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https://www.readbyqxmd.com/read/28738062/analysis-of-novel-runx2-mutations-in-chinese-patients-with-cleidocranial-dysplasia
#1
Xianli Zhang, Yang Liu, Xiaozhe Wang, Xiangyu Sun, Chenying Zhang, Shuguo Zheng
Cleidocranial dysplasia (CCD) is an autosomal dominant inheritable skeletal disorder characterized by cranial dysplasia, clavicle hypoplasia and dental abnormalities. This disease is mainly caused by heterozygous mutations in RUNX2, a gene that encodes an osteoblast-specific transcription factor. In the present study, mutational analyses of RUNX2 gene were performed on four unrelated Chinese patients with CCD. Four different RUNX2 mutations were detected in these patients, including one nonsense mutation (c...
2017: PloS One
https://www.readbyqxmd.com/read/28729668/novel-fam83h-mutations-in-patients-with-amelogenesis-imperfecta
#2
Wang Xin, Wang Wenjun, Qin Man, Zhao Yuming
Amelogenesis imperfecta (AI), characterized by a deficiency in the quantity and/or quality of dental enamel, is genetically heterogeneous and phenotypically variable. The most severe type, hypocalcified AI, is mostly caused by truncating mutations in the FAM83H gene. This study aimed to identify genetic mutations in four Chinese families with hypocalcified AI. We performed mutation analysis by sequencing the candidate FAM83H gene. Three novel mutations (c.931dupC, p.V311Rfs*13; c.1130_1131delinsAA, p.S377X; and c...
July 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28729051/inhibiting-effects-of-fructanase-on-competence-stimulating-peptide-dependent-quorum-sensing-system-in-streptococcus-mutans
#3
Yusuke Suzuki, Ryo Nagasawa, Hidenobu Senpuku
Streptococcus mutans produces glucosyltransferases encoded by the gtfB and gtfC genes, which synthesize insoluble glucan, and both insoluble and soluble glucans by conversion of sucrose, and are known as principal agents to provide strong biofilm formation and demineralization on tooth surfaces. S. mutans possess a Com-dependent quorum sensing (QS) system, which is important for survival in severe conditions. The QS system is stimulated by the interaction between ComD {Receptor to competence-stimulating peptide (CSP)} encoded by the comD and CSP encoded by the comC, and importantly associated with bacteriocin production and genetic competence...
July 17, 2017: Journal of Infection and Chemotherapy: Official Journal of the Japan Society of Chemotherapy
https://www.readbyqxmd.com/read/28722276/identification-and-functional-analysis-of-an-adamtsl1-variant-associated-with-a-complex-phenotype-including-congenital-glaucoma-craniofacial-and-other-systemic-features-in-a-three-generation-human-pedigree
#4
Kathryn Hendee, Lauren Weiping Wang, Linda M Reis, Gregory M Rice, Suneel S Apte, Elena V Semina
Developmental glaucoma can occur as an isolated or syndromic condition and is genetically heterogeneous. We describe a three-generation family affected with developmental glaucoma, myopia, and/or retinal defects associated with variable craniofacial/dental, auditory, brain, renal, and limb anomalies. Whole exome sequencing identified a heterozygous c.124T> C, p.(Trp42Arg) allele in ADAMTSL1; co-segregation analysis confirmed the presence of this allele in four affected family members. The mutation affects a highly conserved residue and is strongly predicted to have a deleterious effect on protein function...
July 19, 2017: Human Mutation
https://www.readbyqxmd.com/read/28710305/autism-spectrum-disorder-in-say-barber-biesecker-young-simpson-syndrome
#5
Jessica Merritt, Joseph C Hart, Tracy L LeGrow
Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS), also known as Ohdo syndrome SBBYS type, is a rare genetic disorder characterised by dysmorphic facial features and severe intellectual disability, as well as cardiac, dental and hearing abnormalities. There has been little psychiatric or psychological description of children with SBBYSS, although previous reports noted repetitive self-injurious behaviours, sensitivity to light and noise and severe deficits in communication. In this report, a 4-year-old male with SBBYSS is described with a focus on psychiatric and psychological assessment, including formal testing for autism spectrum disorder (ASD)...
