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
Open accessAbstract
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“The higher genetic load associated with coronal synostosis is likely to reflect the distinct embryological origin of the coronal suture, at the boundary between the developing frontal bone (neural crest origin) and parietal bone (cephalic mesoderm).8,40”
From Craniosynostosis (2011) · cites this paper as [40]
Experimental — accuracy not yet measuredThe check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“The incidence of single suture synostosis increased noticeable constant in recent years. Moreover, there is a dynamic change in the frequency of the different subtypes of this clinical picture at the same time [21–24].”
From Developments in diagnostic and surgical techniques in children with sagittal suture craniosynostosis: a systematic review spanning the last 30 years (2025) · cites this paper as [21]
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Receptor Specificity of the Fibroblast Growth Factor Family
Ornitz, D. M., Xu, J., Colvin, J. S., McEwen, D. G., MacArthur, C. A., Coulier, F., Gao, G., & Goldfarb, M. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.25.15292 · Cited by 1,871
Loeys, B., Chen, J., Neptune, E., Judge, D. P., Podowski, M., Holm, T. M., Meyers, J. L., Leitch, C. C., Katsanis, N., Sharifi, N., et al. (2005) · Nature Genetics · doi:10.1038/ng1511 · Cited by 1,786
Fate of the mammalian cranial neural crest during tooth and mandibular morphogenesis
Chai, Y., Jiang, X., Ito, Y., Bringas, P., Han, J., Rowitch, D. H., Soriano, P. M., McMahon, A. P., & Sucov, H. M. (2000) · Development · doi:10.1242/dev.127.8.1671 · Cited by 1,464
Structural and Functional Diversity in the FGf Receptor Multigene Family
Johnson, D. E., & Williams, L. T. (1992) · Advances in cancer research · doi:10.1016/s0065-230x(08)60821-0 · Cited by 1,254
Fate of the mammalian cardiac neural crest
Jiang, X., Rowitch, D. H., Soriano, P. M., McMahon, A. P., & Sucov, H. M. (2000) · Development · doi:10.1242/dev.127.8.1607 · Cited by 1,172
Evolution of the Fgf and Fgfr gene families.
Itoh, N., & Ornitz, D. (2004) · Trends in Genetics · doi:10.1016/j.tig.2004.08.007 · Cited by 1,123
Neural Crest Cells Contribute to Normal Aorticopulmonary Septation
Kirby, M. L., Gale, T. F., & Stewart, D. E. (1983) · Science · doi:10.1126/science.6844926 · Cited by 1,118
Fibroblast growth factor receptor 3 is a negative regulator of bone growth.
Deng, C.-X., Wynshaw-Boris, A., Zhou, F., Kuo, A., & Leder, P. (1996) · Cell · doi:10.1016/s0092-8674(00)81069-7 · Cited by 1,095
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
Wilkie, A. O. M., Slaney, S. F., Oldridge, M., Poole, M. D., Ashworth, G. J., Hockley, A. D., Hayward, R. D., David, D. J., Pulleyn, L. J., Rutland, P., et al. (1995) · Nature Genetics · doi:10.1038/ng0295-165 · Cited by 935
Self-citationSkeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3
Colvin, J. S., Bohne, B. A., Harding, G. W., McEwen, D. G., & Ornitz, D. M. (1996) · Nature Genetics · doi:10.1038/ng0496-390 · Cited by 868
Research works printed but not linked: 4
- Cohen MM, 2000, Craniosynostosis, 112
- Corliss CE, 1976, Patten's Human Embryology
- Iseki S, 2005, Mouse skull vault bones grow by expanding of their primordia and Bmps are involved in this process, J Anat, 207
- 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
Cited by
Sorted by citations
Recent advances in craniofacial morphogenesis
Chai, Y., & Maxson, R. E. (2006) · Developmental Dynamics · doi:10.1002/dvdy.20833 · Cited by 610
Johnson, D., & Wilkie, A. O. M. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.235 · Cited by 499
Self-citationPrevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis
Wilkie, A. O. M., Byren, J. C., Hurst, J. A., Jayamohan, J., Johnson, D., Knight, S. J. L., Lester, T., Richards, P. G., Twigg, S. R. F., & Wall, S. A. (2010) · Pediatrics · doi:10.1542/peds.2009-3491 · Cited by 297
Self-citationFGF23 and its role in X-linked hypophosphatemia-related morbidity
Beck‐Nielsen, S. S., Zulf Mughal, M., Haffner, D., Nilsson, O., Levtchenko, E. N., Ariceta, G., Collantes, C. D. L., Schnabel, D., Jandhyala, R., & Mäkitie, O. (2019) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-019-1014-8 · Cited by 295
A Genetic-Pathophysiological Framework for Craniosynostosis
Twigg, S. R. F., & Wilkie, A. O. M. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.07.006 · Cited by 276
“The other major vault sutures (metopic, sagittal, lambdoid; Figure 1B) are anatomically more simple, being formed when initially distant bone fronts approximate each other later in embryonic development.(4,53)”
BackgroundSelf-citationJenkins, D., Seelow, D., Jehee, F. S., Perlyn, C. A., Alonso, L. G., Bueno, D. F., Donnai, D., Josifiova, D., Mathijssen, I. M. J., Morton, J. E. V., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/518047 · Cited by 276
Self-citationStem cells of the suture mesenchyme in craniofacial bone development, repair and regeneration
Maruyama, T., Jeong, J., Sheu, T., & Hsu, W. (2016) · Nature Communications · doi:10.1038/ncomms10526 · Cited by 258
Hand in glove: brain and skull in development and dysmorphogenesis
Richtsmeier, J. T., & Flaherty, K. (2013) · Acta Neuropathologica · doi:10.1007/s00401-013-1104-y · Cited by 264
“Differentiation of osteoblasts and bone deposition (growth) of the ossification front at the sutural edge is thought to be regulated by signaling interactions between the mesenchyme, the osteogenic fronts, and the dura mater [31, 102, 106, 115, 151].”
