Article
Biochemistry & Molecular Biology
Hiroki Yoshioka, Yin-Ying Wang, Akiko Suzuki, Meysam Shayegh, Mona V. Gajera, Zhongming Zhao, Junichi Iwata
Summary: Amelogenesis imperfecta is a congenital form of enamel hypoplasia, and miRNAs, specifically miR-1306-5p, miR-3195, and miR-3914, have been identified as potential regulators of genes associated with the condition. Advanced bioinformatic analyses revealed potential roles for miRNAs in amelogenesis imperfecta.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Akiko Suzuki, Hiroki Yoshioka, Teng Liu, Aania Gull, Naina Singh, Thanh Le, Zhongming Zhao, Junichi Iwata
Summary: This study reveals the regulatory network of genes and microRNAs (miRNAs) related to amelogenesis imperfecta. miR-16-5p and miR-27b-3p were identified as potential pathogenic miRNAs, as they significantly inhibited ameloblast differentiation by regulating mAIGenes.
FRONTIERS IN GENETICS
(2022)
Article
Dentistry, Oral Surgery & Medicine
M. Kiel, S. Wuebker, M. T. Remy, K. A. Riemondy, F. Smith, C. M. Carey, T. Williams, E. Van Otterloo
Summary: Coordinated mineralization of soft tissue is vital for organismal form and function, and dysregulated mineralization can lead to various human pathologies. In this study, the role of MEMO1 in enamel mineralization was investigated. It was found that MEMO1 is critical for enamel development, as its deletion in ameloblasts resulted in enamel defects and a disruption in ameloblast morphology. Molecular profiling further revealed that cytoskeletal-associated genes were affected in Memo1 mutants. These findings provide valuable insights into the mechanisms of ameloblast development and can contribute to understanding enamel-related disorders.
JOURNAL OF DENTAL RESEARCH
(2023)
Article
Biochemical Research Methods
Hao Liu, Zhouyi Guo, Luoqi Mo, Yan Sun, JuanJuan Zhang, Xiaoying Liu, Zhiming Liu
Summary: The study reveals the close association between MSX2 and amelogenesis imperfecta, demonstrating the structural and compositional abnormalities in Msx2(-/-) enamel through optical coherence tomography and Raman spectroscopy techniques, providing a deeper understanding of the mechanism of abnormal enamel formation related to MSX2.
JOURNAL OF BIOPHOTONICS
(2021)
Review
Endocrinology & Metabolism
Veronica Costiniti, Guilherme H. Bomfim, Erna Mitaishvili, Ga-Yeon Son, Yi Li, Rodrigo S. Lacruz
Summary: Most cells use calcium as a second messenger to convey signals affecting biological processes, with its ability to bind to proteins being essential for its signaling role. Cells maintain low cytosolic calcium concentration to sense and transmit elevations in calcium, which must be transient to prevent harmful effects. Cells have developed various systems to clear excess calcium, including pumps, exchangers, and intracellular sequestration, ensuring optimal biological function.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Physiology
Agnes Bloch-Zupan, Tristan Rey, Alexandra Jimenez-Armijo, Marzena Kawczynski, Naji Kharouf, Muriel de La Dure-Molla, Emmanuelle Noirrit, Magali Hernandez, Clara Joseph-Beaudin, Serena Lopez, Corinne Tardieu, Beatrice Thivichon-Prince, Tatjana Dostalova, Milan Macek Jr, Mustapha El Alloussi, Leila Qebibo, Supawich Morkmued, Patimaporn Pungchanchaikul, Blanca Urzua Orellana, Marie-Cecile Maniere, Benedicte Gerard, Isaac Maximiliano Bugueno, Virginie Laugel-Haushalter
Summary: In this study, next-generation sequencing was used to analyze a cohort of Amelogenesis imperfecta (AI) patients, revealing more than 70 genes associated with AI. The findings showed that 73% of the cases were non-syndromic AI and 27% were syndromic AI. The genetic diagnosis provided important insights for the diagnosis and treatment of AI. This study demonstrated the potential of next-generation sequencing in AI research and provided new insights into the classification and treatment of AI.
