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craniofacial growth and development

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https://www.readbyqxmd.com/read/29752281/increased-fgf8-signaling-promotes-chondrogenic-rather-than-osteogenic-development-in-the-embryonic-skull
#1
Linnea Schmidt, Aftab Taiyab, Vida Senkus Melvin, Kenneth L Jones, Trevor Williams
The bones of the cranial vault are formed directly from mesenchymal cells through intramembranous ossification rather than via a cartilage intermediate. Formation and growth of the skull bones involves the interaction of multiple cell:cell signaling pathways, with Fibroblast Growth Factors (FGFs) and their receptors exerting prominent influence. Mutations within this pathway are the most frequent cause of craniosynostosis, which is a common human craniofacial developmental abnormality characterized by the premature fusion of the cranial sutures...
May 10, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29750247/tp53-dependent-and-independent-signaling-underlies-the-pathogenesis-and-possible-prevention-of-acrofacial-dysostosis-cincinnati-type
#2
Kristin E N Watt, Cynthia L Neben, Shawn Hall, Amy E Merrill, Paul A Trainor
Ribosome biogenesis is a global process required for growth and proliferation in all cells, but disruptions in this process surprisingly lead to tissue-specific phenotypic disorders termed ribosomopathies. Pathogenic variants in the RNA Polymerase (Pol) I subunit POLR1A cause Acrofacial Dysostosis - Cincinnati type, which is characterized by craniofacial and limb anomalies. In a zebrafish model of Acrofacial Dysostosis - Cincinnati type, we demonstrate that polr1a-/- mutants exhibit deficient 47S rRNA transcription, reduced monosomes and polysomes and, consequently, defects in protein translation...
May 10, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29746183/msx2-marks-spatially-restricted-populations-of-mesenchymal-precursors
#3
N Sakagami, Y Matsushita, S Syklawer-Howle, H M Kronenberg, W Ono, N Ono
Craniofacial development requires a set of patterning codes that define the identities of postmigratory mesenchymal cells in a region-specific manner, in which locally expressed morphogens, including fibroblast growth factors (FGFs) and bone morphogenetic proteins (BMPs), provide instructive cues. Msx2, a bona fide target of BMP signaling, is a transcription factor regulating Runx2 and osterix (Osx), whose mutations are associated with cranial deformities in humans. Here we show that Msx2 defines osteo-chondro precursor cells in specific regions of the craniofacial mesenchyme at the postmigratory stage, particularly in the mandibular process and the posterior cranial vault...
May 1, 2018: Journal of Dental Research
https://www.readbyqxmd.com/read/29722897/mucopolysaccharidosis-vi-and-effects-on-growth-of-the-apical-bases-a-case-report
#4
Moema Ferreira Dos Reis, Lucas Rodrigues Pinheiro, Maria das Graças Rodrigues Pinheiro, Haroldo Amorim de Almeida, Patrícia do Socorro Queiroz Feio, Sâmia Cordovil de Almeida, Isabel Cristina Neves de Souza, Roberto Giugliani, Ida Vanessa Doederlein Schwartz, Rosely Maria Dos Santos Cavaleiro, João de Jesus Viana Pinheiro, Luiz Carlos Santana da Silva
OBJECTIVE: Mucopolysaccharidosis (MPS) VI is a rare disorder caused by an autosomal recessive mutation in the short arm of chromosome 5 (5q12-13) leading to an N-acetylgalactosamine-sulfatase lysosomal enzyme deficiency and numerous systemic clinical changes. The oral and maxillofacial complex may exhibit tooth eruption anomalies, macroglossia, gingival hypertrophy, mouth breathing, increased lower facial height, open bite, retrognathia, and progressive TMJ arthrosis. This report describes craniofacial growth changes in two MPS VI patients, sisters and daughters of outbred parents, who were longitudinally monitored from 11 to 15 years of age...
May 3, 2018: Special Care in Dentistry
https://www.readbyqxmd.com/read/29706218/prediction-of-the-occurrence-and-severity-of-mandibular-incisor-crowding-in-the-early-mixed-dentition-using-craniofacial-parameters
#5
Ahmadreza Sardarian, Faezeh Ghaderi
INTRODUCTION: With the recent interest in esthetics at an early age, prediction of mandibular incisor crowding is of significant importance. Since dental arch development is related to craniofacial growth, we conducted a cohort study to find a regression model for mandibular incisor crowding based on various craniofacial parameters in children. METHODS: A total of 250 children, all in the early mixed dentition, were selected randomly by cluster sampling from primary schools...