BackgroundCranial Sutures: A Brief Review
Slater, B. J., Lenton, K. A., Kwan, M. D., Gupta, D. M., Wan, D. C., & Longaker, M. T. (2008) · Plastic & Reconstructive Surgery · doi:10.1097/01.prs.0000304441.99483.97 · Cited by 238
Skeletogenic Fate of Zebrafish Cranial and Trunk Neural Crest
Kague, É., Gallagher, M. D., Burke, S., Parsons, M. J., Franz‐Odendaal, T. A., & Fisher, S. (2012) · PLoS ONE · doi:10.1371/journal.pone.0047394 · Cited by 234
Mathijssen, I. M. J. (2015) · Journal of Craniofacial Surgery · doi:10.1097/scs.0000000000002016 · Cited by 232
“Mutations are most frequent in FGFR2, followed by FGFR3 and TWIST, and least frequent in FGFR1 and EFNB1.(52,53) In Rotterdam, DNA testing of the FGFR1, 2, 3, and TWIST genes was performed during several years in all patients with a craniosynostosis, except those with an isolated scaphocephaly.”
BackgroundCraniosynostosis - Recognition, clinical characteristics, and treatment
Kajdic, N., Spazzapan, P., & Velnar, T. (2017) · Bosnian Journal of Basic Medical Sciences · doi:10.17305/bjbms.2017.2083 · Cited by 213
“This complex signaling cascade can be disrupted by a large number of genetic mutations, leading to an abnormal development of the cranial sutures [9-14].”
BackgroundJacob, A. L., Smith, C. S., Partanen, J., & Ornitz, D. (2006) · Developmental Biology · doi:10.1016/j.ydbio.2006.05.031 · Cited by 212
“Mutations in FGFRs account for many of the craniosynostosis and chondrodysplasia syndromes in humans (Chen and Deng, 2005; Morriss-Kay and Wilkie, 2005; Ornitz, 2005; Ornitz and Marie, 2002).”
BackgroundNieminen, P., Morgan, N. V., Fenwick, A. L., Parmanen, S., Veistinen, L., Mikkola, M. L., van der Spek, P. J., Giraud, A. S., Judd, L. M., Arte, S., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.05.024 · Cited by 200
“At the cellular level, the mutations affect the border recognition between neural crestand mesoderm-derived mesenchymal cells or lead to accelerated proliferation of the osteoblast precursors or to their premature differentiation into osteoblasts.(1) Supernumerary tooth formation typically involves only one or a few e…”
Self-citationGunz, P., Neubauer, S., Golovanova, L., Doronichev, V., Maureille, B., & Hublin, J.-J. (2012) · Journal of Human Evolution · doi:10.1016/j.jhevol.2011.11.013 · Cited by 197
Laue, K., Pogoda, H.-M., Daniel, P. B., van Haeringen, A., Alanay, Y., von Ameln, S., Rachwalski, M., Morgan, T., Gray, M. J., Breuning, M. H., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.09.015 · Cited by 188
“Functional relationships between RA/Cyp26b1 and other factors implicated in cranial suture patency are likely.(35) Antley-Bixler syndrome (ABS [MIM 201750]) is”
BackgroundTrainor, P. A. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33454 · Cited by 188
Panupinthu, N., Rogers, J. T., Zhao, L., Solano-Flores, L. P., Possmayer, F., Sims, S. M., & Dixon, S. J. (2008) · The Journal of Cell Biology · doi:10.1083/jcb.200708037 · Cited by 175
“…promote osteogenesis in vivo and in vitro Mesenchymal cells within cranial sutures proliferate and differentiate to sustain the osteoblast population and form new bone ( Morriss-Kay and Wilkie, 2005 ), processes which are stimulated at least in part by mechanical tension ( Hou et al., 2007 ).”
