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https://www.readbyqxmd.com/read/28226328/a-de-novo-pericentric-inversion-in-chromosome-4-associated-with-disruption-of-pitx2-and-a-microdeletion-in-4p15-2-in-a-patient-with-axenfeld-rieger-syndrome-and-developmental-delay
#1
Živilė Maldžienė, Eglė Preikšaitienė, Salomėja Ignotienė, Natalija Kapitanova, Algirdas Utkus, Vaidutis Kučinskas
Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of autosomal dominantly inherited malformations that predominantly affect the eye but are also associated with craniofacial dysmorphism and dental abnormalities. A broad spectrum of genetic alterations involving PITX2 and FOXC1 lead to ARS. We report on a 4-year-old girl with clinical features of ARS and developmental delay due to a de novo apparently balanced pericentric inversion in chromosome 4. This report emphasizes that complementary investigations are necessary to precisely characterize chromosomal rearrangements...
February 23, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28210435/role-of-thr399ile-and-asp299gly-polymorphisms-of-toll-like-receptor-4-gene-in-acute-dental-abscess
#2
Ebrahim Miri-Moghaddam, Narges Farhad-Mollashahi, Elnaz Baghaee, Ali Bazi, Yasaman Garme
BACKGROUND: Apical Periodontitis (AP) is an inflammatory disease that affects the tissues surrounding the root end of a tooth. The disease which is caused by endodontic infections presents in different clinical ways including development of an acute abscess. Recent studies have provided information suggesting role of a multitude of factors in pathogenesis of acute apical abscess (AAA). In this case-control study, our goal was to evaluate the frequency and potential role of two common polymorphisms of toll like receptor-4 (TLR-4) gene; Thr399Ile (1196 C>T) and Asp299Gly (+896 A>G), in 50 patients with AAA as cases and 50 patients with asymptomatic apical periodontitis (AAP) as controls...
February 2017: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/28204848/nonsyndromic-oligodontia-does-the-tooth-agenesis-code-tac-enable-prediction-of-the-causative-mutation
#3
Niko C Bock, Sarah Lenz, Gisela Ruiz-Heiland, Sabine Ruf
OBJECTIVES: The literature suggests an association between phenotype and causative mutation in nonsyndromic oligodontia. Thus, the present study was designed to verify this hypothesis in a consecutive cohort of patients. METHODS: All patients with nonsyndromic oligodontia who had been treated at the study center (Department of Orthodontics, University of Giessen, Germany) over the period 1986-2013 were contacted. Candidates were included only if at least one more family member had hypo- or oligodontia (i...
February 15, 2017: Journal of Orofacial Orthopedics, Fortschritte der Kieferorthopädie
https://www.readbyqxmd.com/read/28188449/xylitol-production-by-genetically-modified-industrial-strain-of-saccharomyces-cerevisiae-using-glycerol-as-co-substrate
#4
Anushree B Kogje, Anand Ghosalkar
Xylitol is commercially used in chewing gum and dental care products as a low calorie sweetener having medicinal properties. Industrial yeast strain of S. cerevisiae was genetically modified to overexpress an endogenous aldose reductase gene GRE3 and a xylose transporter gene SUT1 for the production of xylitol. The recombinant strain (XP-RTK) carried the expression cassettes of both the genes and the G418 resistance marker cassette KanMX integrated into the genome of S. cerevisiae. Short segments from the 5' and 3' delta regions of the Ty1 retrotransposons were used as homology regions for integration of the cassettes...
February 10, 2017: Journal of Industrial Microbiology & Biotechnology
https://www.readbyqxmd.com/read/28184053/gastrointestinal-diseases-and-their-oro-dental-manifestations-part-4-peutz-jeghers-syndrome
#5
S E Korsse, M E van Leerdam, E Dekker
Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant inherited disorder, caused by germline mutations in the LKB1 tumour suppressor gene. It is clinically characterised by distinct perioral mucocutaneous pigmentations, gastrointestinal polyposis and an increased cancer risk in adult life. Hamartomatous polyps can develop already in the first decade of life and may cause various complications, including abdominal pain, bleeding, anaemia, and acute intestinal obstruction. Furthermore, patients have an increased risk for developing cancer, both in the gastrointestinal tract as in other organs...
