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
Physiology
Tian Liang, Qian Xu, Hua Zhang, Suzhen Wang, Thomas G. H. Diekwisch, Chunlin Qin, Yongbo Lu
Summary: The mutant P19L-DSPP protein caused developmental enamel defects in mice, potentially linked to intracellular retention of mutant DSPP in presecretory ameloblasts.
FRONTIERS IN PHYSIOLOGY
(2021)
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
Biochemistry & Molecular Biology
Kristof Kadar, Viktoria Juhasz, Anna Foldes, Robert Racz, Yan Zhang, Heike Lochli, Erzsebet Kato, Laszlo Koles, Martin C. Steward, Pamela DenBesten, Gabor Varga, Akos Zsembery
Summary: TRPM7 channels are crucial for cellular Ca2+, Zn2+, and Mg2+ homeostasis, particularly in the mineralization of dental enamel. They act as potential modulators of Orai-dependent Ca2+ uptake and pH-sensitive independent Ca2+ entry pathways during amelogenesis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Crystallography
Yu Yuan Zhang, Quan Li Li, Hai Ming Wong
Summary: The unique structure of native enamel gives it exquisite appearance and toughening properties, but damage to enamel is irreversible. Current clinical treatment for enamel lesions is invasive and has limitations, while biomimetic mineralization techniques offer promise for non-invasive enamel restoration.
Review
Dentistry, Oral Surgery & Medicine
Nicolas Pescetto, Alberto Cespedes, Ronell Bologna Molina, Vanesa Pereira Prado
Summary: Amelogenesis imperfecta is a genetic disorder affecting tooth enamel structure and clinical appearance, with mutations in 18 genes implicated in non-syndromic AI. Specific mutations in ENAM, AMBN, FAM83H, MMP20, and KLK4 genes have been associated with different types of AI, highlighting the need for further research to understand the underlying biological mechanisms.
ODONTOESTOMATOLOGIA
(2021)
Review
Dentistry, Oral Surgery & Medicine
Nicolas Pescetto, Alberto Cespedes, Ronell Bologna Molina, Vanesa Pereira Prado
Summary: Amelogenesis imperfecta (AI) is a genetic disorder caused by mutations in 18 genes, affecting the structure and clinical appearance of tooth enamel. Enamel alterations vary depending on the gene involved, indicating the complexity of the disease.
ODONTOESTOMATOLOGIA
(2021)
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
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
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
Dentistry, Oral Surgery & Medicine
R. Shemirani, M. H. Le, Y. Nakano
Summary: Amelogenin is crucial for tooth enamel formation, and mutations in its gene can lead to X-linked amelogenesis imperfecta (AI). Alternative splicing of Amelogenin pre-mRNA produces miR-exon4, which is involved in enamel and bone formation. This study investigated the association between mutations in exon4 and exon5 of X-chromosomal amelogenin, exon4 splicing, and miR-exon4 production. The results showed that mutations in exon4 and exon5 significantly affected exon4 splicing and subsequent miR-exon4 production. SRSF2 and SRSF5 were identified as regulatory factors for exon4 and exon5 splicing, respectively.
JOURNAL OF DENTAL RESEARCH
(2023)
Article
Dentistry, Oral Surgery & Medicine
L. Fan, Y. J. Ou, Y. X. Zhu, Y. D. Liang, Y. Zhou, Y. N. Wang
Summary: The study revealed the crucial role of LIF in tooth development, showing that Lif deficiency in mice resulted in whitened incisors, shorter length, decreased enamel surface hardness and acid resistance. Furthermore, Lif deficiency affected iron transportation in maturation-stage ameloblasts. The results indicated that Lif modulated the expression of iron-related proteins in enamel development through the Stat3 signaling pathway.
JOURNAL OF DENTAL RESEARCH
(2022)
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)
Review
Biochemistry & Molecular Biology
Ines A. Revelo-Mejia, Arturo Hardisson, Carmen Rubio, Angel J. Gutierrez, Soraya Paz
Summary: Fluoride is not the only factor responsible for enamel mottling, with other endogenous and exogenous factors also potentially causing such defects. More precise definition and diagnosis of dental fluorosis, along with a more discriminating diagnostic procedure, are necessary to ensure rational use and control of fluorides for dental health. Positive identification of environmental fluoride levels is crucial before confirming a diagnosis of fluorosis.