BackgroundThe development of the neural crest in the human
O’Rahilly, R., & Müller, F. (2007) · Journal of Anatomy · doi:10.1111/j.1469-7580.2007.00773.x · Cited by 174
Brain ontogeny and life history in Pleistocene hominins
Hublin, J.-J., Neubauer, S., & Gunz, P. (2015) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2014.0062 · Cited by 173
Twigg, S. R. F., Vorgia, E., McGowan, S. J., Peraki, I., Fenwick, A. L., Sharma, V., Allégra, M., Ζαραγκούλιας, Α., Akha, E. S., Knight, S. J. L., et al. (2013) · Nature Genetics · doi:10.1038/ng.2539 · Cited by 173
Self-citationGenetics of Craniosynostosis: Genes, Syndromes, Mutations and Genotype-Phenotype Correlations
Passos‐Bueno, M. R., Sertie, A. L., Jehee, F. S., Fanganiello, R. D., & Yeh, E. (2008) · Frontiers of oral physiology/Frontiers of oral biology · doi:10.1159/000115035 · Cited by 163
Lieberman, D. E., Hallgrímsson, B., Liu, W., Parsons, T. E., & Jamniczky, H. A. (2008) · Journal of Anatomy · doi:10.1111/j.1469-7580.2008.00900.x · Cited by 162
Cranial Suture Regeneration Mitigates Skull and Neurocognitive Defects in Craniosynostosis
Yu, M., Ma, L., Yuan, Y., Ye, X., Montagne, A., He, J., Ho, T., Wu, Y., Zhao, Z., Maria, N. S. S., et al. (2021) · Cell · doi:10.1016/j.cell.2020.11.037 · Cited by 159
“This causes abnormal skull growth, increased intracranial pressure (ICP), delayed brain development, and often impaired cognitive functions (Morriss-Kay and Wilkie, 2005; Twigg and Wilkie, 2015).”
BackgroundThe Neanderthal “chignon”: Variation, integration, and homology
Gunz, P., & Harvati, K. (2006) · Journal of Human Evolution · doi:10.1016/j.jhevol.2006.08.010 · Cited by 162
“If a suture ossifies prematurely during times of rapid brain expansion, this often leads to compensatory growth, both in other sutures and by remodeling of other parts of the skull (Morriss-Kay and Wilkie, 2005).”
BackgroundSyndromic craniosynostosis: from history to hydrogen bonds
Cunningham, M., Seto, M., Ratisoontorn, C., Heike, C. L., & Hing, A. (2007) · Orthodontics and Craniofacial Research · doi:10.1111/j.1601-6343.2007.00389.x · Cited by 156
Hung, I. H., Yu, K., Lavine, K. J., & Ornitz, D. M. (2007) · Developmental Biology · doi:10.1016/j.ydbio.2007.04.048 · Cited by 160
“Various craniosynostosis syndromes are caused by activating mutations in FGFR1 – 3 and result in premature fusion of the cranial sutures (Britto et al., 2001; Cohen, 2000; Morriss-Kay and Wilkie, 2005; Wilkie, 1997, 2000).”
BackgroundBiomineralization in Humans: Making the Hard Choices in Life
Kawasaki, K., Buchanan, A. V., & Weiss, K. M. (2009) · Annual Review of Genetics · doi:10.1146/annurev-genet-102108-134242 · Cited by 157
The morphology of the mouse masticatory musculature
Baverstock, H., Jeffery, N. S., & Cobb, S. N. (2013) · Journal of Anatomy · doi:10.1111/joa.12059 · Cited by 146
“…have employed the mouse in studies of craniofacial morphological development and variation (Leamy, 1993; Christian Peter, 2002; Byron et al. 2004; Morriss-Kay & Wilkie, 2005; Willmore et al. 2006a; Vecchione et al. 2007; Boughner et al. 2008; Hallgrimsson & Lieberman, 2008; Lieberman et al.…”
MethodMorphological Differences in the Parietal Lobes within the Human Genus
Bruner, E. (2010) · Current Anthropology · doi:10.1086/650729 · Cited by 144
“More interestingly, some areas are mesodermal in origin (such as the parietal bones), while others come from the neural crests (such as the frontal bones; Jiang et al. 2002; Morriss-Kay and Wilkie 2005).”
BackgroundRaucci, A., Bellosta, P., Grassi, R., Basilico, C., & Mansukhani, A. (2007) · Journal of Cellular Physiology · doi:10.1002/jcp.21323 · Cited by 142
Nopoulos, P., Aylward, E., Ross, C. A., Mills, J. A., Langbehn, D. R., Johnson, H. J., Magnotta, V. A., Pierson, R. K., Beglinger, L. J., NANCE, M. A., et al. (2010) · Brain · doi:10.1093/brain/awq280 · Cited by 142
The Role of NELL-1, a Growth Factor Associated with Craniosynostosis, in Promoting Bone Regeneration
Zhang, X., Zara, J. N., Siu, R. K., Ting, K., & Soo, C. B. (2010) · Journal of Dental Research · doi:10.1177/0022034510376401 · Cited by 130
“…related to high Nell-1 expression levels in brain tissue, but it is worth reiterating that E14 is a critical time-point for osteogenesis of the calvarial bone plates (Ogle et al., 2004; Morriss-Kay and Wilkie, 2005), and thus Nell-1 may be required at higher levels than it would be at later stages.”
BackgroundGenetic advances in craniosynostosis
Lattanzi, W., Barba, M., Di Pietro, L., & Boyadjiev, S. A. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38159 · Cited by 129
“During that period, the cells within the suture must proliferate without differentiating to maintain patency while those at the bone margins differentiate to ensure growth (Lana-Elola, Rice, Grigoriadis, & Rice, 2007; Morriss-Kay & Wilkie, 2005).”
