Abstract：
:Tooth agenesis is one of the most common developmental anomalies affecting function and esthetics. The paired-domain transcription factor, Pax9, is critical for patterning and morphogenesis of tooth and taste buds. Mutations of PAX9 have been identified in patients with tooth agenesis. Despite significant progress in the genetics of tooth agenesis, many gaps in knowledge exist in refining the genotype-phenotype correlation between PAX9 and tooth agenesis. In the present study, we complete genetic and phenotypic characterization of multiplex Chinese families with nonsyndromic (NS) tooth agenesis. Direct sequencing of polymerase chain reaction products revealed 9 novel (c.140G>C, c.167T>A, c.332G>C, c.194C>A, c.271A>T, c.146delC, c.185_189dup, c.256_262dup, and c.592delG) and 2 known heterozygous mutations in the PAX9 gene among 120 probands. Subsequently, pedigrees were extended, and we confirmed that the mutations co-segregated with the tooth agenesis phenotype (with exception of families in which DNA analysis was not available). In 1 family ( n = 6), 2 individuals harbored both the PAX9 c.592delG mutation and a heterozygous missense mutation (c.739C>T) in the MSX1 gene. Clinical characterization of families segregating a PAX9 mutation reveal that all affected individuals were missing the mandibular second molar and their maxillary central incisors are most susceptible to microdontia. A significant reduction of bitter taste perception was documented in individuals harboring PAX9 mutations ( n = 3). Functional studies revealed that PAX9 haploinsufficiency or a loss of function of the PAX9 protein underlies tooth agenesis.
journal_name
J Dent Resjournal_title
Journal of dental researchauthors
Wong SW,Han D,Zhang H,Liu Y,Zhang X,Miao MZ,Wang Y,Zhao N,Zeng L,Bai B,Wang YX,Liu H,Frazier-Bowers SA,Feng Hdoi
10.1177/0022034517729322subject
Has Abstractpub_date
2018-02-01 00:00:00pages
155-162issue
2eissn
0022-0345issn
1544-0591journal_volume
97pub_type
杂志文章abstract：:Jaw displacement tremor was investigated. Both tremor amplitude and tremor frequency were found to increase with increasing muscle activation. Co-contraction of jaw elevator and jaw depressor muscles was employed in order to vary muscle activation levels without the teeth being in occlusion. Reproducibility of tremor ...
journal_title：Journal of dental research
pub_type： 杂志文章
doi：10.1177/00220345880670080401
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abstract：:The lack of a reliable bond test has hindered the elucidation of the mechanism for porcelain-metal bonding in dental systems, because a test capable of detecting differences among porcelain-metal bonds of various qualities is required before the reasons for these differences may be ascertained. A method was developed ...
journal_title：Journal of dental research
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doi：10.1177/00220345880670020801
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abstract：:The purpose of this study was to determine the role of saliva-derived biomarkers and periodontal pathogens during periodontal disease progression (PDP). One hundred human participants were recruited into a 12-month investigation. They were seen bi-monthly for saliva and clinical measures and bi-annually for subtractio...
journal_title：Journal of dental research
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更新日期：2011-06-01 00:00:00
abstract：:Cell therapies utilizing mesenchymal stem cells (MSCs) could overcome limitations of traditional treatments for reconstructing craniofacial tissues. This large-scale study explored a standardized methodology for the isolation and clinical-scale expansion of alveolar bone marrow-derived MSCs (aBMSCs). We harvested 103 ...
journal_title：Journal of dental research
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doi：10.1177/0022034513510530
更新日期：2014-01-01 00:00:00
abstract：:The objective of this study was to calculate the stress distribution induced in anterior metal-ceramic crowns fabricated with either gold-alloy or nickel-alloy copings of reduced thickness using plane stress analyses. Two-dimensional finite element models of three crown designs were subjected to a simulated biting for...
journal_title：Journal of dental research
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更新日期：1986-09-01 00:00:00
abstract：:The monomer triethyleneglycoldimethacrylate (TEGDMA) is used as a diluent in many resin-based dental materials. It was previously shown in vitro that TEGDMA was released into the adjacent biophase from such materials during the first days after placement. In this study, the uptake, distribution, and excretion of 14C-T...
