ReviewBone2021
RASopathies: The musculoskeletal consequences and their etiology and pathogenesis.
Review in Bone, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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
16 citing papers in PubMed, 26 citations in OpenAlex.
- Clinical and Genetic Characterization of Noonan Syndrome in a Colombian Pediatric CohortJournal of clinical research in pediatric endocrinology · 2026Observational
- Surgical treatment for neurofibromatosis type 1-related dystrophic scoliosis in children aged 8 to 11: traditional growing rod or posterior spinal fusion?BMC surgery · 2026Article
- Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants.Molecular syndromology · 2025Article
- PTPN11 in cartilage development, adult homeostasis, and diseases.Bone research · 2025Review
- Investigating the Impact of Circulating MicroRNAs on Knee and Hip Osteoarthritis: Causal Links, Biological Mechanisms, and Drug Interactions.International journal of molecular sciences · 2024Article
- Biomarker Landscape in RASopathies.International journal of molecular sciences · 2024Review
- The Surgical Management of Severe Scoliosis in Immature Patient with a Very Rare Disease Costello Syndrome-Clinical Example and Brief Literature Review.Life (Basel, Switzerland) · 2024Article
- Clinical Variability in a Family with Noonan Syndrome with a HomozygousJournal of clinical research in pediatric endocrinology · 2024Article
- Burosumab for the treatment of cutaneous-skeletal hypophosphatemia syndrome.Bone reports · 2024Article
- Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.Orphanet journal of rare diseases · 2023Article
- Icariin Promotes Osteogenic Differentiation in a Cell Model with NF1 Gene Knockout by Activating the cAMP/PKA/CREB Pathway.Molecules (Basel, Switzerland) · 2023Article
- Article
- Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes.Frontiers in endocrinology · 2023Review
- Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome.Genes, chromosomes & cancer · 2022Article
- Identifying Bone Matrix Impairments in a Mouse Model of Neurofibromatosis Type 1 (NF1) by Clinically Translatable Techniques.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Article
- Current Aspects on the Pathophysiology of Bone Metabolic Defects during Progression of Scoliosis in Neurofibromatosis Type 1.Journal of clinical medicine · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
The RASopathies comprise an ever-growing number of clinical syndromes resulting from germline mutations in components of the RAS/MAPK signaling pathway. While multiple organs and tissues may be affected by these mutations, this review will focus on how these mutations specifically impact the musculoskeletal system. Herein, we review the genetics and musculoskeletal phenotypes of these syndromes in humans. We discuss how mutations in the RASopathy syndromes have been studied in translational mouse models. Finally, we discuss how signaling molecules within the RAS/MAPK pathway are involved in normal and abnormal bone biology in the context of osteoblasts, osteoclasts and chondrocytes.
Indexed as
Identifiers
What OpenQuestion 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 OpenQuestion graph.