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Dental genetics

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https://www.readbyqxmd.com/read/28626923/comparative-performance-of-deciduous-and-permanent-dental-morphology-in-detecting-biological-relatives
#1
Kathleen S Paul, Christopher M Stojanowski
OBJECTIVES: Dental morphology plays a key role in reconstructing population history and evolutionary relationships at global, regional, and intracemetery scales. At the inter-individual level, it is assumed that close biological kin exhibit greater phenotypic similarity than non-relatives. Heritability estimates provide one measure of phenotypic resemblance but are not easily incorporated into analyses of archaeological samples. In this study we evaluate the assumption that relatives are more similar phenotypically than non-relatives...
June 19, 2017: American Journal of Physical Anthropology
https://www.readbyqxmd.com/read/28621280/utility-of-dermatoglyphic-pattern-in-prediction-of-caries-in-children-of-telangana-region-india
#2
Shaik M Asif, Dara Bg Babu, Shaik Naheeda
INTRODUCTION: Dermatoglyphics is an extremely useful tool as a preliminary investigation method for diagnosing suspected genetic disorders. Caries being a multifactorial disease with the influence of genetic pattern, early identification of caries risk children with dermatoglyphics can help in using effective and efficient caries preventive measures. AIMS AND OBJECTIVES: The study was undertaken to record and know the frequency of occurrence of fingerprint patterns among children with caries and in children without caries...
June 1, 2017: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/28611552/a-novel-mutation-in-pitx2-in-a-patient-with-axenfeld-rieger-syndrome
#3
Susan J Hassed, Shibo Li, Weihong Xu, Ashley C Taylor
Axenfeld-Rieger syndrome is a rare autosomal dominant condition. Anomalies include anterior segment dysgenesis of the eye, dental anomalies, maxillary hypoplasia, periumbilical anomalies, and congenital heart defects. We report a patient with Peters anomaly, dysmorphic features, congenital heart defect, umbilical hernia, short stature, and developmental delay. Diagnostic sequencing of 23 genes known to be causally related to the condition was performed on the patient, parents, and maternal grandparents. A variant of uncertain significance in PITX2 was identified...
March 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28608052/craniofacial-and-dental-characteristics-of-patients-with-vitamin-d-dependent-rickets-type-1a-compared-to-controls-and-patients-with-x-linked-hypophosphatemia
#4
Hans Gjørup, Signe Sparre Beck-Nielsen, Dorte Haubek
ᅟOBJECTIVES: Vitamin-D-dependent rickets type 1A (VDDR1A) is a rare inherited disease caused by defective activation of vitamin D. The aim of the study was to describe the craniofacial characteristics and the dental phenotype of patients with genetically confirmed VDDR1A. The VDDR1A findings were compared to findings in patients with X-linked hypophosphatemia (XLH) and healthy controls. MATERIAL AND METHODS: Ten patients with VDDR1A were identified. The reference group for the comparison of cephalometric findings was 49 adults without chronic disease...
June 12, 2017: Clinical Oral Investigations
https://www.readbyqxmd.com/read/28605746/pls3-mutations-in-x-linked-osteoporosis-clinical-and-bone-characteristics-of-two-novel-mutations
#5
Peter Kannu, Areej Mahjoub, Riyana Babul-Hirji, Melissa T Carter, Jennifer Harrington
BACKGROUND AND OBJECTIVES: Plastin 3 (PLS3) mutations are associated with an X-linked osteoporosis. Here we describe two new families with novel mutations, including one with a whole gene PLS3 deletion, and review the literature on 9 previously reported cases. RESULTS: Hemizygous male carriers presented with multiple peripheral bone fractures, low bone mineral density (BMD), and vertebral compression fractures. Heterozygous female carriers did not have a history of fragility fractures, although 1 individual presented with low BMD...