July 14, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28705318/progressive-atrial-conduction-defects-associated-with-bone-malformation-caused-by-a-connexin-45-mutation
#6
Akiko Seki, Taisuke Ishikawa, Xavier Daumy, Hiroyuki Mishima, Julien Barc, Ryo Sasaki, Kiyomasa Nishii, Kayoko Saito, Mari Urano, Seiko Ohno, Saki Otsuki, Hiroki Kimoto, Alban-Elouen Baruteau, Aurelie Thollet, Swanny Fouchard, Stéphanie Bonnaud, Philippe Parent, Yosaburo Shibata, Jean-Philippe Perrin, Hervé Le Marec, Nobuhisa Hagiwara, Sandra Mercier, Minoru Horie, Vincent Probst, Koh-Ichiro Yoshiura, Richard Redon, Jean-Jacques Schott, Naomasa Makita
BACKGROUND: Inherited cardiac conduction disease is a rare bradyarrhythmia associated with mutations in various genes that affect action potential propagation. It is often characterized by isolated conduction disturbance of the His-Purkinje system, but it is rarely described as a syndromic form. OBJECTIVES: The authors sought to identify the genetic defect in families with a novel bradyarrhythmia syndrome associated with bone malformation. METHODS: The authors genetically screened 15 European cases with genotype-negative de novo atrioventricular (AV) block and their parents by trio whole-exome sequencing, plus 31 Japanese cases with genotype-negative familial AV block or sick sinus syndrome by targeted exon sequencing of 457 susceptibility genes...
July 18, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28702065/achondroplasia-with-multiple-supplemental-supernumerary-teeth-and-multiple-talon-cusps-a-rare-case-report
#7
Jayam Raviraj, Venkata Suman, Dirasantchu Suresh, K Kartik
Achondroplasia is the most common cause of dwarfism, which is inherited as an autosomal dominant disorder, caused by genetic mutation in fibroblast growth factor 3, leading to defective maturation of chondrocytes. It is known to be associated with various oral and dental manifestations such as delayed dental development, midfacial hypoplasia and constricted maxilla with a relatively large mandible, resulting in skeletal/dental Class III malocclusion, posterior crossbite, anterior reverse jet and anterior overbite...
May 2017: Dental Research Journal
https://www.readbyqxmd.com/read/28701861/a-preliminary-genome-wide-association-study-of-pain-related-fear-implications-for-orofacial-pain
#8
Cameron L Randall, Casey D Wright, Jonathan M Chernus, Daniel W McNeil, Eleanor Feingold, Richard J Crout, Katherine Neiswanger, Robert J Weyant, John R Shaffer, Mary L Marazita
BACKGROUND: Acute and chronic orofacial pain can significantly impact overall health and functioning. Associations between fear of pain and the experience of orofacial pain are well-documented, and environmental, behavioral, and cognitive components of fear of pain have been elucidated. Little is known, however, regarding the specific genes contributing to fear of pain. METHODS: A genome-wide association study (GWAS; N = 990) was performed to identify plausible genes that may predispose individuals to various levels of fear of pain...
2017: Pain Research & Management: the Journal of the Canadian Pain Society
https://www.readbyqxmd.com/read/28697212/maxillary-implant-prosthodontic-treatment-using-digital-laboratory-protocol-for-a-patient-with-epidermolysis-bullosa-a-case-history-report
#9
Rubén Agustín-Panadero, Blanca Serra-Pastor, David Peñarrocha-Oltra, Miguel Peñarrocha-Diago
Epidermolysis bullosa belongs to a group of genetic diseases that present with skin disorders and is characterized by generalized blister formation in response to mechanical trauma. This article reports on the management of a recessive dystrophic epidermolytic patient with four remaining periodontally compromised maxillary teeth. Treatment involved placement of four maxillary implants and use of computer-aided design/computer-assisted manufacture techniques to fabricate a fixed full-arch implant-supported prosthesis...
July 2017: International Journal of Prosthodontics
https://www.readbyqxmd.com/read/28691474/cone-morse-implant-connection-system-significantly-reduces-bacterial-leakage-between-implant-and-abutment-an-in-vitro-study
#10
A Baj, A Bolzoni, A Russillo, D Lauritano, A Palmieri, F Cura, F J Silvestre, A B Giannì
Osseointegrated implants are very popular dental treatments today in the world. In osseointegrated implants, the occlusal forces are transmitted from prosthesis through an abutment to a dental implant. The abutment is connected to the implant by mean of a screw. A screw is the most used mean for connecting an implant to an abutment. Frequently the screws break and are lost. There is an alternative to screw retained abutment systems: the cone-morse connection (CMC). The CMC, thanks to the absence of the abutment screw, guarantees no micro-gaps, no micro-movements, and a reduction of bacterial leakage between implant and abutment...
