Abstract:
:A frameshift mutation recently identified within the paired domain of the transcription factor, PAX9, has been linked to a unique form of oligodontia in a single, multigenerational family (Stockton et al., 2000). We now describe the phenotypic and segregation analyses of this remarkable kindred, the initial approach taken to identify a candidate gene involved in this form of oligodontia, and the power of this single-family pedigree to generate significant linkage in a genome search. Of the 43 family members enrolled in this study, 21 individuals were affected with several congenitally missing permanent teeth. The pattern of inheritance of the oligodontia trait suggested the involvement of a single gene bearing a dominant mutation. To various degrees, affected members lacked permanent first, second, and third molars in all four quadrants. Several individuals with missing molars also lacked second premolars- most commonly, maxillary second premolars and mandibular central incisors. To the best of our knowledge, this pattern of non-syndromic, familial tooth agenesis has not been previously described in the literature. Since a missense mutation in the homeobox gene, MSX1, was previously linked to tooth agenesis in a single family lacking second premolars and third molars, we performed a mutational analysis of MSX1 by PCR. The absence of a mutation in exons 1 and 2 of MSX1 suggested that allelic mutations in the coding region of MSX1 are not associated with this phenotypically distinct form of oligodontia. Computer simulation of linkage analysis further proved that this pedigree alone was sufficient to generate a significant result for a total genome scan.
journal_name
J Dent Resjournal_title
Journal of dental researchauthors
Goldenberg M,Das P,Messersmith M,Stockton DW,Patel PI,D'Souza RNdoi
10.1177/00220345000790070701keywords:
subject
Has Abstractpub_date
2000-07-01 00:00:00pages
1469-75issue
7eissn
0022-0345issn
1544-0591journal_volume
79pub_type
杂志文章abstract::Ammoniacal silver stain showed that there was a decrease in nucleohistones in zinc-deficient rat buccal hyperplastic epithelium as compared to control. Autoradiographic study showed that there was decreased incorporation of 3H-arginine and 3H-lysine in the hyperplastic epithelium. ...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345770560122501
更新日期:1977-12-01 00:00:00
abstract::Current challenges in adhesive dentistry include over-hydrophilic bonding formulations, which facilitate water percolation through the hybrid layer and result in unreliable bonded interfaces. This study introduces nanogel-modified adhesives as a way to control the material's hydrophobic character without changing the ...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/0022034511426573
更新日期:2012-02-01 00:00:00
abstract::Cardiovascular disease is a common cause of morbidity and premature mortality. Cardiovascular disease can be prevented when risk factors are identified early. Calcified carotid artery atheromas (CCAAs), detected in panoramic radiographs, and periodontitis have both been associated with increased risk of cardiovascular...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/0022034519885362
更新日期:2020-01-01 00:00:00
abstract::Vascular endothelial growth factor (VEGF) is a potent inducer of angiogenesis, vascular permeability, and edema. Up-regulation of VEGF expression in the dental pulp may result in increased intra-pulpal pressure, and contribute to pain and irreversible tissue damage. Lipoteichoic acid (LTA) is an amphiphilic molecule f...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/154405910308200612
更新日期:2003-06-01 00:00:00
abstract::Each odontoblast is tightly linked to other odontoblasts. They form a line of defense and are capable of withstanding external stimuli, particularly the inflammation caused by caries. Thus, we investigated exosomes derived from odontoblasts as an intercellular mechanism by which inflamed odontoblasts are protected fro...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/0022034519869580
更新日期:2019-10-01 00:00:00
abstract::Porcine dentin sialophosphoprotein (DSPP) is the most abundant non-collagenous protein in dentin. It is processed by proteases into 3 independent proteins: dentin sialoprotein (DSP), dentin glycoprotein (DGP), and dentin phosphoprotein (DPP). We fractionated DPP and DSP along with TGF-β activity by ion exchange (IE) c...
