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craniofacial growth and development

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https://www.readbyqxmd.com/read/28893947/small-molecule-wnt-agonists-correct-cleft-palates-in-pax9-mutant-mice-in-utero
#1
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 the most common among 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 first show that the absence of Pax9 alters the expression of Wnt pathway genes including Dkk1 and Dkk2, proven antagonists of Wnt signaling...
September 11, 2017: Development
https://www.readbyqxmd.com/read/28892929/connective-tissue-growth-factor-transgenic-mouse-develops-cardiac-hypertrophy-lean-body-mass-and-alopecia
#2
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
#3
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
https://www.readbyqxmd.com/read/28863112/disruption-of-hedgehog-signaling-by-vismodegib-leads-to-cleft-palate-and-delayed-osteogenesis-in-experimental-design
#4
Shixian Zhang, Chengyong Wang, Changfu Xie, Yongzhen Lai, Di Wu, Guowu Gan, Weihui Chen
The function of hedgehog signaling has previously been shown to be crucial for craniofacial development. In this study, we treated C57/BL6J mice with the hedgehog pathway inhibitor vismodegib by oral gavage to establish a stable vismodegib-induced cleft palate model. At E10.5 and E12.5, mice in the experimental group were treated with 100 mg/kg of vismodegib, whereas mice in the control group were treated with solvent. The treated pregnant mice were sacrificed on E13.5, E14.5, E15.5, and E16.5. Palatal shelf growth was evaluated via histological and immunohistochemical analyses as well as palatal organ culture...
September 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28857986/craniofacial-and-dental-features-in-six-children-with-cherubism
#5
Patricia Stoor, Anni Suomalainen, Maarit Kemola, Sirpa Arte
Cherubism is an autosomal-dominant benign bone disorder, characterized by fibro-osseous lesions in the mandible and maxilla commonly caused by mutations in the SH3-binding protein 2-gene. The purpose of the authors' study was to analyze craniofacial and dental features of children diagnosed with cherubism, describe their treatment, and assess their dental age compared with norms for Finnish children. Six children were diagnosed, followed up and treated due to dental and skeletal disorders caused by cherubsim...
August 28, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28856179/gene-expression-profile-data-for-mouse-facial-development
#6
Sonia M Leach, Weiguo Feng, Trevor Williams
This article contains data related to the research articles "Spatial and Temporal Analysis of Gene Expression during Growth and Fusion of the Mouse Facial Prominences" (Feng et al., 2009) [1] and "Systems Biology of facial development: contributions of ectoderm and mesenchyme" (Hooper et al., 2017 In press) [2]. Embryonic mammalian craniofacial development is a complex process involving the growth, morphogenesis, and fusion of distinct facial prominences into a functional whole. Aberrant gene regulation during this process can lead to severe craniofacial birth defects, including orofacial clefting...
August 2017: Data in Brief
https://www.readbyqxmd.com/read/28855872/a-novel-method-to-detect-3d-mandibular-changes-related-to-soft-diet-feeding
#7
Kana Kono, Chihiro Tanikawa, Takeshi Yanagita, Hiroshi Kamioka, Takashi Yamashiro
Craniofacial morphology varies among individuals, which is regulated by the interaction between genes and the environment. Soft-diet feeding is a widely-used experimental model for studying the association between the skeletal morphology and muscle-related loading on the bone. Traditionally, these studies have been based on linear and angular measurements provided on two-dimensional (2D) radiographs in the lateral view. However, 2D observation is based on simplification of the anatomical structures and cannot detect three-dimensional (3D) changes in detail...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28818510/breathing-mode-influence-on-craniofacial-development-and-head-posture
#8
Annel Chambi-Rocha, Maria Eugenia Cabrera-Domínguez, Antonia Domínguez-Reyes
OBJECTIVE: The incidence of abnormal breathing and its consequences on craniofacial development is increasing, and is not limited to children with adenoid faces. The objective of this study was to evaluate the cephalometric differences in craniofacial structures and head posture between nasal breathing (NB) and oral breathing (OB) children and teenagers with a normal facial growth pattern. METHOD: Ninety-eight 7-16 year-old patients with a normal facial growth pattern were clinically and radiographically evaluated...
