Read by QxMD icon Read

Dental genetics

M Koruyucu, J Kang, Y J Kim, F Seymen, Y Kasimoglu, Z H Lee, T J Shin, H K Hyun, Y J Kim, S H Lee, J C C Hu, J P Simmer, J W Kim
Tooth enamel, the hardest tissue in the human body, is formed after a complex series of interactions between dental epithelial tissue and the underlying ectomesenchyme. Nonsyndromic amelogenesis imperfecta (AI) is a rare genetic disorder affecting tooth enamel without other nonoral symptoms. In this study, we identified 2 novel ENAM mutations in 2 families with hypoplastic AI by whole exome sequencing. Family 1 had a heterozygous splicing donor site mutation in intron 4, NM_031889; c.123+2T>G. Affected individuals had hypoplastic enamel with or without the characteristic horizontal hypoplastic grooves in some teeth...
March 1, 2018: Journal of Dental Research
Waleed K Mohammed, Natalio Krasnogor, Nicholas S Jakubovics
The ability of microorganisms to regulate gene expression is thought to be critical for survival and growth during the development of polymicrobial biofilms such as dental plaque. The commensal dental plaque colonizer, Streptococcus gordonii, responds to cell-cell contact (coaggregation) with Actinomyces oris by regulating > 20 genes, including those involved in arginine biosynthesis. We hypothesized that an S. gordonii extracellular protease is critical for sensing by providing amino acids that modulate gene expression...
March 14, 2018: FEMS Microbiology Ecology
Antony T Vincent, Steve J Charette, Jean Barbeau
The Gram-negative bacterium Pseudomonas aeruginosa is found in several habitats, both natural and human-made, and is particularly known for its recurrent presence as a pathogen in the lungs of patients suffering from cystic fibrosis, a genetic disease. Given its clinical importance, several major studies have investigated the genomic adaptation of P. aeruginosa in lungs and its transition as acute infections become chronic. However, our knowledge about the diversity and adaptation of the P. aeruginosa genome to non-clinical environments is still fragmentary, in part due to the lack of accurate reference genomes of strains from the numerous environments colonized by the bacterium...
March 16, 2018: Genome Génome / Conseil National de Recherches Canada
Matthias Bochtler, Danuta Mizgalska, Florian Veillard, Magdalena L Nowak, John Houston, Paul Veith, Eric C Reynolds, Jan Potempa
Bacteroidetes feature prominently in the human microbiome, as major colonizers of the gut and clinically relevant pathogens elsewhere. Here, we reveal a new Bacteroidetes specific feature in the otherwise widely conserved Sec/SPI (Sec translocase/signal peptidase I) pathway. In Bacteroidetes , but not the entire FCB group or related phyla, signal peptide cleavage exposes N-terminal glutamine residues in most SPI substrates. Reanalysis of published mass spectrometry data for five Bacteroidetes species shows that the newly exposed glutamines are cyclized to pyroglutamate (also termed 5-oxoproline) residues...
2018: Frontiers in Microbiology
Marcel Hanisch, Lale Hanisch, Johannes Kleinheinz, Susanne Jung
BACKGROUND: Primary failure of eruption (PFE) is a rare disease defined as incomplete tooth eruption despite the presence of a clear eruption pathway. Orthodontic extrusion is not feasible in this case because it results in ankylosis of teeth. To the best of our knowledge, besides the study of Ahmad et al. (Eur J Orthod 28:535-540, 2006), no study has systematically analysed the clinical features of and factors associated with PFE. Therefore, the aim of this study was to systematically evaluate the current literature (from 2006 to 2017) for new insights and developments on the aetiology, diagnosis, genetics, and treatment options of PFE...
March 15, 2018: Head & Face Medicine
Vo Truong Nhu Ngoc, Trinh Do Van Nga, Dinh-Toi Chu, Le Quynh Anh
Hemophilia-a bleeding disorder due to the lack of clotting factors-is mostly induced by genetic factors. Its most common type is hemophilia A. Hemorrhage in hemophilia A may occur in several different sites of the body, including those inside the oral cavity, such as mucous membrane and gum. However, only a few studies and case reports on dental issues of hemophilia A patients have been conducted. In clinical dentistry, treatment procedures are invasive, possibly leading to more severe bleeding, especially in hemophilia A cases...
March 14, 2018: Special Care in Dentistry
Caroline Bachmeier, Chirag Patel, Peter Kanowski, Kunwarjit Sangla
Primary hyperparathyroidism (PH) is a common endocrine abnormality and may occur as part of a genetic syndrome. Inactivating mutations of the tumour suppressor gene CDC73 have been identified as accounting for a large percentage of hyperparathyroidism-jaw tumour syndrome (HPT-JT) cases and to a lesser degree account for familial isolated hyperparathyroidism (FIHP) cases. Reports of CDC73 whole gene deletions are exceedingly rare. We report the case of a 39 year-old woman with PH secondary to a parathyroid adenoma associated with a large chromosomal deletion (2...