April 2017: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/28691456/genetic-correlation-between-rheumatoid-arthritis-and-periodontal-disease-the-role-of-sex-and-il-10
#11
L Azzi, S Rania, F Spadari, R Vinci, M Manfredini, F Croveri, A Boggio, L Tettamanti, A Tagliabue, J Silvestre-Rangil, C Bellintani
The chronic stimulation of the immune system due to the presence of bacterial antigens within periodontal tissues has been associated with several autoimmune diseases, like diabetes mellitus, infective endocarditis or cardiovascular atherosclerosis. The current study aims at evaluating the correlation between Rheumatoid Arthritis (RA) and Periodontal Disease (PD) with special attention to genetic polymorphisms in cytokine expression. A total number of 34 patients affected by RA were recruited. Each of them underwent haematochemical analysis and data were collected for Rheumatoid Factor (RF), Anti-Citrullinated Protein’s Antibody (CCP) and HLA-BDR1...
April 2017: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/28687188/-oral-and-dental-expression-of-thyroid-diseases
#12
Jean-Louis Wémeau, Christine Do Cao, Miriam Ladsous
Oral disorders were observed in children with congenital hypothyroidism, lately apparent because of difficulties of feeding, swallowing disorders, and macroglossia. Macroglossia was also a component of the severe acquired myxedema, particularly observed in hypothyroidism related to autoimmune atrophic thyroiditis beyond menopause. Lingual ectopy in children and adults could determine respiratory gene or swallowing difficulties, and were detectable by visual examination and the endobuccal touch. Expression of these events was completely minimized since the neonatal screening of congenital hypothyroidism, also by the common practice in adults of serum TSH determinations...
July 4, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28681357/a-cross-sectional-analysis-of-the-prevalence-of-tooth-agenesis-and-structural-dental-anomalies-in-association-with-cleft-type-in-non-syndromic-oral-cleft-patients
#13
Dimitrios Konstantonis, Alexandros Alexandropoulos, Nikoleta Konstantoni, Maria Nassika
BACKGROUND: The aim of this study was to investigate the prevalence of tooth agenesis, microdontia, and tooth malformation among non-syndromic oral cleft patients and their potential association with cleft type and gender. METHODS: Intraoral records and radiographs of 154 patients (97 males and 57 females) were examined. The variables assessed were tooth agenesis, microdontia, dental malformations, and cleft types. The statistics included chi-square and Fisher's exact tests as well as logistic regression to assess any mutual effects of gender and cleft type on the dental variables...
December 2017: Progress in Orthodontics
https://www.readbyqxmd.com/read/28668961/single-nucleotide-polymorphism-in-the-aetiology-of-caries-systematic-literature-review
#14
Paula Piekoszewska-Ziętek, Anna Turska-Szybka, Dorota Olczak-Kowalczyk
Recent progress in the field of molecular biology and techniques of DNA sequence analysis allowed determining the meaning of hereditary factors of many common human diseases. Studies of genetic mechanisms in the aetiology of caries encompass, primarily, 4 main groups of genes responsible for (1) the development of enamel, (2) formation and composition of saliva, (3) immunological responses, and (4) carbohydrate metabolism. The aim of this study was to present current knowledge about the influence of single nucleotide polymorphism (SNP) genetic variants on the occurrence of dental caries...
July 1, 2017: Caries Research
https://www.readbyqxmd.com/read/28662344/oral-and-craniofacial-anomalies-of-bardet-biedl-syndrome-dental-management-in-the-context-of-a-rare-disease
#15
A Panny, I Glurich, R M Haws, A Acharya
Standardized guidelines for the oral health management of patients with rare diseases exhibiting morphologic anomalies are currently lacking. This review considers Bardet-Biedl syndrome (BBS), a monogenic autosomal recessive nonmotile ciliopathy, as an archetypal condition. Dental anomalies are present in a majority of individuals affected by BBS due to abnormal embryonic orofacial and tooth development. Genetically encoded intrinsic oral structural anomalies and heterogeneous BBS clinical phenotypes and consequent oral comorbidities confound oral health management...
