Article
Anatomy & Morphology
Ludivine Bertonnier-Brouty, Laurent Viriot, Thierry Joly, Cyril Charles
Summary: This study used the European rabbit as a model for mammalian tooth development and replacement, providing data on key regulators of tooth development. The presence of LEF1(+) cells and absence of mesenchymal RUNX2 and epithelial Sostdc1(+) cells correlate with the initiation and maintenance of tooth replacement.
DEVELOPMENTAL DYNAMICS
(2021)
Article
Dentistry, Oral Surgery & Medicine
K. Isono, E. Takahashi, I Miyoshi, M. Tsuneto, M. Hikosaka-Kuniishi, T. Yamane, H. Yamazaki
Summary: The tooth is mainly composed of dentin and enamel, and identification of dentin-producing odontoblasts and enamel-producing ameloblasts using reporter techniques is crucial for studying tooth development and tissue engineering regeneration. By establishing transgenic mouse lines labeling odontoblasts and ameloblasts, researchers were able to track the expression patterns of related genes and observe changes in enamel volume and dentin mineral density, providing valuable insights for tooth development and regeneration research. Additionally, examining the expression of specific cell surface molecules in these mice allowed for easy distinction and isolation of odontoblasts and ameloblasts, contributing to further studies in differentiation processes.
JOURNAL OF DENTAL RESEARCH
(2021)
Article
Dentistry, Oral Surgery & Medicine
O. Grgic, V. Prijatelj, A. Dudakovic, S. Vucic, B. Dhamo, K. Trajanoska, C. Monnereau, M. Zrimsek, K. M. Gautvik, S. Reppe, E. Shimizu, S. Haworth, N. J. Timpson, V. W. V. Jaddoe, M. -R. Jarvelin, D. Evans, A. G. Uitterlinden, E. M. Ongkosuwito, A. J. van Wijnen, C. Medina-Gomez, F. Rivadeneira, E. B. Wolvius
Summary: Dental occlusion development requires harmonious interaction of various factors. By conducting a genome-wide association study (GWAS), we identified multiple genetic variants and loci associated with dental development, providing insights into the polygenic architecture of this process in children.
JOURNAL OF DENTAL RESEARCH
(2023)
Article
Multidisciplinary Sciences
Simon A. Chapple, Matthew M. Skinner
Summary: Studies have shown that the current nomenclature system for primate molar teeth is inadequate in accurately identifying and distinguishing the various structures of the crown surface. Investigations of mandibular crown morphology at the enamel-dentine junction have revealed new patterns of lower molar accessory cusp expression, which differ from the expected patterns based on existing literature. In light of this, a conservative naming scheme based on simple location-based categorizations is proposed until a better understanding of the developmental and phylogenetic origin of these structures is achieved.
Article
Dentistry, Oral Surgery & Medicine
Jennifer Tsi Gerber, Katheleen Miranda dos Santos, Bruna Karas Brum, Maria Fernanda Pivetta Petinati, Michelle Nascimento Meger, Delson Joao da Costa, Mohammed Elsalanty, Erika Calvano Kuchler, Rafaela Scariot
Summary: The study identified associations between genetic polymorphisms and variations in permanent tooth size, suggesting a potential role of these genes in dental morphology.
CLINICAL ORAL INVESTIGATIONS
(2021)
Review
Biochemistry & Molecular Biology
Sherif A. Mohamad, Michael R. Milward, Mohammed A. Hadis, Sarah A. Kuehne, Paul R. Cooper
Summary: Studies indicate that photobiomodulation has a positive effect on MSC proliferation and mineralized tissue differentiation, but there are variations in irradiation parameters that need further research. Light stimulates MSC differentiation by enhancing respiratory chain activity and increasing reactive oxygen species levels, potentially serving as an effective therapeutic approach to clinically support MSC-mediated hard tissue repair after optimization.
