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Genetics and Molecular Mechanisms of Craniofacial Diseases: A Perspective of...
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Genetics and Molecular Mechanisms of Craniofacial Diseases: A Perspective of Intracellular Trafficking and Signaling

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (25 February 2021) | Viewed by 6446

Special Issue Editor

Dr. Jinoh Kim

E-Mail Website
Guest Editor
Department of Biomedical Sciences, College of Veterinary Medicine, Iowa State University, Ames, IA 50011, USA
Interests: cellular stress; craniofacial disease; signaling; trafficking

Special Issue Information

Dear Colleagues,

Questions of fundamental importance pertaining to the process of craniofacial morphogenesis include what the molecular players of the craniofacial development process are, how these molecules contribute to craniofacial development, and how an alteration in these molecules disrupts the process. Studies of craniofacial diseases have provided clues to the answers of these questions. For example, one major type of calvarial malformation is failure of the fontanels and/or sutures to close. Another type of abnormality in the cranium is premature closing of one or more cranial sutures, or craniosynostosis. Many genes encoding cell surface receptors/ligands, signaling components, and transcription factors have been identified whose pathological mutations cause craniofacial malformations. In addition, intracellular trafficking systems have turned out to be a critical player in craniofacial morphogenesis over the past two decades. This makes sense because cell surface receptors such as FGFRs are targeted to and maintained in their destination via complex trafficking machineries, and a defect in the trafficking of the receptors will alter the signaling of the receptors. Precise understanding of genetics, signaling pathways, and intracellular trafficking of such receptors and their ligands will provide further insight into pathology of craniofacial diseases.

For this Special Issue, I invite the submission of both reviews and original research articles investigating craniofacial diseases caused by a disruption in signaling or trafficking of receptors and their ligands.

Dr. Jinoh Kim
Guest Editor

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Keywords

  • Bone
  • Craniofacial
  • Development
  • Disease
  • Gene
  • Ligand
  • Receptor
  • Signaling
  • Secretion
  • Suture
  • Trafficking
  • Transcription factor

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Published Papers (2 papers)

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Review

21 pages, 1939 KiB  
Review
Ciliary Signalling and Mechanotransduction in the Pathophysiology of Craniosynostosis
by Federica Tiberio, Ornella Parolini and Wanda Lattanzi
Genes 2021, 12(7), 1073; https://doi.org/10.3390/genes12071073 - 14 Jul 2021
Cited by 13 | Viewed by 3388
Abstract
Craniosynostosis (CS) is the second most prevalent inborn craniofacial malformation; it results from the premature fusion of cranial sutures and leads to dimorphisms of variable severity. CS is clinically heterogeneous, as it can be either a sporadic isolated defect, more frequently, or part [...] Read more.
Craniosynostosis (CS) is the second most prevalent inborn craniofacial malformation; it results from the premature fusion of cranial sutures and leads to dimorphisms of variable severity. CS is clinically heterogeneous, as it can be either a sporadic isolated defect, more frequently, or part of a syndromic phenotype with mendelian inheritance. The genetic basis of CS is also extremely heterogeneous, with nearly a hundred genes associated so far, mostly mutated in syndromic forms. Several genes can be categorised within partially overlapping pathways, including those causing defects of the primary cilium. The primary cilium is a cellular antenna serving as a signalling hub implicated in mechanotransduction, housing key molecular signals expressed on the ciliary membrane and in the cilioplasm. This mechanical property mediated by the primary cilium may also represent a cue to understand the pathophysiology of non-syndromic CS. In this review, we aimed to highlight the implication of the primary cilium components and active signalling in CS pathophysiology, dissecting their biological functions in craniofacial development and in suture biomechanics. Through an in-depth revision of the literature and computational annotation of disease-associated genes we categorised 18 ciliary genes involved in CS aetiology. Interestingly, a prevalent implication of midline sutures is observed in CS ciliopathies, possibly explained by the specific neural crest origin of the frontal bone. Full article
(This article belongs to the Special Issue Genetics and Molecular Mechanisms of Craniofacial Diseases: A Perspective of Intracellular Trafficking and Signaling)
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10 pages, 887 KiB  
Review
Craniofacial Diseases Caused by Defects in Intracellular Trafficking
by Chung-Ling Lu and Jinoh Kim
Genes 2021, 12(5), 726; https://doi.org/10.3390/genes12050726 - 13 May 2021
Cited by 2 | Viewed by 2625
Abstract
Cells use membrane-bound carriers to transport cargo molecules like membrane proteins and soluble proteins, to their destinations. Many signaling receptors and ligands are synthesized in the endoplasmic reticulum and are transported to their destinations through intracellular trafficking pathways. Some of the signaling molecules [...] Read more.
Cells use membrane-bound carriers to transport cargo molecules like membrane proteins and soluble proteins, to their destinations. Many signaling receptors and ligands are synthesized in the endoplasmic reticulum and are transported to their destinations through intracellular trafficking pathways. Some of the signaling molecules play a critical role in craniofacial morphogenesis. Not surprisingly, variants in the genes encoding intracellular trafficking machinery can cause craniofacial diseases. Despite the fundamental importance of the trafficking pathways in craniofacial morphogenesis, relatively less emphasis is placed on this topic, thus far. Here, we describe craniofacial diseases caused by lesions in the intracellular trafficking machinery and possible treatment strategies for such diseases. Full article
(This article belongs to the Special Issue Genetics and Molecular Mechanisms of Craniofacial Diseases: A Perspective of Intracellular Trafficking and Signaling)
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