August 14, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28802359/transmission-analysis-of-tgfb1-gene-polymorphisms-in-non-syndromic-cleft-lip-with-or-without-cleft-palate
#9
Ginila T Raju, Bhaskar V K S Lakkakula, Jyotsna Murthy, Munirajan Arasambattu Kannan, Solomon F D Paul
OBJECTIVES: Transforming growth factor beta1 (TGF-β1) plays a significant role in craniofacial development. Previous linkage studies reported that the TGF-β1-locus at 19q13.1 harbour predisposing genes for non-syndromic oral clefts. In the present study case parents triads were evaluated to find the transmission effects of genetic variants in TGF- β1 towards non-syndromic cleft lip or palate (NSCL/P). METHODS: Using allelic discrimination method148 families (case-parent triads) were assessed for single nucleotide polymorphisms (SNPs) in TGF-β1 gene...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28794913/wolf-hirschhorn-syndrome-clinical-and-genetic-data-from-a-first-case-diagnosed-in-central-africa
#10
Sébastien Mbuyi-Musanzayi, Aimé Lumaka, Toni Lubala Kasole, Erick Kasamba Ilunga, Bienvenu Yogolelo Asani, Prosper Lukusa Tshilobo, Prosper Kalenga Muenze, Hervé Reychler, François Tshilombo Katombe, Koenraad Devriendt
Wolf-Hirschhorn syndrome (WHS) is a multiple congenital anomaly-intellectual disability syndrome caused by a deletion involving chromosome 4p16.3. We report clinical and genetic findings of the first WHS patient diagnosed in central Africa. This boy who presented with cleft palate, microcephaly, severe growth delay, and intellectual disability was 12 years old. Typical craniofacial features were present, though the characteristic "Greek helmet" appearance of the nose was less evident, probably reflecting a variable expression related to the genetic background...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28762259/congenital-muscle-dystrophy-and-diet-consistency-affect-mouse-skull-shape-differently
#11
Alexander Spassov, Viviana Toro-Ibacache, Mirjam Krautwald, Heinrich Brinkmeier, Kornelius Kupczik
The bones of the mammalian skull respond plastically to changes in masticatory function. However, the extent to which muscle function affects the growth and development of the skull, whose regions have different maturity patterns, remains unclear. Using muscle dissection and 3D landmark-based geometric morphometrics we investigated the effect of changes in muscle function established either before or after weaning, on skull shape and muscle mass in adult mice. We compared temporalis and masseter mass and skull shape in mice with a congenital muscle dystrophy (mdx) and wild type (wt) mice fed on either a hard or a soft diet...
July 31, 2017: Journal of Anatomy
https://www.readbyqxmd.com/read/28757702/clinical-characteristics-of-crouzon-syndrome
#12
L Balyen, L S Deniz Balyen, S Pasa
Crouzon syndrome (CS) is an genetic disorder with autosomal dominant inheritance caused by mutation of the gene for fibroblast growth factor receptor 2 (FGFR2) was described as one of the varieties of craniosynostosis. In this presented case, premature closure of the sutures had caused restricted skull growth and lack of space for the growing brain resulted to shallowed eyes and cranial and ophthalmic deformities and impairment in tooth development. Management of a patient of CS has two components. First is the release of prematurely fused sutures based on evidence of raised intracranial pressure...
May 2017: Oman Journal of Ophthalmology
https://www.readbyqxmd.com/read/28749845/postnatal-development-of-the-spheno-occipital-synchondrosis-a-histological-analysis
#13
Jiewen Dai, Yuheng Lin, Ouyang Ningjuan, Jun Shi, Dedong Yu, Guofang Shen
The spheno-occipital synchondrosis (SOS) in cranial base is an important growth center for the craniofacial skeleton, and also is a guide rail for development of the maxilla, midface, and mandible. Previous studies showed that SOS may be a treatment target for youngsters with midfacial hypoplasia and small cranial vault secondary to craniosynostosis. However, most of studies about the SOS are based on imaging data. In this study, we try to explore the characteristics of postnatal development of the mouse SOS based on histological analysis...
September 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28737426/posterior-cranial-base-natural-growth-and-development-a-systematic-review
#14
Kris Currie, Dena Sawchuk, Humam Saltaji, Heesoo Oh, Carlos Flores-Mir, Manuel Lagravere
OBJECTIVE: To provide a synthesis of the published studies evaluating the natural growth and development of the human posterior cranial base (S-Ba). MATERIALS AND METHODS: The search was performed on MEDLINE, Embase, PubMed, and all EBM Reviews electronic databases. In addition, reference lists of the included studies were hand-searched. Articles were included if they analyzed posterior cranial-base growth in humans specifically. Study selection, data extraction, and risk of bias assessment were completed in duplicate...
July 24, 2017: Angle Orthodontist
https://www.readbyqxmd.com/read/28697314/grainyhead-like-transcription-factors-in-craniofacial-development
#15
M R Carpinelli, M E de Vries, S M Jane, S Dworkin
Craniofacial development in vertebrates involves the coordinated growth, migration, and fusion of several facial prominences during embryogenesis, processes governed by strict genetic and molecular controls. A failure in any of the precise spatiotemporal sequences of events leading to prominence fusion often leads to anomalous facial, skull, and jaw formation-conditions termed craniofacial defects (CFDs). Affecting approximately 0.1% to 0.3% of live births, CFDs are a highly heterogeneous class of developmental anomalies, which are often underpinned by genetic mutations...
