Article
Dentistry, Oral Surgery & Medicine
Cailing Jiang, Kang Yu, Yihan Shen, Feng Wang, Qinggang Dai, Yiqun Wu
Summary: The objective of this study was to investigate the associations between PAX9 mutations and clinical features of non-syndromic tooth agenesis patients. Through whole exome sequencing, mutations in PAX9 gene were identified in non-syndromic tooth agenesis patients, and conservation analysis and three-dimensional structure prediction were conducted to analyze the mutated proteins. The study found that PAX9 mutations were associated with non-syndromic tooth agenesis and caused functional impairments of the PAX9 protein.
CLINICAL ORAL INVESTIGATIONS
(2023)
Article
Dentistry, Oral Surgery & Medicine
Kai Sun, Miao Yu, Iting Yeh, Liutao Zhang, Haochen Liu, Tao Cai, Hailan Feng, Yang Liu, Dong Han
Summary: This study identified novel variants in the PAX9 gene and indicated that paired domain structural impairment and dominant-negative effect may be the underlying mechanisms of PAX9-related non-syndromic oligodontia.
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
Biochemistry & Molecular Biology
Tanmoy Sarkar, Prashant Ranjan, Smitha Kanathur, Ankush Gupta, Parimal Das
Summary: Congenital tooth agenesis (CTA) is a common craniofacial anomaly. This study identified a potential pathogenic variant associated with CTA in an Indian family, revealing the loss of function of PAX9.
MOLECULAR GENETICS AND GENOMICS
(2023)
Article
Biochemistry & Molecular Biology
Kamini Kaushal, Eun-Jung Kim, Apoorvi Tyagi, Janardhan Keshav Karapurkar, Saba Haq, Han-Sung Jung, Kye-Seong Kim, Suresh Ramakrishna
Summary: The deubiquitinating enzyme USP49 interacts with and stabilizes the protein levels of PAX9 and MSX1, promoting successful tooth development.
CELL DEATH AND DIFFERENTIATION
(2022)
Article
Biochemistry & Molecular Biology
Haochen Liu, Hangbo Liu, Lanxin Su, Jinglei Zheng, Hailan Feng, Yang Liu, Miao Yu, Dong Han
Summary: This study investigates and identifies PAX9 gene variants in Chinese families with non-syndromic tooth agenesis. Through sequencing and experiments, it identifies four novel heterozygous variants and studies their effects on function. Additionally, it analyzes the tooth missing positions caused by PAX9 variants and provides valuable information for genetic counseling.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Dentistry, Oral Surgery & Medicine
Narin Intarak, Karn Tongchairati, Kittipat Termteerapornpimol, Soranun Chantarangsu, Thantrira Porntaveetus
Summary: Mutations in PAX9 are the most common cause of tooth agenesis, and this study aimed to analyze their profiles and establish the genotype-phenotype correlation. The results showed that PAX9 mutations predominantly affected molars, especially the second molar, and the mandibular first premolar was the least affected. Null mutations resulted in more missing teeth than in-frame mutations, and there were more missing teeth in the maxilla than in the mandible. The location of in-frame mutations correlated with the number of missing teeth, with C-terminus mutations causing the fewest missing teeth. This study provides important information for genetic counseling in tooth agenesis.
JAPANESE DENTAL SCIENCE REVIEW
(2023)
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
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
Health Care Sciences & Services
Yejin Lee, Wonseon Chae, Youn Jung Kim, Jung-Wook Kim
Summary: Two novel LRP6 mutations were identified in non-syndromic oligodontia families, suggesting their potential role in tooth agenesis.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Multidisciplinary Sciences
J. Boutin, J. Rosier, D. Cappellen, F. Prat, J. Toutain, P. Pennamen, J. Bouron, C. Rooryck, J. P. Merlio, I. Lamrissi-Garcia, G. Cullot, S. Amintas, V. Guyonnet-Duperat, C. Ged, J. M. Blouin, E. Richard, S. Dabernat, F. Moreau-Gaudry, A. Bedel
Summary: The study reveals the genotoxicity caused by CRISPR-Cas9 leading to loss of heterozygosity changes, while also highlighting the potential safety concerns of this technology for gene therapy.
NATURE COMMUNICATIONS
(2021)
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
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
Genetics & Heredity
Kaoru Yoshinaga, Akihiro Yasue, Silvia Naomi Mitsui, Yoshiyuki Minegishi, Seiichi Oyadomari, Issei Imoto, Eiji Tanaka
Summary: WNT molecules regulate various biological functions, including body axis formation, organ development, and cell proliferation and differentiation. WNT10A and WNT10B, considered as genes of the same origin, have been identified as causative genes for tooth deficiency in humans. However, the disrupted mutant of each gene does not show a decrease in teeth number.
