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Dental genetics

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https://www.readbyqxmd.com/read/28343232/genetic-polymorphisms-in-defb1-and-mirna202-are-involved-in-salivary-human-%C3%AE-defensin-1-levels-and-caries-experience-in-children
#1
Andrea Lips, Leonardo Santos Antunes, Lívia Azeredo Antunes, Júlia Guimarães Barcellos de Abreu, Driely Barreiros, Daniela Silva Barroso de Oliveira, Ana Carolina Batista, Paulo Nelson-Filho, Léa Assed Bezerra da Silva, Raquel Assed Bezerra da Silva, Gutemberg Gomes Alves, Erika Calvano Küchler
The antimicrobial peptides human β-defensins (hBDs) are encoded by β-defensin genes (DEFBs) and are possibly involved in caries susceptibility. In this study we aimed (1) to investigate the relationship between salivary hBDs and caries and (2) to evaluate the association of genetic polymorphisms in DEFB1 and microRNA202 (miRNA202) with salivary levels of hBDs and caries experience. Two data sets were available for this study, totalizing 678 Brazilian children. Dental examination and saliva collection were performed in all included children...
March 25, 2017: Caries Research
https://www.readbyqxmd.com/read/28342734/integration-of-microbiome-and-epigenome-to-decipher-the-pathogenesis-of-autoimmune-diseases
#2
REVIEW
Beidi Chen, Luxi Sun, Xuan Zhang
The interaction between genetic predisposition and environmental factors are of great significance in the pathogenesis and development of autoimmune diseases (AIDs). The human mucosa is the most frequent site that interacts with the exterior environment, and commensal microbiota at the gut and other human mucosal cavities play a crucial role in the regulation of immune system. Growing evidence has shown that the compositional and functional changes of mucosal microbiota are closely related to AIDs. Gut dysbiosis not only influence the expression level of Toll-like receptors (TLRs) of antigen presenting cells, but also contribute to Th17/Treg imbalance...
March 22, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28338720/from-teeth-to-baleen-and-raptorial-to-bulk-filter-feeding-in-mysticete-cetaceans-the-role-of-paleontological-genetic-and-geochemical-data-in-feeding-evolution-and-ecology
#3
Annalisa Berta, Agnese Lanzetti, Eric G Ekdale, Thomas A Deméré
The origin of baleen and filter feeding in mysticete cetaceans occurred sometime between approximately 34 and 24 million years ago and represents a major macroevolutionary shift in cetacean morphology (teeth to baleen) and ecology (raptorial to filter feeding). We explore this dramatic change in feeding strategy by employing a diversity of tools and approaches: morphology, molecules, development, and stable isotopes from the geological record. Adaptations for raptorial feeding in extinct toothed mysticetes provide the phylogenetic context for evaluating morphological apomorphies preserved in the skeletons of stem and crown edentulous mysticetes...
December 16, 2016: Integrative and Comparative Biology
https://www.readbyqxmd.com/read/28338025/preventing-perioperative-bleeding-in-patients-with-inherited-bleeding-disorders
#4
Colin Watterson, Nicholas Beacher
Data sourcesCochrane Cystic Fibrosis and Genetic Disorders Group's Coagulopathies Trials Register, a regularly updated database informed by trials identified within electronic databases including MEDLINE. Further defined searches were undertaken in PubMed, Embase, The Cochrane Library, ClinicalTrials.gov and WHO International Clinical Trials Registry Platform. Additional hand searching of relevant journals and books of conference proceedings was undertaken.Study selectionRandomised and quasi-randomised controlled trials in people of all ages with haemophilia or VWD undergoing oral or dental procedures using antifibrinolytic agents (tranexamic acid (TXA) or epsilon aminocaproic acid (EACA)) to prevent perioperative bleeding compared to no intervention with or without placebo...
March 2017: Evidence-based Dentistry
https://www.readbyqxmd.com/read/28331230/dentin-sialoprotein-facilitates-dental-mesenchymal-cell-differentiation-and-dentin-formation
#5
Wentong Li, Lei Chen, Zhuo Chen, Lian Wu, Junsheng Feng, Feng Wang, Lisa Shoff, Xin Li, Kevin J Donly, Mary MacDougall, Shuo Chen
Dentin sialoprotein (DSP) is a dentin extracellular matrix protein. It is involved in dental mesenchymal cell lineages and dentin formation through regulation of its target gene expression. DSP mutations cause dentin genetic diseases. However, mechanisms of DSP in controlling dental mesenchymal cell differentiation are unknown. Using DSP as bait, we screened a protein library from mouse odontoblastic cells and found that DSP is a ligand and binds to cell surface receptor, occludin. Further study identified that the C-terminal DSP domain(aa 363-458) interacts with the occludin extracellular loop 2(aa 194-241)...