July 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28692520/disruption-of-hedgehog-signaling-by-vismodegib-leads-to-cleft-palate-and-delayed-osteogenesis-in-mice
#16
Shixian Zhang, Chengyong Wang, Changfu Xie, Yongzhen Lai, Di Wu, Guowu Gan, Weihui Chen
The function of hedgehog signaling has previously been shown to be crucial for craniofacial development. In this study, we treated C57/BL6J mice with the hedgehog pathway inhibitor vismodegib by oral gavage to establish a stable vismodegib-induced cleft palate model. At E10.5 and E12.5, mice in the experimental group were treated with 100 mg/kg of vismodegib, whereas mice in the control group were treated with solvent. The treated pregnant mice were sacrificed on E13.5, E14.5, E15.5, and E16.5. Palatal shelf growth was evaluated via histological and immunohistochemical analyses as well as palatal organ culture...
July 7, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28692499/would-be-prophylactic-administrations-of-low-concentration-of-alendronate-an-alternative-for-improving-the-craniofacial-bone-repair-a-preliminary-study-focused-in-the-period-of-cellular-differentiation-and-tissue-organization
#17
Isabella Göhringer, Carmem L Storrer Muller, Emanuelle Juliana Cunha, Giuliene Nunes De Souza Passoni, Juliana Souza Vieira, João Cesar Zielak, Rafaela Scariot, Tatiana Miranda Deliberador, Allan Fernando Giovanini
BACKGROUND: Alendronate (ALN) is a nitrogen-bisphosphonate that may induce an anabolic effect on craniofacial bone repair when administrated in low doses. Based on this premise, this study analyzed the influence of prophylactic low doses of ALN on bone healing in defects created in rabbit mandible. METHODS: A 5 × 2-mm diameter deep defect was created in the calvaria of 28 rabbits. Fourteen of these rabbits received previously 50 μg/kg of 1% sodium ALN for 4 weeks, while the other rabbits received only 0...
July 7, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28643915/preface-to-coast-2016-innovators-workshop-on-personalized-and-precision-orthodontic-therapy
#18
J C Nickel, D A Covell, S A Frazier-Bowers, S Kapila, S S Huja, L R Iwasaki
OBJECTIVE: A second focused workshop explored how to transfer novel findings into clinical orthodontic practice. SETTING AND SAMPLE POPULATION: Participants met in West Palm Beach (Florida, USA), on 9-11 September 2016 for the Consortium for Orthodontic Advances in Science and Technology 2016 Innovators' Workshop (COAST). Approximately 65 registered attendees considered and discussed information from 27 to 34 speakers, 8 to 15 poster presenters and four lunch-hour focus group leaders...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28643905/diverse-contribution-of-col2a1-expressing-cells-to-the-craniofacial-skeletal-cell-lineages
#19
N Sakagami, W Ono, N Ono
OBJECTIVES: Craniofacial skeletal development requires deliberate coordination of two distinct mechanisms of endochondral and intramembranous ossification. Col2a1-expressing cells encompass growth-associated skeletal progenitors in endochondral bones of the limb. The objective of this study was to determine the contribution of Col2a1-expressing cells to the craniofacial skeletal cell lineages. We hypothesize that Col2a1-expressing progenitors significantly contribute to various modes of ossification associated with the craniofacial development...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28630177/integrated-genome-and-transcriptome-sequencing-identifies-a-noncoding-mutation-in-the-genome-replication-factor-donson-as-the-cause-of-microcephaly-micromelia-syndrome
#20
Gilad D Evrony, Dwight R Cordero, Jun Shen, Jennifer N Partlow, Timothy W Yu, Rachel E Rodin, R Sean Hill, Michael E Coulter, Anh-Thu N Lam, Divya Jayaraman, Dianne Gerrelli, Diana G Diaz, Chloe Santos, Victoria Morrison, Antonella Galli, Ulrich Tschulena, Stefan Wiemann, M Jocelyne Martel, Betty Spooner, Steven C Ryu, Princess C Elhosary, Jillian M Richardson, Danielle Tierney, Christopher A Robinson, Rajni Chibbar, Dana Diudea, Rebecca Folkerth, Sheldon Wiebe, A James Barkovich, Ganeshwaran H Mochida, James Irvine, Edmond G Lemire, Patricia Blakley, Christopher A Walsh
While next-generation sequencing has accelerated the discovery of human disease genes, progress has been largely limited to the "low hanging fruit" of mutations with obvious exonic coding or canonical splice site impact. In contrast, the lack of high-throughput, unbiased approaches for functional assessment of most noncoding variants has bottlenecked gene discovery. We report the integration of transcriptome sequencing (RNA-seq), which surveys all mRNAs to reveal functional impacts of variants at the transcription level, into the gene discovery framework for a unique human disease, microcephaly-micromelia syndrome (MMS)...
August 2017: Genome Research
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