BackgroundA review of the management of single-suture craniosynostosis, past, present, and future
Proctor, M. R., & Meara, J. G. (2019) · Journal of Neurosurgery Pediatrics · doi:10.3171/2019.7.peds18585 · Cited by 126
Understanding craniosynostosis as a growth disorder
Flaherty, K., Singh, N., & Richtsmeier, J. T. (2016) · Wiley Interdisciplinary Reviews Developmental Biology · doi:10.1002/wdev.227 · Cited by 131
“, the orientation of the sagittal suture is anteroposterior, so growth local to this suture increases the mediolateral dimension of the skull) and continues throughout brain growth.(72,73) Although bone is added at the osteogenic fronts contributing to size increase, cranial vault bones continually adjust their shape…”
BackgroundResultInfluentialDiagnostic value of exome and whole genome sequencing in craniosynostosis
Miller, K. A., Twigg, S. R. F., McGowan, S. J., Phipps, J. M., Fenwick, A. L., Johnson, D., Wall, S. A., Noons, P., Rees, K. E. M., Tidey, E. A., et al. (2016) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-104215 · Cited by 121
Self-citationVisualizing the lateral somitic frontier in the Prx1Cre transgenic mouse
Durland, J. L., Sferlazzo, M., Logan, M. P. O., & Burke, A. C. (2008) · Journal of Anatomy · doi:10.1111/j.1469-7580.2008.00879.x · Cited by 118
“…have been revealed in the head and neck of avian and mouse embryos, for example the boundary between neural crest and cranial mesoderm cell lineages (Morriss-Kay & Wilkie, 2005; Evans & Noden, 2006), and neural crest and mesoderm lineages in the cervical and shoulder region (Matsuoka et al. 2005).”
BackgroundA multi-omic atlas of human embryonic skeletal development
To, K., Fei, L., Pett, J. P., Roberts, K., Blain, R., Polański, K., Li, T., Yayon, N., He, P., Xu, C., et al. (2024) · Nature · doi:10.1038/s41586-024-08189-z · Cited by 123
Neural crest cell signaling pathways critical to cranial bone development and pathology
Mishina, Y., & Snider, T. N. (2014) · Experimental Cell Research · doi:10.1016/j.yexcr.2014.01.019 · Cited by 114
“Premature fusion of sutures causes a pathological condition called craniosynostosis resulting in increased intracranial pressure and skull deformity [31,32].”
The clinical manifestations, molecular mechanisms and treatment of craniosynostosis
Stanton, E. W., Urata, M. M., Chen, J.-F., & Chai, Y. (2022) · Disease Models & Mechanisms · doi:10.1242/dmm.049390 · Cited by 117
Developmental Anatomy of Craniofacial Sutures
Rice, D. P. C. (2008) · Frontiers of oral physiology/Frontiers of oral biology · doi:10.1159/000115028 · Cited by 110
Fibroblast growth factor expression during skeletal fracture healing in mice
Schmid, G. J., Kobayashi, C., Sandell, L. J., & Ornitz, D. M. (2009) · Developmental Dynamics · doi:10.1002/dvdy.21882 · Cited by 113
Early onset of craniosynostosis in an Apert mouse model reveals critical features of this pathology
Holmes, G., Rothschild, G., Roy, U. B., Deng, C.-X., Mansukhani, A., & Basilico, C. (2009) · Developmental Biology · doi:10.1016/j.ydbio.2009.01.026 · Cited by 104
“It is hypothesized that FGF signals drive the progress of the OFs, and that suture patency is controlled, at least in part, by the influence of an FGF gradient on the balance between osteoblast proliferation and differentiation, with aberrant FGF signaling triggering a switch from Fgfr2 expression and proliferation to…”
InfluentialCraniofacial Development: Neural Crest in Molecular Embryology
Roth, D. M., Bayona, F., Baddam, P., & Graf, D. (2021) · Head and Neck Pathology · doi:10.1007/s12105-021-01301-z · Cited by 119
The developing mouse coronal suture at single-cell resolution
Farmer, D. T., Mlčochová, H., Zhou, Y., Koelling, N., Wang, G., Ashley, N., Bugacov, H., Chen, H.-J., Parvez, R. K., Tseng, K.-C., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-24917-9 · Cited by 107
Self-citationEarly Brain Vulnerability in Wolfram Syndrome
Hershey, T. G., Lugar, H. M., Shimony, J. S., Rutlin, J. R., Koller, J. M., Perantie, D. C., Paciorkowski, A. R., Eisenstein, S. A., & Permutt, M. A. (2012) · PLoS ONE · doi:10.1371/journal.pone.0040604 · Cited by 108
“The major expansion of the cranial vault is driven by brain growth early in childhood until all of the cranial sutures fuse (around age 6), at which point ICV changes only very slowly [67,68].”
