Review
Dentistry, Oral Surgery & Medicine
Tongyu Su, Yulong Zhu, Xiangpu Wang, Qinglin Zhu, Xiaohong Duan
Summary: This review aimed to summarize recent progress on syndromic dentin defects, promoting a better understanding of systemic diseases with dentin malformations, the molecules involved, and related mechanisms. Over 10 systemic diseases, mainly bone disorders, were examined, and their pathogenic genes may regulate both dentin and bone development, involving extracellular matrix, cell differentiation, and metabolism of calcium, phosphorus, and vitamin D. Some specific dentin defects associated with systemic diseases may serve as important phenotypes for dentists to diagnose, and mechanistic studies on syndromic dentin defects may provide valuable insights into isolated dentin defects and general dentin development or mineralization.
Article
Multidisciplinary Sciences
Tian Liang, Charles E. Smith, Yuanyuan Hu, Hong Zhang, Chuhua Zhang, Qian Xu, Yongbo Lu, Ling Qi, Jan C. -C. Hu, James P. Simmer
Summary: Mutations in the DSPP gene cause dental diseases characterized by abnormal dentin and enamel. Mouse models with Dspp(P19L) and Dspp(-1fs) mutations can be useful for studying the pathological mechanisms of these two mutation types.
SCIENTIFIC REPORTS
(2023)
Article
Chemistry, Multidisciplinary
Andrea Martin-Vacas, Vicente Vera-Gonzalez, Julio Ramirez-Castellanos, Diego Gonzalez-Gil, Manuel Joaquin de Nova Garcia
Summary: The aim of this study was to analyze the diameter and tubular density, as well as the elemental composition (Calcium and Phosphorus), in the dentin of primary teeth of children with Osteogenesis Imperfecta (OI), compared to a control group. The results showed that the alterations in dentinal tubules were more pronounced in severe cases of systemic disease, and the amount of Phosphorus in the dentin of primary teeth was lower in children with OI.
APPLIED SCIENCES-BASEL
(2023)
Article
Engineering, Biomedical
Jiajie Mao, Lin Wang, Yun Jiang, Haoran Cheng, Ning Li, Shi Shi, Fan Fan, Jianfeng Ma, Shengbin Huang
Summary: The wear behavior of Dentinogenesis imperfecta type II (DGIII) dentin was significantly deteriorated, with disorder in microstructures and reduction of chemical composition contributing to the inferior wear resistance. This study revealed a close correlation between dentin components and wear resistance, indicating a potential cause for the deterioration in wear behavior.
JOURNAL OF THE MECHANICAL BEHAVIOR OF BIOMEDICAL MATERIALS
(2021)
Article
Endocrinology & Metabolism
Doaa Taqi, Hanan Moussa, Timothy Schwinghamer, Maxime Ducret, Didem Dagdeviren, Jean-Marc Retrouvey, Frank Rauch, Faleh Tamimi
Summary: The study found that dental anomalies in Osteogenesis imperfecta patients vary with different genetic variants and patient age, with genetic variants being better predictors of dental phenotype. Tooth discoloration may be related to enamel thickness, while pulp obliteration is associated with patient age and malocclusion, and taurodontism is possibly linked to delayed pulpal maturation.
Article
Oncology
Qin Du, Li Cao, Yi Liu, Chunyan Pang, Si Wu, Liwei Zheng, Wei Jiang, Xiaoxue Na, Jing Yu, Shasha Wang, Xianjun Zhu, Jiyun Yang
Summary: A novel DSPP mutation was identified in a DGI-II family, leading to reduced and irregular dentinal tubes in the patients' teeth. The mutant DSP was trapped in the endoplasmic reticulum, affecting mineralization ability and expression levels of DSPP and RUNX2 in comparison with normal cells.
ANNALS OF TRANSLATIONAL MEDICINE
(2021)
Review
Veterinary Sciences
Jessica Mack Wilson, Cynthia Bell, Katherine Queck, Kristin Scott
Summary: This review describes the clinical, radiographic and histologic characteristics of dentinogenesis imperfecta in two unrelated young dogs. The dogs showed generalized coronal discoloration, clinical pulp exposure, coronal wear and fractures, thin dentin walls or dystrophic obliteration of the pulp canal, and histologically abnormal odontoblasts. The primary dentin disorders are extensively studied in humans but rarely reported in dogs.
JOURNAL OF VETERINARY DENTISTRY
(2022)
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
Endocrinology & Metabolism
Juliana Marulanda, Karissa Ludwig, Francis Glorieux, Brendan Lee, V. Reid Sutton, Jean-Marc Retrouvey, Frank Rauch
Summary: This study describes the craniofacial and dental symptoms in two girls with CRTAP mutations. The severity of the craniofacial phenotype in these patients mirrors the severity of the skeletal phenotype, with both exhibiting class III malocclusion and antero-posterior crossbite.
