0604507 - ÚMG 2025 RIV US eng J - Článek v odborném periodiku
Rico-Llanos, G. - Špoutil, František - Bláhová, E. - Koudelka, A. - Procházková, Michaela - Czyrek, A. - Fafílek, Bohumil - Procházka, Jan - Lopez, M. G. - Křivánek, J. - Sedláček, Radislav - Krakow, D. - Nonaka, Y. - Nakamura, Y. - Krejčí, Pavel
Achondroplasia: aligning mouse model with human clinical studies shows crucial importance of immediate postnatal start of the therapy.
Journal of Bone and Mineral Research. Roč. 39, č. 12 (2024), s. 1783-1792. ISSN 0884-0431. E-ISSN 1523-4681
Grant CEP: GA MŠMT LX22NPO5102; GA MZd NU23-10-00550; GA MŠMT(CZ) LM2018126; GA MŠMT LM2023036; GA MŠMT(CZ) LM2023050; GA MŠMT EF18_046/0015861
Institucionální podpora: RVO:68378050 ; RVO:67985904
Klíčová slova: growth * receptor * ossification * activation * closure * rescues * achondroplasia * Fgfr3 * fibroblast growth factor * treatment * postnatal * infigratinib
Obor OECD: Developmental biology
Impakt faktor: 5.1, rok: 2023 ; AIS: 1.85, rok: 2023
Způsob publikování: Open access
Web výsledku:
https://academic.oup.com/jbmr/article/39/12/1783/7826674?login=falseDOI: https://doi.org/10.1093/jbmr/zjae173

The article provides clear evidence that achondroplasia should be treated immediately after birth, not only to increase height (appendicular growth), but more importantly to prevent defective cranial skeletogenesis and associated severe neurological complications. Although later treatment promotes growth of the long bones (achondroplasia patients grow taller), the defective head skeleton that forms before and/or early after birth cannot be restored if therapy is not started immediately after birth. We also describe the limitations of postnatal treatment and make a strong case for the development of prenatal therapy for achondroplasia, which appears necessary for a comprehensive treatment of this condition.
Trvalý link: https://hdl.handle.net/11104/0361937