Cited by 483Craniofacial Disorders and Treatmentsdental development and anomaliesBone Metabolism and Diseases

The DOI matches its Crossref record; 96 of the 96 references it cites were found in a registry or an index.

Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies

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Abstract

The mammalian skull vault is constructed principally from five bones: the paired frontals and parietals, and the unpaired interparietal. These bones abut at sutures, where most growth of the skull vault takes place. Sutural growth involves maintenance of a population of proliferating osteoprogenitor cells which differentiate into bone matrix‐secreting osteoblasts. Sustained function of the sutures as growth centres is essential for continuous expansion of the skull vault to accommodate the growing brain. Craniosynostosis, the premature fusion of the cranial sutures, occurs in 1 in 2500 children and often presents challenging clinical problems. Until a dozen years ago, little was known about the causes of craniosynostosis but the discovery of mutations in the MSX2 , FGFR1 , FGFR2 , FGFR3 , TWIST1 and EFNB1 genes in both syndromic and non‐syndromic cases has led to considerable insights into the aetiology, classification and developmental pathology of these disorders. Investigations of the biological roles of these genes in cranial development and growth have been carried out in normal and mutant mice, elucidating their individual and interdependent roles in normal sutures and in sutures undergoing synostosis. Mouse studies have also revealed a significant correspondence between the neural crest–mesoderm boundary in the early embryonic head and the position of cranial sutures, suggesting roles for tissue interaction in suture formation, including initiation of the signalling system that characterizes the functionally active suture.

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Crossref · 10.1111/j.1469-7580.2005.00475.x

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Research works printed but not linked: 4

  1. Cohen MM, 2000, Craniosynostosis, 112
  2. Corliss CE, 1976, Patten's Human Embryology
  3. Iseki S, 2005, Mouse skull vault bones grow by expanding of their primordia and Bmps are involved in this process, J Anat, 207
  4. Partanen J, Opposite phenotypes of hypomorphic and Y766 phosphorylation site mutations reveal a function for Fgfr1 in anteroposterior patterning of mouse embryos, Genes Dev, 12, 2332, 10.1101/gad.12.15.2332 · DOI

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Metadata

Authors
Morriss‐Kay, G. M., & Wilkie, A. O. M.
Affiliations
  • University of Oxford (GB)
  • John Radcliffe Hospital (GB)
Venue
Journal of Anatomy
Publisher
Wiley
Published
2005-11
Volume
207
Issue
5
Pages
637-653
ISSN
  • 0021-8782 (ISSN-L)
  • 1469-7580
OpenAlex
W1607201914
Cited by
483
References
96
Citations by year
2026: 15 · 2025: 14 · 2024: 24 · 2023: 24 · 2022: 22 · 2021: 26 · 2020: 20 · 2019: 19 · 2018: 28 · 2017: 30 · 2016: 26 · 2015: 28 · 2014: 28 · 2013: 31 · 2012: 27
FWCI
1.99
Type
journal article
Language
en
Open access
Locations
  • Journal of Anatomy (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
Funders
Wellcome Trust
Topics
  • Health Sciences › Medicine › Surgery › Craniofacial Disorders and Treatments
  • Health Sciences › Dentistry › General Dentistry › dental development and anomalies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bone Metabolism and Diseases
Keywords
craniosynostosis, cranial sutures, osteoprogenitor cells, osteogenic differentiation, FGFR1, FGFR2, FGFR3, Msx2, TWIST1, ephrin-B1, skull development, mouse model, syndromic craniosynostosis
MeSH terms
Animals, Cranial Sutures, Craniosynostoses, Genes, Homeobox, Humans, Mice, Mutant Strains, Morphogenesis, Mutation, Skull, Gene Expression Regulation, Developmental, Fetal Development, Mice

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