ReviewDevelopmental dynamics : an official publication of the American Association of Anatomists2017
Achondroplasia: Development, pathogenesis, and therapy.
Review in Developmental dynamics : an official publication of the American Association of Anatomists, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 124 papers, 4 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
124 citing papers in PubMed, 4 syntheses or guidelines pooled it, 256 citations in OpenAlex.
- Pooled it
- Molecular and Genetic Mechanisms of Spinal Stenosis Formation: Systematic Review.International journal of molecular sciences · 2022Pooled it
- Birth prevalence of achondroplasia: A systematic literature review and meta-analysis.American journal of medical genetics. Part A · 2020Pooled it
- Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective.Hormone research in paediatrics · 2019Guideline
- Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature.European journal of human genetics : EJHG · 2019Trial
- Real-World Outcomes of Vosoritide Treatment in Chinese Children with Achondroplasia: The Retrospective Cohort COREV Study.Advances in therapy · 2026Observational
- Review
- Dosing challenges for chemotherapy and immunotherapy in congenital achondroplasia: a case report and literature review.Cancer chemotherapy and pharmacology · 2026Review
- Achondroplasia management in the era of targeted therapies: a meta-analysis of C-type natriuretic peptide analogs.Journal of the Endocrine Society · 2026Review
- Whole genome resequencing reveals the genetic basis of stature in short-statured Indian cattle.Scientific reports · 2026Article
- FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype.Clinical genetics · 2026Article
- Patient iPSC-Derived Cartilage Organoids Reveal Defective ECM Deposition and Altered Chondrogenic Trajectory in Saul-Wilson Syndrome.bioRxiv : the preprint server for biology · 2026Article
- Zebrafish gon4la mutants recapitulate human GON4L-related growth disorders and reveal novel metabolic organs abnormalities.Scientific reports · 2026Article
- Excess FGFR3 signaling in achondroplasia disrupts turnover of resting zone chondrocytes via CREB signaling.Nature communications · 2026Article
- Proteome-Wide Analysis of Functional Phosphosites in the FGFR Family of Proteins: Insights from Large-Scale Phosphoproteomic Analysis.Proteomes · 2026Article
- Spatiotemporal Regulation and Lineage Specification in Embryonic Endochondral Ossification.International journal of molecular sciences · 2026Review
- Qualitative Research in Children and Parents of Children with Achondroplasia to Evaluate the Content Validity of Multiple Clinical Outcome Assessments.Advances in therapy · 2026Article
- Real-World Safety and Effectiveness of Vosoritide in Children with Achondroplasia: French Early Access Program.Hormone research in paediatrics · 2026Article
- Consensus statement on the management of Achondroplasia in the Middle East.Frontiers in endocrinology · 2026Article
- Application of biodegradable implants in pediatric orthopedics: shifting from absorbable polymers to biodegradable metals.Bioactive materials · 2025Article
64 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in humans, and related chondrodysplasia syndromes that include hypochondroplasia (Hch), severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), and thanatophoric dysplasia (TD). FGFR3 is expressed in chondrocytes and mature osteoblasts where it functions to regulate bone growth. Analysis of the mutations in FGFR3 revealed increased signaling through a combination of mechanisms that include stabilization of the receptor, enhanced dimerization, and enhanced tyrosine kinase activity. Paradoxically, increased FGFR3 signaling profoundly suppresses proliferation and maturation of growth plate chondrocytes resulting in decreased growth plate size, reduced trabecular bone volume, and resulting decreased bone elongation. In this review, we discuss the molecular mechanisms that regulate growth plate chondrocytes, the pathogenesis of Ach, and therapeutic approaches that are being evaluated to improve endochondral bone growth in people with Ach and related conditions. Developmental Dynamics 246:291-309, 2017. © 2016 Wiley Periodicals, Inc.
Indexed as
Identifiers
What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.