Associated Papers
Functional consequences of C-terminal mutations in RUNX2.
Thaweesapphithak S et al.
Scientific Reports, 2023
Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia.
Hordyjewska-Kowalczyk E et al.
Clinical Genetics, 2019
Enhanced osteopontin splicing regulated by RUNX2 is HDAC-dependent and induces invasive phenotypes in NSCLC cells.
Huang J et al.
Cancer Cell International, 2019
Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing: A case report and literature review.
Ma D et al.
Medicine, 2018
30095610 (PubMed )
Supplement: medi-97-e11328-s001.doc
A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia.
Jung YJ et al.
Journal of Cellular Biochemistry, 2018
Novel Mutation of the RUNX2 Gene in Patients with Cleidocranial Dysplasia.
Hordyjewska E et al.
Molecular Syndromology, 2017
Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.
Jaruga A et al.
Clinical Genetics, 2016
Novel RUNX2 frameshift mutations in Chinese patients with cleidocranial dysplasia.
Huang Y et al.
European Journal of Oral Sciences, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC
A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene.
Callea M et al.
Bmj Case Reports, 2012
Genomic promoter occupancy of runt-related transcription factor RUNX2 in Osteosarcoma cells identifies genes involved in cell adhesion and motility.
van der Deen M et al.
The Journal of Biological Chemistry, 2012
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
Ott CE et al.
Human Mutation, 2010
The cleidocranial dysplasia-related R131G mutation in the Runt-related transcription factor RUNX2 disrupts binding to DNA but not CBF-beta.
Han MS et al.
Journal of Cellular Biochemistry, 2010
Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype.
Kim HJ et al.
Journal of Cellular Physiology, 2006
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