Progress in managing children with achondroplasia-Reference-Cited by-同舟云学术

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Progress in managing children with achondroplasia

Published:2024-08-12 Issue: Volume: Page:1-8
ISSN:1744-6651
Container-title:Expert Review of Endocrinology & Metabolism
language:en
Short-container-title:Expert Review of Endocrinology & Metabolism

Author:

Taylor-Miller Tashunka¹,Savarirayan Ravi¹²³

Affiliation:

1. Victorian Clinical Genetics Service, Melbourne, Parkville, Victoria, Australia

2. Molecular Therapies, Murdoch Children’s Research Institute, Parkville, Victoria, Australia

3. Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/17446651.2024.2390416

Reference72 articles.

1. Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history

2. FGFR3 mutation causes abnormal membranous ossification in achondroplasia

3. Sustained phosphorylation of mutated FGFR3 is a crucial feature of genetic dwarfism and induces apoptosis in the ATDC5 chondrogenic cell line via PLCγ-activated STAT1

4. Analysis of STAT1 Activation by Six FGFR3 Mutants Associated with Skeletal Dysplasia Undermines Dominant Role of STAT1 in FGFR3 Signaling in Cartilage

5. Achondroplasia: pathogenesis and implications for future treatment

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