PHOTOCHEMICAL & PHOTOBIOLOGICAL SCIENCES
(2021)
Article
Dentistry, Oral Surgery & Medicine
Y. Xiao, Y. X. Lin, Y. Cui, Q. Zhang, F. Pei, H. Y. Zuo, H. Liu, Z. Chen
Summary: ZEB1 plays a critical role in odontoblastic differentiation, promoting early odontoblast differentiation and directly enhancing dentinogenesis in the late stage.
JOURNAL OF DENTAL RESEARCH
(2021)
Article
Dentistry, Oral Surgery & Medicine
E. -j. Kim, H. -y. Kim, L. Li, Q. Tang, K. -h. Kim, H. Ohshima, H. -s. Jung
Summary: The enamel knot (EK) is a cluster of nondividing epithelial cells that acts as a signaling center in tooth germs. This study analyzed the cellular mechanisms in the EK related to bone morphogenetic protein (Bmp) and compared two species with different cuspal patterning. The findings suggest that the cellular mechanisms in the EK, such as cell proliferation and apoptosis, are associated with Bmp4 and play a crucial role in tooth morphogenesis.
JOURNAL OF DENTAL RESEARCH
(2023)
Review
Cell Biology
Florian Hermans, Lara Hemeryck, Ivo Lambrichts, Annelies Bronckaers, Hugo Vankelecom
Summary: Tooth development relies on interactions between dental epithelium and mesenchyme, regulated by molecular pathways including Wnt, BMP, FGF, and Shh. These signaling modules intertwine during tooth development, outlining specific cell populations' development pathways.Recent studies have uncovered crucial Wnt-Shh interactions during odontogenesis, showing conservation in developing ectodermal appendages.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Developmental Biology
Alyssa J. Rowley, Tyler A. Square, Craig T. Miller
Summary: Development and regeneration are controlled by gene regulatory networks, including transcriptional enhancers. This study focuses on the pleiotropy of an intronic enhancer of the Bmp6 gene and shows that the enhancer's pleiotropy is due to the site pleiotropy of a predicted Foxc1 TFBS.
DEVELOPMENTAL BIOLOGY
(2022)
Article
Anatomy & Morphology
Erika Calvano Kuechler, Rafaela Mariana de Lara, Marjorie Ayumi Omori, Agnes Schroeder, Vinicius Broska Teodoro, Flares Baratto-Filho, Jorge Esquiche Leon, Peter Proff, Isabela Ribeiro Madalena, Christian Kirschneck
Summary: The study found that estrogen deficiency affects gene expression and tooth structure morphology during tooth development in mice. Estrogen plays an important role in the development and morphology of teeth.
ANNALS OF ANATOMY-ANATOMISCHER ANZEIGER
(2021)
Article
Biochemistry & Molecular Biology
Alexey A. Ivanov, Tamara I. Danilova, Alla V. Kuznetsova, Olga P. Popova, Oleg O. Yanushevich
Summary: The regeneration of periodontal tissues is important for the treatment of periodontitis. This study investigated the osteogenic and odontogenic differentiation of periodontal progenitor and stem cells in decellularized tooth matrix (dTM) and periodontal ligament (dPDL) in both 2D and 3D culture conditions. The results showed that the combination of dTM and dPDL promoted both osteogenic and odontogenic differentiation of periodontal cells.
Article
Multidisciplinary Sciences
Garrett A. Roberts Kingman, Deven N. Vyas, Felicity C. Jones, Shannon D. Brady, Heidi I. Chen, Kerry Reid, Mark Milhaven, Thomas S. Bertino, Windsor E. Aguirre, David C. Heins, Frank A. von Hippel, Peter J. Park, Melanie Kirch, Devin M. Absher, Richard M. Myers, Federica Di Palma, Michael A. Bell, David M. Kingsley, Krishna R. Veeramah
Summary: This study explores the repeated evolution in stickleback to identify key genomic loci that change during colonization of freshwater habitats by marine fish, showing rapid genotypic and phenotypic changes within 5 years. The speed and location of these changes can be predicted using empirical observations or fundamental genomic features, suggesting the importance of similar features for evolution across diverse taxa.
