Associated Papers
Functional impact of pathogenic mutations in the Runt homology domain of mouse Runx2 on skeletal and dental phenotypes in cleidocranial dysplasia.
Ogawa S et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025
Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).
Wu R et al.
Frontiers in Neurology, 2025
The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review.
Thaweesapphithak S et al.
Journal of Translational Medicine, 2024
Functional consequences of C-terminal mutations in RUNX2.
Thaweesapphithak S et al.
Scientific Reports, 2023
Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation.
Kalayci Yigin A et al.
Global Medical Genetics, 2022
Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report.
Inchingolo AD et al.
Medicina (kaunas, Lithuania), 2021
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
Targeted reversion of induced pluripotent stem cells from patients with human cleidocranial dysplasia improves bone regeneration in a rat calvarial bone defect model.
Saito A et al.
Stem Cell Research & Therapy, 2018
Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.
Jaruga A et al.
Clinical Genetics, 2016
RUNX2 mutations in cleidocranial dysplasia.
Lee KE et al.
Genetics and Molecular Research : Gmr, 2013
RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia.
Lin WD et al.
Genetics and Molecular Biology, 2011
Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome.
Napierala D et al.
Human Molecular Genetics, 2008
Mutations in the RUNX2 gene in Chinese patients with cleidocranial dysplasia.
Xuan D et al.
Annals of Clinical and Laboratory Science, 2008
Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype.
Kim HJ et al.
Journal of Cellular Physiology, 2006
Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.
Cunningham ML et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2006
Dysregulation of chondrogenesis in human cleidocranial dysplasia.
Zheng Q et al.
American Journal of Human Genetics, 2005
Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin.
Wyckoff MH et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia.
Tessa A et al.
Human Mutation, 2003
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.
Otto F et al.
Human Mutation, 2002
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.
Zhou G et al.
Human Molecular Genetics, 1999
Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation.
Napierala D et al.
Molecular Genetics and Metabolism, 0