ArticleChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2012
Mouse models of Apert syndrome.
Article in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 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.
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Who cites it
9 citing papers in PubMed, 16 citations in OpenAlex.
- Unraveling the Complexity of Apert Syndrome: Genetics, Clinical Insights, and Future Frontiers.Cureus · 2023Review
- Cleft Palate in Apert Syndrome.Journal of developmental biology · 2022Review
- Article
- Cranial Neural Crest Cells and Their Role in the Pathogenesis of Craniofacial Anomalies and Coronal Craniosynostosis.Journal of developmental biology · 2020Review
- Choanal Atresia and Craniosynostosis: Development and Disease.Plastic and reconstructive surgery · 2018Review
- Understanding craniosynostosis as a growth disorder.Wiley interdisciplinary reviews. Developmental biology · 2016Review
- Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.Current genetic medicine reports · 2014Article
- The molecular and cellular basis of Apert syndrome.Intractable & rare diseases research · 2013Review
- Research advances in Apert syndrome.Journal of oral biology and craniofacial researchReview
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionApert syndrome is one of the more clinically distinct craniosynostosis syndromes in man. It is caused by gain-of-function mutations in FGFR2, over 98% of which are the two amino acid substitution mutations S252W and P253R. FGFR2 is widely expressed throughout development, so that many tissues are adversely affected in Apert syndrome, particularly the calvarial bones, which begin to fuse during embryonic development, and the brain. DISCUSSION: Mouse models of both of these two causative mutations and a third rare splice mutation have been created and display many of the phenotypes typical of Apert syndrome. The molecular and cellular mechanisms underlying Apert phenotypes have begun to be elucidated, and proof-of-principle treatment of these phenotypes by chemical inhibitor and gene-based therapies has been demonstrated.
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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.