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
Dentistry, Oral Surgery & Medicine
J-M Lee, C. Qin, O. H. Chai, Y. Lan, R. Jiang, H-J E. Kwon
Summary: Tooth agenesis is a common birth defect that occurs due to morphogenesis failure in early tooth development. This study shows that Msx1 regulates Wnt signaling by suppressing the expression of Dkk2 and Sfrp2, and that Sostdc1/Wise also plays a role in the odontogenic pathway downstream of Msx1. The findings suggest that modulation of Wnt signaling by Dkk2 and Sostdc1 is crucial for proper tooth morphogenesis.
JOURNAL OF DENTAL RESEARCH
(2022)
Article
Dentistry, Oral Surgery & Medicine
Janna Mitscherling, Henrike L. Sczakiel, Olga Kiskemper-Nestorjuk, Sibylle Winterhalter, Stefan Mundlos, Theodosia Bartzela, Martin A. Mensah
Summary: Whole genome sequencing can provide insights into the genetic causes of tooth agenesis.
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)
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
Dentistry, Oral Surgery & Medicine
Marija Zivkovic, Neda Stefanovie, Branislav Glisic, Gavrilo Brajovic, Biljana Milicic, Marija Kostic, Branka Popovic
Summary: The study aimed to investigate the prevalence of WNT10A and RUNX2 gene mutations in non-syndromic tooth agenesis and assess their potential impact on the phenotype. There was a higher prevalence of hypodontia and oligodontia, with a higher frequency of missing teeth in females. Common mutations include p.Phe228Ile, p.Arg113Cys, p.Asp217Asn, p.Gly165Arg, and others.
EUROPEAN JOURNAL OF ORAL SCIENCES
(2022)
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
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
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
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
Dentistry, Oral Surgery & Medicine
Meredith Williams, Yu Zeng, Brett Chiquet, Helder Jacob, Fred Kurtis Kasper, Daniel A. Harrington, Jeryl English, Sercan Akyalcin, Ariadne Letra
Summary: Our in vitro study showed that ATF1, WNT10B, and GREM2 mutant alleles have modulatory effects on gene/protein function that may contribute to tooth agenesis (TA). Mutant variants led to decreased transcriptional activity of respective genes and altered cell migration and proliferation, indicating their potential role in the development of TA.
ORTHODONTICS & CRANIOFACIAL RESEARCH
(2021)
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
Medicine, Research & Experimental
Ozan ozdemir, Okan ovunc, Ozgur Yigit
Summary: Congenital stapes fixation is a rare condition characterized by non-progressive conductive hearing loss, often accompanied by additional middle ear anomalies. Rare cases may also present with cleft palate and oligodontia. However, there is limited literature available on this condition.
Review
Biochemistry & Molecular Biology
Anna Jaruga, Jakub Ksiazkiewicz, Krystian Kuzniarz, Przemko Tylzanowski
Summary: Many complex molecular interactions are involved in craniofacial development, making it susceptible to genetic mutations that cause congenital malformations. Orofacial clefts and prognathism are common birth anomalies within the head and neck. Both can occur as isolated abnormalities or in combination with syndromic disorders, and are often hereditary. This review summarizes current knowledge of the genetics and genotype-phenotype correlations of these phenotypes, and discusses animal models used to study these defects.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Genetics & Heredity
Arwa Babai, Melita Irving
Summary: Orofacial clefting is a common birth defect worldwide, presenting as cleft lip only, isolated cleft palate or cleft lip and palate. It has a diverse genetic background influenced by gene-gene and gene-environment interaction, resulting in syndromic and nonsyndromic orofacial clefts. Orofacial clefts cause significant physiological difficulties, impacting feeding, speech and language development, and other developmental aspects, leading to increased social and financial burden. The management of orofacial clefts requires a multidisciplinary team approach.
