Mouse models for the study of cranial base growth and anomalies

Targeted Disruption of Mouse EGF receptor: Effect of Genetic Background on Mutant Phenotype

Threadgill, D. W., Dlugosz, A. A., Hansen, L. A., Tennenbaum, T., Lichti, U. F., Yee, D., LaMantia, C., Mourton, T., Herrup, K., Harris, R. C., et al. (1995) · Science · doi:10.1126/science.7618084 · Cited by 1,460 · see citing works

Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3

Naski, M. C., Colvin, J. S., Coffin, J. D., & Ornitz, D. M. (1998) · Development · doi:10.1242/dev.125.24.4977 · Cited by 420 · see citing works

Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway

Yasoda, A., Komatsu, Y., Chusho, H., Miyazawa, T., Ozasa, A., Miura, M., Kurihara, T., Rogi, T., Tanaka, S., Suda, M., et al. (2004) · Nature Medicine · doi:10.1038/nm971 · Cited by 396 · see citing works

Basicranial influence on overall cranial shape

Lieberman, D. E., Pearson, O. M., & Mowbray, K. M. (2000) · Journal of Human Evolution · doi:10.1006/jhev.1999.0335 · Cited by 335 · see citing works

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 · see citing works

TheIIIcalternative ofFgfr2is a positive regulator of bone formation

Eswarakumar, V. P., Ornan, E. M., Pines, M., Antonopoulou, I., Morriss‐Kay, G. M., & Lonai, P. (2002) · Development · doi:10.1242/dev.129.16.3783 · Cited by 259 · see citing works

Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis.

Chen, L., Adar, R., Yang, X., Monsonego, E. O., Li, C.-L., Hauschka, P. V., Yayon, A., & Deng, C.-X. (1999) · Journal of Clinical Investigation · doi:10.1172/jci6690 · Cited by 257 · see citing works

A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis

Eswarakumar, V. P., Horowitz, M. C., Locklin, R. M., Morriss‐Kay, G. M., & Lonai, P. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0405031101 · Cited by 224 · see citing works

Statin treatment rescues FGFR3 skeletal dysplasia phenotypes

Yamashita, A., Morioka, M., Kishi, H., Kimura, T., Yahara, Y., Okada, M., Fujita, K., Sawai, H., Ikegawa, S., & Tsumaki, N. (2014) · Nature · doi:10.1038/nature13775 · Cited by 216 · see citing works

Abnormalities in cartilage and bone development in the Apert syndrome FGFR2+/S252W mouse

Wang, Y., Xiao, R., Yang, F., Karim, B. O., Iacovelli, A. J., Cai, J., Lerner, C. P., Richtsmeier, J. T., Leszl, J. M., Hill, C. A., et al. (2005) · Development · doi:10.1242/dev.01914 · Cited by 200 · see citing works

Hierarchical nature of morphological integration and modularity in the human posterior face

Bastir, M., & Rosas, A. (2005) · American Journal of Physical Anthropology · doi:10.1002/ajpa.20191 · Cited by 194 · see citing works

Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia.

Lorget, F., Kaci, N., Peng, J. W., Benoist-Lasselin, C., Mugniery, E., Oppeneer, T., Wendt, D., Bell, S., Bullens, S., Bunting, S., et al. (2012) · American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.10.014 · Cited by 193 · see citing works

ConditionalKif3aablation causes abnormal hedgehog signaling topography, growth plate dysfunction, and excessive bone and cartilage formation during mouse skeletogenesis

Koyama, E., Young, B. B., Nagayama, M., Shibukawa, Y., Enomoto‐Iwamoto, M., Iwamoto, M., MAEDA, Y. Y., Lanske, B., Song, B., Serra, R. A., et al. (2007) · Development · doi:10.1242/dev.001586 · Cited by 180 · see citing works

A Ser250Trp substitution in mouse fibroblast growth factor receptor 2 (Fgfr2) results in craniosynostosis

Chen, L., Li, D., Li, C., Engel, A., & Deng, C. (2003) · Bone · doi:10.1016/s8756-3282(03)00222-9 · Cited by 179 · see citing works

A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia.

Chen, L., Li, C.-L., Qiao, W., Xu, X.-L., & Deng, C.-X. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.5.457 · Cited by 166 · see citing works

FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway

Matsushita, T., Wilcox, W. R., Chan, Y. Y., Kawanami, A., Bükülmez, H., Balmes, G. C., Krejčı́, P., Mekikian, P. B., Otani, K., Yamaura, I., et al. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn339 · Cited by 166 · see citing works

Spatial packing, cranial base angulation, and craniofacial shape variation in the mammalian skull: testing a new model using mice

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 · see citing works

Bone abnormalities in latent TGF-β binding protein (Ltbp)-3–null mice indicate a role for Ltbp-3 in modulating TGF-β bioavailability

Dabovic, B., Chen, Y., Colarossi, C., Obata, H., Zambuto, L., Perle, M. A., & Rifkin, D. B. (2002) · The Journal of Cell Biology · doi:10.1083/jcb.200111080 · Cited by 159 · see citing works

Correlated variation between the lateral basicranium and the face: A geometric morphometric study in different human groups

Bastir, M., & Rosas, A. (2006) · Archives of Oral Biology · doi:10.1016/j.archoralbio.2006.03.009 · Cited by 152 · see citing works

Systemic administration of C-type natriuretic peptide as a novel therapeutic strategy for skeletal dysplasias.