June 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28657701/clinical-effects-of-stabilized-stannous-fluoride-dentifrice-in-reducing-plaque-microbial-virulence-i-microbiological-and-receptor-cell-findings
#16
Malgorzata Klukowska, John Christian Haught, Sancai Xie, Ben Circello, Cheryl S Tansky, Deepa Khambe, Tom Huggins, Donald J White
OBJECTIVES: Lipopolysaccharides (LPSs) and lipoteichoic acids (LTAs), or bacterial endotoxins, bind with Toll-like receptors (TLRs) that are expressed on host cells of the periodontium, thereby contributing to the periodontal pathogenicity of oral bacteria. Stannous fluoride (SnF2), an antibacterial fluoride that treats and controls gingivitis, has been shown to react with lipophilic domains/anionic charges in LPS and LTA. The effects of bacterial species and dental plaque on toll receptors can be studied using genetically engineered cell lines containing linked toll receptors on their surfaces...
June 2017: Journal of Clinical Dentistry
https://www.readbyqxmd.com/read/28655174/diagnosis-and-management-of-osteopetrosis-consensus-guidelines-from-the-osteopetrosis-working-group
#17
Calvin C Wu, Michael J Econs, Linda A DiMeglio, Karl L Insogna, Michael A Levine, Paul J Orchard, Weston P Miller, Anna Petryk, Eric T Rush, Dolores M Shoback, Leanne M Ward, Lynda E Polgreen
Background: Osteopetrosis encompasses a group of rare metabolic bone diseases characterized by impaired osteoclast activity or development, resulting in high bone mineral density. Existing guidelines focus on treatment of the severe infantile forms with hematopoietic cell transplantation (HCT), but do not address the management of patients with less severe forms for whom HCT is not the standard of care. Therefore, our objective was to develop expert consensus guidelines that would address the management of these patients...
June 26, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28646693/antibacterial-effect-of-genetically-engineered-bacteriophage-%C3%AF-ef11-%C3%AF-fl1c-%C3%AE-36-p-nisa-on-dentin-infected-with-antibiotic-resistant-enterococcus-faecalis
#18
Justine Monnerat Tinoco, Nadia Liss, Hongming Zhang, Roni Nissan, Wanda Gordon, Eduardo Tinoco, Luciana Sassone, Roy Stevens
OBJECTIVE: Enterococcus faecalis is a gram-positive facultative anaerobic bacterium, which is present in 30-89% of teeth with postendodontic treatment failures. E. faecalis is capable of penetrating dentinal tubules and surviving as a monoculture after conventional endodontic therapy, indicating that it is resistant to commonly used endodontic disinfection protocols. Different E. faecalis strains have shown resistance to several antibiotics, and have been associated with both dental pathology and systemic infections...
June 12, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/28637664/expanded-repertoire-of-rasgrp2-variants-responsible-for-platelet-dysfunction-and-severe-bleeding
#19
Sarah K Westbury, Matthias Canault, Daniel Greene, Emilse Bermejo, Katharine Hanlon, Michele P Lambert, Carolyn M Millar, Paquita Nurden, Samya G Obaji, Shoshana Revel-Vilk, Chris Van Geet, Kate Downes, Sofia Papadia, Salih Tuna, Christopher Watt, Nihr BioResource-Rare Diseases Consortium, Kathleen Freson, Michael A Laffan, Willem H Ouwehand, Marie-Christine Alessi, Ernest Turro, Andrew D Mumford
Heritable platelet function disorders (PFDs) are genetically heterogeneous and poorly characterised. Pathogenic variants in RASGRP2, which encodes calcium and diacylglycerol-regulated guanine exchange factor I (CalDAG-GEFI), have been reported previously in three pedigrees with bleeding and reduced platelet aggregation responses. To better define the phenotype associated with pathogenic RASGRP2 variants, we compared high-throughput sequencing and phenotype data from 2,042 cases in pedigrees with unexplained bleeding or platelet disorders to data from 5,422 controls...
June 21, 2017: Blood
https://www.readbyqxmd.com/read/28626923/comparative-performance-of-deciduous-and-permanent-dental-morphology-in-detecting-biological-relatives
#20
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
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