Article
Dentistry, Oral Surgery & Medicine
Ruben Houkes, Johannes Smit, Peter Mossey, Peter Don Griot, Martin Persson, Amanda Neville, Edwin Ongkosuwito, Tom Sitzman, Corstiaan Breugem
Summary: This study investigated the commonly used classification systems by cleft providers worldwide and their perceived indications and limitations. The results showed a great variety in the use of classification systems among craniofacial specialists, and recommended the usage of the LAHSHAL classification system due to its comprehensiveness and potential to overcome deficiencies in other systems.
CLEFT PALATE CRANIOFACIAL JOURNAL
(2023)
Editorial Material
Pediatrics
Paula L. Hedley, Marie Baekvad-Hansen, Gitte Hedermann, Henrik Hjalgrim, David M. Hougaard, Mads Melbye, Morten Breindahl, Lone Krebs, Anders Hviid, Ulrik Lausten-Thomsen, Michael Christiansen
Review
Endocrinology & Metabolism
Dylan J. M. Bergen, Antonio Maurizi, Melissa M. Formosa, Georgina L. K. McDonald, Ahmed El-Gazzar, Neelam Hassan, Maria-Luisa Brandi, Jose A. Riancho, Fernando Rivadeneira, Evangelia Ntzani, Emma L. Duncan, Celia L. Gregson, Douglas P. Kiel, M. Carola Zillikens, Luca Sangiorgi, Wolfgang Hogler, Ivan Duran, Outi Makitie, Wim Van Hul, Gretl Hendrickx
Summary: This article describes 59 high bone mass disorders and their underlying genetic causes, with a focus on the signaling pathways and mechanisms involved. The authors classify the known genes into subgroups based on a uniform Gene Ontology terminology, providing potential insights for experimental design and genetic screening. Additionally, the authors discuss the application of functional genomics in discovering new genes and mechanisms in high bone mass disorders, highlighting the importance of multidisciplinary collaborations and knowledge transfer from the laboratory to the clinic. (c) 2022 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).
JOURNAL OF BONE AND MINERAL RESEARCH
(2023)
Review
Dentistry, Oral Surgery & Medicine
Edwin M. Ongkosuwito, Mette A. R. Kuijpers
Summary: An orofacial cleft (OC) is a congenital cleft that affects the lip, alveolus, hard and soft palate, causing physical and functional problems. Patient reported Outcome (PRO) and experience (PRE) measures are important to improve care for OC patients. The current framework for OC assessment should include social network support and focus on enhancing experiences. Combining traditional indicators with PROMs can provide better understanding and enable shared decision making for OC patients, empowering them.
JOURNAL OF EVIDENCE-BASED DENTAL PRACTICE
(2023)
Article
Psychiatry
Marie-Louise H. Rasmussen, Gry J. Poulsen, Poul Videbech, Jan Wohlfahrt, Mads Melbye
Summary: Previous research suggests that women with endocrine disease may have an increased risk of postpartum depression (PPD) due to their sensitivity to hormonal fluctuations. This nationwide cohort study aimed to investigate the association between endocrine disease history and PPD risk. The study included 888,989 deliveries and found that women with endocrine disease history had a 42% higher risk of PPD compared to those without. Interestingly, women with a history of PPD also had a 50% higher risk of endocrine disease. These findings highlight the importance of monitoring and providing support for pregnant women with endocrine disease to prevent and address PPD.
BRITISH JOURNAL OF PSYCHIATRY
(2023)
Article
Endocrinology & Metabolism
Arvid Engstroem, Viktor Wintzell, Mads Melbye, Anders Hviid, Bjoern Eliasson, Soffia Gudbjoernsdottir, Kristian Hveem, Christian Jonasson, Henrik Svanstroem, Bjoern Pasternak, Peter Ueda
Summary: Using nationwide registers data from Denmark, Norway, and Sweden, this study demonstrates an association between the use of SGLT2 inhibitors and the risk of new-onset atrial fibrillation. Compared to GLP-1 receptor agonists, SGLT2 inhibitors are associated with a modestly reduced risk of new-onset atrial fibrillation.