BackgroundAugmentation of smad-dependent BMP signaling in neural crest cells causes craniosynostosis in mice
Komatsu, Y., Yu, P. B., Kamiya, N., Pan, H., Fukuda, T., Scott, G. J., Ray, M. K., Yamamura, K., & Mishina, Y. M. (2012) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.1857 · Cited by 106
“Craniosynostosis, a syndrome of premature fusion of cranial sutures, affects 1 in 2500 live births.((1,2)) This condition results in facial deformity and restricted brain growth, with challenging clinical management that often requires multiple corrective surgeries.”
BackgroundInfluentialClinical dividends from the molecular genetic diagnosis of craniosynostosis
Wilkie, A. O. M., Bochukova, E. G., Hansen, R. M. S., Taylor, I. B., Rannan‐Eliya, S. V., Byren, J. C., Wall, S. A., Ramos, L. M., Venâncio, M., Hurst, J. A., et al. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31366 · Cited by 105
Self-citationCopy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis
Klopocki, E., Lohan, S., Brancati, F., Koll, R., Brehm, A., Seemann, P., Dathe, K., Stricker, S., Hecht, J., Bosse, K., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.11.006 · Cited by 104
Unravelling the molecular control of calvarial suture fusion in children with craniosynostosis
Coussens, A. K., Wilkinson, C. R., Hughes, I. P., Morris, C. P., van Daal, A., Anderson, P. J., & Powell, B. C. (2007) · BMC Genomics · doi:10.1186/1471-2164-8-458 · Cited by 104
“This feature of the metopic suture may be explained by the finding in rodents that the frontal suture (equivalent to the metopic suture in humans) is populated by neural crest derived mesenchyme and separates the frontal bones, also of neural crest origin, while the other sutures are a juxtaposition of neural crest an…”
BackgroundDeckelbaum, R. A., Holmes, G., Zhao, Z., Tong, C., Basilico, C., & Loomis, C. A. (2012) · Development · doi:10.1242/dev.076729 · Cited by 100
Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses
Heuzé, Y., Holmes, G. H., Peter, I., Richtsmeier, J. T., & Jabs, E. W. (2014) · Current Genetic Medicine Reports · doi:10.1007/s40142-014-0042-x · Cited by 99
“Over the last two decades, the search for genetic mutations underlying NSC has focused on ‘‘hotspots’’ of genes that are known to cause syndromic craniosynostosis [21].”
BackgroundArts, S., Delye, H., & van Lindert, E. J. (2017) · Journal of Neurosurgery Pediatrics · doi:10.3171/2017.7.peds17155 · Cited by 101
Jin, L., Nam, H. K., Campbell, C. R., Gasque, K. C. D. S., Millán, J. L., & Hatch, N. E. (2014) · Bone · doi:10.1016/j.bone.2014.06.040 · Cited by 99
“Whilemilder formsof craniosynostosismay only involve abnormal skull and/or facial shapes, more severe forms can lead to high intracranial pressure, airway impairments, brain abnormalities, blindness, deafness, seizures anddeath [23–32].”
BackgroundThe Development of the Calvarial Bones and Sutures and the Pathophysiology of Craniosynostosis
Ishii, M., Sun, J., Ting, M.-C., & Maxson, R. E. (2015) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/bs.ctdb.2015.07.004 · Cited by 95
Nakamura, T., Gulick, J. M., Pratt, R., & Robbins, J. M. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0903302106 · Cited by 94
“If premature fusion or craniosynostosis occurs at any 1 of the 6 sutures in the human skull, developmental problems may result (5, 16, 17).”
BackgroundOsterix/Sp7 limits cranial bone initiation sites and is required for formation of sutures
Kague, É., Roy, P. R., Asselin, G., Hu, G. B., Simonet, J. C., Stanley, A. K., Albertson, R. C., & Fisher, S. (2016) · Developmental Biology · doi:10.1016/j.ydbio.2016.03.011 · Cited by 92
“It is generally thought that mutations that accelerate osteoblast differentiation lead to craniosynostosis, while those that delay differentiation are associated with delayed bone growth and open fontenelles (Morriss-Kay and Wilkie, 2005).”
BackgroundMicro-CT for Biological and Biomedical Studies: A Comparison of Imaging Techniques
Keklikoglou, K., Arvanitidis, C., Chatzigeorgiou, G., Chatzinikolaou, E., Karagiannidis, E., Κoletsa, T., Magoulas, A., Makris, K., Mavrothalassitis, G., Papanagnou, E., et al. (2021) · Journal of Imaging · doi:10.3390/jimaging7090172 · Cited by 92
“Craniosynostosis, the premature ossification of the cranial sutures, is a potentially lethal disease affecting approximately 1 in 2500 newborns [99].”
BackgroundInterpretation of skeletal variations for human risk assessment: delayed ossification and wavy ribs
Carney, E. W., & Kimmel, C. A. (2007) · Birth Defects Research Part B Developmental and Reproductive Toxicology · doi:10.1002/bdrb.20133 · Cited by 92
Roybal, P. G., Wu, N. L., Sun, J., Ting, M.-C., Schafer, C. A., & Maxson, R. E. (2010) · Developmental Biology · doi:10.1016/j.ydbio.2010.04.007 · Cited by 89
“…skull is a complex and as yet poorly understood process that involves an exquisitely controlled series of migratory and proliferative events, as well as the specification and differentiation of osteogenic and chondrogenic cells among others (Chai and Maxson, 2006; Morriss-Kay and Wilkie, 2005).”
