Article
Multidisciplinary Sciences
Kuan-Yu Chu, Yin-Lin Wang, Jung-Tsu Chen, Chia-Hui Lin, Chung-Chen Jane Yao, Yi-Jane Chen, Huan-Wen Chen, James P. Simmer, Jan C. -C. Hu, Shih-Kai Wang
Summary: Familial tooth agenesis (FTA) is a common craniofacial anomaly in humans. Loss-of-function mutations in PAX9 and WNT10A cause FTA, and the presence of both mutations leads to more severe phenotypes due to mutational synergism. This study identified new disease-causing mutations in PAX9 and expanded the knowledge of phenotypic and genotypic spectrums of PAX9-associated disorders, providing insights into the molecular mechanism of FTA variable expressivity.
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
(2023)
Article
Dentistry, Oral Surgery & Medicine
Y. Zeng, E. Baugh, S. Akyalcin, A. Letra
Summary: Mutations in WNT10A gene have been frequently associated with tooth agenesis, with most of the variants related to this condition affecting protein function and leading to decreased WNT signaling.
JOURNAL OF DENTAL RESEARCH
(2021)
Article
Medicine, General & Internal
Barbara Biedziak, Ewa Firlej, Justyna Dabrowska, Agnieszka Bogdanowicz, Malgorzata Zadurska, Adrianna Mostowska
Summary: This study identified pathogenic and likely pathogenic variants associated with non-syndromic tooth agenesis (ns-TA) through screening coding sequences of candidate genes. Known candidate genes and newly discovered gene variants may play important roles in the development of ns-TA. Further research is needed to confirm the role of these genes and understand the etiology of ns-TA.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Genetics & Heredity
Daniel Tabet, Victoria Parikh, Prashant Mali, Frederick P. Roth, Melina Claussnitzer
Summary: Scalable sequence-function studies have enabled systematic analysis of genetic variants, improving clinical interpretation and providing insights into the effects of genetic variants.
ANNUAL REVIEW OF GENETICS
(2022)
Article
Genetics & Heredity
Bernadette Kerekes-Mathe, Krisztina Martha, Claudia Banescu, Matthew Brook O'Donnell, Alan H. Brook
Summary: This study investigated a specific variant of MSX1 and found that individuals carrying the T allele had a 6.9-fold increased risk of upper lateral incisor agenesis. Significant differences were observed in morphometric measurements between hypodontia patients and controls, as well as between unilateral and bilateral agenesis cases. The study also revealed compensatory interactions between the maxillary incisors, indicating the influence of epigenetic and environmental factors on this genetic variant.
Article
Dentistry, Oral Surgery & Medicine
Jamila N. Ross, Lisanne C. Ruigrok, Willem M. M. Fennis, Marco S. Cune, Antoine J. W. P. Rosenberg, Annick B. van Nunen, Marijn A. Creton, Hans-Kristian Ploos van Amstel, Marie-Jose J. H. van den Boogaard
Summary: Patients with isolated oligodontia and a deficiency in a Wnt pathway-related gene have a higher prevalence and severity of gastrointestinal symptoms compared to controls without tooth agenesis.
Article
Dentistry, Oral Surgery & Medicine
Charinya Kanchanasevee, Soranun Chantarangsu, Pisha Pittayapat, Thantrira Porntaveetus
Summary: This study investigates the phenotypes and sex-associated patterns of nonsyndromic tooth agenesis in Thai dental patients. The results show that single tooth agenesis is more prevalent in males, while two or more teeth agenesis is more prevalent in females. There are different patterns of lateral incisor agenesis between males and females.
Article
Biology
Elias S. Oeschger, Georgios Kanavakis, Alina Cocos, Demetrios J. Halazonetis, Nikolaos Gkantidis
Summary: The reduction in teeth number in modern humans is associated with changes in facial morphology, indicating an evolutionary trend in overall craniofacial development.