2018: Endocrinology, Diabetes & Metabolism Case Reports
Pei Lin Zhuang, Li Xia Yu, Juan Kun Liao, Yan Zhou, Huan Cai Lin
BACKGROUND: The VicRK two-component signalling system regulates virulence and cariogenicity in Streptococcus mutans (S. mutans). The purpose of this study was to explore the genetic polymorphisms of the vicR and vicK genes, which are associated with dental caries in children with S. mutans. METHODS: In this study, 121 (from each group) clinical S. mutans strains were isolated from caries-free children and children with high-severity caries to sequence the vicR and vicK genes...
March 12, 2018: BMC Oral Health
Alejandro Avilés-Reyes, Irlan Almeida Freires, Jessica K Kajfasz, Dicler Barbieri, James H Miller, José A Lemos, Jacqueline Abranches
We report the whole genome sequence (WGS) of the serotype e Cbm+ strain LAR01 of Streptococcus mutans, a dental pathogen frequently associated with extra-oral infections. The LAR01 genome is a single circular chromosome of 2.1 Mb with a GC content of 36.96%. The genome contains 15 PTS gene clusters, 7 cell wall-anchored (LPxTG) proteins, all genes required for the development of natural competence and genes coding for mutacins VI and K8. Interestingly, the cbm gene is genetically linked to a putative type VII secretion system that has been found in Mycobacteria and few other gram-positive bacteria...
March 9, 2018: Molecular Oral Microbiology
Maxime Cadieux-Dion, Nicole P Safina, Kendra Engleman, Carol Saunders, Elena Repnikova, Nikita Raje, Kristi Canty, Emily Farrow, Neil Miller, Lee Zellmer, Isabelle Thiffault
BACKGROUND: Ectodermal dysplasias (ED) are a group of diseases that affects the development or function of the teeth, hair, nails and exocrine and sebaceous glands. One type of ED, ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC or Hay-Wells syndrome), is an autosomal dominant disease characterized by the presence of skin erosions affecting the palms, soles and scalp. Other clinical manifestations include ankyloblepharon filiforme adnatum, cleft lip, cleft palate, craniofacial abnormalities and ectodermal defects such as sparse wiry hair, nail changes, dental changes, and subjective hypohydrosis...
March 9, 2018: BMC Medical Genetics
Jason Hyde, Sara Fowler, Melissa Drum, Al Reader, John Nusstein, Mike Beck
INTRODUCTION: Recent studies have investigated the relationship between pain perception and specific phenotypes such as red hair color and various eye colors. Further investigations into biomarkers as they relate to pain could be useful in understanding underlying genetic components involved in these pathways. Additionally, it would be clinically useful to determine if a patient would be more likely to experience pain during dental treatment based on eye color. The purpose of this study was to investigate a link between eye color and perceived injection pain in healthy, asymptomatic white women...
March 2, 2018: Journal of Endodontics
Kathryn E Hendee, Elena A Sorokina, Sanaa S Muheisen, Linda M Reis, Rebecca C Tyler, Vujica Markovic, Goran Cuturilo, Brian A Link, Elena V Semina
The PITX2 (paired-like homeodomain 2) gene encodes a bicoid-like homeodomain transcription factor linked with several human disorders. The main associated congenital phenotype is Axenfeld-Rieger syndrome, type 1 (ARS), an autosomal dominant condition characterized by variable defects in the anterior segment of the eye, an increased risk of glaucoma, craniofacial dysmorphism and dental and umbilical anomalies; in addition to this, one report implicated PITX2 in ring dermoid of the cornea and a few others described cardiac phenotypes...
March 1, 2018: Human Molecular Genetics
Mine Koruyucu, Yelda Kasimoğlu, Figen Seymen, Merve Bayram, Asli Patir, Nihan Ergöz, Elif B Tuna, Koray Gencay, Kathleen Deeley, Diego Bussaneli, Adriana Modesto, Alexandre R Vieira
OBJECTIVE: The goal of the present work was to use dental conditions that have been independently associated with cleft lip and palate (CL/P) as a tool to identify a broader collection of individuals to be used for gene identification that lead to clefts. STUDY DESIGN: We studied 1573 DNA samples combining individuals that were born with CL/P or had tooth agenesis, supernumerary teeth, molar incisor hypomineralization, or dental caries with the goal to identify genetic associations...