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
Obstetrics & Gynecology
X. Liu, M. Kayser, S. A. Kushner, H. Tiemeier, F. Rivadeneira, V. W. V. Jaddoe, W. J. Niessen, E. B. Wolvius, G. Roshchupkin
Summary: This study found that low-to-moderate levels of prenatal alcohol exposure (PAE) were associated with children's facial shape, even at levels below 12 g of alcohol per week. However, this association diminished as children grew older.
HUMAN REPRODUCTION
(2023)
Article
Genetics & Heredity
Pol Sole-Navais, Christopher Flatley, Valgerdur L. Steinthorsdottir, Marc Vaudel, Julius Juodakis, Jing Chen, Triin Laisk, Abigail C. LaBella, David Westergaard, Jonas Bacelis, Ben Brumpton, Line Skotte, Maria Borges, Oyvind A. Helgeland, Anubha Mahajan, Matthias N. Wielscher, Frederick P. Lin, Catherine Briggs, Carol Wang, Gunn-Helen E. Moen, Robin R. Beaumont, Jonathan Bradfield, Abin A. Abraham, Gudmar Thorleifsson, Maiken Gabrielsen, Sisse Ostrowski, Dominika Modzelewska, Ellen M. Nohr, Elina Hypponen, Amit M. Srivastava, Octavious Talbot, Catherine Allard, Scott Williams, Ramkumar Menon, Beverley Shields, Gardar Sveinbjornsson, Huan B. Xu, Mads F. Melbye, William Lowe, Luigi Bouchard, Emily I. Oken, Ole I. Pedersen, Daniel T. Gudbjartsson, Christian Erikstrup, Erik Sorensen, Rolv Lie, Kari Teramo, Mikko T. Hallman, Thorhildur Juliusdottir, Hakon Hakonarson, Henrik L. Ullum, Andrew Hattersley, Line Sletner, Mario Merialdi, Sheryl Rifas-Shiman, Thora Steingrimsdottir, Denise A. Scholtens, Christine H. Power, Jane West, Mette A. Nyegaard, John Capra, Anne Skogholt, Per Magnus, Ole E. Andreassen, Unnur Thorsteinsdottir, Struan F. A. M. Grant, Elisabeth Qvigstad, Craig I. Pennell, Marie-France A. Hivert, Geoffrey M. Hayes, Marjo-Riitta Jarvelin, Mark I. McCarthy, Deborah Lawlor, Henriette Nielsen, Reedik Maegi, Antonis Rokas, Kristian Hveem, Kari J. Stefansson, Bjarke M. Feenstra, Pal Njolstad, Louis Muglia, Rachel Freathy, Stefan Johanson, Ge Zhang, Bo Jacobsson
Summary: The study conducted a meta-analysis and identified genetic variants associated with gestational duration and preterm delivery. It revealed the importance of maternal alleles in influencing gestational duration and the complex relationship between gestational duration and birth weight. The study also identified antagonistic pleiotropy, where maternal alleles that increase gestational duration have negative effects on birth weight.
Article
Multidisciplinary Sciences
Victoria de Knegt, Paula Hedley, Gitte N. Hedermann, Casper Wilstrup, Marie Baekvad-Hansen, Ida Thagaard, Henrik M. Hjalgrim, Jorgen Kanters, Mads Melbye, David Hougaard, Anders Hviid, Lone Krebs, Morten Breindahl, Ulrik Lausten-Thomsen, Michael Christiansen
Summary: A nationwide COVID-19 lockdown in Denmark resulted in a reduced prevalence of extremely preterm or extremely low birthweight births. This study aimed to investigate the impact of the lockdown on term birthweights in Denmark. The findings showed a small but significant increase in birthweight during the lockdown period, primarily driven by an increase in birthweight in gestational weeks 40 and 41. Additionally, the proportion of infants with a large-for-gestational-age (LGA) increased during the lockdown.
Article
Medicine, General & Internal
Giulia Corn, Mads Melbye, Mark A. Hlatky, Jan Wohlfahrt, Marie Lund
Summary: A study found that low to moderate-intensity statins are more effective in reducing LDL-C levels in older adults compared to younger individuals, suggesting that they may be a more appealing initial treatment option for the elderly.