June 12, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28605602/role-of-primary-cilia-in-odontogenesis
#6
M Hampl, P Cela, H L Szabo-Rogers, M Kunova Bosakova, H Dosedelova, P Krejci, M Buchtova
Primary cilium is a solitary organelle that emanates from the surface of most postmitotic mammalian cells and serves as a sensory organelle, transmitting the mechanical and chemical cues to the cell. Primary cilia are key coordinators of various signaling pathways during development and maintenance of tissue homeostasis. The emerging evidence implicates primary cilia function in tooth development. Primary cilia are located in the dental epithelium and mesenchyme at early stages of tooth development and later during cell differentiation and production of hard tissues...
June 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28600842/a-scoping-review-of-epidemiologic-risk-factors-for-pediatric-obesity-implications-for-future-childhood-obesity-and-dental-caries-prevention-research
#7
Donald L Chi, Monique Luu, Frances Chu
RESEARCH QUESTIONS: What are the non-modifiable (socioeconomic, genetic) and modifiable factors (physical activity, dietary behaviors) related to childhood (under age 12) obesity? How can this knowledge be applied to oral health professionals' efforts to prevent or manage dental caries in children? OBJECTIVES: Studies have identified risk factors for childhood obesity. The purpose of this scoping review was to develop a conceptual model to identify non-modifiable and modifiable risk factors for childhood obesity and to illustrate how these findings are relevant in developing interventions aimed at preventing obesity and dental caries in children...
June 10, 2017: Journal of Public Health Dentistry
https://www.readbyqxmd.com/read/28596739/rank-rankl-opg-signalization-implication-in-periodontitis-new-evidence-from-a-rank-transgenic-mouse-model
#8
Bouchra Sojod, Danielle Chateau, Christopher G Mueller, Sylvie Babajko, Ariane Berdal, Frédéric Lézot, Beatriz Castaneda
Periodontitis is based on a complex inflammatory over-response combined with possible genetic predisposition factors. The RANKL/RANK/OPG signaling pathway is implicated in bone resorption through its key function in osteoclast differentiation and activation, as well as in the inflammatory response. This central element of osteo-immunology has been suggested to be perturbed in several diseases, including periodontitis, as it is a predisposing factor for this disease. The aim of the present study was to validate this hypothesis using a transgenic mouse line, which over-expresses RANK (R(Tg)) and develops a periodontitis-like phenotype at 5 months of age...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28592797/distinct-biological-potential-of-streptococcus-gordonii-and-streptococcus-sanguinis-revealed-by-comparative-genome-analysis
#9
Wenning Zheng, Mui Fern Tan, Lesley A Old, Ian C Paterson, Nicholas S Jakubovics, Siew Woh Choo
Streptococcus gordonii and Streptococcus sanguinis are pioneer colonizers of dental plaque and important agents of bacterial infective endocarditis (IE). To gain a greater understanding of these two closely related species, we performed comparative analyses on 14 new S. gordonii and 5 S. sanguinis strains using various bioinformatics approaches. We revealed S. gordonii and S. sanguinis harbor open pan-genomes and share generally high sequence homology and number of core genes including virulence genes. However, we observed subtle differences in genomic islands and prophages between the species...
June 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28591238/salivary-protein-polymorphisms-and-risk-of-dental-caries-a-systematic-review
#10
Andrea Lips, Leonardo Santos Antunes, Lívia Azeredo Antunes, Andrea Vaz Braga Pintor, Diana Amado Baptista Dos Santos, Rober Bachinski, Erika Calvano Küchler, Gutemberg Gomes Alves
Dental caries is an oral pathology associated with both lifestyle and genetic factors. The caries process can be influenced by salivary composition, which includes ions and proteins. Studies have described associations between salivary protein polymorphisms and dental caries experience, while others have shown no association with salivary proteins genetic variability. The aim of this study is to assess the influence of salivary protein polymorphisms on the risk of dental caries by means of a systematic review of the current literature...