January 31, 2018: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
Zuzanna Ślebioda, Ewa Krawiecka, Elżbieta Szponar, Barbara Dorocka-Bobkowska
BACKGROUND: RAS is a common ulcerative disorder of the oral mucosa, where the immune impairment may develop in genetically predisposed subjects exposed to certain environmental factors. The aim of the study was to investigate the frequency of anaemia, iron and vitamin B12 deficiency in RAS and to explore its impact on the clinical presentation of RAS. METHODS: A total of 141 adults including: 71 subjects with RAS and 70 controls were enrolled in the study. A detailed dental and haematological assessment, including full blood count, serum iron and vitamin B12 evaluation was performed in all study participants...
March 2, 2018: Journal of Oral Pathology & Medicine
Madhuram Krishnamurthy, V Naveen Kumar, Ashok Leburu, Nadeem Jeddy
Fusion and gemination are developmental anomalies which are quite similar to each other but can be distinguished from each other if properly assessed. Fusion and gemination have been described as a result of developmental anomalies of dental tissues. The exact etiology is still unknown, but a genetic predisposition is suggested. This article highlights the importance of clinical and radiographic correlation in arriving at a definitive diagnosis.
January 2018: Journal of Oral and Maxillofacial Pathology: JOMFP
S Jai Karthik, Shajith Anoop, R Suresh Kumar, M V Usha Rani
Asian Indians develop type 2 diabetes mellitus (T2DM) much earlier as compared to White Caucasians, due to unique phenotypic and genetic architecture. Periodontitis in T2DM patients is often a neglected clinical feature. This study was conducted to derive predictor variables for gingival index in middle-aged Asian Indians with T2DM in a semiurban population of Dravidian ethnicity from Tamil Nadu, India. T2DM patients ( n = 232, mean age: 50.6 ± 10.4 years) with periodontitis ( n = 123, mean age: 54.3 ± 2...
2018: TheScientificWorldJournal
Beatriz Villafuerte, Daniel Natera-de Benito, Aidy González, María A Mori, María Palomares, Julián Nevado, Sixto García-Miñaur, Pablo Lapunzina, Luis I González-Granado, Luis M Allende, José C Moreno
Genetic defects of NKX2-1 are classically associated with hypothyroidism, benign chorea and neonatal respiratory distress. The purpose of this study was to identify the genetic pathogenesis of the "NKX2-1 triad" in a 10 year-old female presenting additional features barely described in the disorder. In the neonatal period, she presented with generalized hypotonia and respiratory distress, with later episodes of frequent wheezing. At 3 month-age developmental dysplasia of the hip was diagnosed and at 10 months, primary hypothyroidism was detected and treated...
February 22, 2018: European Journal of Medical Genetics
André Wannemüller, Dirk Moser, Robert Kumsta, Hans-Peter Jöhren, Jürgen Margraf
BACKGROUND: Methodological problems of existing research, such as the application of unstandardized treatments in heterogeneous samples, has hampered clear conclusions about the extent and direction to which allelic variation of the serotonin transporter gene-linked polymorphic region (5- HTTLPR) is associated with a differential response to psychological treatment. The present study aimed to investigate the effects of the 5-HTTLPR genotype on treatment outcome under highly standardized environmental conditions...
February 21, 2018: Psychotherapy and Psychosomatics
G Minervini, A Romano, M Petruzzi, C Maio, R Serpico, A Lucchese, V Candotto, D Di Stasio
Orofaciodigital syndromes (OFD) are rare genetical disorders characterized by malformations of the mouth (oris), face (facies), hands and feet (digitus = finger, toe). It is still impossible to fully understand the whole spectrum of all dysfunctions due to OFD, since the expressions of the syndrome vary in each patient. There are various alterations, thoroughly described in literature that can affect the oral cavity such as dental caries, abnormal teeth, enamel hypoplasia, supernumerary teeth and dental agenesis...
January 2018: Journal of Biological Regulators and Homeostatic Agents
Nuriye Dinckan, Renqian Du, Zeynep C Akdemir, Yavuz Bayram, Shalini N Jhangiani, Harsha Doddapaneni, Jianhong Hu, Donna M Muzny, Yeliz Guven, Oya Aktoren, Hulya Kayserili, Eric Boerwinkle, Richard A Gibbs, Jennifer E Posey, James R Lupski, Zehra O Uyguner, Ariadne Letra
Tooth development is regulated by multiple genetic pathways, which ultimately drive the complex interactions between the oral epithelium and mesenchyme. Disruptions at any time point during this process may lead to failure of tooth development, also known as tooth agenesis (TA). TA is a common craniofacial abnormality in humans and represents the failure to develop one or more permanent teeth. Many genes and potentially subtle variants in these genes contribute to the TA phenotype. We report the clinical and genetic impact of a rare homozygous ANTXR1 variant (c...
February 13, 2018: American Journal of Medical Genetics. Part A
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"