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craniofacial growth and development

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https://www.readbyqxmd.com/read/29164113/chemokine-signaling-during-midline-epithelial-seam-disintegration-facilitates-palatal-fusion
#1
Christiaan M Suttorp, Niels A Cremers, René van Rheden, Raymond F Regan, Pia Helmich, Sven van Kempen, Anne M Kuijpers-Jagtman, Frank A D T G Wagener
Disintegration of the midline epithelial seam (MES) is crucial for palatal fusion, and failure results in cleft palate. Palatal fusion and wound repair share many common signaling pathways related to epithelial-mesenchymal cross-talk. We postulate that chemokine CXCL11, its receptor CXCR3, and the cytoprotective enzyme heme oxygenase (HO), which are crucial during wound repair, also play a decisive role in MES disintegration. Fetal growth restriction and craniofacial abnormalities were present in HO-2 knockout (KO) mice without effects on palatal fusion...
2017: Frontiers in Cell and Developmental Biology
https://www.readbyqxmd.com/read/29162626/identification-of-isthmin-1-as-a-novel-clefting-and-craniofacial-patterning-gene-in-humans
#2
Lisa A Lansdon, Benjamin W Darbro, Aline L Petrin, Alissa M Hulstrand, Jennifer M Standley, Rachel B Brouillette, Abby Long, M Adela Mansilla, Robert A Cornell, Jeffery C Murray, Douglas W Houston, J Robert Manak
Orofacial clefts are one of the most common birth defects, affecting 1-2 per 1000 births, and have a complex etiology. High-resolution array-based comparative genomic hybridization has increased the ability to detect copy number variants that can be causative for complex diseases such as cleft lip and/or palate. Utilizing this technique on 97 non-syndromic cleft lip and palate cases and 43 cases with cleft palate only, we identified a heterozygous deletion of Isthmin 1 in one affected case, as well as a deletion in a second case which removes putative 3' regulatory information...
November 21, 2017: Genetics
https://www.readbyqxmd.com/read/29157545/temporomandibular-joint-imaging
#3
REVIEW
Dania Tamimi, Elnaz Jalali, David Hatcher
The temporomandibular joint (TMJ) is an anatomically and biomechanically complex structure. Understanding how this structure grows and functions is essential to accurate radiographic evaluation. This article discusses the anatomy, function, and growth and development of the TMJ and how growth changes can affect the morphology of the craniofacial structures. Accordingly, the radiographic appearance of the entities that may alter the TMJ are discussed, including developmental, degenerative, inflammatory, and traumatic changes...
January 2018: Radiologic Clinics of North America
https://www.readbyqxmd.com/read/29156629/reconstruction-of-craniomaxillofacial-bone-defects-using-tissue-engineering-strategies-with-injectable-and-non-injectable-scaffolds
#4
REVIEW
Bipin Gaihre, Suren Uswatta, Ambalangodage C Jayasuriya
Engineering craniofacial bone tissues is challenging due to their complex structures. Current standard autografts and allografts have many drawbacks for craniofacial bone tissue reconstruction; including donor site morbidity and the ability to reinstate the aesthetic characteristics of the host tissue. To overcome these problems; tissue engineering and regenerative medicine strategies have been developed as a potential way to reconstruct damaged bone tissue. Different types of new biomaterials; including natural polymers; synthetic polymers and bioceramics; have emerged to treat these damaged craniofacial bone tissues in the form of injectable and non-injectable scaffolds; which are examined in this review...
November 20, 2017: Journal of Functional Biomaterials
https://www.readbyqxmd.com/read/29133259/loss-of-pit-2-results-in-abnormal-bone-development-and-decreased-bone-mineral-density-and-length-in-mice
#5
Shunsuke Yamada, Mary C Wallingford, Suhaib Borgeia, Timothy C Cox, Cecilia M Giachelli
Normal bone mineralization requires phosphate oversaturation in bone matrix vesicles, as well as normal regulation of phosphate metabolism via the interplay among bone, intestine, and kidney. In turn, derangement of phosphate metabolism greatly affects bone function and structure. The type III sodium-dependent phosphate transporters, PiT-1 and PiT-2, are believed to be important in tissue phosphate metabolism and physiological bone formation, but their requirement and molecular roles in bone remain poorly investigated...
November 10, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29127377/bayesian-networks-analysis-of-malocclusion-data
#6
Marco Scutari, Pietro Auconi, Guido Caldarelli, Lorenzo Franchi
In this paper we use Bayesian networks to determine and visualise the interactions among various Class III malocclusion maxillofacial features during growth and treatment. We start from a sample of 143 patients characterised through a series of a maximum of 21 different craniofacial features. We estimate a network model from these data and we test its consistency by verifying some commonly accepted hypotheses on the evolution of these disharmonies by means of Bayesian statistics. We show that untreated subjects develop different Class III craniofacial growth patterns as compared to patients submitted to orthodontic treatment with rapid maxillary expansion and facemask therapy...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29103943/from-oral-facial-dysfunction-to-dysmorphism-and-the-onset-of-pediatric-osa
#7
REVIEW
Christian Guilleminault, Yu-Shu Huang
The upper airway is a collapsible tube, and its collapsibility increases during sleep. Extrinsic factors such as atypical craniofacial features may increase the risks of airway collapse. We review early development of oral-facial structures and the anatomical variants that may be present at birth and can impact nasal breathing. After birth, there is a continuous interaction between orofacial functions and growth of anatomic features. We review the dysfunctions identified to date that may impact orofacial development leading to sleep-disordered-breathing through changes in the orofacial growth...