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
Biochemistry & Molecular Biology
Giulia Brunello, Federica Zanotti, Gerard Scortecci, Lari Sapoznikov, Stefano Sivolella, Barbara Zavan
Summary: The aim of this in vitro study was to investigate the commitment and behavior of dental pulp stem cells (DPSCs) seeded onto two different grafting materials, human dentin particulate (DP) and deproteinized bovine bone matrix (BG), with those cultured in the absence of supplements. The results showed that the DPSCs can achieve dentin and bone regeneration on specific grafting materials and can be induced to differentiate into odontoblast-like and osteoblast-like cells.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Anatomy & Morphology
Tang Li, Li Yongfeng, Li Ruiqi, Zhang Mingyue, Huang Xiaofeng
Summary: This study investigates the maturation process and ultrastructural details of pseudoosteodentine formation in the teeth of Trichiurus lepturus. Different imaging and staining techniques were used to analyze the microstructure and development of dentin. The study observed the development and localization of odontoblasts during odontogenesis in T. lepturus and found that pseudoosteodentine, orthodentine, and osteodentine have similar tubule-like structures. The findings provide a deeper understanding of tooth development and biomineralization processes.
Article
Dentistry, Oral Surgery & Medicine
Qin Du, Li Cao, Nana Yan, Sujun Kang, Mu Lin, Peilin Cao, Ran Jia, Chenyang Wang, Hanyu Qi, Yue Yu, Jing Zou, Jiyun Yang
Summary: This study investigated the genetic causes and teeth characteristics of dentin dysplasia Shields type II(DD-II) in three Chinese families. Whole-exome sequencing (WES) and whole-genome sequencing (WGS) were used to identify variations, and Sanger sequencing was conducted to verify mutation sites. A frameshift deletion mutation in DSPP gene was found in two families, while no pathogenic mutation was found in one family. The affected teeth showed abnormal tooth structure, reduced hardness, and irregular dentinal tubules, along with altered mineral content. This study expands the understanding of the genetic basis and phenotypic characteristics of DD-II.
CLINICAL ORAL INVESTIGATIONS
(2023)
Article
Chemistry, Multidisciplinary
Antonio Libonati, Virginia Di Taranto, Lucia Meme, Gianni Gallusi, Vincenzo Campanella
Summary: This study investigated the effectiveness of two universal adhesives on both sound and dentinogenesis imperfecta type II (DI-II)-affected teeth. The results showed that both universal adhesives were effective in creating a strong bond on both normal and pathological dental substrates.
APPLIED SCIENCES-BASEL
(2022)
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
Dentistry, Oral Surgery & Medicine
Youn Jung Kim, Figen Seymen, Jenny Kang, Mine Koruyucu, Nuray Tuloglu, Sule Bayrak, Elif Bahar Tuna, Zang Hee Lee, Teo Jeon Shin, Hong-Keun Hyun, Young-Jae Kim, Sang-Hoon Lee, Jan Hu, James Simmer, Jung-Wook Kim
CLINICAL ORAL INVESTIGATIONS
(2019)
Article
Genetics & Heredity
Bobby G. Ng, Paulina Sosicka, Satish Agadi, Mohammed Almannai, Carlos A. Bacino, Rita Barone, Lorenzo D. Botto, Jennifer E. Burton, Colleen Carlston, Brian Hon-Yin Chung, Julie S. Cohen, David Coman, Katrina M. Dipple, Naghmeh Dorrani, William B. Dobyns, Abdallah F. Elias, Leon Epstein, William A. Gahl, Domenico Garozzo, Trine Bjorg Hammer, Jaclyn Haven, Delphine Heron, Matthew Herzog, George E. Hoganson, Jesse M. Hunter, Mahim Jain, Jane Juusola, Shenela Lakhani, Hane Lee, Joy Lee, Katherine Lewis, Nicola Longo, Charles Marques Lourenco, Christopher C. Y. Mak, Dianalee McKnight, Bryce A. Mendelsohn, Cyril Mignot, Ghayda Mirzaa, Wendy Mitchell, Hiltrud Muhle, Stanley F. Nelson, Mariusz Olczak, Christina G. S. Palmer, Arthur Partikian, Marc C. Patterson, Tyler M. Pierson, Shane C. Quinonez, Brigid M. Regan, M. Elizabeth Ross, Maria J. Guillen Sacoto, Fernando Scaglia, Ingrid E. Scheffer, Devorah Segal, Nilika Shah Singhal, Pasquale Striano, Luisa Sturiale, Joseph D. Symonds, Sha Tang, Eric Vilain, Mary Willis, Lynne A. Wolfe, Hui Yang, Shoji Yano, Zoee Powis, Sharon F. Suchy, Jill A. Rosenfeld, Andrew C. Edmondson, Stephanie Grunewald, Hudson H. Freeze
Article
Biochemistry & Molecular Biology
Nah-Young Shin, Hajime Yamazaki, Elia Beniash, Xu Yang, Seth S. Margolis, Megan K. Pugach, James P. Simmer, Henry C. Margolis
JOURNAL OF BIOLOGICAL CHEMISTRY
(2020)
Article
Dentistry, Oral Surgery & Medicine
Y. J. Kim, J. Kang, F. Seymen, M. Koruyucu, H. Zhang, Y. Kasimoglu, M. Bayram, E. B. Tuna-Ince, S. Bayrak, N. Tuloglu, J. C. -C. Hu, J. P. Simmer, J. -W. Kim
JOURNAL OF DENTAL RESEARCH
(2020)
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
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
Biochemistry & Molecular Biology
Youn Jung Kim, Yejin Lee, Hong Zhang, John Timothy Wright, James P. Simmer, Jan C. -C. Hu, Jung-Wook Kim
Summary: Amelogenesis imperfecta (AI) is a rare genetic condition affecting tooth enamel, causing insufficient enamel quantity or altered quality. A mutation in ENAM was identified in a Caucasian family with hypoplastic AI, leading to abnormal translation and reduced protein expression. This study provides insights into how a mutation in the ENAM gene can cause hypoplastic AI while maintaining normal amino acid sequence.
