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Dental genetics

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https://www.readbyqxmd.com/read/29326517/18p-deletion-syndrome-case-report-with-clinical-consideration-and-management
#1
Megha Goyal, Mayuri Jain, Sachin Singhal, Kirty Nandimath
18p deletion syndrome is characterized by the deletion of short arm of chromosome 18. Presentation of this syndrome is quite variable with dysmorphic features, growth deficiencies, and mental retardation with poor verbal performance. Few patients even fail to thrive when malformations involving the heart and brain are severe. In the present article, we report an isolated case of 18p deletion in a 23-year-old female who for the first time reported to the hospital for dental problems. The patient was short statured with mental retardation and craniofacial, skeletal, dental, and endocrinal abnormalities...
October 2017: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/29318754/coordination-of-bilateral-tooth-replacement-in-the-juvenile-gecko-is-continuous-with-in-ovo-patterning
#2
Theresa M Grieco, Joy M Richman
We performed a test of how function impacts a genetically programmed process that continues into postnatal life. Using the dentition of the polyphyodont gecko as our model, tooth shedding was recorded longitudinally across the jaw. We compared two time periods: one in which teeth were patterned symmetrically in ovo and a later period when teeth were initiated post-hatching. By pairing shedding events on the right and left sides, we found the patterns of tooth loss are symmetrical and stable between periods, with only subtle deviations...
January 10, 2018: Evolution & Development
https://www.readbyqxmd.com/read/29316383/effectiveness-of-a-web-based-personalized-rheumatoid-arthritis-risk-tool-with-or-without-a-health-educator-for-knowledge-of-ra-risk-factors
#3
Maria G Prado, Maura D Iversen, Zhi Yu, Rachel Miller Kroouze, Nellie A Triedman, Sarah S Kalia, Bing Lu, Robert C Green, Elizabeth W Karlson, Jeffrey A Sparks
OBJECTIVE: To assess knowledge of rheumatoid arthritis (RA) risk factors among unaffected first-degree relatives (FDRs) and to study whether a personalized RA education tool increases risk factor knowledge. METHODS: We performed a randomized controlled trial assessing RA educational interventions among 238 FDRs. The web-based Personalized Risk Estimator for RA (PRE-RA) tool displayed personalized RA risk results (genetics, autoantibodies, demographics, and behaviors) and educated about risk factors...
January 5, 2018: Arthritis Care & Research
https://www.readbyqxmd.com/read/29313816/osteopontin-regulates-dentin-and-alveolar-bone-development-and-mineralization
#4
B L Foster, M Ao, C R Salmon, M B Chavez, T N Kolli, A B Tran, E Y Chu, K R Kantovitz, M Yadav, S Narisawa, J L Millán, F H Nociti, M J Somerman
The periodontal complex is essential for tooth attachment and function and includes the mineralized tissues, cementum and alveolar bone, separated by the unmineralized periodontal ligament (PDL). To gain insights into factors regulating cementum-PDL and bone-PDL borders and protecting against ectopic calcification within the PDL, we employed a proteomic approach to analyze PDL tissue from progressive ankylosis knock-out (Ank-/-) mice, featuring reduced PPi, rapid cementogenesis, and excessive acellular cementum...
December 4, 2017: Bone
https://www.readbyqxmd.com/read/29302051/genetic-mapping-of-molar-size-relations-identifies-inhibitory-locus-for-third-molars-in-mice
#5
Nicolas Navarro, A Murat Maga
Molar size in Mammals shows considerable disparity and exhibits variation similar to that predicted by the Inhibitory Cascade model. The importance of such developmental systems in favoring evolutionary trajectories is also underlined by the fact that this model can predict macroevolutionary patterns. Using backcross mice, we mapped QTL for molar sizes controlling for their sequential development. Genetic controls for upper and lower molars appear somewhat similar, and regions containing genes implied in dental defects drive this variation...