BIOLOGICAL TRACE ELEMENT RESEARCH
(2021)
Review
Endocrinology & Metabolism
Mohammad Q. Hassan, Coralee E. Tye, Gary S. Stein, Jane B. Lian
Article
Biochemistry & Molecular Biology
Maiko Suzuki, Cheryl Bandoski, John D. Bartlett
FREE RADICAL BIOLOGY AND MEDICINE
(2015)
Article
Dentistry, Oral Surgery & Medicine
J. D. Bartlett, J. P. Simmer
JOURNAL OF DENTAL RESEARCH
(2015)
Article
Genetics & Heredity
Yuanyuan Hu, Charles E. Smith, Amelia S. Richardson, John D. Bartlett, Jan C. C. Hu, James P. Simmer
MOLECULAR GENETICS & GENOMIC MEDICINE
(2016)
Letter
Cell Biology
Gary S. Stein, Terri L. Messier, Jonathan A. R. Gordon, Joseph R. Boyd, Coralee E. Tye, Jane B. Lian, Janet L. Stein
Article
Dentistry, Oral Surgery & Medicine
D. Faibish, M. Suzuki, J. D. Bartlett
ARCHIVES OF ORAL BIOLOGY
(2016)
Meeting Abstract
Oncology
Nicholas H. Farina, Cody J. Callahan, Coralee E. Tye, Joseph R. Boyd, Gary S. Stein, Janet L. Stein, Jane B. Lian
Article
Dentistry, Oral Surgery & Medicine
Xiaomu Guan, Mingang Xu, Sarah E. Millar, John D. Bartlett
EUROPEAN JOURNAL OF ORAL SCIENCES
(2016)
Article
Oncology
Terri L. Messier, Jonathan A. R. Gordon, Joseph R. Boyd, Coralee E. Tye, Gillian Browne, Janet L. Stein, Jane B. Lian, Gary S. Stein
Article
Cell Biology
Andrew J. Fritz, Prachi N. Ghule, Joseph R. Boyd, Coralee E. Tye, Natalie A. Page, Deli Hong, David J. Shirley, Adam S. Weinheimer, Ahmet R. Barutcu, Diana L. Gerrard, Seth Frietze, Andre J. van Wijnen, Sayyed K. Zaidi, Anthony N. Imbalzano, Jane B. Lian, Janet L. Stein, Gary S. Stein
JOURNAL OF CELLULAR PHYSIOLOGY
(2018)
Article
Cell Biology
Kirsten M. Tracy, Coralee E. Tye, Natalie A. Page, Andrew J. Fritz, Janet L. Stein, Jane B. Lian, Gary S. Stein
JOURNAL OF CELLULAR PHYSIOLOGY
(2018)
Article
Cell Biology
Coralee E. Tye, Joseph R. Boyd, Natalie A. Page, Michelle M. Falcone, Janet L. Stein, Gary S. Stein, Jane B. Lian
CONNECTIVE TISSUE RESEARCH
(2018)
Article
Multidisciplinary Sciences
Masashi Shin, Maiko Suzuki, Xiaomu Guan, Charles E. Smith, John D. Bartlett
SCIENTIFIC REPORTS
(2016)
Article
Biochemistry & Molecular Biology
Gileade P. Freitas, Helena B. Lopes, Alann T. P. Souza, Maria Paula O. Gomes, Georgia K. Quiles, Jonathan Gordon, Coralee Tye, Janet L. Stein, Gary S. Stein, Jane B. Lian, Marcio M. Beloti, Adalberto L. Rosa
Summary: The study genetically edited MSCs to overexpress BMP-9 using CRISPR-Cas9 technique, which enhanced the osteogenic potential of MSCs and promoted bone formation in rat calvaria defects. This research provides novel options for utilizing genetically edited cells to repair bone defects effectively.
Article
Oncology
Deli Hong, Terri L. Messier, Coralee E. Tye, Jason R. Dobson, Andrew J. Fritz, Kenneth R. Sikora, Gillian Browne, Janet L. Stein, Jane B. Lian, Gary S. Stein