FRONTIERS IN PHYSIOLOGY
(2023)
Article
Dentistry, Oral Surgery & Medicine
C. Iwaya, A. Suzuki, J. Shim, C. G. Ambrose, J. Iwata
Summary: Tooth enamel is generated by ameloblasts. Failure in amelogenesis leads to enamel defects known as amelogenesis imperfecta. This study showed that mice with deficient autophagy in epithelial-derived tissues exhibited amelogenesis imperfecta, with reduced enamel density and thickness. Autophagy plays a crucial role in ameloblast differentiation and its failure results in amelogenesis imperfecta through ectopic NRF2 activation.
JOURNAL OF DENTAL RESEARCH
(2023)
Article
Pediatrics
Manami Tadano, Aya Yamada, Yuriko Maruya, Ryoko Hino, Tomoaki Nakamura, Seira Hoshikawa, Satoshi Fukumoto, Kan Saito
Summary: The novel hypersensitivity inhibitor, Bio Coat Ca, has shown promising results in improving hypomineralization and hypersensitivity of teeth, with visible effects after several applications.
Article
Physiology
Alban Desoutter, Olivier Cases, Pierre Yves Collart Dutilleul, Victor Simancas Escorcia, Vidjea Cannaya, Frederic Cuisinier, Renata Kozyraki
Summary: This study provides a structural and chemical analysis of enamel, dentin, and DEJ in ERS patients, revealing severe enamel formation compromise and dentinal defects as additional features of the ERS dental phenotype.
FRONTIERS IN PHYSIOLOGY
(2022)
Article
Genetics & Heredity
Georgios Nikolopoulos, Claire E. L. Smith, James A. Poulter, Gina Murillo, Sandra Silva, Teresa Lamb, Ian R. Berry, Catriona J. Brown, Peter F. Day, Francesca Soldani, Suhaila Al-Bahlani, Sarah A. Harris, Mary J. O'Connell, Chris F. Inglehearn, Alan J. Mighell
Summary: This study elucidates the mutation spectrum of the MMP20 gene and its impact on protein function, confirming a consistent hypomaturation phenotype and demonstrating that mutations in MMP20 are a common cause of autosomal recessive AI in certain communities.
Article
Dentistry, Oral Surgery & Medicine
Li Tan, Yue Guo, Meng-Mei Zhong, Ya-Qiong Zhao, Jie Zhao, Dusenge Marie Aimee, Yao Feng, Qin Ye, Jing Hu, Ze-Yue Ou-Yang, Ning-xin Chen, Xiao-Lin Su, Qian Zhang, Qiong Liu, Hui Yuan, Min-Yuan Wang, Yun-Zhi Feng, Feng-Yi Zhang
Summary: This study expands the understanding of the effects of FAM83H mutations on tooth structure.
CLINICAL ORAL INVESTIGATIONS
(2023)
Article
Anatomy & Morphology
Yikang Ji, Cong Li, Yuan Tian, Yan Gao, Zhiheng Dong, Lili Xiang, Zhenzhen Xu, Yuguang Gao, Li Zhang
Summary: ODAPH plays a crucial role in amelogenesis by maintaining the integrity of the atypical basal lamina during the maturation stage, affecting enamel formation. Odaph knockout mice exhibit severe attrition and reduced enamel mineralization, with abnormal changes in maturation ameloblasts.
DEVELOPMENTAL DYNAMICS
(2021)
Article
Health Care Sciences & Services
Andrea Martin-Vacas, Manuel Joaquin de Nova, Belen Sagastizabal, Alvaro Enrique Garcia-Barbero, Vicente Vera-Gonzalez
Summary: This study explores the morphological characteristics of dentinogenesis imperfecta type I (DGI-I) using scanning electron microscopy (SEM) and reveals a relationship between dentin structural anomalies and the severity of osteogenesis imperfecta (OI). The findings suggest that dentin structural alterations and clinical dental changes are more frequently observed in individuals with a severe phenotype of OI.
Article
Genetics & Heredity
Youn Jung Kim, Yejin Lee, Hong Zhang, Ji-Soo Song, Jan C. -C. Hu, James P. Simmer, Jung-Wook Kim
Summary: A novel de novo missense mutation in the SP6 gene was identified, causing amelogenesis imperfecta. This mutation, located at the same nucleotide positions as a previous report but with a different insertion, resulted in a much more severe clinical phenotype. The mutant protein level was significantly decreased compared to the wild-type, despite similar mRNA levels.