Article
Biology
Ploy Adisornkanj, Rajit Chanprasit, Steven Eliason, Juan M. Fons, Worrachet Intachai, Sissades Tongsima, Bjorn Olsen, Stefan T. Arold, Chumpol Ngamphiw, Brad A. Amendt, Abigail S. Tucker, Piranit Kantaputra
Summary: Study identified an extremely rare mutation in the PTPN23 gene that is associated with mesiodens. This mutation was found in seven family members with mesiodens and six family members without the condition. Further research showed that the PTPN23 mutation reduces phosphatase activity, leading to the formation of mesiodens.
Article
Dentistry, Oral Surgery & Medicine
Lin Tun Oo, Jun J. Miyamoto, Jun-Ichi Takada, Keiji Moriyama
Summary: Understanding the mechanism of mandibular asymmetry (MA) is important for providing suggestions for occlusal treatment and understanding the developmental process of masticatory dysfunction. This study investigated the morphological and functional effects on MA by evaluating the three-dimensional position of the glenoid fossa and its relationship to asymmetrical condylar translational movement. It was found that the functional asymmetry of condylar translational movements is closely related to the asymmetry of glenoid fossa position in MA patients.
EUROPEAN JOURNAL OF ORTHODONTICS
(2022)
Correction
Genetics & Heredity
Yumi Inagaki, Takuya Ogawa, Makoto J. Tabata, Yuki Nagata, Ryo Watanabe, Tatsuo Kawamoto, Keiji Moriyama, Toshihiro Tanaka
JOURNAL OF HUMAN GENETICS
(2022)
Article
Genetics & Heredity
Yuji Takahashi, Hidetoshi Date, Hideki Oi, Takeya Adachi, Noriaki Imanishi, En Kimura, Hotake Takizawa, Shinji Kosugi, Naomichi Matsumoto, Kenjiro Kosaki, Yoichi Matsubara, Hidehiro Mizusawa
Summary: The identification of causative genetic variants for hereditary diseases has revolutionized clinical medicine, and international cooperation has become a global trend in understanding rare disorders. In Japan, the Initiative on Rare and Undiagnosed Diseases (IRUD) aims to accurately diagnose, discover causes, and provide cures for rare and undiagnosed diseases. The IRUD system consists of diagnostic coordination, analysis centers, and a data center, and has successfully established a comprehensive diagnostic and research system covering all of Japan's geographic areas and clinical specialties. The IRUD has accurately diagnosed diseases, identified novel genes and disease entities, and enriched databases.
JOURNAL OF HUMAN GENETICS
(2022)
Article
Dentistry, Oral Surgery & Medicine
Natthaporn Pravitharangul, Jun J. Miyamoto, Hideyuki Yoshizawa, Tsutomu Matsumoto, Shoichi Suzuki, Pintu-on Chantarawaratit, Keiji Moriyama
Summary: This study evaluated differences in vowel production between skeletal Class III and Class I Japanese participants and found correlations between acoustic variables and cephalometric variables in skeletal Class III subjects.
EUROPEAN JOURNAL OF ORTHODONTICS
(2023)
Article
Dentistry, Oral Surgery & Medicine
Eric Shih-Wei Cheng, Michiko Tsuji, Shoichi Suzuki, Keiji Moriyama
Summary: This study provides an overview of the intraoral and craniofacial characteristics of growing and adult Japanese CCD subjects. The results show an increase in the number of supernumerary teeth with age and characteristic craniofacial morphologies such as an average anteriorly positioned maxilla, counter-clockwise rotation of the ramus, and a prognathic mandible. These findings are important for developing rational orthodontic treatment plans for CCD patients.
EUROPEAN JOURNAL OF ORTHODONTICS
(2022)
Article
Multidisciplinary Sciences
Nanase Igarashi, Kenichi Miyata, Tze Mun Loo, Masatomo Chiba, Aki Hanyu, Mika Nishio, Hiroko Kawasaki, Hao Zheng, Shinya Toyokuni, Shunsuke Kon, Keiji Moriyama, Yasuyuki Fujita, Akiko Takahashi
Summary: Cellular senescence inhibits the elimination of oncogenic cells through HGF signaling, suggesting its role in cancer development during aging.
NATURE COMMUNICATIONS
(2022)
Article
Physiology
Kyaw Min Soe, Takuya Ogawa, Keiji Moriyama
Summary: Mutations in BCOR may lead to hyperactive root formation in OFCD syndrome by regulating ZFPM2 expression via BCL6, providing insights into the mechanism controlling root length.