Article
Biochemistry & Molecular Biology
Foen Peng, Kimberly M. Ballare, S. Hollis Woodard, Stijn den Haan, Daniel I. Bolnick
Summary: The study found high diversity in the MHC II beta genes in a stickleback population, with many of them positively or negatively correlating with parasite load, suggesting an impact on resistance or susceptibility. However, no evidence was found supporting the hypotheses of MHC heterozygote advantage, frequency-dependent selection, or fluctuating selection. Instead, MHC diversity was found to be more influenced by neutral processes.
Article
Microbiology
Marzieh Kashkouli, Michele Castelli, Anna M. Floriano, Claudio Bandi, Sara Epis, Yaghoub Fathipour, Mohammad Mehrabadi, Davide Sassera
Summary: Phytophagous stink bugs carry nutritional symbiotic bacteria in their midgut to balance their diet, with most symbionts in the Pentatomidae affiliated to the genus Pantoea. A novel Pantoea species ('Candidatus Pantoea persica') was discovered in the gut of the pentatomid Acrosternum arabicum, which is important for host development. Comparative analyses showed a convergent pattern of genome reduction in symbionts of pentatomids, following typical models of obligate nutritional symbionts in insects.
ENVIRONMENTAL MICROBIOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Joe-Elie Salem, M. Benjamin Shoemaker, Lisa Bastarache, Christian M. Shaffer, Andrew M. Glazer, Brett Kroncke, Quinn S. Wells, Mingjian Shi, Peter Straub, Gail P. Jarvik, Eric B. Larson, Digna R. Velez Edwards, Todd L. Edwards, Lea K. Davis, Hakon Hakonarson, Chunhua Weng, David Fasel, Bjorn C. Knollmann, Thomas J. Wang, Joshua C. Denny, Patrick T. Ellinor, Dan M. Roden, Jonathan D. Mosley
Article
Genetics & Heredity
Andrew M. Glazer, Yuko Wada, Bian Li, Ayesha Muhammad, Olivia R. Kalash, Matthew J. O'Neill, Tiffany Shields, Lynn Hall, Laura Short, Marcia A. Blair, Brett M. Kroncke, John A. Capra, Dan M. Roden
AMERICAN JOURNAL OF HUMAN GENETICS
(2020)
Article
Genetics & Heredity
Brett M. Kroncke, Derek K. Smith, Yi Zuo, Andrew M. Glazer, Dan M. Roden, Jeffrey D. Blume
Article
Cardiac & Cardiovascular Systems
Zachary T. Yoneda, Katherine C. Anderson, Joseph A. Quintana, Matthew J. O'Neill, Richard A. Sims, Andrew M. Glazer, Christian M. Shaffer, Diane M. Crawford, Thomas Stricker, Fei Ye, Quinn Wells, Lynne W. Stevenson, Gregory F. Michaud, Dawood Darbar, Steven A. Lubitz, Patrick T. Ellinor, Dan M. Roden, M. Benjamin Shoemaker
Summary: Genetic testing in patients with early-onset AF identified a disease-associated variant in 10% of participants, with a higher prevalence in those diagnosed before 30 years of age. Most pathogenic/likely pathogenic variants are located in genes associated with cardiomyopathy.
Article
Cardiac & Cardiovascular Systems
Krystian Kozek, Yuko Wada, Luca Sala, Isabelle Denjoy, Christian Egly, Matthew J. O'Neill, Takeshi Aiba, Wataru Shimizu, Naomasa Makita, Taisuke Ishikawa, Lia Crotti, Carla Spazzolini, Maria-Christina Kotta, Federica Dagradi, Silvia Castelletti, Matteo Pedrazzini, Massimiliano Gnecchi, Antoine Leenhardt, Joe-Elie Salem, Seiko Ohno, Yi Zuo, Andrew M. Glazer, Jonathan D. Mosley, Dan M. Roden, Bjorn C. Knollmann, Jeffrey D. Blume, Fabrice Extramiana, Peter J. Schwartz, Minoru Horie, Brett M. Kroncke
Summary: Genetic profiling has shown associations between genetic variations and disease, yet pathogenic variants are common in healthy populations. The predictive value of these variants in disease diagnosis needs further investigation.