May 2018: American Journal of Orthodontics and Dentofacial Orthopedics
https://www.readbyqxmd.com/read/29696412/characterization-of-the-perinatal-mandible-growth-pattern-preliminary-results
#6
F Remy, Y Godio-Raboutet, E Verna, G Gorincour, P Bonnaure, P Adalian, L Guyot, L Thollon
PURPOSE: The fetal development of the mandible is nowadays quite understood, and it is already known that craniofacial growth reaches its highest rate during the first 5 years of postnatal life. However, there are very few data focusing on the perinatal period. Thus, the present article is addressing this concern by studying the mandible morphology and its evolution around the birth with a morphometric method. METHODS: Thirty-one mandibles modelled in three dimensions from post-mortem CT-scans were analyzed...
April 25, 2018: Surgical and Radiologic Anatomy: SRA
https://www.readbyqxmd.com/read/29694940/gene-gene-interaction-for-nonsyndromic-cleft-lip-with-or-without-cleft-palate-in-chilean-case-parent-trios
#7
José Suazo, José Luis Santos, Alicia Colombo, Rosa Pardo
OBJECTIVE: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a birth defect for which several genes susceptibility genes been proposed. Consequently, it has been suggested that many of these genes belong to common inter-related pathways during craniofacial development gene-gene interaction. We evaluated the presence of gene-gene interaction for single nucleotide polymorphisms within interferon regulatory factor 6 (IRF6), muscle segment homeobox 1 (MSX1), bone morphogenetic protein 4 (BMP4) and transforming growth factor 3 (TGFB3) genes in NSCL/P risk in Chilean case-parent trios...
April 18, 2018: Archives of Oral Biology
https://www.readbyqxmd.com/read/29679588/growth-and-development-of-craniofacial-structures-in-patients-at-different-ages-with-unrepaired-submucous-cleft-palate
#8
Congcong Cao, Xue Xu, Qian Zheng, Bing Shi, Jingtao Li, Yan Wang
PURPOSE: Submucous cleft palate (SMCP) is a particular subtype of cleft palate deformity; research related to the craniofacial features of patients with SMCP is comparatively rare. The study objective was to perform a cephalometric comparison of the craniofacial features of patients with SMCP and non-cleft controls at different ages. MATERIALS AND METHODS: The sample in this cross-sectional study was composed of 2 groups: SMCP patients and non-cleft controls. The primary predictor variables were study group (cleft and non-cleft) and age...
March 28, 2018: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29672982/juvenile-divergence-in-adaptive-traits-among-seven-sympatric-fish-eco-morphs-arises-before-moving-to-different-lacustrine-habitats
#9
Evgeny V Esin, Grigorii N Markevich, Michail Yu Pichugin
Identifying the mechanisms initiating sympatric diversification in vertebrates has remained a conceptual challenge. Here we analyze an assemblage of sympatric charr (Salvelinus malma) morphs from landlocked Lake Kronotskoe basin as a model to uncover the divergence pathways in freshwater fishes during the early life history stages. All morphs have distinct developmental biology, but a similar developmental rate retardation compared to the ancestor. Our study reveals that adult morphological differences, which acquire functionality at maturation, originate in the early juvenile stages due to heterochrony in skeletogenesis and allometric changes triggered by variation in metabolic activity...