July 6, 2017: Sleep Medicine Reviews
https://www.readbyqxmd.com/read/29073101/utx-guided-neural-crest-function-underlies-craniofacial-features-of-kabuki-syndrome
#8
Karl B Shpargel, Joshua Starmer, Chaochen Wang, Kai Ge, Terry Magnuson
Kabuki syndrome, a congenital craniofacial disorder, manifests from mutations in an X-linked histone H3 lysine 27 demethylase (UTX/KDM6A) or a H3 lysine 4 methylase (KMT2D). However, the cellular and molecular etiology of histone-modifying enzymes in craniofacial disorders is unknown. We now establish Kabuki syndrome as a neurocristopathy, whereby the majority of clinical features are modeled in mice carrying neural crest (NC) deletion of UTX, including craniofacial dysmorphism, cardiac defects, and postnatal growth retardation...
October 24, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29069552/-i-xenopus-i-embryos-to-study-fetal-alcohol-syndrome-a-model-for-environmental-teratogenesis
#9
Abraham Fainsod, Hadas Kot-Leibovich
Vertebrate model systems are central to characterize the outcomes of ethanol exposure and the etiology of Fetal Alcohol Spectrum Disorder (FASD), taking advantage of their genetic and morphological closeness and similarity to humans. We discuss the contribution of amphibian embryos to FASD research, focusing on <i>Xenopus</i> embryos. The <i>Xenopus</i> experimental system is characterized by external development and accessibility throughout embryogenesis, large clutch sizes, gene and protein activity manipulation, transgenesis and genome editing, convenient chemical treatment, explants and conjugates and many other experimental approaches...
October 25, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/29058096/craniofacial-height-in-relation-to-cross-sectional-maxillary-and-mandibular-morphology
#10
Anna Klinge, Karin Becktor, Christina Lindh, Jonas P Becktor
BACKGROUND: In order to gain a better understanding of how growth of the alveolar bone is linked to the vertical development of the face, the purpose of this study was to investigate if there is an association between the cross-sectional morphology of the maxillary and mandibular bodies with the craniofacial height, using images from cone beam computed tomography (CBCT). METHODS: From 450 pre-treatment CBCT scans, 180 were selected to be included in the study. Lateral head images were generated from the CBCT scans and were used to categorise subjects into three groups based on their vertical craniofacial height...
October 23, 2017: Progress in Orthodontics
https://www.readbyqxmd.com/read/29056355/three-dimensional-macroporous-materials-for-tissue-engineering-of-craniofacial-bone
#11
REVIEW
Akhilesh Kumar Shakya, Umadevi Kandalam
Repair of critical-size defects caused by trauma, removal of a tumour, or congenital abnormalities is a challenge in the craniomaxillofacial region because of the limitations associated with treatment. We have reviewed research papers and updated information relevant to the various types of macroporous scaffolds. We have included papers on several biomaterials and their use in various craniofacial defects such as mandibular, calvarial, and others, as well as the latest technological developments such as 3-dimensional printed scaffolds...
October 19, 2017: British Journal of Oral & Maxillofacial Surgery
https://www.readbyqxmd.com/read/29019756/imaging-of-skeletal-disorders-caused-by-fibroblast-growth-factor-receptor-gene-mutations
#12
Kiran M Sargar, Achint K Singh, Simon C Kao
Fibroblast growth factors and fibroblast growth factor receptors (FGFRs) play important roles in human axial and craniofacial skeletal development. FGFR1, FGFR2, and FGFR3 are crucial for both chondrogenesis and osteogenesis. Mutations in the genes encoding FGFRs, types 1-3, are responsible for various skeletal dysplasias and craniosynostosis syndromes. Many of these disorders are relatively common in the pediatric population, and diagnosis is often challenging. These skeletal disorders can be classified based on which FGFR is affected...
October 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28977337/ankyloglossia-and-its-influence-on-growth-and-development-of-the-stomatognathic-system
#13
Livia Eisler Pompéia, Roberta Simoni Ilinsky, Cristina Lúcia Feijó Ortolani, Kurt Faltin
OBJECTIVE: To critically examine the existing Brazilian and International scientific literature regarding the influence of short lingual frenulum over growth and development of the stomatognathic system, as well as how it impacts the achievement of the shape-function balance. DATA SOURCES: An electronic literature search was conducted in databases, including MEDLINE/PubMed, Google Scholar, LILACS, SciELO, and ScienceDirect, using the key words "lingual frenum" and "development", as well as their equivalents in Brazilian Portuguese...