journal_title：Journal of dental research
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journal_title：Journal of dental research
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journal_title：Journal of dental research
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doi：10.1177/00220345960750081301
更新日期：1996-08-01 00:00:00
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journal_title：Journal of dental research
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journal_title：Journal of dental research
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更新日期：1988-11-01 00:00:00
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journal_title：Journal of dental research
pub_type： 杂志文章
doi：10.1177/00220345860650020301
更新日期：1986-02-01 00:00:00
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journal_title：Journal of dental research
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更新日期：1979-09-01 00:00:00
abstract：:The effects of Escherichia coli endotoxin upon mouse L929 cell proliferation, DNA synthesis, protein synthesis, and proline incorporation were determined. It was found that a level of endotoxin which inhibited cell proliferation prompted a similar inhibition of DNA synthesis and overall cell protein synthesis. In cont...
journal_title：Journal of dental research
pub_type： 杂志文章
doi：10.1177/00220345790580061301
更新日期：1979-06-01 00:00:00
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journal_title：Journal of dental research
pub_type： 杂志文章
doi：10.1177/154405910808700115
更新日期：2008-01-01 00:00:00
abstract：:Potassium ions in dentifrices for treating 'hypersensitive' dentin are believed to act directly on intradental nerves by raising extracellular potassium ion concentration ([K+]o) sufficiently to prevent action potential generation by axonal accommodation. However, the [K+]o necessary to block nerve conduction is not p...
journal_title：Journal of dental research
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doi：10.1177/00220345950740020301
更新日期：1995-02-01 00:00:00
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journal_title：Journal of dental research
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更新日期：1975-11-01 00:00:00
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journal_title：Journal of dental research
pub_type： 杂志文章
doi：10.1177/0022034511416669
更新日期：2011-10-01 00:00:00
abstract：:The effects of thermal stress on the marginal leakage of resin composite restorations in bovine teeth were investigated by a method that preserved the specimens. The changes in marginal leakage of specimens with increasing numbers of thermal cycles were measured by an electrical conductivity method. Four brands of pos...
journal_title：Journal of dental research
pub_type： 杂志文章
doi：10.1177/00220345900690100601
更新日期：1990-10-01 00:00:00
abstract：:Enamel demineralization adjacent to pit and fissure sealants leads to the formation of marginal caries, which can necessitate the replacement of existing sealants. Dental materials with bioactive glass, which releases ions that inhibit dental caries, have been studied. The purpose of this study was to evaluate the ena...
journal_title：Journal of dental research
pub_type： 杂志文章
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journal_title：Journal of dental research
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journal_title：Journal of dental research
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pub_type： 杂志文章,评审
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更新日期：2013-07-01 00:00:00
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journal_title：Journal of dental research
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pub_type： 杂志文章
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abstract：:The purpose of this work was to determine the influence of chemical food-simulating liquids on the wear of various commercial dental composite restoratives. In many cases, pre-conditioning the restoratives in these liquids for one week produced swelling of the polymer matrix and considerable surface damage. The result...
journal_title：Journal of dental research
pub_type： 杂志文章
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abstract：:The proton probe has been used to map F concentration changes in the enamel of 15 teeth showing clinical evidence of caries. Thin sections through the lesions were microradiographed and measurements made of the surface zone (radiodense) and body (radiolucent) areas. Each section was then scanned with a focused beam of...
journal_title：Journal of dental research
pub_type： 杂志文章
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更新日期：1995-11-01 00:00:00
abstract：:The discoidin domain receptors, DDR1 and DDR2, are nonintegrin collagen receptors and tyrosine kinases. DDRs regulate cell functions, and their extracellular domains affect collagen fibrillogenesis and mineralization. Based on the collagenous nature of dentoalveolar tissues, we hypothesized that DDR1 plays an importan...
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abstract：:The present study investigated a concept for additional cross-linking of dental polymers, by which resistance to wear of resin composites might be increased. Bifunctional ketones were added to monomer mixtures, which were then made light-curing and loaded with filler. The monomer mixtures were varied with respect to t...
journal_title：Journal of dental research
pub_type： 杂志文章
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更新日期：1992-11-01 00:00:00
abstract：:We have investigated the role of the activation of nuclear poly(ADP-ribose) polymerase (PARP) enzyme, a mediator of downstream nitric oxide toxicity, using a combined approach of pharmacological inhibition and genetic disruption in a ligature-induced-periodontitis model in rats and mice. Immunohistochemical analysis r...
journal_title：Journal of dental research
pub_type： 杂志文章
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更新日期：2003-12-01 00:00:00