January 5, 2018: Heredity
https://www.readbyqxmd.com/read/29299963/extending-genome-wide-association-study-results-to-test-classic-anthropological-hypotheses-human-third-molar-agenesis-and-the-probable-mutation-effect
#6
Adrijana Vukelic, Jacob A Cohen, Alexis P Sullivan, George H Perry
A genome-wide association study (GWAS) identifies regions of the genome that likely affect the variable state of a phenotype of interest. These regions can then be studied with population genetic methods to make inferences about the evolutionary history of the trait. There are increasing opportunities to use GWAS results-even from clinically motivated studies-for tests of classic anthropological hypotheses. One such example, presented here as a case study for this approach, involves tooth development variation related to dental crowding...
April 2017: Human Biology
https://www.readbyqxmd.com/read/29290679/heredity-genetics-and-orthodontics-how-much-has-this-research-really-helped
#7
James K Hartsfield, George Jeryn Jacob, Lorri Ann Morford
Uncovering the genetic factors that correlate with a clinical deviation of previously unknown etiology helps to diminish the unknown variation influencing the phenotype. Clinical studies, particularly those that consider the effects of an appliance or treatment regimen on growth, need to be a part of these types of genetic investigations in the future. While the day-to-day utilization of "testing" for genetic factors is not ready for practice yet, genetic testing for monogenic traits such as Primary Failure of Eruption (PFE) and Class III malocclusion is showing more promise as knowledge and technology advances...
December 2017: Seminars in Orthodontics
https://www.readbyqxmd.com/read/29282653/oral-health-in-geroscience-animal-models-and-the-aging-oral-cavity
#8
REVIEW
Jonathan Y An, Richard Darveau, Matt Kaeberlein
Age is the single greatest risk factor for many diseases, including oral diseases. Despite this, a majority of preclinical oral health research has not adequately considered the importance of aging in research aimed at the mechanistic understanding of oral disease. Here, we have attempted to provide insights from animal studies in the geroscience field and apply them in the context of oral health research. In particular, we discuss the relationship between the biology of aging and mechanisms of oral disease...
December 27, 2017: GeroScience
https://www.readbyqxmd.com/read/29280744/update-on-the-genetics-of-idiopathic-hypogonadotropic-hypogonadism
#9
A Kemal Topaloğlu
Traditionally, idiopathic hypogonadotropic hypogonadism (IHH) is divided into two major categories: Kallmann syndrome (KS) and normosmic IHH (nIHH). To date, inactivating variants in more than 50 genes have been reported to cause IHH. These mutations are estimated to account for up to 50% of all apparently hereditary cases. Identification of further causative gene mutations is expected to be more feasible with the increasing use of whole exome/genome sequencing. Presence of more than one IHH-associated mutant gene in a given patient/pedigree (oligogenic inheritance) is seen in 10-20% of all IHH cases...
December 27, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29277980/investigating-cross-contamination-by-yeast-strains-from-dental-solid-waste-to-waste-handling-workers-by-dna-sequencing
#10
Cristina Dutra Vieira, Thaysa Leite Tagliaferri, Maria Auxiliadora Roque de Carvalho, Maria Aparecida de Resende-Stoianoff, Rodrigo Assuncao Holanda, Thais Furtado Ferreira de Magalhães, Paula Prazeres Magalhães, Simone Gonçalves Dos Santos, Luiz de Macêdo Farias
Trying to widen the discussion on the risks associated with dental waste, this study proposed to investigate and genetically compare yeast isolates recovered from dental solid waste and waste workers. Three samples were collected from workers' hands, nasal mucosa, and professional clothing (days 0, 30, and 180), and two from dental waste (days 0 and 180). Slide culture, microscopy, antifungal drug susceptibility, intersimple sequence repeat analysis, and amplification and sequencing of internal transcribed spacer regions were performed...
