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https://www.readbyqxmd.com/read/28547134/clinical-radiographic-and-biochemical-characteristics-of-adult-hypophosphatasia
#1
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
#2
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...
May 19, 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
#3
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
#4
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
https://www.readbyqxmd.com/read/28535364/dental-decay-phenotype-in-nonsyndromic-orofacial-clefting
#5
B J Howe, M E Cooper, G L Wehby, J M Resick, N L Nidey, L C Valencia-Ramirez, A M Lopez-Palacio, D Rivera, A R Vieira, S M Weinberg, M L Marazita, L M Moreno Uribe
Although children with oral clefts have a higher risk for dental anomalies when compared with the general population, prior studies have shown conflicting results regarding their dental decay risk. Also, few studies have assessed dental decay risk in unaffected relatives of children with clefts. Thus, the question of increased risk of dental decay in individuals with oral clefts or their unaffected relatives is still open for empirical investigation. This study characterizes dental decay in the largest international cohort to date of children with nonsyndromic clefts and their relatives, as compared with controls, and it addresses whether families with oral clefts have a significantly increased risk for dental decay versus the general population...
May 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28530170/k-modulates-genetic-competence-and-the-stress-regulon-of-streptococcus-mutans
#6
Gursonika Binepal, Iwona B Wenderska, Paula Crowley, Richard N Besingi, Dilani B Senadheera, L Jeannine Brady, Dennis G Cvitkovitch
Potassium (K+) is the most abundant cation in dental plaque fluid. Previously, we reported the link between K+ transport via Trk2 in Streptococcus mutans and its two critical virulence attributes: acid tolerance and surface adhesion. Herein, we build further on the intimate link between K+ levels and S. mutans biology. High (>25 mM) versus low (≤5 mM) K+ concentrations in the growth medium affected conformational epitopes of cell surface-localized adhesin P1. At low K+, the expression of stress response elements gcrR and codY, cell-adhesion-associated genes such as spaP and metabolism-associated genes such as bglP was induced at stationary phase (P<0...
May 22, 2017: Microbiology
https://www.readbyqxmd.com/read/28526785/effects-of-arginine-on-growth-virulence-gene-expression-and-stress-tolerance-by-streptococcus-mutans
#7
Brinta Chakraborty, Robert A Burne
Streptococcus mutans is a common constituent of oral biofilms and a primary etiologic agent of human dental caries. The bacteria associated with dental caries have a potent ability to produce organic acids from dietary carbohydrates and to grow and metabolize in acidic conditions. In contrast, many commensal bacteria produce ammonia through the arginine deiminase system (ADS), which moderates the pH of oral biofilms. Arginine metabolism by the ADS is a significant deterrent to the initiation and progression of dental caries...
May 19, 2017: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/28524601/huntington-s-disease-with-severe-neck-infection
#8
Shunsuke Hino, Takahiro Kaneko, Norio Horie, Tetsuo Shimoyama
OBJECTIVE: To present a case of Huntington's disease (HD) with severe neck infection. BACKGROUND: Huntington's disease (HD) is a progressive neurodegenerative genetic disorder and is often accompanied by dysphagia. MATERIALS AND METHODS: The patient was a 64-year-old man with HD. The severe neck infection was considered as one of the symptoms of HD. CONCLUSION: Clinicians should remember that patients with HD are apt to delay dental consultation, resulting in serious oral infections...
May 19, 2017: Gerodontology
https://www.readbyqxmd.com/read/28506885/high-proportions-of-staphylococcus-epidermidis-in-dental-caries-harbor-multiple-classes-of-antibiotics-resistance-significantly-increase-inflammatory-interleukins-in-dental-pulps
#9
Darshan Devang Divakar, Muzaheed, Sultan Salem Aldeyab, Sara A Alfawaz, Abdulaziz Abdullah AlKheraif, Aftab Ahmed Khan
Staphylococcus epidermidis is one of most prevalent in dental caries or dental pulp which has the capability of horizontal genetic transfer between different bacterial species in the oropharynx, suggesting that it may evolve with the dissemination of resistant determinants, This study was performed to molecularly characterize and differentiate S. epidermidis isolated from dental caries and healthy individual. Also, two important cytokines in inflammation were assayed caused due to S. epidermidis of health and dental caries sources...