March 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28330575/clinical-management-of-the-homozygous-%C3%AE-thalassemia-with-unusual-mandibular-manifestation-of-hematopoiesis
#6
J A Ruiz-Roca, R E Oñate-Sánchez, I Urrutia-Rodríguez, A Martínez-Izquierdo, D Mengual-Pujante, F J Rodríguez-Lozano
Alpha (α)-thalassemias are the most common genetic disorder of hemoglobin (Hb) synthesis, affecting up to 5% of the world's population. These congenital hemolytic anemias induce extramedullary hematopoiesis, including the liver, spleen, sinuses, and the diploic spaces of the skull. Oral health problems in patients with thalassemias are mostly related to a varied degree of facial deformities, malocclusions, and/or dental arch dimensions. We present a case with a 49-year-old man, diagnosed with homozygous α thalassemia that came to the Faculty of Dentistry at the University of Murcia for a dental treatment...
February 2017: J Stomatol Oral Maxillofac Surg
https://www.readbyqxmd.com/read/28321341/singleton-merten-syndrome-a-rare-cause-of-early-onset-aortic-stenosis
#7
Harshavardhan Ghadiam, Sudhir Mungee
Singleton Merten syndrome (SMS) is a rare autosomal dominant genetic disorder with variable expression. Its characteristic features include abnormal aortic calcification, abnormal ossification of extremities, and dental anomalies. We present a young man with dyspnea who was noted to have aortic stenosis in the background of glaucoma, psoriasis, dental anomalies, hand and foot deformities, Achilles tendinitis, osteopenia, and nephrolithiasis. The conglomeration of features led to the diagnosis of SMS. His mother had a very similar phenotype...
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28319210/oculo-dento-digital-dysplasia-oddd-due-to-a-gja1-mutation-report-of-a-case-with-emphasis-on-dental-manifestations
#8
Christina Hadjichristou, Violetta Christophidou-Anastasiadou, Athina Bakopoulou, George A Tanteles, Maria A Loizidou, Kyriacos Kyriacou, Andreas Hadjisavvas, Konstantinos Michalakis, Argyris Pissiotis, Petros Koidis
Oculo-dento-digital dysplasia (ODDD) is a congenital disorder manifesting with multiple phenotypic abnormalities involving the face, eyes, teeth, and limbs in addition to neurologic symptomatology. This report aims to present a female patient with ODDD who was referred due to extensive oral restorative needs. The presence of hypoplastic enamel triggered further evaluation. Characteristic facies with hypoplastic alae nasi and syndactyly offered greater insight into the phenotype of the syndrome. Clinical suspicion was confirmed by genetic sequencing revealing heterozygous mutation in GJA1...
March 20, 2017: International Journal of Prosthodontics
https://www.readbyqxmd.com/read/28316926/apert-syndrome-with-s252w-fgfr2-mutation-and-characterization-using-phenomizer-an-indian-case-report
#9
Fulesh Kunwar, Shikha Tewari, Sonal R Bakshi
Human genetic disease needs differential diagnosis to optimize clinical management, enable prenatal detection, and genetic counselling. The current methods of robust DNA sequencing also require next generation phenotyping to match with for better interpretation of genotypic and phenotypic heterogeneity commonly observed. We report use of human ontology based phenotypic characterization with Phenomizer that gives statistical score for possible diagnoses based on which, the gene mutation was studied. A case of craniosynostosis which refers to a group of syndromes characterized by a premature fusion of skull was studied...
January 2017: Journal of Oral Biology and Craniofacial Research
https://www.readbyqxmd.com/read/28298625/periodontal-disease-and-fam20a-mutations
#10
Piranit Nik Kantaputra, Chotika Bongkochwilawan, Mark Lubinsky, Supansa Pata, Massupa Kaewgahya, Huei Jinn Tong, James R Ketudat Cairns, Yeliz Guven, Nipon Chaisrisookumporn
Enamel-renal-gingival syndrome (ERGS; OMIM #204690), a rare autosomal recessive disorder caused by mutations in FAM20A, is characterized by nephrocalcinosis, nephrolithiasis, amelogenesis imperfecta, hypoplastic type, gingival fibromatosis and other dental abnormalities, including hypodontia and unerupted teeth with large dental follicles. We report three patients and their families with findings suggestive of ERGS. Mutation analysis of FAM20A was performed in all patients and their family members. Patients with homozygous frameshift and compound heterozygous mutations in FAM20A had typical clinical findings along with periodontitis...