April 19, 2018: Journal of Evolutionary Biology
https://www.readbyqxmd.com/read/29656860/truncating-variants-in-naa15-are-associated-with-variable-levels-of-intellectual-disability-autism-spectrum-disorder-and-congenital-anomalies
#10
Hanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, Ning Ma, Deepti Domingo, Robert Kleyner, Alan F Rope, Margaret Yoon, Asbjørg Stray-Pedersen, Jennifer E Posey, Sarah R Crews, Mohammad K Eldomery, Zeynep Coban Akdemir, Andrea M Lewis, Vernon R Sutton, Jill A Rosenfeld, Erin Conboy, Katherine Agre, Fan Xia, Magdalena Walkiewicz, Mauro Longoni, Frances A High, Marjon A van Slegtenhorst, Grazia M S Mancini, Candice R Finnila, Arie van Haeringen, Nicolette den Hollander, Claudia Ruivenkamp, Sakkubai Naidu, Sonal Mahida, Elizabeth E Palmer, Lucinda Murray, Derek Lim, Parul Jayakar, Michael J Parker, Stefania Giusto, Emanuela Stracuzzi, Corrado Romano, Jennifer S Beighley, Raphael A Bernier, Sébastien Küry, Mathilde Nizon, Mark A Corbett, Marie Shaw, Alison Gardner, Christopher Barnett, Ruth Armstrong, Karin S Kassahn, Anke Van Dijck, Geert Vandeweyer, Tjitske Kleefstra, Jolanda Schieving, Marjolijn J Jongmans, Bert B A de Vries, Rolph Pfundt, Bronwyn Kerr, Samantha K Rojas, Kym M Boycott, Richard Person, Rebecca Willaert, Evan E Eichler, R Frank Kooy, Yaping Yang, Joseph C Wu, James R Lupski, Thomas Arnesen, Gregory M Cooper, Wendy K Chung, Jozef Gecz, Holly A F Stessman, Linyan Meng, Gholson J Lyon
N-alpha-acetylation is a common co-translational protein modification that is essential for normal cell function in humans. We previously identified the genetic basis of an X-linked infantile lethal Mendelian disorder involving a c.109T>C (p.Ser37Pro) missense variant in NAA10, which encodes the catalytic subunit of the N-terminal acetyltransferase A (NatA) complex. The auxiliary subunit of the NatA complex, NAA15, is the dimeric binding partner for NAA10. Through a genotype-first approach with whole-exome or genome sequencing (WES/WGS) and targeted sequencing analysis, we identified and phenotypically characterized 38 individuals from 33 unrelated families with 25 different de novo or inherited, dominantly acting likely gene disrupting (LGD) variants in NAA15...
April 9, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29651721/the-correlation-between-growth-hormone-receptor-ghr-polymorphism-and-obstructive-sleep-apnea-syndrome-among-the-han-and-hani-population-in-china
#11
Juanjuan Ji, Yunwei Yang, Yan Lin, Xudong Li, Xiaoguang Wu, Xi Yang, Ling Zhong, Ying Tang, Zhiyong Huang, Xiaoguang He
Obstructive sleep apnea syndrome (OSAS) is a common health problem that is associated with abnormality in craniofacial morphology. The growth hormone receptor (GHR) belongs to the cytokine receptor superfamily and mediates the majority of growth hormone signaling, which, among other functions, determines mandibular growth and development. The aim of this study was to determine if correlations exist between single nucleotide polymorphisms (SNPs) in the GHR gene and OSAS in the Han or Hani ethnic groups in China...
April 13, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29616744/craniofacial-development-discoveries-made-in-the-chicken-embryo
#12
John Abramyan, Joy M Richman
The aim of this review is to highlight some of the key contributions to our understanding of craniofacial research from work carried out with the chicken and other avian embryos. From the very first observations of neural crest cell migration to the fusion of the primary palate, the chicken has proven indispensable in facilitating craniofacial research. In this review we will look back to the premolecular studies where "cut and paste" grafting experiments mapped the fate of cranial neural crest cells, the role of different tissue layers in patterning the face, and more recently the contribution of neural crest cells to jaw size and identity...
2018: International Journal of Developmental Biology
https://www.readbyqxmd.com/read/29611183/maternal-environment-and-craniofacial-growth-geometric-morphometric-analysis-of-mandibular-shape-changes-with-in-utero-thyroxine-overexposure-in-mice
#13
Matthew J Kesterke, Margaret A Judd, Mark P Mooney, Michael I Siegel, Mohammed Elsalanty, R Nicole Howie, Seth M Weinberg, James J Cray
An estimated 3% of US pregnancies are affected by maternal thyroid dysfunction, with between one and three of every 1000 pregnancies being complicated by overactive maternal thyroid levels. Excess thyroid hormones are linked to neurological impairment and excessive craniofacial variation, affecting both endochondral and intramembranous bone. Using a geometric morphometric approach, this study evaluates the role of in utero thyroxine overexposure on the growth of offspring mandibles in a sample of 241 mice. Canonical variate analysis utilized 16 unilateral mandibular landmarks obtained from 3D micro-computed tomography to assess shape changes between unexposed controls (n = 63) and exposed mice (n = 178)...
April 2, 2018: Journal of Anatomy
https://www.readbyqxmd.com/read/29590634/-mek1-y130c-mice-recapitulate-aspects-of-human-cardio-facio-cutaneous-syndrome
#14
Rifdat Aoidi, Nicolas Houde, Kim Landry-Truchon, Michael Holter, Kevin Jacquet, Louis Charron, Suguna Rani Krishnaswami, Benjamin D Yu, Katherine A Rauen, Nicolas Bisson, Jason Newbern, Jean Charron
The RAS/MAPK signaling pathway is one of the most investigated pathways, owing to its established role in numerous cellular processes and implication in cancer. Germline mutations in genes encoding members of the RAS/MAPK pathway also cause severe developmental syndromes collectively known as RASopathies. These syndromes share overlapping characteristics, including craniofacial dysmorphology, cardiac malformations, cutaneous abnormalities and developmental delay. Cardio-facio-cutaneous syndrome (CFC) is a rare RASopathy associated with mutations in BRAF , KRAS , MEK1 ( MAP2K1 ) and MEK2 ( MAP2K2 )...