Yasoda, A., Kitamura, H., Fujii, T., Kondo, E., Murao, N., Miura, M., Kanamoto, N., Komatsu, Y., Arai, H., & Nakao, K. (2009) · Endocrinology · doi:10.1210/en.2008-1676 · Cited by 117 · see citing works

The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia

Caparros-Martin, J. A., Valencia, M., Reytor, E., Pacheco, M., Fernández, M., Aytés, A. P., Geán, E., Lapunzina, P. D., Peters, H., Goodship, J. A., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds409 · Cited by 111 · see citing works

Osteo-Chondroprogenitor–Specific Deletion of the Selenocysteine tRNA Gene, Trsp, Leads to Chondronecrosis and Abnormal Skeletal Development: A Putative Model for Kashin-Beck Disease

Downey, C. M., Horton, C. R., Carlson, B. A., Parsons, T. E., Hatfield, D. L., Hallgrímsson, B., & Jirik, F. R. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000616 · Cited by 110 · see citing works

The Craniofacial Phenotype of the Crouzon Mouse: Analysis of a Model for Syndromic Craniosynostosis Using Three-Dimensional MicroCT

Perlyn, C. A., DeLeon, V. B., Babbs, C., et al. (2006) · The Cleft Palate-Craniofacial Journal · doi:10.1597/05-212 · Cited by 102 · see citing works

Tissue-nonspecific alkaline phosphatase deficiency causes abnormal craniofacial bone development in the Alpl−/− mouse model of infantile hypophosphatasia

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 · see citing works

Mouse models and the evolutionary developmental biology of the skull

Hallgrímsson, B., & Lieberman, D. E. (2008) · Integrative and Comparative Biology · doi:10.1093/icb/icn076 · Cited by 95 · see citing works

Endochondral ossification of the mouse nasal septum

Wealthall, R. J., & Herring, S. W. (2006) · The Anatomical Record Part A Discoveries in Molecular Cellular and Evolutionary Biology · doi:10.1002/ar.a.20385 · Cited by 93 · see citing works

BMP4 promotes chondrocyte proliferation and hypertrophy in the endochondral cranial base

Shum, L., Wang, X., Kane, A. A., et al. (2003) · The International Journal of Developmental Biology · doi:10.1387/ijdb.14598792 · Cited by 91 · see citing works

Postnatal Soluble FGFR3 Therapy Rescues Achondroplasia Symptoms and Restores Bone Growth in Mice

Garcia, S., Dirat, B., Tognacci, T., Rochet, N., Mouska, X., Bonnafous, S., Patouraux, S., Tran, A., Gual, P., le Marchand-Brustel, Y., et al. (2013) · Science Translational Medicine · doi:10.1126/scitranslmed.3006247 · Cited by 88 · see citing works

FGFR3 mutation causes abnormal membranous ossification in achondroplasia

Rocco, F. D., Duplan, M. B., Heuzé, Y., Kaci, N., Komla-Ebri, D. S. K., Münnich, A., Dambroise, E., Benoist-Lasselin, C., & Legeai‐Mallet, L. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu004 · Cited by 87 · see citing works

Developmental Regulation of the Growth Plate and Cranial Synchondrosis

Wei, X., Hu, M., Mishina, Y. M., & Liu, F. (2016) · Journal of Dental Research · doi:10.1177/0022034516651823 · Cited by 84 · see citing works

Postnatal Ontogeny of the Cranial Base and Craniofacial Skeleton in Male C57BL/6J Mice: A Reference Standard for Quantitative Analysis

Vora, S. R., Camci, E. D., & Cox, T. C. (2016) · Frontiers in Physiology · doi:10.3389/fphys.2015.00417 · Cited by 83 · see citing works

Advances in treatment of achondroplasia and osteoarthritis

Klag, K. A., & Horton, W. A. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv419 · Cited by 83 · see citing works

Osterix-Cre Transgene Causes Craniofacial Bone Development Defect

Wang, L., Mishina, Y. M., & Liu, F. (2014) · Calcified Tissue International · doi:10.1007/s00223-014-9945-5 · Cited by 80 · see citing works

Indian and sonic hedgehogs regulate synchondrosis growth plate and cranial base development and function

