Pathogenetic Mechanism and Therapy Strategies of Achondroplasia
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".
Deadline for manuscript submissions: closed (30 April 2021) | Viewed by 10231
Special Issue Editor
Interests: Pediatric Orthopaedics, Skeletal dysplasias, Achondroplasia, Osteogenesis imperfecta, Fibrodysplasia ossificans progressiva, Limb lengthening, Bone regeneration
Special Issue Information
Dear Colleagues,
Achondroplasia (ACH), the most common form of short-limbed skeletal dysplasia, is caused by activating mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Patients with ACH suffer from various neurological, otolaryngologic and orthopaedic problems for a lifetime. Multidisciplinary medical approaches from early childhood are required to maintain a long-term patient’s quality of life. Several researches to develop therapeutic drugs have focused on target inhibition of the activated FGFR3 signaling in growth plate chondrocytes. Some of the drugs including BMN111, infigratinib, and TransCon CNP, are currently on-going clinical trials.
In this special issue, we would like to review current therapeutic approaches for diverse disease-specific problems, including short stature, spinal canal stenosis, sleeping apnea, foramen magnum stenosis, and upper-airway obstruction. We will also discuss exciting advances of novel pharmacological development for future clinical applications and describe molecular mechanisms of these candidate drugs on the therapeutic potential.
Dr. Hiroshi Kitoh
Guest Editor
Manuscript Submission Information
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Keywords
- achondroplasia
- short stature
- multidisciplinary approaches
- quality of life
- FGFR3 signaling
- therapeutic drugs
- preclinical in vitro studies
- preclinical in vivo studies
- clinical trials
