia withoutFrontiers in genetics · 2021Article
- Metformin, an AMPK Activator, Inhibits Activation of FLSs but Promotes HAPLN1 Secretion.Molecular therapy. Methods & clinical development · 2020Article
- Syringic acid, a phenolic acid, promotes osteoblast differentiation by stimulation of Runx2 expression and targeting of Smad7 by miR-21 in mouse mesenchymal stem cells.Journal of cell communication and signaling · 2018Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cleidocranial dysplasia (CCD) is an autosomal dominant inheritable skeletal disorder characterized by cranial dysplasia, clavicle hypoplasia and dental abnormalities. This disease is mainly caused by heterozygous mutations in RUNX2, a gene that encodes an osteoblast-specific transcription factor. In the present study, mutational analyses of RUNX2 gene were performed on four unrelated Chinese patients with CCD. Four different RUNX2 mutations were detected in these patients, including one nonsense mutation (c.199C>T p.Q67X) and three missense mutations (c.338T>G p.L113R, c.557G>C p.R186T and c.673C>T p.R225W). Among them, two mutations (c.199C>T p.Q67X and c.557G>C p.R186T) were novel and the other two had been reported in previous literatures. Except for Q67X mutation located in the Q/A domain, other three mutations were clustered within the highly conserved Runt domain. Green fluorescent protein (GFP) and RUNX2 fusion protein analyses in vitro showed that nuclear accumulation of RUNX2 protein was disturbed by Q67X mutation, while the other two mutations (c.338T>G p.L113R and c.557G>C p.R186T) had no effects on the subcellular distribution of RUNX2. Luciferase reporter assay demonstrated that all the three novel RUNX2 mutations significantly reduced the transactivation activity of RUNX2 on osteocalcin promoter. Our findings enrich the evidence of molecular genetics that the mutations of RUNX2 gene are responsible for CCD.
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