June 5, 2017: Brazilian Oral Research
https://www.readbyqxmd.com/read/28589101/recombineering-in-streptococcus-mutans-using-direct-repeat-mediated-cloning-independent-markerless-mutagenesis-dr-cimm
#11
Shan Zhang, Zhengzhong Zou, Jens Kreth, Justin Merritt
Studies of the dental caries pathogen Streptococcus mutans have benefitted tremendously from its sophisticated genetic system. As part of our own efforts to further improve upon the S. mutans genetic toolbox, we previously reported the development of the first cloning-independent markerless mutagenesis (CIMM) system for S. mutans and illustrated how this approach could be adapted for use in many other organisms. The CIMM approach only requires overlap extension PCR (OE-PCR) protocols to assemble counterselectable allelic replacement mutagenesis constructs, and thus greatly increased the speed and efficiency with which markerless mutations could be introduced into S...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/28587727/-sleep-bruxism-in-children
#12
A Camoin, C Tardieu, I Blanchet, J-D Orthlieb
Bruxism is defined as repetitive activity of the masticatory muscles, characterized by clenching the teeth or teeth grinding and/or by tapping and swaying. This study investigated sleep bruxism. The etiology is multifactorial: mainly central (neuropathic disorder, anxiety) but also genetic and local (posture, mouth breathing). The diagnosis is based primarily on the anamnesis and examination of dental wear and progression over time (photos and dental castings). A diagnostic guide is proposed in this article...
June 3, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28579010/-maxillary-buccal-and-dental-expressions-of-hyperparathyroidisms
#13
Jean-Louis Wémeau, Catherine Cardot-Bauters
States of chronic parathyroid hypersecretion, related to a primitive parathyroid abnormality (adenoma, hyperplasia), or to a cause of chronic calcipenia (renal failure, vitamin D deficiency…) have a major impact on bone remodeling, alveolodental structures. Thinning of the lamina dura, maxillary or mandibular brown tumors, giant cell epulis are the most emblematic signs of the primary hyperparathyroidism. Other expressions are related to genetic factors such as fibrous tumors of the jaw in conjunction with mutations in the gene coding for parafibromin...
June 1, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28566875/intermediate-type-of-juvenile-paget-s-disease-a-rare-case-in-indian-population
#14
S Ravi Raja Kumar, Bhavana S Bagalad, Ch Balakrishna Manohar, Puneeth H Kuberappa
Juvenile Paget's disease (JPD), a rare genetic skeletal disorder characterized by accelerated bone turnover with elevated levels of serum alkaline phosphatase, presents in early childhood. We report a female patient with typical features of JPD with dental finding who remained undiagnosed until 18 years of age. Scarcity of this disease in the Indian literature and need for timely diagnosis to avert progression of disease thus incited us to report this case.
January 2017: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/28561206/4h-leukodystrophy-a-brain-magnetic-resonance-imaging-scoring-system
#15
Suzanne Vrij-van den Bos, Janna A Hol, Roberta La Piana, Inga Harting, Adeline Vanderver, Frederik Barkhof, Ferdy Cayami, Wessel N van Wieringen, Petra J W Pouwels, Marjo S van der Knaap, Geneviève Bernard, Nicole I Wolf
4H (hypomyelination, hypodontia and hypogonadotropic hypogonadism) leukodystrophy (4H) is an autosomal recessive hypomyelinating white matter (WM) disorder with neurologic, dental, and endocrine abnormalities. The aim of this study was to develop and validate a magnetic resonance imaging (MRI) scoring system for 4H. A scoring system (0-54) was developed to quantify hypomyelination and atrophy of different brain regions. Pons diameter and bicaudate ratio were included as measures of cerebral and brainstem atrophy, and reference values were determined using controls...