Young, B. B., Minugh‐Purvis, N., Shimo, T., St‐Jacques, B., Iwamoto, M., Enomoto‐Iwamoto, M., Koyama, E., & Pacifici, M. (2006) · Developmental Biology · doi:10.1016/j.ydbio.2006.07.028 · Cited by 77 · see citing works

Molecular mechanisms of midfacial developmental defects

Suzuki, A., Sangani, D. R., Ansari, A., & Iwata, J. (2015) · Developmental Dynamics · doi:10.1002/dvdy.24368 · Cited by 75 · see citing works

Earlier Evidence of Spheno-Occipital Synchondrosis Fusion Correlates with Severity of Midface Hypoplasia in Patients with Syndromic Craniosynostosis

Goldstein, J., Paliga, J. T., Wink, J., Bartlett, S., Nah, H., & Taylor, J. A. (2014) · Plastic and Reconstructive Surgery · doi:10.1097/prs.0000000000000419 · Cited by 66 · see citing works

Wnt/β-catenin Signaling Regulates Cranial Base Development and Growth

Nagayama, M., Iwamoto, M., Hargett, A., et al. (2008) · Journal of Dental Research · doi:10.1177/154405910808700309 · Cited by 58 · see citing works

Meclozine Promotes Longitudinal Skeletal Growth in Transgenic Mice with Achondroplasia Carrying a Gain-of-Function Mutation in the FGFR3 Gene

Matsushita, M., Hasegawa, S., Kitoh, H., Mori, K., Ohkawara, B., Yasoda, A., Masuda, A., Ishiguro, N., & Ohno, K. (2014) · Endocrinology · doi:10.1210/en.2014-1914 · Cited by 58 · see citing works

Histomorphological study on pattern of fluid movement in cortical bone in goats

Qin, L., Mak, A. T. F., Cheng, C. W., Hung, L. K., & Chan, K. M. (1999) · The Anatomical Record · doi:10.1002/(sici)1097-0185(19990801)255:4 · Cited by 58 · see citing works

Tissue‐specific responses to aberrant FGF signaling in complex head phenotypes

Martínez‐Abadías, N., Perrine, S. M. M., Pankratz, T. L., Wang, Y., Aldridge, K. J., Jabs, E. W., & Richtsmeier, J. T. (2012) · Developmental Dynamics · doi:10.1002/dvdy.23903 · Cited by 54 · see citing works

Mind the Gap: Genetic Manipulation of Basicranial Growth within Synchondroses Modulates Calvarial and Facial Shape in Mice through Epigenetic Interactions

Parsons, T. E., Downey, C. M., Jirik, F. R., Hallgrímsson, B., & Jamniczky, H. A. (2015) · PLoS ONE · doi:10.1371/journal.pone.0118355 · Cited by 54 · see citing works

Growth of cranial synchondroses and sutures requires polycystin-1

Kolpakova-Hart, E., McBratney‐Owen, B., Hou, B., et al. (2008) · Developmental Biology · doi:10.1016/j.ydbio.2008.07.005 · Cited by 53 · see citing works

Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2)

Khonsari, R. H., Ohazama, A., Raouf, R., Kawasaki, M., Kawasaki, K., Porntaveetus, T., Ghafoor, S., Hammond, P., Suttie, M., Odri, G. A., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt041 · Cited by 50 · see citing works

The Developmental Basis of Quantitative Craniofacial Variation in Humans and Mice

Martínez‐Abadías, N., Mitterœcker, P., Parsons, T. E., Esparza, M., Sjøvold, T., Rolian, C., Richtsmeier, J. T., & Hallgrímsson, B. (2012) · Evolutionary Biology · doi:10.1007/s11692-012-9210-7 · Cited by 45 · see citing works

Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base

Pacheco, M., Valencia, M., Caparros-Martin, J. A., Mulero, F., Goodship, J. A., & Ruiz‐Pérez, V. L. (2011) · Bone · doi:10.1016/j.bone.2011.08.025 · Cited by 43 · see citing works

The Muenke syndrome mutation (FgfR3P244R) causes cranial base shortening associated with growth plate dysfunction and premature perichondrial ossification in murine basicranial synchondroses

Laurita, J., Koyama, E., Chin, B. C., et al. (2011) · Developmental Dynamics · doi:10.1002/dvdy.22752 · Cited by 41 · see citing works

Facial suture synostosis of newborn Fgfr1P250R/+ and Fgfr2S252W/+ mouse models of Pfeiffer and Apert syndromes

Purushothaman, R., Cox, T. C., Maga, A. M., & Cunningham, M. L. (2011) · Birth Defects Research Part A Clinical and Molecular Teratology · doi:10.1002/bdra.20811 · Cited by 41 · see citing works