Article
Agriculture, Dairy & Animal Science
Donal O'Toole, Irene M. Haefliger, Fabienne Leuthard, Brant Schumaker, Lynn Steadman, Brian Murphy, Cord Droegemueller, Tosso Leeb
Summary: The article describes a case of ECTD1-like syndrome in five Red Angus-Simmental bull calves born over a six-year period in a herd in the Western United States. The calves exhibited severe hypotrichosis and oligodontia. Skin histopathology revealed small-caliber hair follicles with a slightly higher density in the affected animals. Whole-genome sequencing identified a deletion involving part of the EDA gene, which is likely the cause of this genetic skin disorder.
Article
Dentistry, Oral Surgery & Medicine
Peter Bielik, Ondrej Bonczek, Premysl Krejci, Tomas Zeman, Lydie Izakovicova-Holla, Jana Soukalova, Jiri Vanek, Borivoj Vojtesek, Jan Lochman, Vladimir J. Balcar, Omar Sery
Summary: This study analyzed WNT10A variants in young subjects with various forms of tooth agenesis and self-reported family history of cancer. The study found that WNT10A variants significantly affect dental phenotype but no relationship between the presence of WNT10A variants and a risk of cancer was found.
CLINICAL ORAL INVESTIGATIONS
(2022)
Article
Multidisciplinary Sciences
Claire A. de March, Hiroaki Matsunami, Masashi Abe, Matthew Cobb, Kara C. Hoover
Summary: Humans, Neanderthals, and Denisovans have independently adapted to diverse geographic environments and associated food odors. By studying the ancient DNA sequences, we discovered variations in odorant receptor genes in our genus Homo. These variations in protein sequence and structure might have influenced our odor detection and perception abilities. Different variants had minimal impact on specificity but had more noticeable effects on functional sensitivity. The Neanderthal variants caused disruptions in function, while Denisovan variants led to an increased sensitivity to sweet and sulfur odors. This suggests that geographic adaptations have resulted in greater functional variation in our lineage, expanding our olfactory repertoire and adaptive capacity. Our exploration of olfactory genes and odorant receptors indicates a shared genetic repertoire within our genus, potentially associated with local ecological adaptations.
Review
Neurosciences
Bernard Mulvey, Tomas Lagunas, Joseph D. Dougherty
Summary: Studies in neuropsychiatric genetics have shown that diseases may be influenced by numerous small-effect noncoding variants and/or rare but significant coding variants. Novel genetic technologies, particularly MPRAs, offer opportunities to experimentally identify these variants on a large scale. Researchers are exploring the use of MPRA to better understand the polygenic nature of psychiatric disorders.
BIOLOGICAL PSYCHIATRY
(2021)
Article
Genetics & Heredity
Hoda A. Ahmed, Ghada Y. El-Kamah, Eman Rabie, Mostafa Mostafa, Maha R. Abouzaid, Nehal F. Hassib, Mennat Mehrez, Mohamed A. Abdel-Kader, Yasmine H. Mohsen, Suher K. Zada, Khalda S. Amr, Inas S. M. Sayed
Summary: Ectodermal dysplasia (ED) is a group of genetic disorders affecting structures derived from the ectoderm, with the most common phenotype being hypohidrotic/anhidrotic ectodermal dysplasia (HED) characterized by sparse hair, lack of sweat glands, and missing teeth. Molecular diagnosis is crucial for disease management, and the use of targeted next generation sequencing has allowed for the identification of genetic heterogeneity, variable expressivity, and intrafamilial phenotypic variability in ED patients.
Review
Genetics & Heredity
Ondrej Bonczek, Premysl Krejci, Lydie Izakovicova-Holla, Pavlina Cernochova, Igor Kiss, Borivoj Vojtesek
Summary: Tooth development is a highly complex process regulated by numerous genes, and tooth agenesis, commonly caused by genetic variations and environmental factors, may serve as a marker for cancer predisposition. Variants in genes associated with tooth agenesis are of particular interest and could potentially be used as prognostic or therapeutic targets in cancer.