Article
Pediatrics
Priyanka Khandelwal, V Mahesh, Vijay Prakash Mathur, Sumantra Raut, Thenral S. Geetha, Sandhya Nair, Pankaj Hari, Aditi Sinha, Arvind Bagga
Summary: In patients with mutations in WDR72, there is a mild form of rate-dependent distal RTA with varying levels of metabolic acidosis. These patients are able to acidify urine during provocative testing, but may also have concurrent proximal tubular dysfunction. Mutations in WDR72 should be considered in cases of suspected distal RTA, particularly if dental defects are present.
PEDIATRIC NEPHROLOGY
(2021)
Article
Dentistry, Oral Surgery & Medicine
S. K. Wang, H. Zhang, C. Y. Hu, J. F. Liu, S. Chadha, J. W. Kim, J. P. Simmer, J. C. C. Hu
Summary: ADHCAI is a genetic disorder affecting dental enamel hardness, caused by truncation mutations in the FAM83H gene. This study characterized 9 families with ADHCAI and identified 3 novel FAM83H mutations, extending the understanding of the associated phenotypes and genotypes.
JOURNAL OF DENTAL RESEARCH
(2021)
Article
Dentistry, Oral Surgery & Medicine
J. T. Chen, C. H. Lin, H. W. Huang, Y. P. Wang, P. C. Kao, T. P. Yang, S. K. Wang
Summary: Hereditary gingival fibromatosis is a rare genetic disorder that often requires multiple surgical procedures and significantly impacts quality of life for patients. Recent studies have identified REST gene mutations as potential causes of the disease.
JOURNAL OF DENTAL RESEARCH
(2021)
Article
Dentistry, Oral Surgery & Medicine
Y. J. Kim, Y. Lee, Y. Kasimoglu, F. Seymen, J. P. Simmer, J. C-C Hu, E-S Cho, J-W Kim
Summary: Amelogenesis imperfecta (AI) is a genetic disorder affecting the formation and mineralization of tooth enamel, with several genes involved including ACP4. Study of two families with hypoplastic AI revealed biallelic mutations in ACP4, resulting in decreased protein expression, homodimer formation, and acid phosphatase activity in the mutants. This expands the mutational spectrum of ACP4 and enhances understanding of its function in normal and pathological amelogenesis.
JOURNAL OF DENTAL RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
James P. Simmer, Jan C-C Hu, Yuanyuan Hu, Shelly Zhang, Tian Liang, Shih-Kai Wang, Jung-Wook Kim, Yasuo Yamakoshi, Yong-Hee Chun, John D. Bartlett, Charles E. Smith
Summary: This review focuses on the roles of 41 essential genes during the secretory stage of amelogenesis, proposing a molecular model for how enamel mineral ribbons attach and elongate, guiding future research on enamel formation.
JOURNAL OF STRUCTURAL BIOLOGY
(2021)
Article
Health Care Sciences & Services
Yejin Lee, Hong Zhang, Figen Seymen, Youn Jung Kim, Yelda Kasimoglu, Mine Koruyucu, James P. Simmer, Jan C. -C. Hu, Jung-Wook Kim
Summary: In this study, two novel mutations in the KLK4 gene were identified in four Turkish families with hypomaturation amelogenesis imperfecta. Functional analysis revealed that these mutations resulted in the production of either an inefficient or unstable protein. This study enhances our understanding of the normal and pathological mechanisms of enamel formation.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Health Care Sciences & Services
Figen Seymen, Hong Zhang, Yelda Kasimoglu, Mine Koruyucu, James P. Simmer, Jan C. -C. Hu, Jung-Wook Kim
Summary: This study reported the findings of three families affected by amelogenesis imperfecta, identifying three novel gene mutations. The discovered mutations expand the mutational spectrum of AI-causing genes and improve our understanding of the normal and pathological amelogenesis process.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Genetics & Heredity
James P. Simmer, Hong Zhang, Sophie J. H. Moon, Lori A-J Donnelly, Yuan-Ling Lee, Figen Seymen, Mine Koruyucu, Hui-Chen Chan, Kevin Y. Lee, Suwei Wu, Chia-Lan Hsiang, Anthony T. P. Tsai, Rebecca L. Slayton, Melissa Morrow, Shih-Kai Wang, Edward D. Shields, Jan C-C Hu
Summary: Mutations in the DSPP gene can cause different types of dentin disorders, and this study identified disease-causing mutations and proposed a revised classification system based on the type of mutation rather than the severity of the phenotype. The study also revealed distinct cellular pathology differences between different DSPP mutations.