March 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28275354/in-vitro-acid-mediated-initial-dental-enamel-loss-is-associated-with-genetic-variants-previously-linked-to-caries-experience
#11
Alexandre R Vieira, Merve Bayram, Figen Seymen, Regina C Sencak, Frank Lippert, Adriana Modesto
We have previously shown that AQP5 and BTF3 genetic variation and expression in whole saliva are associated with caries experience suggesting that these genes may have a functional role in protecting against caries. To further explore these results, we tested ex vivo if variants in these genes are associated with subclinical dental enamel mineral loss. DNA and enamel samples were obtained from 53 individuals. Enamel samples were analyzed for Knoop hardness of sound enamel, integrated mineral loss after subclinical carious lesion creation, and change in integrated mineral loss after remineralization...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28273061/neanderthal-behaviour-diet-and-disease-inferred-from-ancient-dna-in-dental-calculus
#12
Laura S Weyrich, Sebastian Duchene, Julien Soubrier, Luis Arriola, Bastien Llamas, James Breen, Alan G Morris, Kurt W Alt, David Caramelli, Veit Dresely, Milly Farrell, Andrew G Farrer, Michael Francken, Neville Gully, Wolfgang Haak, Karen Hardy, Katerina Harvati, Petra Held, Edward C Holmes, John Kaidonis, Carles Lalueza-Fox, Marco de la Rasilla, Antonio Rosas, Patrick Semal, Arkadiusz Soltysiak, Grant Townsend, Donatella Usai, Joachim Wahl, Daniel H Huson, Keith Dobney, Alan Cooper
Recent genomic data have revealed multiple interactions between Neanderthals and modern humans, but there is currently little genetic evidence regarding Neanderthal behaviour, diet, or disease. Here we describe the shotgun-sequencing of ancient DNA from five specimens of Neanderthal calcified dental plaque (calculus) and the characterization of regional differences in Neanderthal ecology. At Spy cave, Belgium, Neanderthal diet was heavily meat based and included woolly rhinoceros and wild sheep (mouflon), characteristic of a steppe environment...
March 8, 2017: Nature
https://www.readbyqxmd.com/read/28266117/nutrition-dental-caries-and-periodontal-disease-a-narrative-review
#13
Philippe P Hujoel, Peter Lingström
AIM: To provide a narrative review of the role of macro- and micronutrients in relation to dental caries, gingival bleeding and destructive periodontal disease. MATERIALS & METHODS: This review is based on systematic reviews (when available) and comparative human studies. RESULTS: Dental caries cannot develop without the presence of dietary fermentable carbohydrates, in particular sugar. The susceptibility to develop caries in the presence of carbohydrates may be influenced by genetics and micronutrients such as vitamin D...
March 2017: Journal of Clinical Periodontology
https://www.readbyqxmd.com/read/28266114/interaction-of-lifestyle-behaviour-or-systemic-diseases-with-dental-caries-and-periodontal-diseases-consensus-report-of-group-2-of-the-joint-efp-orca-workshop-on-the-boundaries-between-caries-and-periodontal-diseases
#14
Iain L C Chapple, Philippe Bouchard, Maria Grazia Cagetti, Guglielmo Campus, Maria-Clotilde Carra, Fabio Cocco, Luigi Nibali, Philippe Hujoel, Marja L Laine, Peter Lingstrom, David J Manton, Eduardo Montero, Nigel Pitts, Hélène Rangé, Nadine Schlueter, Wim Teughels, Svante Twetman, Cor Van Loveren, Fridus Van der Weijden, Alexandre R Vieira, Andreas G Schulte
Periodontal diseases and dental caries are the most common diseases of humans and the main cause of tooth loss. Both diseases can lead to nutritional compromise and negative impacts upon self-esteem and quality of life. As complex chronic diseases, they share common risk factors, such as a requirement for a pathogenic plaque biofilm, yet they exhibit distinct pathophysiologies. Multiple exposures contribute to their causal pathways, and susceptibility involves risk factors that are inherited (e.g. genetic variants), and those that are acquired (e...
March 2017: Journal of Clinical Periodontology
https://www.readbyqxmd.com/read/28264332/description-of-a-new-species-of-i-neoromicia-i-chiroptera-vespertilionidae-%C3%A2-from-southern-africa-a-name-for-i-n-cf-melckorum-i
#15
Steven M Goodman, Teresa Kearney, Malalatiana Michèle Ratsimbazafy, Alexandre Hassanin
The taxonomy of sub-Saharan small insectivore bats of the family Vespertilionidae is unresolved and currently five named species of the genus Neoromicia are recognized from southern Africa, with N. melckorum considered a synonym of N. capensis. Since several years, the name "N. cf. melckorum" has been used in the literature to designate an apparently undescribed and moderately large bodied vespertilionid bat known from different localities in southern and southeastern Africa. Using new data from molecular genetics, bacular morphology, and cranio-dental characters, we conclude that N...