Article
Health Care Sciences & Services
Kuan-Yu Chu, Yin-Lin Wang, Yu-Ren Chou, Jung-Tsu Chen, Yi-Ping Wang, James P. Simmer, Jan C. -C. Hu, Shih-Kai Wang
Summary: Familial tooth agenesis, caused by mutations in genes involved in WNT/beta-catenin signaling, is a common craniofacial anomaly in humans. This study identified pathogenic mutations in the LRP6 gene contributing to FTA and suggested that mutations in LRP6, especially in combination with WNT10A variants, may lead to more severe phenotypes.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Review
Dentistry, Oral Surgery & Medicine
F. Cavalla, A. Letra, R. M. Silva, G. P. Garlet
Summary: Periodontal and periapical lesions are infectious inflammatory osteolytic conditions mediated by a complex inflammatory immune response. The RANKL/OPG ratio plays a key role in determining osteolytic activity, which can be modulated by proinflammatory cytokines and effector cells. Understanding the molecular mechanisms associated with host response and immunological tolerance is crucial for the management of lesion activity.
JOURNAL OF DENTAL RESEARCH
(2021)
Article
Dentistry, Oral Surgery & Medicine
Akshita Mann, Yu Zeng, Timothy Kirkpatrick, Ransome van der Hoeven, Renato Silva, Ariadne Letra, Leticia Chaves de Souza
Summary: The study compared the properties of different endodontic sealers, revealing similar physicochemical properties between BCH and BC, but with higher solubility, and higher cytotoxicity for AHP. Temperature affected the setting time and flow of the sealers, indicating that the choice of sealer should be based on the obturation method.
JOURNAL OF ENDODONTICS
(2022)
Editorial Material
Dentistry, Oral Surgery & Medicine
Anita Aminoshariae, Amir Azarpazhooh, Anibal R. Diogenes, Ashraf F. Fouad, Gerald N. Glickman, Jianing He, Anil Kishen, Ariadne M. Letra, Linda Levin, Frank C. Setzer, Franklin R. Tay, Kenneth M. Hargreaves
JOURNAL OF ENDODONTICS
(2022)
Editorial Material
Dentistry, Oral Surgery & Medicine
Anita Aminoshariae, Amir Azarpazhooh, Anibal R. Diogenes, Ashraf F. Fouad, Gerald N. Glickman, Anil Kishen, Ariadne M. Letra, Linda Levin, Robert S. Roda, Frank C. Setzer, Franklin R. Tay, Kenneth M. Hargreaves
JOURNAL OF ENDODONTICS
(2021)
Editorial Material
Dentistry, Oral Surgery & Medicine
Anita Aminoshariae, Amir Azarpazhooh, Anibal R. Diogenes, Ashraf F. Fouad, Gerald N. Glickman, Jianing He, Anil Kishen, Ariadne M. Letra, Linda Levin, Frank C. Setzer, Franklin R. Tay, Kenneth M. Hargreaves
JOURNAL OF ENDODONTICS
(2022)
Editorial Material
Dentistry, Oral Surgery & Medicine
Anita Aminoshariae, Amir Azarpazhooh, Anibal R. Diogenes, Ashraf F. Fouad, Gerald N. Glickman, Jianing He, Anil Kishen, Ariadne M. Letra, Linda Levin, Frank C. Setzer, Franklin R. Tay, Kenneth M. Hargreaves
JOURNAL OF ENDODONTICS
(2022)
Editorial Material
Dentistry, Oral Surgery & Medicine
Anita Aminoshariae, Amir Azarpazhooh, Anibal R. Diogenes, Ashraf F. Fouad, Gerald N. Glickman, Jianing He, Anil Kishen, Ariadne M. Letra, Linda Levin, Frank C. Setzer, Franklin R. Tay, Kenneth M. Hargreaves
JOURNAL OF ENDODONTICS
(2022)
Editorial Material
Dentistry, Oral Surgery & Medicine
Anita Aminoshariae, Amir Azarpazhooh, Anibal R. Diogenes, Ashraf F. Fouad, Gerald N. Glickman, Jianing He, Anil Kishen, Ariadne M. Letra, Linda Levin, Frank C. Setzer, Franklin R. Tay, Kenneth M. Hargreaves
JOURNAL OF ENDODONTICS
(2022)
Article
Dentistry, Oral Surgery & Medicine
Grace M. De Souza, Tamanna Tiwari, Christopher H. Fox, Patricia A. Miguez, Ariadne Letra, Maria L. Geisinger, Mangala Patel, Luciana Shaddox, Effie Ioannidou
Summary: This study investigated the impact of the COVID-19 pandemic on research productivity, work-life arrangements, and mental health of dental professionals worldwide. The findings revealed that younger individuals and women were disproportionately affected, and institutional support played a crucial role in mitigating the effects of the pandemic.