BackgroundInsights into Morphology and Disease from the Dog Genome Project
Schoenebeck, J. J., & Ostrander, E. A. (2014) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev-cellbio-100913-012927 · Cited by 89
“Approximately 80% of craniosynostosis cases are nonsyndromic, and estimates suggest that only 28% of cases can be assigned a genetic diagnosis ( Justice et al. 2012, Morriss-Kay & Wilkie 2005).”
BackgroundFunctional craniology and brain evolution: from paleontology to biomedicine
Bruner, E., de la Cuétara, J. M., Masters, M., Amano, H., & Ogihara, N. (2014) · Frontiers in Neuroanatomy · doi:10.3389/fnana.2014.00019 · Cited by 87
Clinical dividends from the molecular genetic diagnosis of craniosynostosis†
Wilkie, A. O. M., Bochukova, E. G., Hansen, R. M. S., Taylor, I. B., Rannan‐Eliya, S. V., Byren, J. C., Wall, S. A., Ramos, L. M., Venâncio, M., Hurst, J. A., et al. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31905 · Cited by 87
Self-citationVora, S. R., Camci, E. D., & Cox, T. C. (2016) · Frontiers in Physiology · doi:10.3389/fphys.2015.00417 · Cited by 83
“…on the cranial vault and specifically the calvarial sutures as their premature fusion, termed craniosynostosis, is a relatively common presentation in the pediatric population (∼1 in 2500 live births) and is associated with significant cranioskeletal deformity (Morriss-Kay and Wilkie, 2005).”
BackgroundActivation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2+P253R mice
Wang, Y., Sun, M., Uhlhorn, V. L., Zhou, X., Peter, I., Martínez‐Abadías, N., Hill, C. A., Percival, C. J., Richtsmeier, J. T., Huso, D. L., et al. (2010) · BMC Developmental Biology · doi:10.1186/1471-213x-10-22 · Cited by 83
“The cellular mechanisms underlying craniosynostosis have been investigated using other mouse models [47,48].”
BackgroundImpact of genetics on the diagnosis and clinical management of syndromic craniosynostoses
Agochukwu, N. B., Solomon, B. D., & Muenke, M. (2012) · Child s Nervous System · doi:10.1007/s00381-012-1756-2 · Cited by 85
“With the genetic testing available today, a genetic cause can be identified for 45 % of patients with craniosynostosis [56, 72, 106].”
BackgroundSkeletal analysis of the Fgfr3P244R mouse, a genetic model for the Muenke craniosynostosis syndrome
Twigg, S. R. F., Healy, C., Babbs, C., Sharpe, J. A., Wood, W. G., Sharpe, P. T., Morriss‐Kay, G. M., & Wilkie, A. O. M. (2008) · Developmental Dynamics · doi:10.1002/dvdy.21790 · Cited by 85
Self-citationPrx1 and 3.2kb Col1a1 promoters target distinct bone cell populations in transgenic mice
Ouyang, Z., Chen, Z., Ishikawa, M., Yue, X., Kawanami, A., Leahy, P. S., Greenfield, E. M., & Murakami, S. (2013) · Bone · doi:10.1016/j.bone.2013.10.016 · Cited by 82
“Cranial bones grow by the apposition of bone tissue at the cranial suture [27].”
BackgroundThe Intertwined Evolution and Development of Sutures and Cranial Morphology
White, H., Goswami, A., & Tucker, A. S. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.653579 · Cited by 80
“For example, the sagittal and interfrontal sutures develop at the midline between the cerebral hemispheres and olfactory lobes and the lambdoid suture develops between the cerebral hemispheres and the cerebellum (Morriss-Kay and Wilkie, 2005).”
BackgroundMechanism of skull suture maintenance and interdigitation
Miura, T., Perlyn, C. A., Kinboshi, M., Ogihara, N., Kobayashi‐Miura, M., Morriss‐Kay, G. M., & Shiota, K. (2009) · Journal of Anatomy · doi:10.1111/j.1469-7580.2009.01148.x · Cited by 81
“Premature fusion of the skull bones causes clinical problems because it prevents the normal expansion of the skull that is required to accommodate the growing brain (Cohen & MacLean, 2000; Morriss-Kay & Wilkie, 2005).”
BackgroundSelf-citationBehr, B., Longaker, M. T., & Quarto, N. (2010) · Developmental Biology · doi:10.1016/j.ydbio.2010.06.009 · Cited by 80
“Among these cases, the FGFR3 related Muenke syndrome is the most common one, followed by the TWIST related Saethre–Chotzen syndrome (Morriss-Kay and Wilkie, 2005).”
BackgroundModelling human skull growth: a validated computational model
Libby, J., Marghoub, A., Johnson, D., Khonsari, R. H., Fagan, M. J., & Moazen, M. (2017) · Journal of The Royal Society Interface · doi:10.1098/rsif.2017.0202 · Cited by 80
“It is widely accepted that various genetic and epigenetic factors regulate bone formation at the sutures [3-5], with one of the key driving factors for skull growth being provided by the rapidly expanding brain [6-8].”