December 26, 2017: MicrobiologyOpen
https://www.readbyqxmd.com/read/29273718/successful-reconstruction-of-whole-mitochondrial-genomes-from-ancient-central-america-and-mexico
#11
Ana Y Morales-Arce, Courtney A Hofman, Ana T Duggan, Adam K Benfer, M Anne Katzenberg, Geoffrey McCafferty, Christina Warinner
The northern and southern peripheries of ancient Mesoamerica are poorly understood. There has been speculation over whether borderland cultures such as Greater Nicoya and Casas Grandes represent Mesoamerican outposts in the Isthmo-Colombian area and the Greater Southwest, respectively. Poor ancient DNA preservation in these regions challenged previous attempts to resolve these questions using conventional genetic techniques. We apply advanced in-solution mitogenome capture and high-throughput sequencing to fourteen dental samples obtained from the Greater Nicoya sites of Jícaro and La Cascabel in northwest Costa Rica (n = 9; A...
December 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29248934/proteomic-mapping-of-dental-enamel-matrix-from-inbred-mouse-strains-unraveling-potential-new-players-in-enamel
#12
Aline Lima Leite, Mileni Silva Fernandes, Senda Charone, Gary Milton Whitford, Eric T Everett, Marília Afonso Rabelo Buzalaf
Enamel formation is a complex 2-step process by which proteins are secreted to form an extracellular matrix, followed by massive protein degradation and subsequent mineralization. Excessive systemic exposure to fluoride can disrupt this process and lead to a condition known as dental fluorosis. The genetic background influences the responses of mineralized tissues to fluoride, such as dental fluorosis, observed in A/J and 129P3/J mice. The aim of the present study was to map the protein profile of enamel matrix from A/J and 129P3/J strains...
December 16, 2017: Caries Research
https://www.readbyqxmd.com/read/29245125/delayed-type-hypersensitivity-to-metals-in-connective-tissue-diseases-and-fibromyalgia
#13
REVIEW
Geir Bjørklund, Maryam Dadar, Jan Aaseth
Rheumatic diseases include a group of autoimmune disorders with environmental and genetic etiology that are characterized as a subgroup of connective tissue diseases (CTD). Rheumatoid arthritis (RA) often involves the small joints of the hands in a symmetrical fashion that can lead to loss of joint function, and RA, as well as Sjögren's syndrome (SS) and other rheumatic diseases, are often accompanied by sensitivity to metals. Numerous investigations on metal sensitivity were evaluated in this review. A detailed metal exposure history was collected by different evaluation of studies...
December 12, 2017: Environmental Research
https://www.readbyqxmd.com/read/29244957/hypercementosis-associated-with-enpp1-mutations-and-gaci
#14
V Thumbigere-Math, A Alqadi, N I Chalmers, M B Chavez, E Y Chu, M T Collins, C R Ferreira, K FitzGerald, R I Gafni, W A Gahl, K S Hsu, M S Ramnitz, M J Somerman, S G Ziegler, B L Foster
Mineralization of bones and teeth is tightly regulated by levels of extracellular inorganic phosphate (Pi) and pyrophosphate (PPi). Three regulators that control pericellular concentrations of Pi and PPi include tissue-nonspecific alkaline phosphatase (TNAP), progressive ankylosis protein (ANK), and ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). Inactivation of these factors results in mineralization disorders affecting teeth and their supporting structures. This study for the first time analyzed the effect of decreased PPi on dental development in individuals with generalized arterial calcification of infancy (GACI) due to loss-of-function mutations in the ENPP1 gene...
December 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/29237585/evaluating-the-dental-caries-related-information-on-brazilian-websites-qualitative-study
#15
Patricia Estefania Ayala Aguirre, Melina Martins Coelho, Daniela Rios, Maria Aparecida Andrade Moreira Machado, Agnes Fátima Pereira Cruvinel, Thiago Cruvinel
BACKGROUND: Dental caries is the most common chronic oral disease, affecting 2.4 billion people worldwide who on average have 2.11 decayed, missing, or filled teeth. It impacts the quality of life of patients, socially and economically. However, the comprehension of dental caries may be difficult for most people, as it involves a multifactorial etiology with the interplay between the tooth surface, the dental biofilm, dietary fermentable carbohydrates, and genetic and behavioral factors...