March 13, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29574817/craniofacial-disorders
#15
A A Heggie
The complexity of the craniofacial patient mandates the cooperation of a multidisciplinary team that can systematically evaluate each individual and ensure that a protocol-driven pathway is undertaken for the best patient care. Oral and maxillofacial surgeons contribute to surgical care in this setting with specific knowledge of growth and development of the face. This enables optimum timing for early skeletal correction where appropriate, and definitive surgery following the cessation of growth to maximize function and aesthetics...
March 2018: Australian Dental Journal
https://www.readbyqxmd.com/read/29556038/modelling-3d-craniofacial-growth-trajectories-for-population-comparison-and-classification-illustrated-using-sex-differences
#16
Harold S Matthews, Anthony J Penington, Rita Hardiman, Yi Fan, John G Clement, Nicola M Kilpatrick, Peter D Claes
Many disorders present with characteristic abnormalities of the craniofacial complex. Precise descriptions of how and when these abnormalities emerge and change during childhood and adolescence can inform our understanding of their underlying pathology and facilitate diagnosis from craniofacial shape. In this paper we develop a framework for analysing how anatomical differences between populations emerge and change over time, and for binary group classification that adapts to the age of each participant. As a proxy for a disease-control comparison we use a database of 3D photographs of normally developing boys and girls to examine emerging sex-differences...
March 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29554065/characteristics-of-the-development-of-the-maxillae-and-vomer-in-patients-with-bilateral-cleft-lip-and-palate
#17
Chanyuan Jiang, Yilue Zheng, Ningbei Yin, Tao Song
The aim of this study was to investigate the anatomical features of the maxillae and vomer in patients with bilateral cleft lip and palate (BCLP). Craniofacial measurements of 24 adult BCLP patients (GB) and 32 normal adult controls (GN) were carried out. We measured the width and length of the maxillae, their relative positions with respect to the coronal plane passing through the basion, and the volume, length, cross-sectional area, and mean width of the vomer. Between-group differences were assessed using independent-sample t tests...
March 16, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29545856/molecular-differences-between-mature-and-immature-dental-pulp-cells-bioinformatics-and-preliminary-results
#18
Long Chen, Yifeng Jiang, Zhen Du
Although previous studies have demonstrated that dental pulp stem cells (DPSCs) from mature and immature teeth exhibit potential for multi-directional differentiation, the molecular and biological difference between the DPSCs from mature and immature permanent teeth has not been fully investigated. In the present study, 500 differentially expressed genes from dental pulp cells (DPCs) in mature and immature permanent teeth were obtained from the Gene Expression Omnibus online database. Based on bioinformatics analysis using the Database for Annotation, Visualization and Integrated Discovery, these genes were divided into a number of subgroups associated with immunity, inflammation and cell signaling...
April 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29509170/temporomandibular-joint-ankylosis-algorithm-of-treatment
#19
Rodrigo Fariña, Loreto Canto, Renato Gunckel, Juan Pablo Alister, Francisca Uribe
: Temporomandibular joint ankylosis, according to age of onset, causes severe functional and morphological disorders, as well as stunted craniofacial growth and development.The primary goal of treatment is to resolve the functional and morphological disorders. METHOD: Pre- and posttreatment clinical and cephalometric registries were conducted in 15 patients with temporomandibular joint ankylosis over a 10-year period (2002-2012). All the patients underwent complete removal of the ankylotic block, gap arthroplasty, and ipsilateral coronoidectomy...
March 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29480643/role-of-matrix-gla-protein-in-midface-development-recent-advances
#20
J Marulanda, M Murshed
Craniofacial development is a delicate process that involves complex interactions among cells of multiple developmental origins, their migration, proliferation, and differentiation. Tissue morphogenesis of the craniofacial skeleton depends on genetic and environmental factors, and on specific signaling pathways, which are still not well understood. Developmental defects of the midface caused by the absence, delays, or premature fusion of nasal and maxillary prominences vary in severity; leading to clefts, hypoplasias, and midline expansion...
March 2018: Oral Diseases
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