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Yuko Wada, Tao Yang, Christian M. Shaffer, Laura L. Daniel, Andrew M. Glazer, Giovanni E. Davogustto, Brandon D. Lowery, Eric H. Farber-Eger, Quinn S. Wells, Dan M. Roden
Summary: This study found that two common variants (S1103Y and R1193Q) of the cardiac sodium channel gene do not affect baseline repolarization but increase the risk of QT prolongation when exposed to I-Kr blockers. This highlights the importance of including diverse populations in the study of adverse drug reactions.
Article
Cardiac & Cardiovascular Systems
Andrew M. Glazer, Giovanni Davogustto, Christian M. Shaffer, Carlos G. Vanoye, Reshma R. Desai, Eric H. Farber-Eger, Ozan Dikilitas, Ning Shang, Jennifer A. Pacheco, Tao Yang, Ayesha Muhammad, Jonathan D. Mosley, Sara L. Van Driest, Quinn S. Wells, Lauren Lee Shaffer, Olivia R. Kalash, Yuko Wada, Sarah Bland, Zachary T. Yoneda, Devyn W. Mitchell, Brett M. Kroncke, Iftikhar J. Kullo, Gail P. Jarvik, Adam S. Gordon, Eric B. Larson, Teri A. Manolio, Tooraj Mirshahi, Jonathan Z. Luo, Daniel Schaid, Bahram Namjou, Tarek Alsaied, Rajbir Singh, Ashutosh Singhal, Cong Liu, Chunhua Weng, George Hripcsak, James D. Ralston, Elizabeth M. McNally, Wendy K. Chung, David S. Carrell, Kathleen A. Leppig, Hakon Hakonarson, Patrick Sleiman, Sunghwan Sohn, Joseph Glessner, Joshua Denny, Wei-Qi Wei, Alfred L. George, M. Benjamin Shoemaker, Dan M. Roden
Summary: This study sequenced Mendelian arrhythmia genes in a large population without indication for arrhythmia genetic testing, identifying carriers of pathogenic or likely pathogenic variants. The study found that these variants were associated with higher burden of arrhythmia phenotypes and led to new diagnoses in some cases. By integrating genomic screening, electronic health record phenotypes, and in vitro functional studies, the disease risk from rare variants in arrhythmia genes can be assessed.
Article
Biochemistry & Molecular Biology
Alican Gulsevin, Andrew M. Glazer, Tiffany Shields, Brett M. Kroncke, Dan M. Roden, Jens Meiler
Summary: This study identifies the binding site of veratridine (VTD) on the cardiac sodium ion channel (Na(V)1.5) using docking calculations and high-throughput electrophysiology experiments. The results suggest that VTD binds near the cytoplasmic mouth of the channel pore, potentially indicating an allosteric inactivation mechanism for VTD at Na(V)1.5.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Matthew J. O'Neill, Ayesha Muhammad, Bian Li, Yuko Wada, Lynn Hall, Joseph F. Solus, Laura Short, Dan M. Roden, Andrew M. Glazer
Summary: This study aimed to investigate the dominant negative effects and clinical severity of loss-of-function variants in the cardiac sodium channel gene in patients with Brugada syndrome. The results showed that most loss-of-function variants exert dominant negative effects and are associated with an increased disease burden in Brugada syndrome.
GENETICS IN MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Zachary T. Yoneda, Katherine C. Anderson, Fei Ye, Joseph A. Quintana, Matthew J. O'Neill, Richard A. Sims, Lili Sun, Andrew M. Glazer, Giovanni Davogustto, Majd El-Harasis, James L. Laws, Brittany N. Saldivar, Diane M. Crawford, Thomas Stricker, Quinn Wells, Dawood Darbar, Gregory F. Michaud, Lynne W. Stevenson, Steven A. Lubitz, Patrick T. Ellinor, Dan M. Roden, M. Benjamin Shoemaker
Summary: This study assessed the association between rare variants in cardiomyopathy and arrhythmia genes and time to death in patients with early-onset atrial fibrillation (AF). The findings suggest that disease-associated variants may be associated with increased mortality risk, especially in those diagnosed at a younger age.