FRONTIERS IN PHYSIOLOGY
(2022)
Correction
Biochemistry & Molecular Biology
Sakurako Kano, Norihisa Higashihori, Phyo Thiha, Masaki Takechi, Sachiko Iseki, Keiji Moriyama
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2022)
Article
Genetics & Heredity
Shizuka Kirino, Mitsuyoshi Suzuki, Takuya Ogawa, Kei Takasawa, Eriko Adachi, Maki Gau, Ken Takahashi, Mitsuru Ikeno, Mamiko Yamada, Hisato Suzuki, Kenjiro Kosaki, Keiji Moriyama, Masayuki Yoshida, Tomohiro Morio, Kenichi Kashimada
Summary: This is a case report of liver dysfunction caused by AMOTL1 gene mutation. Although liver dysfunction is not a known clinical feature of AMOTL1 malfunction, considering the involvement of AMOTL1 in angiogenesis, it is possible that abnormalities in this process may lead to liver dysfunction.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2022)
Article
Environmental Sciences
Aina Okawara, Yusuke Matsuyama, Miyu Yoshizawa Araki, Yuko Unnai Yasuda, Takuya Ogawa, Tsasan Tumurkhuu, Ganjargal Ganburged, Amarsaikhan Bazar, Takeo Fujiwara, Keiji Moriyama
Summary: This study investigated the relationship between child abuse and oral habits among adolescents in Mongolia. The results showed that biting nails/lips/pens was significantly associated with physical abuse but not with psychological abuse, while bruxism was not associated with either type of abuse.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2022)
Article
Dentistry, Oral Surgery & Medicine
Lin Tun Oo, Jun J. J. Miyamoto, Jun-Ichi Takada, Shih-Wei Eric Cheng, Hideyuki Yoshizawa, Keiji Moriyama
Summary: This study evaluated the three-dimensional morphology of the temporomandibular joint (TMJ) and its relationship with asymmetrical condylar movement in patients with mandibular asymmetry (MA). The results showed significant morphological asymmetry of the TMJ in the shifted side of the MA group, which was closely related to the functional asymmetry of condylar movement.
PROGRESS IN ORTHODONTICS
(2022)
Article
Dentistry, Oral Surgery & Medicine
Phanchanit Jindarojanakul, Yukiho Kobayashi, Hiroyuki Kamimoto, Yuki Niki, Aye Chan Myo, Sirichom Satrawaha, Keiji Moriyama
Summary: This study investigated the expression and function of SOD3 during orthodontic tooth movement (OTM) and in hypoxia-exposed periodontal ligament (PDL) cells. The results showed that SOD3 expression decreased during OTM and hypoxia, while hypoxia increased ROS production and osteoclast formation. Treatment with SOD3 attenuated the negative effects of hypoxia on PDL cells.
EUROPEAN JOURNAL OF ORTHODONTICS
(2023)
Article
Chemistry, Analytical
Hidekazu Matsumoto, Keisuke Tomoto, Gentaro Kawase, Kenta Iitani, Koji Toma, Takahiro Arakawa, Kohji Mitsubayashi, Keiji Moriyama
Summary: This study developed a small wireless mouthguard device for measuring the pressure of oral soft tissues on teeth. The device showed high sensitivity and a strong correlation with wired devices. It successfully measured tongue pressure during swallowing and can contribute to assessing tongue thrusting habits.
Article
Dentistry, Oral Surgery & Medicine
Panida Methawit, Masayoshi Uezono, Takeshi Ogasawara, Paiboon Techalertpaisarn, Keiji Moriyama
Summary: This study aimed to investigate the effects of orthodontic miniscrew pitch and thread shape on microdamage in cortical bone, as well as the relationship between microdamage and primary stability. It was found that a wider thread pitch can reduce microdamage, while a narrower pitch may lead to bone compression and extensive microdamage.
JOURNAL OF THE WORLD FEDERATION OF ORTHODONTISTS
(2023)
Article
Dentistry, Oral Surgery & Medicine
Alkherainej Faisal, Hideyuki Yoshizawa, Tsutomu Matsumoto, Jun J. Miyamoto, Keiji Moriyama
Summary: This study compared perioral soft tissue movements in patients with skeletal Class III malocclusion with and without mandibular asymmetry during sound articulation. The results showed that patients with mandibular asymmetry displayed more asymmetric perioral soft tissue movements during bilabial sound production.
CLINICAL AND INVESTIGATIVE ORTHODONTICS
(2023)