February 10, 2017: British Dental Journal
https://www.readbyqxmd.com/read/28182053/correlation-between-dental-caries-experience-and-mutans-streptococci-counts-by-microbial-and-molecular-polymerase-chain-reaction-assay-using-saliva-as-microbial-risk-indicator
#6
S G Damle, Ashish Loomba, Abhishek Dhindsa, Ashu Loomba, Vikas Beniwal
BACKGROUND: The aim of this study was to assess the relationships of quantitative salivary levels of mutans streptococci (MS) in children, aged 3-6 years and 12-15 years, exhibiting variable patterns of caries activity, and to compare the association of MS in saliva using microbial and molecular (polymerase chain reaction [PCR]) assay. MATERIALS AND METHODS: In this cross-sectional observational study, eighty children were included, forty children each in Group I (3-6 years) and Group II (12-15 years)...
November 2016: Dental Research Journal
https://www.readbyqxmd.com/read/28177051/dental-caries-at-lapa-do-santo-central-eastern-brazil-an-early-holocene-archaeological-site
#7
Pedro DA-Gloria, Rodrigo E Oliveira, Walter A Neves
The origin and dispersion of the first Americans have been extensively investigated from morphological and genetic perspectives, but few studies have focused on their health and lifestyle. The archaeological site of Lapa do Santo, central-eastern Brazil, has exceptionally preserved Early Holocene human skeletons, providing 19 individuals with 327 permanent and 122 deciduous teeth dated to 9,250 to 7,500 years BP. In this study, we test whether the inhabitants of Lapa do Santo had high prevalence of dental caries as previous studies of Lagoa Santa collection have indicated, using individual and tooth as units of analyses...
February 6, 2017: Anais da Academia Brasileira de Ciências
https://www.readbyqxmd.com/read/28167518/pleiotropic-regulation-of-virulence-genes-in-streptococcus-mutans-by-a-conserved-small-protein-sprv
#8
Manoharan Shankar, Mohammad S Hossain, Indranil Biswas
: Streptococcus mutans, an oral pathogen associated with dental caries, colonizes tooth surfaces as polymicrobial biofilms, known as dental plaque. S. mutans expresses several virulence factors that allow the organism to tolerate environmental fluctuations and to compete with other microorganisms. We recently identified that a small hypothetical protein (90 amino acids) was essential for normal growth of the bacterium. Inactivation of the gene SMU.2137 encoding this protein caused a significant growth defect and loss of various virulence-associated functions...
February 6, 2017: Journal of Bacteriology
https://www.readbyqxmd.com/read/28159719/improvement-of-osteogenesis-in-dental-pulp-pluripotent-like-stem-cells-by-oligopeptide-modified-poly-%C3%A3-amino-ester-s
#9
Raquel Núñez-Toldrà, Pere Dosta, Sheyla Montori, Víctor Ramos, Maher Atari, Salvador Borrós
: Controlling pluripotent stem cell differentiation via genetic manipulation is a promising technique in regenerative medicine. However, the lack of safe and efficient delivery vehicles limits this application. Recently, a new family of poly (β-amino ester)s (pBAEs) with oligopeptide-modified termini showing high transfection efficiency of both siRNA and DNA plasmid has been developed. In this study, oligopeptide-modified pBAEs were used to simultaneously deliver anti-OCT3/4 siRNA, anti-NANOG siRNA, and RUNX2 plasmid to cells from the dental pulp with pluripotent-like characteristics (DPPSC) in order to promote their osteogenic differentiation...
January 31, 2017: Acta Biomaterialia
https://www.readbyqxmd.com/read/28151902/clinical-pathological-and-genetic-evaluations-of-chinese-patient-with-otodental-syndrome-and-multiple-complex-odontoma-case-report
#10
Anqi Liu, Meiling Wu, Xiaohe Guo, Hao Guo, Zhifei Zhou, Kewen Wei, Kun Xuan
Otodental syndrome is a rare autosomal-dominant disease characterized by globodontia, associated with sensorineural, high-frequency hearing loss. Here, we describe the clinical, pathological, and genetic evaluations of a 9-year-old girl with otodental syndrome and multiple complex odontoma.The patient presented with a draining sinus tract in her left cheek, globodontia, and hearing loss. The odontomas which caused the cutaneous sinus tracts were extracted because of the odontogenic infection. The extracted odontoma and primary tooth was studied by micro-CT and further observed histopathologically...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28151491/clinical-and-molecular-consequences-of-disease-associated-de-novo-mutations-in-satb2
#11
Hemant Bengani, Mark Handley, Mohsan Alvi, Rita Ibitoye, Melissa Lees, Sally Ann Lynch, Wayne Lam, Madeleine Fannemel, Ann Nordgren, H Malmgren, M Kvarnung, Sarju Mehta, Shane McKee, Margo Whiteford, Fiona Stewart, Fiona Connell, Jill Clayton-Smith, Sahar Mansour, Shehla Mohammed, Alan Fryer, Jenny Morton, Detelina Grozeva, Tara Asam, David Moore, Alejandro Sifrim, Jeremy McRae, Matthew E Hurles, Helen V Firth, F Lucy Raymond, Usha Kini, Christoffer Nellåker, Ddd Study, David R FitzPatrick
PURPOSE: To characterize features associated with de novo mutations affecting SATB2 function in individuals ascertained on the basis of intellectual disability. METHODS: Twenty previously unreported individuals with 19 different SATB2 mutations (11 loss-of-function and 8 missense variants) were studied. Fibroblasts were used to measure mutant protein production. Subcellular localization and mobility of wild-type and mutant SATB2 were assessed using fluorescently tagged protein...
