ReviewInternational journal of biological sciences2019
Signaling Mechanisms Underlying Genetic Pathophysiology of Craniosynostosis.
Review in International journal of biological sciences, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Incremental yield of prenatal exome sequencing in fetuses with skeletal system abnormalities: A systematic review and meta-analysis.Acta obstetricia et gynecologica Scandinavica · 2025Pooled it
- When Virchow's law fails: Crouzon syndrome as a test case for quantitative suture closure-endocranial shape relationships.Journal of anatomy · 2026Article
- MEGF8 controls osteogenic differentiation through post-transcriptional regulation of BMP-SMAD signaling in craniosynostosis.Cell death and differentiation · 2026Article
- Prenatal diagnosis of Apert syndrome caused by a de novo FGFR2 mutation in the second trimester: a case report.BMC pregnancy and childbirth · 2026Article
- Spatiotemporal single-cell atlas of suture stem cell dynamics in craniosynostosis.Stem cell research & therapy · 2026Article
- Clinical and genetic features of syndromic craniosynostosis in 18 Chinese probands: novel candidate genes and phenotypes of known pathogenic genes.Frontiers in genetics · 2026Article
- Craniomaxillofacial-Derived MSCs in Congenital Defect Reconstruction.Biomolecules · 2025Review
- Non-syndromic craniosynostosis.Nature reviews. Disease primers · 2025Review
- Progress on the mechanism of Polycystin-1 in bone remodeling.Frontiers in cell and developmental biology · 2025Review
- Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape.Nature communications · 2023Review
- Association of gut microbiota composition and craniosynostosis.Translational pediatrics · 2023Article
- Retroperitoneal liposarcoma and craniosynostosis: possible genomic relationship, case report, and literature review.Functional & integrative genomics · 2022Review
- Endoscopic treatment of sagittal suture synostosis - a critical analysis of current management strategies.Neurosurgical review · 2022Review
- Case report: A novel truncating variant ofFrontiers in pediatrics · 2022Article
- Immunohistochemical Evaluation of BARX1, DLX4, FOXE1, HOXB3, and MSX2 in Nonsyndromic Cleft Affected Tissue.Acta medica Lituanic · 2022Article
- Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.European journal of human genetics : EJHG · 2021Article
- Polycystin-1 modulates RUNX2 activation and osteocalcin gene expression via ERK signalling in a human craniosynostosis cell model.Journal of cellular and molecular medicine · 2021Article
- FACEts of mechanical regulation in the morphogenesis of craniofacial structures.International journal of oral science · 2021Review
- The power of zebrafish models for understanding the co-occurrence of craniofacial and limb disorders.Genesis (New York, N.Y. : 2000) · 2021Review
- Molecular Mechanisms Involved in Craniosynostosis.In vivo (Athens, Greece)Review
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Craniosynostosis, is the premature fusion of one or more cranial sutures which is the second most common cranial facial anomalies. The premature cranial sutures leads to deformity of skull shape and restricts the growth of brain, which might elicit severe neurologic damage. Craniosynostosis exhibit close correlations with a varieties of syndromes. During the past two decades, as the appliance of high throughput DNA sequencing techniques, steady progresses has been made in identifying gene mutations in both syndromic and nonsyndromic cases, which allow researchers to better understanding the genetic roles in the development of cranial vault. As the enrichment of known mutations involved in the pathogenic of premature sutures fusion, multiple signaling pathways have been investigated to dissect the underlying mechanisms beneath the disease. In addition to genetic etiology, environment factors, especially mechanics, have also been proposed to have vital roles during the pathophysiological of craniosynostosis. However, the influence of mechanics factors in the cranial development remains largely unknown. In this review, we present a brief overview of the updated genetic mutations and environmental factors identified in both syndromic and nonsyndromic craniosynostosis. Furthermore, potential molecular signaling pathways and its relations have been described.
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