journal_title:Journal of dental research
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doi:10.1177/0022034514534690
更新日期:2014-07-01 00:00:00
abstract::Gingiva from alloxan and streptozotocin-diabetic rats exhibited markedly enhanced collagenolytic activity in tissue culture. This effect was eliminated by puromycin or by repeated freeze-thawing of the tissue prior to incubation. Soluble extracts of the diabetic gingiva in situ were found to contain breakdown products...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345780570032101
更新日期:1978-03-01 00:00:00
abstract::The type of attachment that is used in oral rehabilitation by means of implant-retained mandibular overdentures may influence the retention and the stability of the denture. In this study, we examined the hypothesis that a better retention and stability of the denture improve the oral function. Eighteen edentulous sub...
journal_title:Journal of dental research
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1177/154405910208100305
更新日期:2002-03-01 00:00:00
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
更新日期:1988-08-01 00:00:00
abstract::The color of an unshaded body porcelain was determined at three thicknesses on white, gray, and three chromatic backings. Spectral absorption and scattering coefficients of the porcelain were determined from the diffuse reflectance at one thickness on the white and gray backings. These optical coefficients, when utili...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345850640061801
更新日期:1985-06-01 00:00:00
abstract::Submandibular glands from young adult and aged male and female rats have been examined and various descriptive parameters obtained. Several sex differences were observed with tissue from young and old animals. Sex differences were found in the gland contents of DNA, protein, and sialic acid and in some protein compone...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345810600051501
更新日期:1981-05-01 00:00:00
abstract::Dental implants have become an increasingly popular treatment choice for replacing missing teeth. Yet, little is known about the prevalence and sociodemographic distribution of dental implant use in the United States. To address this knowledge gap, we analyzed data from 7 National Health and Nutrition Examination Surv...
journal_title:Journal of dental research
pub_type: 历史文章,杂志文章
doi:10.1177/0022034518792567
更新日期:2018-12-01 00:00:00
abstract::In this study, environmental stains were removed from maxillofacial elastomers by solvent extraction. Silastic 44210, an RTV silicone with proven color and physical property stability, was stained with lipstick, disclosing solution, and methylene blue. These stains were then removed by solvent extraction with each of ...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345810600100501
更新日期:1981-10-01 00:00:00
abstract::The frequency and impact of temporomandibular joint (TMJ) disorders necessitate research in characterizing the joint's function. The 6 discal attachments have not yet been systematically characterized under tension. Understanding their role in joint function may guide our study of TMJ pathologies, including disc displ...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/0022034513494817
更新日期:2013-08-01 00:00:00
abstract::Autoimmune responses to heat-shock protein 60 (HSP60) contribute to the progression of atherosclerosis, whereas immunization with HSP60 may induce atheroprotective responses. We assessed the capacity of an atheroprotective vaccine that targeted a recombinant HSP60 from Porphyromonas gingivalis (rGroEL) to induce a pro...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/0022034514523784
更新日期:2014-04-01 00:00:00
abstract::Dental porcelains that are designed to be fused to PFM (porcelain-fused-to-metal) alloys are formulated by their manufacturers to be closely matched in thermal expansion to these alloys. The high thermal expansion of the mineral leucite has been exploited to regulate porcelain expansion. Leucite, however, has been obs...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345000790081101
更新日期:2000-08-01 00:00:00
abstract::The main goal of peri-implantitis treatment is to control infection and arrest bone loss, which requires the removal of polymicrobial biofilms on the implant surface and the reduction of tissue invasion. Additionally, prognosis can be improved if reosseointegration occurs on previously contaminated implants. To evalua...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/0022034520913873
更新日期:2020-07-01 00:00:00
abstract::Cleft palate is among the most common structural birth defects in humans. Previous studies have shown that mutations in FOXF2 are associated with cleft palate in humans and mice and that Foxf2 acts in a Shh-Foxf-Fgf18-Shh molecular network controlling palatal shelf growth. In this study, we combined RNA-seq and ChIP-s...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/0022034520904018
更新日期:2020-04-01 00:00:00
abstract::Significant inhibition of PMN metabolic activity by F- occurred at 0.1, 0.5 and 0.0 mM F- for O2- generation, 1-C14 CO2 release labeled glucose and NBT-reduction respectively. This inhibition resulted primarily from F- suppression of nonoxidative glucose metabolism. As the concentration of F- in the O2- generating sys...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345790580092101
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abstract::The dental pulp in human primary teeth is densely innervated by a plethora of nerve endings at the coronal pulp-dentin interface. This study analyzed how the physiological root resorption (PRR) process affects dental pulp innervation before exfoliation of primary teeth. Forty-four primary canine teeth, classified into...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/0022034515593055
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abstract::We placed an MOD preparation in each of 12 permanent molars, then restored each tooth with a posterior composite resin by means of six different application techniques (I-polymerization as one complete unit; II--polymerization as one complete unit with glass inserts; III--polymerization in gingivo-occlusal increments;...