April 2017: Revista Paulista de Pediatria: Orgão Oficial da Sociedade de Pediatria de São Paulo
https://www.readbyqxmd.com/read/28959213/postnatal-craniofacial-skeletal-development-of-female-c57bl-6ncrl-mice
#14
Xiaoxi Wei, Neil Thomas, Nan E Hatch, Min Hu, Fei Liu
The craniofacial skeleton is a complex and unique structure. The perturbation of its development can lead to craniofacial dysmorphology and associated morbidities. Our ability to prevent or mitigate craniofacial skeletal anomalies is at least partly dependent on our understanding of the unique physiological development of the craniofacial skeleton. Mouse models are critical tools for the study of craniofacial developmental abnormalities. However, there is a lack of detailed normative data of mouse craniofacial skeletal development in the literature...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28959031/coup-tfii-is-required-for-morphogenesis-of-the-neural-crest-derived-tympanic-ring
#15
Wen-Hsin Hsu, Chun-Ming Chen, Li-Ru You
Chicken Ovalbumin Upstream Promoter-Transcription Factor II (COUP-TFII) plays pivotal roles in cell growth, cell differentiation, and cell fate determination. Although genome-wide studies have identified COUP-TFII binding on gene sets mainly involved in neural crest cell (NCC) development and craniofacial morphogenesis, the direct functional connection between COUP-TFII and NCCs in vivo has not been well characterized. In this study, we show that COUP-TFII is expressed in the subpopulation of NCCs and its derivatives, and targeted ablation of COUP-TFII in mouse NCCs results in markedly shortened and bifurcated tympanic rings, which in turn disturb the caudal direction of external acoustic meatus invagination...
September 28, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28954202/ciliopathy-protein-tmem107-plays-multiple-roles-in-craniofacial-development
#16
P Cela, M Hampl, N A Shylo, K J Christopher, M Kavkova, M Landova, T Zikmund, S D Weatherbee, J Kaiser, M Buchtova
A broad spectrum of human diseases called ciliopathies is caused by defective primary cilia morphology or signal transduction. The primary cilium is a solitary organelle that responds to mechanical and chemical stimuli from extracellular and intracellular environments. Transmembrane protein 107 (TMEM107) is localized in the primary cilium and is enriched at the transition zone where it acts to regulate protein content of the cilium. Mutations in TMEM107 were previously connected with oral-facial-digital syndrome, Meckel-Gruber syndrome, and Joubert syndrome exhibiting a range of ciliopathic defects...
September 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28927774/chronic-intestinal-pseudo-obstruction-in-a-child-with-treacher-collins-syndrome
#17
E Giabicani, J Lemale, L Dainese, S Boudjemaa, A Coulomb, P Tounian, B Dubern
BACKGROUND: Treacher Collins syndrome (TCS) mainly presents with severe craniofacial developmental abnormalities characterized by a combination of bilateral downward-slanting palpebral fissures, colobomas of the lower eyelids, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. It is due to mutations in Treacher Collins syndrome 1 (TCOF1) (5q32-q33.1) and Polymerase RNA 1 polypeptides D and C (POLR1D [13q12...
September 15, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28893947/small-molecule-wnt-agonists-correct-cleft-palates-in-pax9-mutant-mice-in-utero
#18
Shihai Jia, Jing Zhou, Christopher Fanelli, Yinshen Wee, John Bonds, Pascal Schneider, Gabriele Mues, Rena N D'Souza
Clefts of the palate and/or lip are among the most common human craniofacial malformations and involve multiple genetic and environmental factors. Defects can only be corrected surgically and require complex life-long treatments. Our studies utilized the well-characterized Pax9(-/-) mouse model with a consistent cleft palate phenotype to test small-molecule Wnt agonist therapies. We show that the absence of Pax9 alters the expression of Wnt pathway genes including Dkk1 and Dkk2, proven antagonists of Wnt signaling...
October 15, 2017: Development
https://www.readbyqxmd.com/read/28892929/connective-tissue-growth-factor-transgenic-mouse-develops-cardiac-hypertrophy-lean-body-mass-and-alopecia
#19
Edem Nuglozeh
INTRODUCTION: Connective Tissue Growth Factor (CTGF/CCN2) is one of the six members of cysteine-rich, heparin-binding proteins, secreted as modular protein and recognised to play a major function in cell processes such as adhesion, migration, proliferation and differentiation as well as chondrogenesis, skeletogenesis, angiogenesis and wound healing. The capacity of CTGF to interact with different growth factors lends an important role during early and late development, especially in the anterior region of the embryo...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28874636/growth-and-development-of-dentofacial-complex-influenced-by-genetic-and-environmental-factors-using-monozygotic-twins
#20
K K Manjusha, K Jyothindrakumar, A Nishad, K Madhav Manoj
AIM: The purpose of this study was to determine the possible effects of genetic and environmental factors on dentofacial complex using monozygotic twins. MATERIALS AND METHODS: The study sample was made of 21 pairs of monozygotic twins (14 female pairs and seven male pairs) between 10 and 25 years. Pretreatment lateral cephalo-grams were used which were traced and digitized, and various landmarks to determine the anteroposterior and vertical proportions were marked...
September 1, 2017: Journal of Contemporary Dental Practice
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