Craniofacial Anomalies: From Development to Molecular Pathogenesis

Rice, David

doi:10.2174/156652405774641043

Cited by 95 publications

(78 citation statements)

References 218 publications

(295 reference statements)

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“…Relying on fundamental works of human facial embryogenesis it is possible to understand a detailed step-by-step pathway of the UL development using the Carnegie staging system (CSS) for human embryos [1,7,9,12,[17][18][19][20][21][22]. At stage 11 (the 24 th day of gestation), according to the CSS, the stomodeum (primitive mouth) is separated rostrally by the developing forebrain and caudally by the developing maxillary arches; the UP is not found yet.…”

Section: Peculiarities Of the Upper Lip Morphogenesis And Its Relatiomentioning

confidence: 99%

“…The effect on speech, hearing, appearance, and psychology can lead to long-lasting adverse outcomes for health and social integration. Although there has been marked some progress in identifying genetic and environmental triggers for developing CLP, the etiology of the isolated forms at the ontogenetic level remains poorly studied [17,19].…”

Section: Peculiarities Of the Upper Lip Morphogenesis And Its Relatiomentioning

confidence: 99%

“…Congenital malformations rank first among the causes of infant mortality and disability [4,11,17]. Cleft lip and cleft palate being a group of conditions that includes cleft lip (CL), cleft palate (CP), and both together (CLP) is the most common craniofacial birth defect in humans that occurs once in 500-2500 live births worldwide.…”

Section: Introductionmentioning

confidence: 99%

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Peculiarities of the Upper Lip Morphogenesis and Its Relation to Facial Development

et al. 2017

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An appreciation of the fundamental principles associated with the development of the craniofacial structures is essential for attaining competency within the fields of facial surgery, dentistry and pediatrics. The objective of this literature review was to highlight the main stages and precise time ranges of human upper lip development, as well as to elucidate the fundamental mechanisms of normal morphogenesis and possible congenital malformations. The structures of the head and neck arise from the lateral portion of the neural tube, which forms five pairs of branchial arches. Recent studies have identified various molecular pathways (including Bmp, Fgf and Shh signaling) and genetic mechanisms in human face development. Primordial structures of the upper lip begin to appear early within the 6th week of ontogenesis; their development involves a number of highly coordinated, genetically programmed ontogenetic mechanisms that include growth and expansion of the facial prominences, programmed cell death, active fusion and breakdown of the epithelial seam between the initially freely maxillary, medial nasal, and lateral nasal processes. Defects of epithelial and mesenchymal fusion during upper lip formation result in orofacial cleft. Further research should be directed to studying normal ontogenesis at the molecular and topographical levels with the determination of critical periods, time ranges and developmental stages that are sensitive to teratogens.

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Section: Peculiarities Of the Upper Lip Morphogenesis And Its Relatiomentioning

confidence: 99%

Section: Peculiarities Of the Upper Lip Morphogenesis And Its Relatiomentioning

confidence: 99%

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Peculiarities of the Upper Lip Morphogenesis and Its Relation to Facial Development

et al. 2017

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“…21,22 From the 9th week, the head is clearly divided from the body by the neck. In the week 11 and 12 structures like nose, orbits, maxilla, mandible and mouth can be observed (Fig.…”

Section: Normal Facial Developmentmentioning

confidence: 99%

Ultrasonographic Evaluation of Fetal Face by 3D/4D Sonography

Azumendi¹,

Lausin²,

Pooh³

et al. 2008

Donald School Journal of Ultrasound in Obstetrics and Gynecology

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Abstract:The evaluation of the fetal face is an important part of every ultrasound examination since detailed facial examination can provide many information alerting the examiner about possible associated anomalies. Face and the brain have the same embryonic origin. By using 2 and 3D ultrasound techniques, it is possible to obtain clear images of different fetal face defects. Incorporation of the 4D ultrasonography made it possible to examine fetal behavior including fetal face movements. In that way using the ultrasound in the examination of the fetal face provides many new information not just about the morphology but also about neurological development and function of the fetal face.

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“…CFAs seem to arise from a combination of genetic and environmental factors. Multiple genes mutated in children with CFAs have been identified, and most of them are transcription factors (e.g., Hox, Msx, Dlx and Gsc) [2]. However, the pathophysiological mechanisms governing craniofacial development are far from clear and the ~100 gene defects accounting for the majority of CFAs have not been thoroughly inves-tigated.…”

Section: Introductionmentioning

confidence: 99%

Cdh1 regulates craniofacial development via APC-dependent ubiquitination and activation of Goosecoid

et al. 2016

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Craniofacial anomalies (CFAs) characterized by birth defects of skull and facial bones are the most frequent congenital disease. Genomic analysis has identified multiple genes responsible for CFAs; however, the underlying genetic mechanisms for the majority of CFAs remain largely unclear. Our previous study revealed that the Wwp2 E3 ubiquitin ligase facilitates craniofacial development in part through inducing monoubiquitination and activation of the paired-like homeobox transcription factor, Goosecoid (Gsc). Here we report that Gsc is also ubiquitinated and activated by the APC Cdh1 E3 ubiquitin ligase, leading to transcriptional activation of various Gsc target genes crucial for craniofacial development. Consistenly, neural crest-specific Cdh1-knockout mice display similar bone malformation as Wwp2-deficient mice in the craniofacial region, characterized by a domed skull, a short snout and a twisted nasal bone. Mechanistically, like Wwp2-deficient mice, mice with Cdh1 deficiency in neural crest cells exhibit reduced Gsc/ Sox6 transcriptional activities. Simultaneous deletion of Cdh1 and Wwp2 results in a more severe craniofacial defect compared with single gene deletion, suggesting a synergistic augmentation of Gsc activity by these two E3 ubiquitin ligases. Hence, our study reveals a novel role for Cdh1 in craniofacial development through promoting APC-dependent non-proteolytic ubiquitination and activation of Gsc.

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Craniofacial Anomalies: From Development to Molecular Pathogenesis

Cited by 95 publications

References 218 publications

Peculiarities of the Upper Lip Morphogenesis and Its Relation to Facial Development

Peculiarities of the Upper Lip Morphogenesis and Its Relation to Facial Development

Ultrasonographic Evaluation of Fetal Face by 3D/4D Sonography

Cdh1 regulates craniofacial development via APC-dependent ubiquitination and activation of Goosecoid

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