February 22, 2017: Zootaxa
https://www.readbyqxmd.com/read/28258662/a-novel-gja1-mutation-in-oculodentodigitaldysplasia-with-extensive-loss-of-enamel
#16
Thantrira Porntaveetus, Chalurmpon Srichomthong, Atsushi Ohazama, Kanya Suphapeetiporn, Vorasuk Shotelersuk
OBJECTIVE: To characterize clinical features and identify genetic causes of a patient with oculodentodigital dysplasia (ODDD) SUBJECTS AND METHODS: Clinical, dental, radiological features were obtained. DNA was collected from an affected Thai family. Whole Exome Sequencing (WES) was employed to identify the disease-causing mutation causing ODDD. The presence of the identified variant was confirmed by Sanger sequencing. RESULTS: The proband suffered with extensive enamel hypoplasia, polysyndactyly and clinodactyly of the 3(rd) -5(th) fingers, microphthalmia, and unique facial characteristics of ODDD...
March 4, 2017: Oral Diseases
https://www.readbyqxmd.com/read/28257744/twenty-year-follow-up-of-a-familial-case-of-pth1r-associated-primary-failure-of-tooth-eruption
#17
Cláudia Misue Kanno, José Américo de Oliveira, José Fernando Garcia, Helmut Roth, Bernhard H F Weber
INTRODUCTION: Nonsyndromic primary failure of eruption (PFE) is a rare autosomal dominant disorder of dental eruption with no obvious dental or soft tissue interference. The purposes of this study were to genetically and clinically characterize a family with many members affected by PFE and to describe the natural evolution of the disorder. METHODS: Three generations of a family with 18 members, 10 of them clinically affected by PFE, were evaluated periodically during 20 years of clinical follow-up...
March 2017: American Journal of Orthodontics and Dentofacial Orthopedics
https://www.readbyqxmd.com/read/28257739/candidate-gene-analyses-of-3-dimensional-dentoalveolar-phenotypes-in-subjects-with-malocclusion
#18
Cole A Weaver, Steven F Miller, Clarissa S G da Fontoura, George L Wehby, Brad A Amendt, Nathan E Holton, Veeratrishul Allareddy, Thomas E Southard, Lina M Moreno Uribe
INTRODUCTION: Genetic studies of malocclusion etiology have identified 4 deleterious mutations in genes DUSP6,ARHGAP21, FGF23, and ADAMTS1 in familial Class III cases. Although these variants may have large impacts on Class III phenotypic expression, their low frequency (<1%) makes them unlikely to explain most malocclusions. Thus, much of the genetic variation underlying the dentofacial phenotypic variation associated with malocclusion remains unknown. In this study, we evaluated associations between common genetic variations in craniofacial candidate genes and 3-dimensional dentoalveolar phenotypes in patients with malocclusion...
March 2017: American Journal of Orthodontics and Dentofacial Orthopedics
https://www.readbyqxmd.com/read/28257225/dental-space-deficiency-syndrome-an-anthropological-perspective
#19
Colin S Richman
A new syndrome in dentistry, the dental space deficiency syndrome is proposed in this article. Signs and symptoms of this entity may include one or more of the following clinical dental features: tooth crowding, gingival recession, tooth impactions, rapid resorption of facial alveolar bony plates following premature tooth loss, dentally oriented sleep disorders, extended orthodontic treatment time, and malocclusion relapse following orthodontic therapy. These oral conditions, individually or collectively, seem to be associated with both genetic and functional factors...
March 2017: Compendium of Continuing Education in Dentistry
https://www.readbyqxmd.com/read/28253872/midwestern-latino-caregivers-knowledge-attitudes-and-sense-making-of-the-oral-health-etiology-prevention-and-barriers-that-inhibit-their-children-s-oral-health-a-cbpr-approach
#20
Kimberly K Walker, E Angeles Martínez-Mier, Armando E Soto-Rojas, Richard D Jackson, Sarah M Stelzner, Lorena C Galvez, Gabriela J Smith, Miriam Acevedo, Laura Dandelet, Dulce Vega
BACKGROUND: Using community-based participatory research, the Health Protection Model was used to understand the cultural experiences, attitudes, knowledge and behaviors surrounding caries etiology, its prevention and barriers to accessing oral health care for children of Latino parents residing in Central Indiana. METHODS: A community reference group (CBPR) was established and bi-lingual community research associates were used to conduct focus groups comprised of Latino caregivers...
March 2, 2017: BMC Oral Health
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