May 12, 2017: Microbial Pathogenesis
https://www.readbyqxmd.com/read/28500952/isolation-and-characterization-of-lymphoid-enhancer-factor-1-positive-deciduous-dental-pulp-stem-like-cells-after-transfection-with-a-piggybac-vector-containing-lef1-promoter-driven-selection-markers
#10
Tomoya Murakami, Issei Saitoh, Masahiro Sato, Emi Inada, Miki Soda, Masataka Oda, Hisanori Domon, Yoko Iwase, Tadashi Sawami, Kazunari Matsueda, Yutaka Terao, Hayato Ohshima, Hirofumi Noguchi, Haruaki Hayasaki
OBJECTIVE: Lymphoid enhancer-binding factor-1 (LEF1) is a 48-kD nuclear protein that is expressed in pre-B and T cells. LEF1 is also an important member of the Wnt/β-catenin signaling pathway that plays important roles in the self-renewal and differentiation of embryonic stem cells. We speculated that LEF1 might function in the stem cells from human exfoliated deciduous teeth (SHED). In this study, we attempted to isolate such LEF1-positive cells from human deciduous dental pulp cells (HDDPCs) by genetic engineering technology, using the human LEF1 promoter...
May 7, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/28475963/variable-expressivity-of-tctex1d2-mutations-and-a-possible-pathogenic-link-of-molar-incisor-malformation-to-ciliary-dysfunction
#11
Johannes Zschocke, Anna Schossig, Dieter D Bosshardt, Daniela Karall, Rudolf Glueckert, Ines Kapferer-Seebacher
OBJECTIVE: Clarification of the molecular basis of a ciliopathy associated with molar-incisor malformation in a consanguineous Turkish family. DESIGN: Full dental and clinical examinations, histologic analysis, comprehensive genetic analyses including exome sequencing, ciliary function tests and transmission electron microscopy of ciliary biopsies in the surviving patient. RESULTS: Two siblings had situs inversus and complex heart defects suggestive of ciliary dysfunction...
April 20, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/28473967/natural-competence-is-common-among-clinical-isolates-of-veillonella-parvula-and-is-useful-for-genetic-manipulation-of-this-key-member-of-the-oral-microbiome
#12
Steven Knapp, Clint Brodal, John Peterson, Fengxia Qi, Jens Kreth, Justin Merritt
The six Veillonella species found in the human oral cavity are among the most abundant members of the oral flora, occurring in both supra- and subgingival dental plaque as well as on the oral mucosa. Epidemiological data have also implicated these species in the development of the most common oral diseases. Despite their ubiquity, abundance, and ecological significance, surprisingly little is known about Veillonella biology, largely due to the difficulties associated with their genetic manipulation. In an effort to improve genetic analyses of Veillonella species, we isolated a collection of veillonellae from clinical plaque samples and screened for natural competence using a newly developed transformation protocol...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/28466982/introduction-to-proceedings-of-healthy-futures-engaging-the-oral-health-community-in-childhood-obesity-prevention-national-conference
#13
Norman Tinanoff, Katrina Holt
OBJECTIVES: The Robert Wood Johnson Foundation (RWJF) has worked to ensure that all children have healthy weights. To promote this goal, the RWJF has supported the Healthy Futures: Engaging the Oral Health Community in Childhood Obesity Prevention National Conference, held on November 3-4, 2016, and the proceeding of this conference. The goals of the conference were to increase understanding of the science focusing on oral health and childhood obesity, increase understanding of how to prevent childhood obesity, and provide opportunities to network and plan activities to prevent childhood obesity...
May 3, 2017: Journal of Public Health Dentistry
https://www.readbyqxmd.com/read/28462180/prevalence-of-dentinogenesis-imperfecta-in-a-french-population
#14
Antoine Cassia, Georges Aoun, Abbass El-Outa, Gérard Pasquet, Robert Cavézian
BACKGROUND: Dentinogenesis imperfecta is a genetic disorder of the dentin occurring during the tooth development. It leads to many structural changes that can be identified clinically (brownish colored teeth, cracked enamel) and radiologically (globular crown, cervical constriction, short roots, and obliterated pulp chamber and/or root canals). The aim of this study was to determine by panoramic radiographs assessment the incidence of dentinogenesis imperfecta in a group of patients attending a specialized maxillofacial imaging center in Paris, France...
March 2017: Journal of International Society of Preventive & Community Dentistry
https://www.readbyqxmd.com/read/28461877/thalassemia-review-features-dental-considerations-and-management
#15
REVIEW
Nawal Helmi, Mawahib Bashir, Ayesha Shireen, Iffat Mirza Ahmed
Thalassemia is a genetic disorder that involves abnormal haemoglobin formation. The two main categories of thalassemia are alpha and beta thalassemia that are then divided into further subcategories. While some mild forms of thalassemia might even go unnoticed and only cause mild anaemia and iron deficiency problems in patients, other more severe forms of thalassemia can even result in death. Individuals with thalassemia can get treatment according to the level of severity of their condition. The main oral manifestations of thalassemia are Class II malocclusion, maxillary protrusion, high caries index, severe gingivitis...