journal_title:Journal of dental research
pub_type: 杂志文章
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abstract::It is shown that the creep behavior of a commercial dispersant-amalgam containing copper is improved by the addition of a manganese-containing alloy. This improvement is apparently obtained without any serious changes in corrosion resistance, provided that no more than 20% of the Mn alloy is added. ...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345780570090601
更新日期:1978-09-01 00:00:00
abstract::In the current theme of dental pulp regeneration, biological and synthetic scaffolds are becoming a potential therapy for pulp revitalization. The goal is to provide a suitable environment for cellular infiltration, proliferation, and differentiation. The extracellular matrix (ECM) represents a natural scaffold materi...
journal_title:Journal of dental research
pub_type: 杂志文章
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更新日期:2018-12-01 00:00:00
abstract::Amylase activity in various tissues--i.e., submandibular/sublingual and parotid glands, the pancreas, saliva, and serum--in rats was measured after injection of isoproterenol, pilocarpine, and acetylcholine. All agents reduced amylase activity in the parotid gland and increased the enzyme activity in the submandibular...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345830620011201
更新日期:1983-01-01 00:00:00
abstract::Erupting first permanent molars of 5 1/2 to 6 1/2 year-olds are eminently suited for the clinical testing of potential caries-inhibiting techniques. Due to the rapid onset of caries in these teeth, accurate monitoring of new materials/regimes can be instituted and meaningful data obtained within one year of trial comm...
journal_title:Journal of dental research
pub_type: 临床试验,杂志文章
doi:10.1177/002203457705600301011
更新日期:1977-10-01 00:00:00
abstract::Adhesion of epithelium to the extracellular matrix is crucial for the maintenance of systemic and oral health. In the oral cavity, teeth or artificial dental implants penetrate the soft tissue of the gingiva. In this interface, gingival soft tissue needs to be well attached via the epithelial seal to the tooth or impl...
journal_title:Journal of dental research
pub_type: 杂志文章,评审
doi:10.1177/0022034511402207
更新日期:2011-12-01 00:00:00
abstract::The antimicrobial and cariostatic activities of the dihydrochloride and dihydrofluoride salts of alexidine (1,6-bis-[2-ethylhexylbiguanido]hexane) were compared to those of chlorhexidine acetate and sodium fluoride in rats implanted orally with Streptococcus mutans 6715 and fed a cariogenic diet. Experimental caries w...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345790580041901
更新日期:1979-04-01 00:00:00
abstract::The range of substrates transported by the sugar-binding protein-dependent msm (multiple sugar metabolism) system of S. mutans was investigated. By determining the ability of unlabeled sugar to compete with radiolabeled melibiose transport, we have demonstrated that the transported sugars included a number of carbohyd...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345930720100701
更新日期:1993-10-01 00:00:00
abstract::Urinary catecholamines have been used to measure emotionally stressful states which may affect the development of dental caries. This study investigates the hypothesis that children with and without dental caries do not differ significantly in the mean values of urinary catecholamines such as epinephrine, norepinephri...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345950740100801
更新日期:1995-10-01 00:00:00
abstract::Four disclosant dyes were tested for antimicrobial activity against 27 oral reference strains and five non-oral human pathogens. Erythrosine and fluorescein inhibited most gram-positive and gram-negative organisms associated with dental plaque, and were bactericidal to selected strains. Fast green and brilliant blue d...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345830620071601
更新日期:1983-07-01 00:00:00