Special Issue "Craniofacial Genetics and Developmental Biology"

A special issue of Journal of Developmental Biology (ISSN 2221-3759).

Deadline for manuscript submissions: 30 April 2021.

Special Issue Editors

Prof. Sally A. Moody
E-Mail Website
Guest Editor
Department of Anatomy and Regenerative Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA
Interests: neural fate specification; Craniofacial development; cranial sensory placodes; Six1; neural gene regulatory networks
Dr. André Luiz Pasqua Tavares
E-Mail Website
Co-Guest Editor
Department of Anatomy and Cell Biology, The George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA
Interests: Craniofacial; development; SIX1; BOR; embryology; placodes; neural crest; birth defects

Special Issue Information

Dear Colleagues,

The majority of human birth defects include craniofacial dysmorphologies. Key to their prevention, early detection and clinical amelioration is research into the underlying genetic causes, as well as an understanding of the normal developmental processes that give rise to the large variety of craniofacial structures. Using human sequencing data and several animal model systems, significant progress is being made into the fundamental developmental genetics and morphogenesis of these tissues. This Special Issue of the Journal of Developmental Biology will provide an overview of the current standing of basic and clinical research in craniofacial genetics and developmental biology, highlighting directions for future craniofacial research and clinical translation. Contributions can be reviews, as well as research papers.

Prof. Sally Moody
Guest Editor
Dr. André Luiz Pasqua Tavares
Co-Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Developmental Biology is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Cranial neural crest
  • Cranial sensory placodes
  • Cleft lip
  • Cleft palate
  • Craniofacial syndromes
  • Mandible
  • Maxilla
  • Teeth
  • Calvarium
  • Auditory-vestibular

Published Papers (6 papers)

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Research

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Open AccessArticle
Timing of Mouse Molar Formation Is Independent of Jaw Length Including Retromolar Space
J. Dev. Biol. 2021, 9(1), 8; https://doi.org/10.3390/jdb9010008 - 12 Mar 2021
Viewed by 266
Abstract
For humans and other mammals to eat effectively, teeth must develop properly inside the jaw. Deciphering craniodental integration is central to explaining the timely formation of permanent molars, including third molars which are often impacted in humans, and to clarifying how teeth and [...] Read more.
For humans and other mammals to eat effectively, teeth must develop properly inside the jaw. Deciphering craniodental integration is central to explaining the timely formation of permanent molars, including third molars which are often impacted in humans, and to clarifying how teeth and jaws fit, function and evolve together. A factor long-posited to influence molar onset time is the jaw space available for each molar organ to form within. Here, we tested whether each successive molar initiates only after a minimum threshold of space is created via jaw growth. We used synchrotron-based micro-CT scanning to assess developing molars in situ within jaws of C57BL/6J mice aged E10 to P32, encompassing molar onset to emergence. We compared total jaw, retromolar and molar lengths, and molar onset times, between upper and lower jaws. Initiation time and developmental duration were comparable between molar upper and lower counterparts despite shorter, slower-growing retromolar space in the upper jaw, and despite size differences between upper and lower molars. Timing of molar formation appears unmoved by jaw length including space. Conditions within the dental lamina likely influence molar onset much more than surrounding jaw tissues. We theorize that molar initiation is contingent on sufficient surface area for the physical reorganization of dental epithelium and its invagination of underlying mesenchyme. Full article
(This article belongs to the Special Issue Craniofacial Genetics and Developmental Biology)
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Open AccessArticle
Craniofacial Analysis May Indicate Co-Occurrence of Skeletal Malocclusions and Associated Risks in Development of Cleft Lip and Palate
J. Dev. Biol. 2020, 8(1), 2; https://doi.org/10.3390/jdb8010002 - 28 Jan 2020
Cited by 1 | Viewed by 1176
Abstract
Non-syndromic orofacial clefts encompass a range of morphological changes affecting the oral cavity and the craniofacial skeleton, of which the genetic and epigenetic etiologic factors remain largely unknown. The objective of this study is to explore the contribution of underlying dentofacial deformities (also [...] Read more.
Non-syndromic orofacial clefts encompass a range of morphological changes affecting the oral cavity and the craniofacial skeleton, of which the genetic and epigenetic etiologic factors remain largely unknown. The objective of this study is to explore the contribution of underlying dentofacial deformities (also known as skeletal malocclusions) in the craniofacial morphology of non-syndromic cleft lip and palate patients (nsCLP). For that purpose, geometric morphometric analysis was performed using full skull cone beam computed tomography (CBCT) images of patients with nsCLP (n = 30), normocephalic controls (n = 60), as well as to sex- and ethnicity- matched patients with an equivalent dentofacial deformity (n = 30). Our outcome measures were shape differences among the groups quantified via principal component analysis and associated principal component loadings, as well as mean shape differences quantified via a Procrustes distance among groups. According to our results, despite the shape differences among all three groups, the nsCLP group shares many morphological similarities in the maxilla and mandible with the dentofacial deformity group. Therefore, the dentoskeletal phenotype in nsCLP could be the result of the cleft and the coexisting dentofacial deformity and not simply the impact of the cleft. Full article
(This article belongs to the Special Issue Craniofacial Genetics and Developmental Biology)
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Review