December 13, 2017: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/29214886/clinical-and-molecular-aspects-of-lead-toxicity-an-update
#16
Prasenjit Mitra, Shailja Sharma, Purvi Purohit, Praveen Sharma
Lead toxicity is a major public health issue in developed and developing countries. Both acute and chronic lead exposure has the potential to cause many deleterious systematic effects including hypertension, frank anemia, cognitive deficits, infertility, immune imbalances, delayed skeletal and deciduous dental development, vitamin D deficiency, and gastrointestinal effects. The underlying mechanisms for all these systemic effects have not been elucidated completely. However, the most plausible cause is free radical damage...
November 2017: Critical Reviews in Clinical Laboratory Sciences
https://www.readbyqxmd.com/read/29211365/oral-cavity-health-among-cystic-fibrosis-patients-literature-overview
#17
REVIEW
Katarzyna Herman, Małgorzata Kowalczyk-Zając, Tomasz Pytrus
Cystic fibrosis is a genetic disorder in which the mutation of the Cystis Fibrosis Transmembrane Conductance Regulator (CFTR) gene that codes the protein forming a chloride channel of epithelial cells results in its distorted functioning. The manifestations of the disorder are mainly observed in the respiratory and digestive system. Accumulation of sticky and thick mucus is the dominant clinical symptom; it leads to chronic infections and gradual tissue destruction. Although cystic fibrosis remains incurable, it is currently feasible to extend patients' life expectancy thanks to modern therapy possibilities...
October 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29210663/dna-methylation-a-frontier-in-tooth-organogenesis-and-developmental-dental-defects
#18
Liwei Zheng, Hongyu Li, Zhou Yachuan, Wei Du, Xin Xu, Ling Ye, Xuedong Zhou, Mian Wan
Tooth development relies on interactions between epithelial and mesenchymal tissues, which is controlled by sophisticated networks of conserved signaling. The signaling networks regulating odontogenesis have been well characterized, but the mechanisms underlying remain to be elucidated. Researches on mammals have revealed that the genomic methylation, which occurs on cytosine residues, regulates certain genes transcription. Consequently, DNA methylation plays a crucial role in spatiotemporal organization of signaling pathways, and is essential for organogenesis...
December 6, 2017: Current Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/29207377/polymorphisms-in-nonamelogenin-enamel-matrix-genes-are-associated-with-dental-fluorosis
#19
Erika Calvano Küchler, Carolina Dea Bruzamolin, Marjorie Ayumi Omori, Marcelo C Costa, Leonardo Santos Antunes, Giovana Daniela Pecharki, Paula Cristina Trevilatto, Alexandre Rezende Vieira, João Armando Brancher
The aim of this study was to evaluate whether genetic polymorphisms in AMELX, AMBN, ENAM, TFIP11, and TUFT1 genes are associated with dental fluorosis (DF). A total of 1,017 children from 2 Brazilian cohorts were evaluated. These populations lived in cities with fluoridation of public water supplies. DF was assessed in erupted permanent teeth using the modified Dean index. The polymorphisms rs946252, rs12640848, rs4694075, rs5997096, and rs4970957 were analyzed by real-time PCR from genomic DNA. Associations between DF, genotype, and allele distribution were evaluated using the χ2 test, with an alpha of 5%...
December 6, 2017: Caries Research
https://www.readbyqxmd.com/read/29191562/genetic-and-lifestyle-dependent-dental-caries-defined-by-the-acidic-proline-rich-protein-genes-prh1-and-prh2
#20
Nicklas Strömberg, Anders Esberg, Nongfei Sheng, Lena Mårell, Anna Löfgren-Burström, Karin Danielsson, Carina Källestål
Dental caries is a chronic infectious disease that affects billions of people with large individual differences in activity. We investigated whether PRH1 and PRH2 polymorphisms in saliva acidic proline-rich protein (PRP) receptors for indigenous bacteria match and predict individual differences in the development of caries. PRH1 and PRH2 variation and adhesion of indigenous and cariogenic (Streptococcus mutans) model bacteria were measured in 452 12-year-old Swedish children along with traditional risk factors and related to caries at baseline and after 5-years...
November 22, 2017: EBioMedicine
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