Reconsidering the evolution of brain, cognition, and behavior in birds and mammals
Willemet, R. (2013) · Frontiers in Psychology · doi:10.3389/fpsyg.2013.00396 · Cited by 83
Cranial shape and size variation in human evolution: structural and functional perspectives
Bruner, E. (2007) · Child s Nervous System · doi:10.1007/s00381-007-0434-2 · Cited by 79
“Interestingly, because of the impossibility of using a similar experimental approach on the human cranial matrix, relevant evidence comes from the artificial cranial deformations deriving from cultural and ethnic practices or from the craniosynostotic individuals [4, 5, 33, 47, 49].”
BackgroundCrouzon with acanthosis nigricans. Further delineation of the syndrome
Arnaud-Lopez, L., Fragoso, R., Mantilla-Capacho, J. M., & Barros‐Núñez, P. (2007) · Clinical Genetics · doi:10.1111/j.1399-0004.2007.00884.x · Cited by 78
“Marked mental retardation (MR) has been described in CS patients (21), and some authors have postulated that MR, associated with craniosynostosis, may be caused by physical damage or malformation of the primary brain (22).”
BackgroundPredicting Skull Loading: Applying Multibody Dynamics Analysis to a Macaque Skull
Curtis, N., Kupczik, K., O’Higgins, P., Moazen, M., & Fagan, M. J. (2008) · The Anatomical Record · doi:10.1002/ar.20689 · Cited by 76
Yen, H.-Y., Ting, M.-C., & Maxson, R. E. (2010) · Developmental Biology · doi:10.1016/j.ydbio.2010.08.010 · Cited by 75
“Each is known to function during osteogenic differentiation and has been implicated in craniosynostosis (Morriss-Kay and Wilkie, 2005).”
BackgroundSenarath-Yapa, K., Chung, M. T., McArdle, A., Wong, V., Quarto, N., Longaker, M. T., & Wan, D. C. (2012) · Organogenesis · doi:10.4161/org.23307 · Cited by 75
“Importantly, while suture mesenchyme from PF, SAG, and coronal sutures all share a common neural crest origin, only the PF suture in mice and rats fuses in a predictable manner.(3,19)”
Cellular dynamics and tissue interactions of the dura mater during head development
Gagan, J., Tholpady, S. S., & Ogle, R. C. (2007) · Birth Defects Research Part C Embryo Today Reviews · doi:10.1002/bdrc.20104 · Cited by 74
Holmes, G., Gonzalez-Reiche, A. S., Lü, N., Zhou, X., Rivera, J., Kriti, D., Sebra, R., Williams, A. A., Donovan, M. J., Potter, S. S., et al. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.107871 · Cited by 70
Evaluation of the infant with an abnormal skull shape
Cunningham, M. L., & Heike, C. L. (2007) · Current Opinion in Pediatrics · doi:10.1097/mop.0b013e3282f1581a · Cited by 72
The origin of the stapes and relationship to the otic capsule and oval window
Thompson, H., Ohazama, A., Sharpe, P. T., & Tucker, A. S. (2012) · Developmental Dynamics · doi:10.1002/dvdy.23831 · Cited by 71
Heuzé, Y., Boyadjiev, S. A., Marsh, J. L., Kane, A. A., Cherkez, E., Boggan, J. E., & Richtsmeier, J. T. (2010) · Journal of Anatomy · doi:10.1111/j.1469-7580.2010.01258.x · Cited by 73
“…craniosynostosis syndromes (Apert, Crouzon, Pfeiffer, and Saethre-Chotzen syndromes) (Muenke et al. 1994; Hollway et al. 1997), but a role for these genes in NSC has not yet been identified (Sakai et al. 2001; Boyadjiev et al. 2002; Zeiger et al. 2002; Morriss-Kay & Wilkie, 2005; Boyadjiev, 2007).”
BackgroundHolmes, G., & Basilico, C. (2012) · Developmental Biology · doi:10.1016/j.ydbio.2012.05.026 · Cited by 68
Heterochrony and patterns of cranial suture closure in hystricognath rodents
Wilson, L. A. B., & Sánchez-Villagra, M. R. (2009) · Journal of Anatomy · doi:10.1111/j.1469-7580.2008.01031.x · Cited by 68
“Sutures maintain an approximately similar width, whereas the cranial vault expands to accommodate the developing brain (Opperman, 2000; Morriss-Kay & Wilkie, 2005).”
BackgroundCranial sutures work collectively to distribute strain throughout the reptile skull
Curtis, N., Jones, M. E. H., Evans, S. E., O’Higgins, P., & Fagan, M. J. (2013) · Journal of The Royal Society Interface · doi:10.1098/rsif.2013.0442 · Cited by 67
“Sutures are sites of appositional bone growth [4,6,9–12] and are crucial in the developing skull, where their premature fusion can lead to abnormal growth [13–18].”
