ReviewIntractable & rare diseases research2013
The molecular and cellular basis of Apert syndrome.
Review in Intractable & rare diseases research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
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.
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, 2 syntheses or guidelines pooled it, 26 citations in OpenAlex.
- Insights and future directions of potential genetic therapy for Apert syndrome: A systematic review.Gene therapy · 2021Pooled it
- Dental approach for Apert syndrome in children: a systematic review.Medicina oral, patologia oral y cirugia bucal · 2017Pooled it
- Prenatal diagnosis of Apert syndrome caused by a de novo FGFR2 mutation in the second trimester: a case report.BMC pregnancy and childbirth · 2026Article
- The Impact of Genetics on Craniofacial Dysplasias and Consequent Oral Malformations-Integrative Review.Genes · 2026Review
- Insight into Apert Syndrome: Reporting on Six Patients and Increasing Awareness.Molecular neurobiology · 2025Article
- Fetal Corpus Callosum Anomalies: A Review of Underlying Genetic Disorders and Prenatal Testing Options.Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine · 2025Review
- Molecular Regulation of Palatogenesis and Clefting: An Integrative Analysis of Genetic, Epigenetic Networks, and Environmental Interactions.International journal of molecular sciences · 2025Review
- Unraveling the Complexity of Apert Syndrome: Genetics, Clinical Insights, and Future Frontiers.Cureus · 2023Review
- Integrated Systems Analysis Explores Dysfunctional Molecular Modules and Regulatory Factors in Children with Autism Spectrum Disorder.Journal of molecular neuroscience : MN · 2021Article
- Article
- Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis.Molecular genetics & genomic medicine · 2020Article
- Craniofacial malformations and their association with brain development: the importance of a multidisciplinary approach for treatment.Odontology · 2020Review
- Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report.Frontiers in genetics · 2018Article
- Two patients with Apert syndrome with different mutations: the importance of early diagnosis.Turk pediatri arsivi · 2017Article
- Research advances in Apert syndrome.Journal of oral biology and craniofacial researchReview
- Apert Syndrome: Dental management considerations and objectives.Journal of oral biology and craniofacial researchArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Apert syndrome (AS) is a rare genetic and congenital disease characterized by craniosynostosis and syndactly of hands and feet. AS patients generally require lifelong management, however there are still no effective treatment methods except surgery. In recent years, research has made great progress in the pathogenesis of AS. FGFR2 mediates extracellular signals into cells and the mutations in the FGFR2 gene cause AS occurrence. Activated FGFs/FGFR2 signaling disrupt the balance of cell proliferation, differentiation and apoptosis via its downstream signal pathways. However, how the pathways transform the balance is not well understood and contradictions have occurred in different studies. In this review, we'll focus on these problems to get a better understanding of AS pathogenesis.
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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.