JOURNAL OF DENTAL EDUCATION
(2023)
Review
Endocrinology & Metabolism
Ariadne Letra
Summary: This review summarizes the recent progress in genetic studies on nonsyndromic tooth agenesis, discussing the challenges and advancements in understanding the underlying genetic factors. It highlights the role of next-generation sequencing technologies in identifying new genes and variants related to the condition.
CURRENT OSTEOPOROSIS REPORTS
(2022)
Article
Dentistry, Oral Surgery & Medicine
Jordano Francio, Glaucia T. das Neves, Leticia C. Souza, Everdan Carneiro, Renato M. Silva, Ariadne Letra
Summary: This study aims to evaluate the expression of genes involved in chronic pain conditions in apical periodontitis (AP) tissues. The findings show that MMP9, TIMP1, TNFA, CAMK4, and COMT are significantly upregulated in AP tissues, indicating their potential involvement in AP pathogenesis.
INTERNATIONAL ENDODONTIC JOURNAL
(2023)
Article
Dentistry, Oral Surgery & Medicine
Han Na Cho, Leticia Chaves de Souza, Cleverick Johnson, John R. Klein, Timothy C. Kirkpatrick, Renato Silva, Ariadne Letra
Summary: This study compared the differential gene expression in dental pulp tissues between individuals with a history of COVID-19 and those without. The results suggest that COVID-19 may dysregulate the expression of inflammatory genes in inflamed dental pulp.
JOURNAL OF ENDODONTICS
(2023)
Article
Dentistry, Oral Surgery & Medicine
Lauren E. Petty, Renato Silva, Leticia Chaves de Souza, Alexandre R. Vieira, Douglas M. Shaw, Jennifer E. Below, Ariadne Letra
Summary: This study is the first genome-wide association study of apical periodontitis (AP) in a large and well-characterized population. It identified novel genes/loci associated with AP and specific contributions to AP risk in men and women. Additionally, it revealed significant associations with other systemic conditions. These findings provide strong evidence for host-mediated effects on AP susceptibility.
JOURNAL OF ENDODONTICS
(2023)
Article
Dentistry, Oral Surgery & Medicine
Talita Tartari, Caroline Wichnieski, Renato Menezes Silva, Ariadne Letra, Marco Antonio Hungaro Duarte, Clovis Monteiro Bramante
Summary: Different final irrigation protocols can affect the dentin surface characteristics and the adhesion of endodontic sealers. Among them, the protocols of 2.5% sodium hypochlorite (NaOCl) + 17% ethylenediaminetetraacetic acid (EDTA) and 5% NaOCl + 18% etidronate (HEDP) showed relatively high push-out bond strength after 7 days and 20 months.
JOURNAL OF APPLIED ORAL SCIENCE
(2023)
Review
Dentistry, Oral Surgery & Medicine
L. Sangalli, L. C. Souza, A. Letra, L. Shaddox, E. Ioannidou
Summary: There has been a growing interest in the scientific community regarding the influence of sex and gender differences on health and disease. This is particularly important in the field of oral diseases, where evidence suggests that sexual dimorphism plays a role in disease predisposition and progression. However, current research lacks consideration of gender and other psychosocial and external factors that may impact oral health.
JOURNAL OF DENTAL RESEARCH
(2023)