ReviewTherapeutic advances in endocrinology and metabolism2020
New perspectives on the treatment of skeletal dysplasia.
Review in Therapeutic advances in endocrinology and metabolism, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
What it found
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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.
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Who cites it
25 citing papers in PubMed, 47 citations in OpenAlex.
- Predicting Craniospinal Surgery in Pediatric Achondroplasia: Benchmarking Statistical Inference and Explainable AI Under Rare-Disease Constraints.Annals of biomedical engineering · 2026Article
- Pathways to enhancing prenatal diagnosis of skeletal dysplasias.Pregnancy (Hoboken, N.J.) · 2026Review
- A Novel HomozygousClinical case reports · 2026Article
- Consensus statement on the management of Achondroplasia in the Middle East.Frontiers in endocrinology · 2026Article
- NIMA-related kinase family at the nexus of skeletal development and congenital arthrogryposis: coordinated regulation of cell cycle and ciliary dynamics.Frontiers in genetics · 2026Review
- Clinical and molecular characterization of chondrodysplasias in a cohort of Egyptian patients.Scientific reports · 2025Article
- Molecular Consequences ofInternational journal of molecular sciences · 2025Article
- CANT1 Is Involved in Collagen Fibrogenesis in Tendons by Regulating the Synthesis of Dermatan/Chondroitin Sulfate Attached to the Decorin Core Protein.International journal of molecular sciences · 2025Article
- Fabrication of Hard Tissue Constructs from Induced Pluripotent Stem Cells for Exploring Mechanisms of Hereditary Tooth/Skeletal Dysplasia.International journal of molecular sciences · 2025Article
- Shape modeling of longitudinal medical images: from diffeomorphic metric mapping to deep learning.Frontiers in artificial intelligence · 2025Review
- SOST/Sclerostin impairs the osteogenesis and angiogesis in glucocorticoid-associated osteonecrosis of femoral head.Molecular medicine (Cambridge, Mass.) · 2024Article
- Cant1 Affects Cartilage Proteoglycan Properties: Aggrecan and Decorin Characterization in a Mouse Model of Desbuquois Dysplasia Type 1.Biomolecules · 2024Article
- Article
- Role of the NF-kB signalling pathway in heterotopic ossification: biological and therapeutic significance.Cell communication and signaling : CCS · 2024Review
- Role of gene interactions in the pathophysiology of skeletal dysplasias: A case report in Colombia.Journal, genetic engineering & biotechnology · 2024Article
- ROR2-Related Skeletal Dysplasia Reveals Disrupted Chondrocyte Polarity through Modulation of BMP/TGF-β Signaling.Aging and disease · 2024Article
- What the pediatric endocrinologist needs to know about skeletal dysplasia, a primer.Frontiers in pediatrics · 2023Review
- Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations.Orphanet journal of rare diseases · 2022Article
- Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood.Annals of pediatric endocrinology & metabolism · 2022Article
- The first European consensus on principles of management for achondroplasia.Orphanet journal of rare diseases · 2021Article
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 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The last few decades have been marked by the identification of numerous genes implicated in genetic disorders, helping in the elucidation of the underlying pathophysiology of these conditions. This has allowed new therapeutic approaches to emerge such as cellular therapy, gene therapy, or pharmacological therapy for various conditions. Skeletal dysplasias are good models to illustrate these scientific advances. Indeed, several therapeutic strategies are currently being investigated in osteogenesis imperfecta; there are ongoing clinical trials based on pharmacological approaches, targeting signaling pathways in achondroplasia and fibrodysplasia ossificans progressiva or the endoplasmic reticulum stress in metaphyseal dysplasia type Schmid or pseudoachondroplasia. Moreover, the treatment of hypophosphatasia or Morquio A disease illustrates the efficacy of enzyme drug replacement. To provide a highly specialized multidisciplinary approach, these treatments are managed by reference centers. The emergence of treatments in skeletal dysplasia provides new perspectives on the prognosis of these severe conditions and may change prenatal counseling in these diseases over the coming years.
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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 OpenQuestion graph.