February 2, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28148925/a-novel-mutation-in-the-proteolytic-domain-of-lonp1-causes-atypical-codas-syndrome
#12
Takehiko Inui, Mai Anzai, Yusuke Takezawa, Wakaba Endo, Yosuke Kakisaka, Atsuo Kikuchi, Akira Onuma, Shigeo Kure, Ichizo Nishino, Chihiro Ohba, Hirotomo Saitsu, Naomichi Matsumoto, Kazuhiro Haginoya
Cerebral, ocular, dental, auricular, skeletal (CODAS) syndrome is a rare autosomal recessive multisystem disorder caused by mutations in LONP1. It is characterized by intellectual disability, cataracts, delayed tooth eruption, malformed auricles and skeletal abnormalities. We performed whole-exome sequencing on a 12-year-old Japanese male with severe intellectual disability, congenital bilateral cataracts, spasticity, hypotonia with motor regression and progressive cerebellar atrophy with hyperintensity of the cerebellar cortex on T2-weighted images...
February 2, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28147333/treatment-of-oral-hyperpigmentation-and-gummy-smile-using-lasers-and-role-of-plasma-as-a-novel-treatment-technique-in-dentistry-an-introductory-review
#13
Nayansi Jha, Jae Jun Ryu, Rizwan Wahab, Abdulaziz A Al-Khedhairy, Eun Ha Choi, Nagendra Kumar Kaushik
Gingival hyperpigmentation and the condition known as gummy smile are very common dental cosmetic problems. Gingival hyperpigmentation arises due to the excess presence of melanin in certain regions of the gums. In the case of gummy smile, more than the required amount of gingival tissue is exposed upon smiling. An aesthetically pleasing smile should expose only a negligible amount of gingival tissue. Gummy smile and gingival hyperpigmentation can have detrimental effects on the aesthetic quality of a smile, and thereby a wide variety of treatment options must be taken into consideration depending patient outcome objectives...
January 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28141493/functional-amyloids-in-streptococcus-mutans-their-use-as-targets-of-biofilm-inhibition-and-initial-characterization-of-smu_63c
#14
Richard N Besingi, Iwona B Wenderska, Dilani B Senadheera, Dennis G Cvitkovitch, Joanna R Long, Zezhang T Wen, L Jeannine Brady
Amyloids have been identified as functional components of the extracellular matrix of bacterial biofilms. Streptococcus mutans is an established etiologic agent of dental caries and biofilm dweller. In addition to the previously identified amyloidogenic adhesin P1 (aka AgI/II, PAc), we show that the naturally occurring Antigen A derivative of S. mutans wall-associated protein A (WapA), and the secreted protein SMU_63c, can also form amyloid fibrils. P1, WapA and SMU_63c were found to significantly influence biofilm development and architecture, and all three proteins were shown by immunogold electron microscopy to reside within fibrillar extracellular matrix of the biofilms...
January 28, 2017: Microbiology
https://www.readbyqxmd.com/read/28139488/genetic-specificity-to-6-n-propylthiouracil-and-its-association-to-dental-caries-a-comparative-study
#15
Vidya B Vandal, Hina Noorani, P K Shivaprakash, Basavaraj Walikar
INTRODUCTION: Dental caries is one of the most prevalent infectious diseases to affl ict humanity. Although caries has multifactorial etiology, inherited genetic behavior and taste threshold may play an important role on caries. MATERIAL AND METHOD: Thirty mothers and thirty children in the age group of 6-14 years of both sexes who have stable mental condition and ASA physical status were selected for the study & 6-n-propylthiouracil testing is done. RESULTS: It is observed that nontaster siblings have higher caries prevalence than medium tasters and supertasters...