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Open AccessReview
The Skull’s Girder: A Brief Review of the Cranial Base
J. Dev. Biol. 2021, 9(1), 3; https://doi.org/10.3390/jdb9010003 - 23 Jan 2021
Viewed by 435
Abstract
The cranial base is a multifunctional bony platform within the core of the cranium, spanning rostral to caudal ends. This structure provides support for the brain and skull vault above, serves as a link between the head and the vertebral column below, and [...] Read more.
The cranial base is a multifunctional bony platform within the core of the cranium, spanning rostral to caudal ends. This structure provides support for the brain and skull vault above, serves as a link between the head and the vertebral column below, and seamlessly integrates with the facial skeleton at its rostral end. Unique from the majority of the cranial skeleton, the cranial base develops from a cartilage intermediate—the chondrocranium—through the process of endochondral ossification. Owing to the intimate association of the cranial base with nearly all aspects of the head, congenital birth defects impacting these structures often coincide with anomalies of the cranial base. Despite this critical importance, studies investigating the genetic control of cranial base development and associated disorders lags in comparison to other craniofacial structures. Here, we highlight and review developmental and genetic aspects of the cranial base, including its transition from cartilage to bone, dual embryological origins, and vignettes of transcription factors controlling its formation. Full article
(This article belongs to the Special Issue Craniofacial Genetics and Developmental Biology)
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Open AccessReview
Phenotypes, Developmental Basis, and Genetics of Pierre Robin Complex
J. Dev. Biol. 2020, 8(4), 30; https://doi.org/10.3390/jdb8040030 - 05 Dec 2020
Viewed by 858
Abstract
The phenotype currently accepted as Pierre Robin syndrome/sequence/anomalad/complex (PR) is characterized by mandibular dysmorphology, glossoptosis, respiratory obstruction, and in some cases, cleft palate. A causative sequence of developmental events is hypothesized for PR, but few clear causal relationships between discovered genetic variants, dysregulated [...] Read more.
The phenotype currently accepted as Pierre Robin syndrome/sequence/anomalad/complex (PR) is characterized by mandibular dysmorphology, glossoptosis, respiratory obstruction, and in some cases, cleft palate. A causative sequence of developmental events is hypothesized for PR, but few clear causal relationships between discovered genetic variants, dysregulated gene expression, precise cellular processes, pathogenesis, and PR-associated anomalies are documented. This review presents the current understanding of PR phenotypes, the proposed pathogenetic processes underlying them, select genes associated with PR, and available animal models that could be used to better understand the genetic basis and phenotypic variation of PR. Full article
(This article belongs to the Special Issue Craniofacial Genetics and Developmental Biology)
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Open AccessReview
Genetics Underlying the Interactions between Neural Crest Cells and Eye Development
J. Dev. Biol. 2020, 8(4), 26; https://doi.org/10.3390/jdb8040026 - 10 Nov 2020
Viewed by 707
Abstract
The neural crest is a unique, transient stem cell population that is critical for craniofacial and ocular development. Understanding the genetics underlying the steps of neural crest development is essential for gaining insight into the pathogenesis of congenital eye diseases. The neural crest [...] Read more.
The neural crest is a unique, transient stem cell population that is critical for craniofacial and ocular development. Understanding the genetics underlying the steps of neural crest development is essential for gaining insight into the pathogenesis of congenital eye diseases. The neural crest cells play an under-appreciated key role in patterning the neural epithelial-derived optic cup. These interactions between neural crest cells within the periocular mesenchyme and the optic cup, while not well-studied, are critical for optic cup morphogenesis and ocular fissure closure. As a result, microphthalmia and coloboma are common phenotypes in human disease and animal models in which neural crest cell specification and early migration are disrupted. In addition, neural crest cells directly contribute to numerous ocular structures including the cornea, iris, sclera, ciliary body, trabecular meshwork, and aqueous outflow tracts. Defects in later neural crest cell migration and differentiation cause a constellation of well-recognized ocular anterior segment anomalies such as Axenfeld–Rieger Syndrome and Peters Anomaly. This review will focus on the genetics of the neural crest cells within the context of how these complex processes specifically affect overall ocular development and can lead to congenital eye diseases. Full article
(This article belongs to the Special Issue Craniofacial Genetics and Developmental Biology)
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Open AccessReview
Cranial Neural Crest Cells and Their Role in the Pathogenesis of Craniofacial Anomalies and Coronal Craniosynostosis
J. Dev. Biol. 2020, 8(3), 18; https://doi.org/10.3390/jdb8030018 - 09 Sep 2020
Cited by 1 | Viewed by 1184
Abstract
Craniofacial anomalies are among the most common of birth defects. The pathogenesis of craniofacial anomalies frequently involves defects in the migration, proliferation, and fate of neural crest cells destined for the craniofacial skeleton. Genetic mutations causing deficient cranial neural crest migration and proliferation [...] Read more.
Craniofacial anomalies are among the most common of birth defects. The pathogenesis of craniofacial anomalies frequently involves defects in the migration, proliferation, and fate of neural crest cells destined for the craniofacial skeleton. Genetic mutations causing deficient cranial neural crest migration and proliferation can result in Treacher Collins syndrome, Pierre Robin sequence, and cleft palate. Defects in post-migratory neural crest cells can result in pre- or post-ossification defects in the developing craniofacial skeleton and craniosynostosis (premature fusion of cranial bones/cranial sutures). The coronal suture is the most frequently fused suture in craniosynostosis syndromes. It exists as a biological boundary between the neural crest-derived frontal bone and paraxial mesoderm-derived parietal bone. The objective of this review is to frame our current understanding of neural crest cells in craniofacial development, craniofacial anomalies, and the pathogenesis of coronal craniosynostosis. We will also discuss novel approaches for advancing our knowledge and developing prevention and/or treatment strategies for craniofacial tissue regeneration and craniosynostosis. Full article
(This article belongs to the Special Issue Craniofacial Genetics and Developmental Biology)
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