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Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia
BackgroundCleidocranial dysplasia (CCD) is a rare genetic disorder affecting bone and cartilage development. Clinical features of CCD comprise short...
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Identification of RUNX2 variants associated with cleidocranial dysplasia
BackgroundCleidocranial dysplasia (CCD) is a rare autosomal dominant disorder mainly characterized by hypoplastic or absent clavicles, delayed...
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Runx2 and Nell-1 in dental follicle progenitor cells regulate bone remodeling and tooth eruption
Dental follicles are necessary for tooth eruption, surround the enamel organ and dental papilla, and regulate both the formation and resorption of...
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Peptidylarginine deiminase 2 plays a key role in osteogenesis by enhancing RUNX2 stability through citrullination
Peptidylarginine deiminase (PADI) 2 catalyzes the post-translational conversion of peptidyl-arginine to peptidyl-citrulline in a process called...
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A Dyadic Nosology for Osteogenesis Imperfecta and Bone Fragility Syndromes 2024
In 2023 following extensive consultation with key stakeholders, the expert Nosology Working Group of the International Skeletal Dysplasia Society...
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Diagnostic Approach to Patients with Low Serum Alkaline Phosphatase
Increased serum levels of alkaline phosphatase (ALP) are widely recognized as a biochemical marker of many disorders affecting the liver or bone....
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Cranial Phenomena
Frontal-parietal pores, 75% of which have been interpreted as porotic hyperostosis, appear actually to represent trans-cortical circulation and are...
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Spinach for Crystal Bones: Popeye Children
Popeye the Sailor is a fictional cartoon character who is known for his distinctive appearance, with a pipe in his mouth, a squinty eye, and his...
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Establishment of induced pluripotent stem cells derived from patients and healthy siblings of a nevoid basal cell carcinoma syndrome family
It is known that a nevoid basal cell carcinoma syndrome (NBCCS) is characterized by a combination of developmental abnormalities and a predisposition...
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Hematologic Disease
Iron deficiency does not cause proliferative change or skull “porosityPorosity.” Marrow hyperplasiaHyperplasia is elicited by blood loss or...
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New Function of RUNX2 in Regulating Osteoclast Differentiation via the AKT/NFATc1/CTSK Axis
Cleidocranial dysplasia is an autosomal dominant skeletal disorder resulting from RUNX2 mutations. The influence of RUNX2 mutations on...
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The synergistic effects of TGF-β1 and RUNX2 on enamel mineralization through regulating ODAPH expression during the maturation stage
Transforming growth factor β1 (TGF-β1) and Runt-related transcription factor 2 (RUNX2) are critical factors promoting enamel development and...
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Odontogenesis-Associated Phosphoprotein (ODAPH) Overexpression in Ameloblasts Disrupts Enamel Formation via Inducing Abnormal Mineralization of Enamel in Secretory Stage
Odontogenesis-associated phosphoprotein (ODAPH) is a recently discovered enamel matrix protein. Our previous study demonstrated that knockouting out Odaph...
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A novel Alu-mediated microdeletion in the
RUNX2 gene in a Chinese patient with cleidocranial dysplasiaCleidocranial dysplasia (CCD; OMIM: 119600) is a rare autosomal dominant skeletal dysplasia caused by RUNX2 gene mutations. The present study...
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The roles and regulatory mechanisms of TGF-β and BMP signaling in bone and cartilage development, homeostasis and disease
Transforming growth factor-βs (TGF-βs) and bone morphometric proteins (BMPs) belong to the TGF-β superfamily and perform essential functions during...
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Runx2 overexpression promotes bone repair of osteonecrosis of the femoral head (ONFH)
BackgroundRunt-related transcription factor-2 (Runx2) has been considered an inducer to improve bone repair ability of mesenchymal stem cells (MSCs).
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Targeted reversion of induced pluripotent stem cells from patients with human cleidocranial dysplasia improves bone regeneration in a rat calvarial bone defect model
BackgroundRunt-related transcription factor 2 (RUNX2) haploinsufficiency causes cleidocranial dysplasia (CCD) which is characterized by supernumerary...
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Genes and Gene Networks Regulating Mineralization
The chapter addresses current understanding of gene regulation and defines hierarchical gene regulatory circuits mediating vertebrate mineral...
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The genomic landscape of mammal domestication might be orchestrated by selected transcription factors regulating brain and craniofacial development
Domestication transforms once wild animals into tamed animals that can be then exploited by humans. The process entails modifications in the body,...
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RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci
Expansions of tandem repeats (TRs) cause approximately 60 monogenic diseases. We expect that the discovery of additional pathogenic repeat expansions...
