Achondroplasia: aligning mouse model with human clinical
studies shows crucial importance of immediate postnatal start
of the therapy

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Achondroplasia: aligning mouse model with human clinical studies shows crucial importance of ...

Přehled o publikaci

J 2024

Achondroplasia: aligning mouse model with human clinical studies shows crucial importance of immediate postnatal start of the therapy

RICO LLANOS, Gustavo; Frantisek SPOUTIL; Eva BLAHOVÁ; Adolf KOUDELKA; Michaela PROCHAZKOVA et. al.

Základní údaje

Originální název

Achondroplasia: aligning mouse model with human clinical studies shows crucial importance of immediate postnatal start of the therapy

Autoři

Vydání

Journal of bone and mineral research, Hoboken, Wiley, 2024, 0884-0431

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Kód RIV

RIV/00216224:14110/24:00138597

Organizace

Lékařská fakulta – Masarykova univerzita – Repozitář

DOI

https://doi.org/10.1093/jbmr/zjae173

UT WoS

001359521900001

EID Scopus

2-s2.0-85212329528

Klíčová slova anglicky

achondroplasia; Fgfr3; fibroblast growth factor; treatment; postnatal; infigratinib

Návaznosti

GF21-26400K, projekt VaV. LX22NPO5102, projekt VaV. MUNI/G/1771/2020, interní kód Repo. NU23-10-00550, projekt VaV. CCP III, velká výzkumná infrastruktura. Czech-BioImaging III, velká výzkumná infrastruktura.

Změněno: 3. 6. 2025 00:50, RNDr. Daniel Jakubík

Anotace

V originále

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.

Přiložené soubory

https://is.muni.cz/publication/2470319/Achondroplasia_aligning_mouse_model_with_human_clinical_studies_shows_crucial_importance_of_immediate_postnatal_start_of_the_therapy.pdf

Citovat

RICO LLANOS, Gustavo; Frantisek SPOUTIL; Eva BLAHOVÁ; Adolf KOUDELKA; Michaela PROCHAZKOVA; Aleksandra Anna CZYREK; Bohumil FAFÍLEK; Jan PROCHAZKA; Marcos GONZÁLEZ LÓPEZ; Jan KŘIVÁNEK; Radislav SEDLACEK; Deborah KRAKOW; Yosuke NONAKA; Yoshikazu NAKAMURA a Pavel KREJČÍ. Achondroplasia: aligning mouse model with human clinical studies shows crucial importance of immediate postnatal start of the therapy. Journal of bone and mineral research. Hoboken: Wiley, 2024, roč. 39, č. 12, s. 1783-1792. ISSN 0884-0431. Dostupné z: https://doi.org/10.1093/jbmr/zjae173.

@article{66891,
   author = {Rico Llanos, Gustavo and Spoutil, Frantisek and Blahová, Eva and Koudelka, Adolf and Prochazkova, Michaela and Czyrek, Aleksandra Anna and Fafílek, Bohumil and Prochazka, Jan and González López, Marcos and Křivánek, Jan and Sedlacek, Radislav and Krakow, Deborah and Nonaka, Yosuke and Nakamura, Yoshikazu and Krejčí, Pavel},
   article_location = {Hoboken},
   article_number = {12},
   doi = {https://doi.org/10.1093/jbmr/zjae173},
   keywords = {achondroplasia; Fgfr3; fibroblast growth factor; treatment; postnatal; infigratinib},
   language = {eng},
   issn = {0884-0431},
   journal = {Journal of bone and mineral research},
   title = {Achondroplasia: aligning mouse model with human clinical studies shows crucial importance of immediate postnatal start of the therapy},
   url = {https://academic.oup.com/jbmr/article/39/12/1783/7826674?login=true},
   volume = {39},
   year = {2024}
}

TY  - JOUR
ID  - 66891
AU  - Rico Llanos, Gustavo - Spoutil, Frantisek - Blahová, Eva - Koudelka, Adolf - Prochazkova, Michaela - Czyrek, Aleksandra Anna - Fafílek, Bohumil - Prochazka, Jan - González López, Marcos - Křivánek, Jan - Sedlacek, Radislav - Krakow, Deborah - Nonaka, Yosuke - Nakamura, Yoshikazu - Krejčí, Pavel
PY  - 2024
TI  - Achondroplasia: aligning mouse model with human clinical studies shows crucial importance of immediate postnatal start of the therapy
JF  - Journal of bone and mineral research
VL  - 39
IS  - 12
SP  - 1783-1792
EP  - 1783-1792
PB  - Wiley
SN  - 0884-0431
KW  - achondroplasia
KW  - Fgfr3
KW  - fibroblast growth factor
KW  - treatment
KW  - postnatal
KW  - infigratinib
UR  - https://academic.oup.com/jbmr/article/39/12/1783/7826674?login=true
N2  - 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.
ER  -

RICO LLANOS, Gustavo; Frantisek SPOUTIL; Eva BLAHOVÁ; Adolf KOUDELKA; Michaela PROCHAZKOVA; Aleksandra Anna CZYREK; Bohumil FAFÍLEK; Jan PROCHAZKA; Marcos GONZÁLEZ LÓPEZ; Jan KŘIVÁNEK; Radislav SEDLACEK; Deborah KRAKOW; Yosuke NONAKA; Yoshikazu NAKAMURA a Pavel KREJČÍ. Achondroplasia: aligning mouse model with human clinical studies shows crucial importance of immediate postnatal start of the therapy. \textit{Journal of bone and mineral research}. Hoboken: Wiley, 2024, roč.~39, č.~12, s.~1783-1792. ISSN~0884-0431. Dostupné z: https://doi.org/10.1093/jbmr/zjae173.