The primary site of the acrocephalic feature in Apert syndrome is a dwarf cranial base with accelerated chondrocytic differentiation due to aberrant activation of the FGFR2 signaling

Nagata, M., Nuckolls, G. H., Wang, X., et al. (2010) · Bone · doi:10.1016/j.bone.2010.11.014 · Cited by 38 · see citing works

The Effects of C-type Natriuretic Peptide on Craniofacial Skeletogenesis

Nakao, K., Okubo, Y., Yasoda, A., et al. (2012) · Journal of Dental Research · doi:10.1177/0022034512466413 · Cited by 22 · see citing works

Conditional Deletion of Cytochrome P450 Reductase in Osteoprogenitor Cells Affects Long Bone and Skull Development in Mice Recapitulating Antley-Bixler Syndrome: Role of a Redox Enzyme in Development

Panda, S. P., Guntur, A. R., Polusani, S. R., Fajardo, R. J., Gakunga, P. T., Roman, L. J., & Masters, B. S. S. (2013) · PLoS ONE · doi:10.1371/journal.pone.0075638 · Cited by 14 · see citing works

Roles of the Primary Cilium Component Polaris in Synchondrosis Development

Ochiai, T., Nagayama, M., Nakamura, T., et al. (2009) · Journal of Dental Research · doi:10.1177/0022034509337775 · Cited by 13 · see citing works

Mouse resources for craniofacial research

Murray, S. A. (2011) · genesis · doi:10.1002/dvg.20722 · Cited by 12 · see citing works

The effect of naringin on early growth and development of the spheno-occipital synchondrosis as measured by the expression of PTHrP and Sox9--an in vitro model

Nowak-Solinska, E., Rabie, A. B. M., Wong, R., et al. (2012) · European Journal of Orthodontics · doi:10.1093/ejo/cjs089 · Cited by 10 · see citing works

Bardet-Biedl syndrome 3 regulates the development of cranial base midline structures

Kawasaki, M., Izu, Y., Hayata, T., et al. (2016) · Bone · doi:10.1016/j.bone.2016.02.017 · Cited by 10 · see citing works

Growth and development of the cranial base in mice that spontaneously develop anterior transverse crossbite

Tsukamoto, Y., Kajii, T. S., Oonishi, Y., et al. (2008) · American Journal of Orthodontics and Dentofacial Orthopedics · doi:10.1016/j.ajodo.2006.08.025 · Cited by 8 · see citing works

The effect of quercetin on expression of SOX9 and subsequent release of type II collagen in spheno-occipital synchondroses of organ-cultured mice

Apichart, V., Wong, R., Rabie, B. M., et al. (2011) · The Angle Orthodontist · doi:10.2319/042111-278.1 · Cited by 7 · see citing works

Morphological evaluation of cranial and maxillary shape differences of the brachymorphic mouse with spontaneous malocclusion using three‐dimensional micro‐computed tomography

Saito, F., Kajii, T. S., Sugawara-Kato, Y., et al. (2011) · Orthodontics and Craniofacial Research · doi:10.1111/j.1601-6343.2011.01513.x · Cited by 6 · see citing works

Presphenoidal synchondrosis fusion in DBA/2J mice

Adams, A., McBratney‐Owen, B., Newby, B., et al. (2012) · Mammalian Genome · doi:10.1007/s00335-012-9437-8 · Cited by 5 · see citing works

Morphological consequences of artificial cranial deformation: Modularity and integration

Püschel, T. A., Friess, M., & Manríquez, G. (2020) · PLOS ONE · doi:10.1371/journal.pone.0227362 · Cited by 22 · see citing works

Sphenoid Bone Determines the Curvature of the Cranial Vault in Postnatal Skull Development in C57BL/6 Mice

Adasooriya, D., Kyeong, M., & Cho, S. W. (2023) · Journal of Bone Metabolism · doi:10.11005/jbm.2023.30.1.93 · Cited by 6 · see citing works

Studies on orthocephalization. 2. Flexions of the rat head in the period between 14 and 60 days after gestation.

Vilmann, H., & Moss, M. L. (1979) · PubMed · Cited by 3 · see citing works

Morphological integration of the skull in craniofacial anomalies

Richtsmeier, J., & DeLeon, V. (2009) · Orthodontics & Craniofacial Research · doi:10.1111/j.1601-6343.2009.01448.x · Cited by 47 · see citing works

Modelling 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 · see citing works

Intentional craniofacial remodelling in Europe in the XIXth century: Quantitative evidence of soft tissue modifications from Toulouse, France

Galiay, L., Cornette, R., Laliève, L., Hennocq, Q., Cross, C., Alazmani, A., Moazen, M., & Khonsari, R. H. (2022) · Journal of Stomatology Oral and Maxillofacial Surgery · doi:10.1016/j.jormas.2022.05.002 · Cited by 6 · see citing works