BackgroundCalvarial Versus Long Bone: Implications for Tailoring Skeletal Tissue Engineering
Wang, D. M., Gilbert, J. R., Zhang, X., Zhao, B., Ker, D. F. E., & Cooper, G. M. (2019) · Tissue Engineering Part B Reviews · doi:10.1089/ten.teb.2018.0353 · Cited by 72
“95 In addition to its roles mentioned above, sutures also serve as future sites for intramembranous bone growth.”
Skeletal stem and progenitor cells maintain cranial suture patency and prevent craniosynostosis
Menon, S., Salhotra, A., Shailendra, S., Tevlin, R., Ransom, R. C., Januszyk, M., Chan, C. K. F., Behr, B., Wan, D. C., Longaker, M. T., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-24801-6 · Cited by 66
Paumard‐Hernández, B., Berges‐Soria, J., Barroso, E., Rivera-Pedroza, C. I., Pérez‐Carrizosa, V., Benito‐Sanz, S., López-Messa, E., Santos, F., García‐Recuero, I., Romance, A. I., et al. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.205 · Cited by 65
Schmidt, M. J., Kampschulte, M., Enderlein, S., Gorgas, D., Lang, J., Ludewig, E., Fischer, A., Meyer‐Lindenberg, A., Schaubmar, A. R., Failing, K., et al. (2017) · Journal of Veterinary Internal Medicine · doi:10.1111/jvim.14805 · Cited by 65
Kallmann’s syndrome, a neuronal migration defect
Cariboni, A., & Maggi, R. (2006) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-005-5604-3 · Cited by 65
Cranial sutures: a multidisciplinary review
Ieva, A. D., Bruner, E., Davidson, J. M., Pisano, P., Haider, T. T., Stone, S. S. D., Cusimano, M. D., Tschabitscher, M., & Grizzi, F. (2013) · Child s Nervous System · doi:10.1007/s00381-013-2061-4 · Cited by 70
“All calvarial sutures are initiated at a juxtaposition line between neural crest and mesoderm, excluding the metopic suture, which is entirely within the neural crest [18].”
BackgroundInfluentialCraniosynostosis and maternal smoking
Carmichael, S. L., Ma, C., Rasmussen, S. A., Honein, M. A., Lammer, E. J., & Shaw, G. M. (2008) · Birth Defects Research Part A: Clinical and Molecular Teratology · doi:10.1002/bdra.20426 · Cited by 62
Cellular and developmental basis of orofacial clefts
Ji, Y., Garland, M. A., Sun, B. H., Zhang, S., Reynolds, K., McMahon, M., Rajakumar, R., Islam, M. S., Liu, Y., Chen, Y., et al. (2020) · Birth Defects Research · doi:10.1002/bdr2.1768 · Cited by 66
“However, if only the differentiation of CNCCs is disrupted, a dysmorphic cranial shape may occur (Morriss-Kay & Wilkie, 2005).”
BackgroundNormal human craniofacial growth and development from 0 to 4 years
Liang, C., Profico, A., Buzi, C., Khonsari, R. H., Johnson, D., O’Higgins, P., & Moazen, M. (2023) · Scientific Reports · doi:10.1038/s41598-023-36646-8 · Cited by 64
Sun, J., Ishii, M., Ting, M.-C., & Maxson, R. (2013) · Development · doi:10.1242/dev.085225 · Cited by 57
“The mammalian skull vault consists of a group of intricately patterned bones that develop in close coordination (Morriss-Kay and Wilkie, 2005; Chai and Maxson, 2006).”
BackgroundRegulation of bone morphogenetic protein signalling and cranial osteogenesis by Gpc1 and Gpc3
Dwivedi, P. P., Grose, R., Filmus, J., Hii, C. S. T., Xian, C. J., Anderson, P. J., & Powell, B. C. (2013) · Bone · doi:10.1016/j.bone.2013.04.013 · Cited by 59
“Mutations involving these pathways account formost craniosynostoses where there is a known genetic cause; about 20% of all craniosynostoses [1,10].”
BackgroundEpigenetics in evolution and disease
Esteller, M. (2008) · The Lancet · doi:10.1016/s0140-6736(08)61887-5 · Cited by 61
Further Analysis of the Crouzon Mouse: Effects of the FGFR2C342Y Mutation Are Cranial Bone–Dependent
Liu, J., Nam, H. K., Wang, E., & Hatch, N. E. (2013) · Calcified Tissue International · doi:10.1007/s00223-013-9701-2 · Cited by 58
“Each craniosynostosis syndrome involves the premature fusion of specific cranial sutures with resultant characteristic skull and facial shapes [3, 4, 12].”
Background
Metadata
- Authors
- Morriss‐Kay, G. M., & Wilkie, A. O. M.
- Affiliations
- University of Oxford (GB)
- John Radcliffe Hospital (GB)
- ORCID
- Wilkie, Andrew O. M.
- Venue
- Journal of Anatomy
- Publisher
- Wiley
- Published
- 2005-11
- Volume
- 207
- Issue
- 5
- Pages
- 637-653
- ISSN
- 0021-8782 (ISSN-L)
- 1469-7580
- PMC
- PMC1571561
- 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
- bronze
- doi.org
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review