January 2017: Journal of the Indian Society of Pedodontics and Preventive Dentistry
https://www.readbyqxmd.com/read/28139483/patterns-of-incisor-premolar-agenesis-combinations-a-retrospective-study
#16
Levent Demiriz, Ebru Hazar Bodrumlu, Furuzan Kokturk
BACKGROUND: Tooth agenesis is the most common dental anomaly which causes serious problems in humans. Many theories were asserted to explain the main etiologic factor of this anomaly, and genetic factors were considered as primary reasons. AIMS: The aim of the present study was to evaluate the relationship between incisor and premolar tooth agenesis and to reveal a considerable data about combinations of incisor-premolar agenesis and their frequency. SETTINGS AND DESIGN: According to inclusion and exclusion criterion, archived panoramic radiographs of nonsyndromic 6535 patients (4077 females and 2058 males) ranging in age from 7 to 18 years old were retrospectively examined to find the presence of tooth agenesis...
January 2017: Journal of the Indian Society of Pedodontics and Preventive Dentistry
https://www.readbyqxmd.com/read/28138106/teratogenicity-of-antiepileptic-drugs
#17
Betül Tekin Güveli, Rasim Özgür Rosti, Alper Güzeltaş, Elif Bahar Tuna, Dilek Ataklı, Serra Sencer, Ensar Yekeler, Hülya Kayserili, Ahmet Dirican, Nerses Bebek, Betül Baykan, Ayşen Gökyiğit, Candan Gürses
Objective: Antiepileptic drugs (AED) have chronic teratogenic effects, the most common of which are congenital heart disease, cleft lip/palate, urogenital and neural tube defects. The aim of our study is to examine teratogenic effects of AED and the correlation between these malformations and AED in single or multiple pregnancies. Methods: This is a retrospective study of malformations in children born to mothers currently followed up by our outpatient clinics who used or discontinued AED during their pregnancy...
February 28, 2017: Clinical Psychopharmacology and Neuroscience: the Official Scientific Journal of the Korean College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28131910/polymorphisms-in-genes-involved-in-enamel-development-are-associated-with-dental-fluorosis
#18
Erika Calvano Küchler, Patricia Nivoloni Tannure, Daniela Silva Barroso de Oliveira, Senda Charone, Paulo Nelson-Filho, Raquel Assed Bezerra da Silva, Marcelo de Castro Costa, Leonardo Santos Antunes, Mônica Diuana Calasans Maia, Lívia Azeredo Alves Antunes
OBJECTIVE: To evaluate the association between polymorphisms in DLX1, DLX2, MMP13, TIMP1 and TIMP2 genes with dental fluorosis (DF) phenotype. DESIGN: Four hundred and eighty one subjects (108 with DF and 373 DF free) from 6 to 18 years of age were recruited. This population lived in Rio de Janeiro, a city with fluoridation of public water supplies. DF was assessed using the Deańs index modified. Only erupted permanent teeth were assessed. Genetic polymorphisms in DLX1, DLX2, MMP13, TIMP1 and TIMP2 were analyzed by real-time PCR from genomic DNA...
January 18, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/28126998/gastrointestinal-diseases-and-their-oro-dental-manifestations-part-3-coeliac-disease
#19
T van Gils, H S Brand, N K H de Boer, C J J Mulder, G Bouma
Coeliac disease is a chronic autoimmune-mediated enteropathy, caused by exposure to dietary gluten in genetically predisposed individuals that affects approximately 0.5-1% of the western population. Despite increased awareness of the disease, the majority of patients still remain undiagnosed. Disease frequently manifests in early childhood, but a significant proportion of patients are nowadays diagnosed above the age of 50. Timely diagnosis is important in order to start a gluten-free diet and prevent complications...
January 27, 2017: British Dental Journal
https://www.readbyqxmd.com/read/28124261/genetic-disorders-of-dental-development-tales-from-the-bony-crypt
#20
REVIEW
Sylvia A Frazier-Bowers, Siddharth R Vora
PURPOSE OF REVIEW: The ebb and flow of genetic influence relative to the understanding of craniofacial and dental disorders has evolved into a tacit acceptance of the current genetic paradigm. This review explores the science behind craniofacial and dental disorders through the lens of recent past and current findings and using tooth agenesis as a model of advances in craniofacial genetics. RECENT FINDINGS: Contemporary studies of craniofacial biology takes advantage of the technological resources stemming from the genomic and post-genomic eras...
January 26, 2017: Current Osteoporosis Reports
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