Achondroplasia: a comprehensive clinical review

RM Pauli - Orphanet journal of rare diseases, 2019 - Springer
Achondroplasia is the most common of the skeletal dysplasias that result in marked short
stature (dwarfism). Although its clinical and radiologic phenotype has been described for …

Achondroplasia: Development, pathogenesis, and therapy

DM Ornitz, L Legeai‐Mallet - Developmental dynamics, 2017 - Wiley Online Library
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause
achondroplasia (Ach), the most common form of dwarfism in humans, and related …

Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial

R Savarirayan, L Tofts, M Irving, W Wilcox, CA Bacino… - The Lancet, 2020 - thelancet.com
Background There are no effective therapies for achondroplasia. An open-label study
suggested that vosoritide administration might increase growth velocity in children with …

Glutathione-mediated conjugation of anticancer drugs: an overview of reaction mechanisms and biological significance for drug detoxification and bioactivation

A Potęga - Molecules, 2022 - mdpi.com
The effectiveness of many anticancer drugs depends on the creation of specific metabolites
that may alter their therapeutic or toxic properties. One significant route of biotransformation …

New developments in the biology of fibroblast growth factors

DM Ornitz, N Itoh - WIREs mechanisms of disease, 2022 - Wiley Online Library
The fibroblast growth factor (FGF) family is composed of 18 secreted signaling proteins
consisting of canonical FGFs and endocrine FGFs that activate four receptor tyrosine …

Infigratinib: first approval

C Kang - Drugs, 2021 - Springer
Infigratinib (TRUSELTIQ TM), a fibroblast growth factor receptor (FGFR)-specific tyrosine
kinase inhibitor, is being co-developed by QED Therapeutics and Helsinn for the treatment …

Therapeutics targeting FGF signaling network in human diseases

M Katoh - Trends in pharmacological sciences, 2016 - cell.com
Fibroblast growth factor (FGF) signaling through its receptors, FGFR1, FGFR2, FGFR3, or
FGFR4, regulates cell fate, angiogenesis, immunity, and metabolism. Dysregulated FGF …

Birth prevalence of achondroplasia: A systematic literature review and meta‐analysis

PK Foreman, F van Kessel, R van Hoorn… - American Journal of …, 2020 - Wiley Online Library
Achondroplasia is a genetic disorder that results in disproportionate short stature. The true
prevalence of achondroplasia is unknown as estimates vary widely. This systematic …

FGF4 retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogs

EA Brown, PJ Dickinson, T Mansour… - Proceedings of the …, 2017 - National Acad Sciences
Chondrodystrophy in dogs is defined by dysplastic, shortened long bones and premature
degeneration and calcification of intervertebral discs. Independent genome-wide …

[HTML][HTML] Lifetime impact of achondroplasia: current evidence and perspectives on the natural history

J Hoover-Fong, MS Cheung, V Fano, L Hagenas… - Bone, 2021 - Elsevier
Achondroplasia, the most common form of disproportionate short stature, is caused by a
variant in the fibroblast growth factor receptor 3 (FGFR3) gene. Advances in drug treatment …