Article
Cardiac & Cardiovascular Systems
Matthew J. O'Neill, Yuko Wada, Lynn D. Hall, Devyn W. Mitchell, Andrew M. Glazer, Dan M. Roden
Summary: This study used two functional assays to assess splice-altering variants outside canonical splice sites in genes associated with Brugada syndrome and long QT syndrome. The results showed that these variants can cause aberrant splicing and disruption of protein sequence. By reclassifying these variants, our understanding of mutations in these disease-associated genes has been improved.
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Kevin R. Bersell, Tao Yang, Jonathan D. Mosley, Andrew M. Glazer, Andrew T. Hale, Dmytro O. Kryshtal, Kyungsoo Kim, Jeffrey D. Steimle, Jonathan D. Brown, Joe-Elie Salem, Courtney C. Campbell, Charles C. Hong, Quinn S. Wells, Amanda N. Johnson, Laura Short, Marcia A. Blair, Elijah R. Behr, Evmorfia Petropoulou, Yalda Jamshidi, Mark D. Benson, Michelle J. Keyes, Debby Ngo, Ramachandran S. Vasan, Qiong Yang, Robert E. Gerszten, Christian Shaffer, Shan Parikh, Quanhu Sheng, Prince J. Kannankeril, Ivan P. Moskowitz, John D. York, Thomas J. Wang, Bjorn C. Knollmann, Dan M. Roden
Summary: Brugada syndrome (BrS) is caused by loss-of-function variants in the SCN5A gene, but a family with BrS and a rare TBX5 variant has been identified. The study found that the TBX5 variant decreased SCN5A transcription, resulting in enhanced late sodium current (I-Na) and other electrophysiological abnormalities. Additionally, abnormal PDGF/PI3K signaling was found to be associated with the development of Brugada syndrome.
Article
Cell Biology
Andrew M. Glazer
Summary: Congenital arrhythmia syndromes are rare genetic disorders that can increase the risk of sudden cardiac death. Fifteen genes have been identified as being associated with these disorders, mainly encoding cardiac ion channel proteins or regulatory proteins. Common genetic variations affect the risk of rare variants and contribute to the incomplete penetrance of these disorders. New methods such as phenotype risk scores, large cohorts, in vitro functional assays, structural models, and computational predictions are helping to improve our understanding of arrhythmia genetics.
CURRENT OPINION IN GENETICS & DEVELOPMENT
(2022)
Editorial Material
Cardiac & Cardiovascular Systems
Brendan J. Floyd, Jochen Weile, Prince J. Kannankeril, Andrew M. Glazer, Chloe M. Reuter, Calum A. MacRae, Euan A. Ashley, Dan M. Roden, Frederick P. Roth, Victoria N. Parikh
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Matthew J. O'Neill, Suet Nee Chen, Lynne Rumping, Renee Johnson, Marjon van Slegtenhorst, Andrew M. Glazer, Tao Yang, Joseph F. Solus, Julie Laudeman, Devyn W. Mitchell, Loren R. Vanags, Brett M. Kroncke, Katherine Anderson, Shanshan Gao, Job A. J. Verdonschot, Han Brunner, Debby Hellebrekers, Matthew R. G. Taylor, Dan M. Roden, Marja W. Wessels, Ronald H. Lekanne Dit Deprez, Diane Fatkin, Luisa Mestroni, M. Benjamin Shoemaker
Summary: This study investigates a recurrent FLNC intronic variant of uncertain significance and its clinical and functional consequences in arrhythmogenic cardiomyopathy. Through clinical data, in silico prediction, and functional studies, it is found that the variant disrupts splicing and drives the disease. These findings suggest reclassification of the variant from uncertain significance to pathogenic.