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
Genetics & Heredity
Dianalee McKnight, Lora Bean, Izabela Karbassi, Katelynn Beattie, Thierry Bienvenu, Hope Bonin, Ping Fang, John Chrisodoulou, Michael Friez, Maria Helgeson, Rahul Krishnaraj, Linyan Meng, Lindsey Mighion, Jeffrey Neul, Alan Percy, Simon Ramsden, Huda Zoghbi, Soma Das
Summary: The Rett and Angelman-like Disorders Variant Curation Expert Panel (Rett/AS VCEP) provided customized variant interpretation criteria for genes MECP2, CDKL5, FOXG1, UBE3A, SLC9A6, and TCF4, which led to high consistency in interpretation among multiple curators. 13 variants had classification changes when assessed using the modified guidelines.
Article
Medicine, Research & Experimental
Carlos G. Vanoye, Reshma R. Desai, Zhigang Ji, Sneha Adusumilli, Nirvani Jairam, Nora Ghabra, Nishtha Joshi, Eryn Fitch, Katherine L. Helbig, Dianalee McKnight, Amanda S. Lindy, Fanggeng Zou, Ingo Helbig, Edward C. Cooper, Alfred L. George
Summary: This study investigated the functional and pharmacological properties of numerous KCNQ2 gene variants using automated patch clamp recordings. The results showed that most disease-associated KCNQ2 variants exhibited prominent loss-of-function with dominant-negative effects, providing strong evidence for their pathogenicity. Additionally, the response of KCNQ2 variants to retigabine, a proposed precision therapy, varied depending on the genotype.
Article
Genetics & Heredity
Dianalee McKnight, Sara L. Bristow, Rebecca M. Truty, Ana Morales, Molly Stetler, M. Jody Westbrook, Kristina Robinson, Darlene Riethmaier, Felippe Borlot, Marissa Kellogg, Sean T. Hwang, Anne Berg, Swaroop Aradhya
Summary: The study highlights the diagnostic yield of genetic testing in adults with epilepsy, especially for those with childhood-onset seizures, intellectual disability, and pharmacoresistance, indicating its utility for clinical management and outcomes.
NEUROLOGY-GENETICS
(2022)
Article
Clinical Neurology
Fernanda Leal-Pardinas, Rebecca Truty, Dianalee A. McKnight, Britt Johnson, Ana Morales, Sara L. Bristow, Tiffany Yar Pang, Jessica Cohen-Pfeffer, Emanuela Izzo, Raman Sankar, Sookyong Koh, Elaine C. Wirrell, John J. Millichap, Swaroop Aradhya
Summary: This study assessed the effectiveness of genetic testing in shortening the time to diagnosis of late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease. The findings indicate that facilitated access to early epilepsy gene panel testing helps to increase diagnostic yield for CLN2 disease and shortens the time to diagnosis, enabling earlier intervention.
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)
Review
Dentistry, Oral Surgery & Medicine
James Patrick Simmer, Nina C. Hardy, Afriti F. Chinoy, John D. Bartlett, Jan C-C. Hu
JOURNAL OF INTERNATIONAL SOCIETY OF PREVENTIVE AND COMMUNITY DENTISTRY
(2020)
Article
Clinical Neurology
Kimberly Goodspeed, Eduardo Perez-Palma, Sumaiya Iqbal, Dominique Cooper, Annalisa Scimemi, Katrine M. Johannesen, Arthur Stefanski, Scott Demarest, Katherine L. Helbig, Jingqiong Kang, Frances C. Shaffo, Brandon Prentice, Catherine A. Brownstein, Byungchan Lim, Ingo Helbig, Emily De Los Reyes, Dianalee McKnight, Vincenzo Crunelli, Arthur J. Campbell, Rikke S. Moller, Amber Freed, Dennis Lal
BRAIN COMMUNICATIONS
(2020)