Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734485 | PMC |
| http://dx.doi.org/10.1136/jmg.37.12.958 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Achondroplasia, the most prevalent short-stature disorder, is caused by missense variants overactivating the fibroblast growth factor receptor 3 (FGFR3). As current surgical and pharmaceutical treatments only partially improve some disease features, we sought to explore a genetic approach. We show that an enhancer located 29 kb upstream of mouse Fgfr3 (-29E) is sufficient to confer a transgenic mouse reporter with a domain of expression in cartilage matching that of Fgfr3.
View Article and Find Full Text PDFAn immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination.
Congenit Anom (Kyoto)
January 2025
Department of Histology and Embryology, Medical School, Faculty of Health Sciences, Aristotle University of Thessaloniki, Greece.
The current case report presents the postmortem examination findings of a 17-week-old female fetus displaying thanatophoric dysplasia type 1 (TD-1) due to a known fibroblast growth factor receptor 3 (FGFR3) gene mutation. Gross and X-ray examination revealed significant abnormalities, including skeletal malformations with prominent TD-1 femur curvature. Microscopical evaluation indicated inadequate histological growth for the gestational age, with specific organ immaturity noted in multiple hematoxylin and eosin sections from internal organs, bone from epiphyses and diaphyses levels.
View Article and Find Full Text PDFPrevalence and Associated Factors of Ankle Osteoarthritis in Achondroplasia: A Retrospective Radiographic Assessment of 134 Patients.
Cartilage
December 2024
Department of Orthopaedic Surgery, Korea University Guro Hospital, Seoul, South Korea.
Article Synopsis
- The study investigates how common ankle osteoarthritis is in patients with achondroplasia and how surgical adjustments to lower limb alignment affect this.
- The research included 134 patients over a period of nearly nine years, assessing various angles and scores to evaluate ankle health.
- Findings show a moderate prevalence of ankle osteoarthritis (29%), with a strong link to the talar tilt angle, suggesting the importance of monitoring this angle in achondroplasia patients to manage potential osteoarthritis.
Prenatal diagnosis of achondroplasia and hypochondroplasia using three-dimensional computed tomography: a case series at a single institution.
Quant Imaging Med Surg
December 2024
Department of Obstetrics and Gynecology, Graduate School of Medicine Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Background: Fetal skeletal dysplasia (FSD) is a group of systemic bone and cartilage disorders that develop prenatally and can be detected using fetal ultrasonography. However, it is unsuitable for skeletal analysis because it is reflected by supersonic waves in the bone cortex. Three-dimensional computed tomography (3D-CT) is a suitable alternative and has improved the differential diagnosis of FSD during pregnancy.
View Article and Find Full Text PDFCDK8 inhibitor KY-065 rescues skeletal abnormalities in achondroplasia model mice.
Biochim Biophys Acta Mol Basis Dis
December 2024
Department of Bioactive Molecules, Pharmacology, Gifu Pharmaceutical University, Gifu 501-1196, Japan; United Graduate School of Drug Discovery and Medical Information Sciences, Gifu University, Gifu 501-1196, Japan; Center for One Medicine Innovative Translational Research (COMIT), Division of Innovative Modality Development, Gifu University, Gifu 501-1196, Japan. Electronic address:
Article Synopsis
- CDK8 is essential for bone health, and its inhibitor KY-065 has shown potential in preventing postmenopausal osteoporosis in mice.
- KY-065 has also been found to improve bone growth and chondrogenesis in a mouse model of achondroplasia (the most common form of genetic dwarfism), by targeting the STAT1 signaling pathway without affecting MAPK activation.
- The results suggest that CDK8 in chondrocytes could be a new target for treatment, with KY-065 emerging as a promising drug for achondroplasia.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!