June 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28555244/estimation-of-ancestry-for-an-undocumented-mandibular-sample-using-dental-morphology
#16
Luís Miguel Marado, Ana Maria Silva
Dental morphology is a useful resource in archaeology, anthropology and paleontology, due to its genetic determination. Teeth are a material of high durability and stability. This work aims to study the dental morphology and test the Portuguese and European biological affinities of an undocumented mandibular sample, through comparison with global and Iberian samples. The dental traits in 163 mandibles (kept at the Museum of Natural History of the University of Oporto, Portugal) were scored using a standardized methodology (ASUDAS: Arizona State University Dental Anthropology System) and compared to other world-wide and Iberian samples through Principal Components (PCA) and Mean Measure of Divergence analyses...
May 30, 2017: Anthropologischer Anzeiger; Bericht über die Biologisch-anthropologische Literatur
https://www.readbyqxmd.com/read/28547134/clinical-radiographic-and-biochemical-characteristics-of-adult-hypophosphatasia
#17
T Schmidt, H Mussawy, T Rolvien, T Hawellek, J Hubert, W Rüther, M Amling, F Barvencik
In this study, we report on clinical, radiographic and biochemical characteristics of 38 patients with adult hypophosphatasia. High-resolution peripheral quantitative computed tomography showed alterations of bone microstructure in a subgroup of 14 patients. Pyridoxal-5-phosphate levels correlated with the occurrence of fractures and the number of symptoms. INTRODUCTION: Hypophosphatasia (HPP) is a rare disorder with a wide range of clinical manifestations. A reduced enzymatic activity of alkaline phosphatase (ALP) is the key marker of the disease, causing an accumulation of ALP substrates such as pyridoxal-5-phosphate (PLP)...
May 25, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28538061/clinical-experience-of-treatment-of-facial-malformations-in-oto-palato-digital-syndrome-a-familial-patient
#18
Tomoe Kira-Koizumi, Nobuyuki Mitsukawa, Tadashi Morishita, Shinsuke Akita, Yoshitaka Kubota, Kaneshige Satoh
Oto-palato-digital syndrome type 1 (OPD1) is an X-linked recessive disorder comprising characteristic facial appearances and skeletal alterations. The authors report OPD1 in a mother and her 2 sons who had multiple common congenital anomalies. Both of the brothers were born with mild hearing impairment, frontal bossing with prominent supraorbital ridges, downslanting palpebral fissures, dental malocclusion, and palatal clefts. They underwent a series of aesthetic surgeries for their facial malformations with good cosmetic results...
June 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28536691/periostin-and-discoidin-domain-receptor-1-new-biomarkers-or-targets-for-therapy-of-renal-disease
#19
REVIEW
Niki Prakoura, Christos Chatziantoniou
Chronic kidney disease (CKD) can be a life-threatening condition, which eventually requires renal replacement therapy through dialysis or transplantation. A lot of effort and resources have been invested the last years in the identification of novel markers of progression and targets for therapy, in order to achieve a more efficient prognosis, diagnosis, and treatment of renal diseases. Using experimental models of renal disease, we identified and studied two promising candidates: periostin, a matricellular protein with high expression in bone and dental tissues, and discoidin domain receptor 1 (DDR1), a transmembrane collagen receptor of the tyrosine kinase family...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/28536534/a-bio-realistic-finite-element-model-to-evaluate-the-effect-of-masticatory-loadings-on-mouse-mandible-related-tissues
#20
Alexander Tsouknidas, Lucia Jimenez-Rojo, Evangelos Karatsis, Nikolaos Michailidis, Thimios A Mitsiadis
Mice are arguably the dominant model organisms for studies investigating the effect of genetic traits on the pathways to mammalian skull and teeth development, thus being integral in exploring craniofacial and dental evolution. The aim of this study is to analyse the functional significance of masticatory loads on the mouse mandible and identify critical stress accumulations that could trigger phenotypic and/or growth alterations in mandible-related structures. To achieve this, a 3D model of mouse skulls was reconstructed based on Micro Computed Tomography measurements...
2017: Frontiers in Physiology
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