ANNALS OF INTERNAL MEDICINE
(2023)
Article
Dentistry, Oral Surgery & Medicine
M. Aarts, S. Mettenberger, E. M. Bronkhorst, E. M. Ongkosuwito
Summary: This study investigated the impact of oligodontia on appearance and on the functional and psychosocial aspects of oral health-related quality of life (OHrQoL) in patients aged 8-29 years. It was found that patients with oligodontia scored lower in the domain of 'eating and drinking' and that the number of congenitally missing teeth, age, and gender had significant effects on OHrQoL.
JOURNAL OF DENTISTRY
(2023)
Article
Cardiac & Cardiovascular Systems
Niklas Worm Andersson, Giulia Corn, Tine Lovso Dohlmann, Mads Melbye, Jan Wohlfahrt, Marie Lund
Summary: Reducing LDL cholesterol through lipid-lowering therapy has been shown to effectively lower the risk of cardiovascular disease in individuals under 70 years old, but the evidence is less clear for older individuals. This study compared the clinical effectiveness of lowering LDL cholesterol through lipid-lowering therapy for primary prevention of cardiovascular disease in older and younger individuals, and found that the risk reduction effect was similar between the two age groups.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2023)
Article
Genetics & Heredity
Gyda Bjornsdottir, Mona A. Chalmer, Lilja Stefansdottir, Astros Th. Skuladottir, Gudmundur Einarsson, Margret Andresdottir, Doruk Beyter, Egil Ferkingstad, Solveig Gretarsdottir, Bjarni V. Halldorsson, Gisli H. Halldorsson, Anna Helgadottir, Hannes Helgason, Grimur Hjorleifsson Eldjarn, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Ingileif Jonsdottir, Kirk U. Knowlton, Lincoln D. Nadauld, Sigrun H. Lund, Olafur Th. Magnusson, Pall Melsted, Kristjan H. S. Moore, Asmundur Oddsson, Pall I. Olason, Asgeir Sigurdsson, Olafur A. Stefansson, Jona Saemundsdottir, Gardar Sveinbjornsson, Vinicius Tragante, Unnur Unnsteinsdottir, G. Bragi Walters, Florian Zink, Linn Rodevand, Ole A. Andreassen, Jannicke Igland, Rolv T. Lie, Jan Haavik, Karina Banasik, Soren Brunak, Maria Didriksen, Mie T. Bruun, Christian Erikstrup, Lisette J. A. Kogelman, Kaspar R. Nielsen, Erik Sorensen, Ole B. Pedersen, Henrik Ullum, Gisli Masson, Unnur Thorsteinsdottir, Jes Olesen, Petur Ludvigsson, Olafur Thorarensen, Anna Bjornsdottir, Gudrun R. Sigurdardottir, Olafur A. Sveinsson, Sisse R. Ostrowski, Hilma Holm, Daniel F. Gudbjartsson, Gudmar Thorleifsson, Patrick Sulem, Hreinn Stefansson, Thorgeir E. Thorgeirsson, Thomas F. Hansen, Kari Stefansson
Summary: This study combines large GWAS datasets from six European populations to investigate the main subtypes of migraine and identifies new susceptibility loci associated with migraine and its subtypes. Rare variants with large effects on PRRT2, SCN11A, and KCNK5 genes are found to be related to migraine. These findings provide new insights into the complex biology of migraine and its subtypes, offering potential for therapeutic interventions.
Article
Respiratory System
Elizabeth Benz, Lies Lahousse, Johnmary T. Arinze, Sara Wijnant, Maria de Ridder, Fernando Rivadeneira, Guy Brusselle, Bruno H. Stricker
Summary: This study aimed to investigate the association between the use of OCS and muscle strength and mass in older people, as well as its interaction with chronic airway diseases. The results showed that OCS use was associated with a decline in handgrip strength in people with COPD, and this association was dependent on the frequency and duration of OCS use.