March 2017: Electronic Physician
https://www.readbyqxmd.com/read/28459997/hypomorphic-mutations-in-polr3a-are-a-frequent-cause-of-sporadic-and-recessive-spastic-ataxia
#16
Martina Minnerop, Delia Kurzwelly, Holger Wagner, Anne S Soehn, Jennifer Reichbauer, Feifei Tao, Tim W Rattay, Michael Peitz, Kristina Rehbach, Alejandro Giorgetti, Angela Pyle, Holger Thiele, Janine Altmüller, Dagmar Timmann, Ilker Karaca, Martina Lennarz, Jonathan Baets, Holger Hengel, Matthis Synofzik, Burcu Atasu, Shawna Feely, Marina Kennerson, Claudia Stendel, Tobias Lindig, Michael A Gonzalez, Rüdiger Stirnberg, Marc Sturm, Sandra Roeske, Johanna Jung, Peter Bauer, Ebba Lohmann, Stefan Herms, Stefanie Heilmann-Heimbach, Garth Nicholson, Muhammad Mahanjah, Rajech Sharkia, Paolo Carloni, Oliver Brüstle, Thomas Klopstock, Katherine D Mathews, Michael E Shy, Peter de Jonghe, Patrick F Chinnery, Rita Horvath, Jürgen Kohlhase, Ina Schmitt, Michael Wolf, Susanne Greschus, Katrin Amunts, Wolfgang Maier, Ludger Schöls, Peter Nürnberg, Stephan Zuchner, Thomas Klockgether, Alfredo Ramirez, Rebecca Schüle
Despite extensive efforts, half of patients with rare movement disorders such as hereditary spastic paraplegias and cerebellar ataxias remain genetically unexplained, implicating novel genes and unrecognized mutations in known genes. Non-coding DNA variants are suspected to account for a substantial part of undiscovered causes of rare diseases. Here we identified mutations located deep in introns of POLR3A to be a frequent cause of hereditary spastic paraplegia and cerebellar ataxia. First, whole-exome sequencing findings in a recessive spastic ataxia family turned our attention to intronic variants in POLR3A, a gene previously associated with hypomyelinating leukodystrophy type 7...
June 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28459102/the-novel-asic2-locus-is-associated-with-severe-gingival-inflammation
#17
Shaoping Zhang, Kimon Divaris, Kevin Moss, Ning Yu, Silvana Barros, Julie Marchesan, Thiago Morelli, Cary Agler, Steven J Kim, Di Wu, Kari E North, James Beck, Steven Offenbacher
An increasing body of evidence suggests a significant genetic regulation of inflammatory response mechanisms; however, little is known regarding the genetic determinants of severe gingival inflammation (GI). We conducted a genome-wide association study of severe GI among 4077 European American adults, participants in the Dental Atherosclerosis Risk In Communities cohort. The severe GI trait was defined dichotomously using the 90(th) percentile of gingival index ≥2 extent score. Genotyping was performed with the Affymetrix 6...
July 2016: JDR Clinical and Translational Research
https://www.readbyqxmd.com/read/28447324/craniofacial-morphology-and-dental-maturity-in-children-with-reduced-somatic-growth-of-different-aetiology-and-the-effect-of-growth-hormone-treatment
#18
REVIEW
Sotiria Davidopoulou, Athina Chatzigianni
Children with reduced somatic growth may present various endocrinal diseases, especially growth hormone deficiency (GHD), idiopathic short stature (ISS), chromosomal aberrations, or genetic disorders. In an attempt to normalize the short stature, growth hormone (GH) is administered to these children. The aim of this literature review was to collect information about the craniofacial morphology and dental maturity in these children and to present the existing knowledge on the effect of GH treatment on the above structures...
December 2017: Progress in Orthodontics
https://www.readbyqxmd.com/read/28445870/klk4-gene-and-dental-decay-replication-in-a-south-brazilian-population
#19
Tayla Cavallari, Simone Tetu Moyses, Samuel Jorge Moyses, Renata Iani Werneck
OBJECTIVE: The objective of this research was to identify and replicate the participation of KLK4 gene polymorphisms in the susceptibility to dental decay. METHODS: A total of 200 patients were recruited using ICDAS criteria - 100 of them with dental caries and 100 with no history of the disease. Buccal cells were collected and the DNA was extracted and amplified using PCR. RESULTS: During the descriptive analysis, the variables ethnicity, biofilm, and gingivitis and the markers rs2242670 and rs2978642 were statistically significant...
April 27, 2017: Caries Research
https://www.readbyqxmd.com/read/28429476/periodontal-disease-and-the-special-needs-patient
#20
REVIEW
Louise F Brown, Pauline J Ford, Anne L Symons
Individuals with special needs are at more risk of dental disease, including periodontal diseases, and have a greater prevalence and incidence of periodontal diseases than the rest of the population. Genetic or medical conditions, and/or the use of prescription medication or recreational substances, may further increase the risk for susceptibility to periodontal disease. The success of preventing or controlling periodontal diseases amongst this group of patients has not been established. Even those individuals who access regular and comprehensive dental care appear to develop periodontal diseases as they age, and this development occurs at a rate comparable to the natural history of the disease...
June 2017: Periodontology 2000
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