Autor: |
Hideto Aoki, Eiichi Suzuki, Takashi Nakamura, Shoko Onodera, Akiko Saito, Manami Ohtaka, Mahito Nakanishi, Ken Nishimura, Atsushi Saito, Toshifumi Azuma |
Rok vydání: |
2022 |
Předmět: |
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Zdroj: |
Medical molecular morphology. 55(3) |
ISSN: |
1860-1499 |
Popis: |
Cleidocranial dysplasia (CCD) is a hereditary disorder associated with skeletal dysplasia and dental abnormalities. CCD arises from heterozygous loss of function mutations in the Runt-related transcription factor 2 (RUNX2) gene. Osteoporosis is often observed in CCD patients and conventional vitamin D supplementation is recommended. However, sufficient evidences have not been presented yet. This study investigated the role of RUNX2 in osteoblastic differentiation and sought to identify potential target genes for the treatment of osteoporosis associated with CCD, using induced pluripotent stem cell (iPSC) technology. We successfully established Runx2 |
Databáze: |
OpenAIRE |
Externí odkaz: |
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