Article
Health Care Sciences & Services
Youn Jung Kim, Yejin Lee, Hong Zhang, Figen Seymen, Mine Koruyucu, Sule Bayrak, Nuray Tuloglu, James P. Simmer, Jan C-C Hu, Jung-Wook Kim
Summary: This study identified three novel mutations associated with hereditary dentin defects and expanded the mutational spectrum of the DSPP gene. The study also found that the expression level of the DSPP exon 3 deletion transcript correlated with the severity of dentin defects, advancing our understanding of the molecular pathogenesis of this condition.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Dentistry, Oral Surgery & Medicine
Shih-Kai Wang, Hong Zhang, Yin-Lin Wang, Figen Seymen, Mine Koruyucu, James P. Simmer, Jan C-C Hu
Summary: This study identified LAMA3 and MMP20 mutations as the genetic causes of amelogenesis imperfecta, and showed the critical role of these mutations in enamel formation and maturation.
Article
Multidisciplinary Sciences
Tian Liang, Shih-Kai Wang, Charles Smith, Hong Zhang, Yuanyuan Hu, Figen Seymen, Mine Koruyucu, Yelda Kasimoglu, Jung-Wook Kim, Chuhua Zhang, Thomas L. Saunders, James P. Simmer, Jan C. -C. Hu
Summary: This study identified a novel ACP4 disease-causing mutation and revealed the crucial role of ACP4 in dental enamel formation through the use of a mouse model.
SCIENTIFIC REPORTS
(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
Shih-Kai Wang, Hong Zhang, Yin-Lin Wang, Hung-Ying Lin, Figen Seymen, Mine Koruyucu, J. Timothy Wright, Jung-Wook Kim, James P. Simmer, Jan C. -C. Hu
Summary: This study identified disease-causing mutations in FAM20A and revealed that upregulation of BMP signaling underlies intrapulpal calcifications in ERS.
INTERNATIONAL ENDODONTIC JOURNAL
(2023)
Article
Dentistry, Oral Surgery & Medicine
Feng-Chou Cheng, Guay-Fen Huang, Yin-Lin Wang, Hsiao-Hua Chang, Shih-Kai Wang, Ming-Kuang Guo, Chun-Pin Chiang
Summary: The integration of pediatric education into pediatric dentistry courses was found to be beneficial in improving dental students' knowledge, clinical skills, and attitudes towards pediatric dentistry. Further research is needed to explore the effectiveness of this integrated approach in dental education.
JOURNAL OF DENTAL SCIENCES
(2023)
Article
Health Care Sciences & Services
Youn Jung Kim, Hong Zhang, Yejin Lee, Figen Seymen, Mine Koruyucu, Yelda Kasimoglu, James P. Simmer, Jan C. -C. Hu, Jung-Wook Kim
Summary: Amelogenesis imperfecta (AI) is a genetic condition characterized by various enamel defects. This study used whole exome sequencing to identify genetic mutations causing hypomaturation AI in affected families. Mutational analysis revealed WDR72 mutations as the genetic cause in four families, including novel mutations and a recurrent mutation. These findings expand our knowledge of WDR72 mutations causing hypomaturation AI and improve the accuracy of genetic testing for diagnosing AI caused by WDR72 defects.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Anatomy & Morphology
Charles E. Smith, Yuanyuan Hu, Mike Strauss, Jan C-C Hu, James P. Simmer
Summary: The study revealed that the distribution of focal stacks in the inner enamel of mandibular mouse incisors is not random, but rather dependent on the regional location within the transverse plane of the enamel layer. The uneven distribution of focal stacks in different regions within the inner enamel indicates a certain level of regularity and structure in their arrangement.
JOURNAL OF ANATOMY
(2021)