Abstract:
:Van der Woude syndrome (VWS) is an autosomal-dominant oral facial disorder. To find a gene mutation in a Japanese family using fingernail DNA samples, we performed this study. We hypothesized that a gene mutation in IRF6 might be involved in VWS, and that fingernail DNA samples may be valuable for detecting such mutations. Linkage and haplotype analyses of the family mapped the disease locus to the 1q32-q41 region. Mutation analysis with an improved extraction method for fingernail DNA detected a novel missense mutation (1046A>T, E349V) in exon 7 of IRF6 in all the affected members of the family. Since the E349V change may disturb the hydrophobic core and affect regulatory activity of IRF6, it is most likely that the mutation is causative for VWS in this family. Fingernail DNA is thus useful for linkage and mutation analyses, since the fingernail can be easily obtained non-invasively, sent through the mail, and stored for a long period. We emphasize here the usefulness of fingernail DNA for the genetic analysis of a disease.
journal_name
J Dent Resjournal_title
Journal of dental researchauthors
Matsuzawa N,Shimozato K,Natsume N,Niikawa N,Yoshiura Kdoi
10.1177/154405910608501215subject
Has Abstractpub_date
2006-12-01 00:00:00pages
1143-6issue
12eissn
0022-0345issn
1544-0591pii
85/12/1143journal_volume
85pub_type
杂志文章abstract::A plaque growth chamber was developed for long-term growth of five separate plaques from the same plaque or saliva sample under identical conditions of temperature and gas phase. Reagent addition and growth conditions for each plaque could be independently controlled, and each was accessible for sequential sampling an...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345910700110301
更新日期:1991-11-01 00:00:00
abstract::This paper discusses loosely bound fluoride and its role in dental caries and prevention. Loosely bound fluoride (abbr. by Fa) is fluoride adsorbed onto enamel mineral crystallites. Several recent studies indicate that a high total level of fluoride in enamel does not guarantee protection against caries. This leads to...
journal_title:Journal of dental research
pub_type: 杂志文章,评审
doi:10.1177/00220345900690S118
更新日期:1990-02-01 00:00:00
abstract::Minimizing patient exposure while maintaining a diagnostically acceptable radiograph is a major goal in diagnostic radiography. Rare-earth filters may be the means to achieve this goal due to their "band-pass effect". The purpose of this study was to examine the image contrast effects and exposure reductions for vario...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345870660080701
更新日期:1987-08-01 00:00:00
abstract::Estrogen deficiency results in disruption of maxillary alveolar bone microarchitecture. Most of the actions of estrogen in long bones occur via estrogen receptor α (ERα). However, the function of ERα in the maxillary bone has not been defined. We aimed to investigate the role and underlying mechanisms of ERα in the ph...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/0022034516633154
更新日期:2016-06-01 00:00:00
abstract::Several studies indicated that serotype/biotype c strains are the most common on a global basis, but that regional differences may occur relative to other serotype/biotypes. Of particular interest is the observation that individuals residing in the Middle East have higher incidences of serotype e and d strains relativ...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345840630011201
更新日期:1984-01-01 00:00:00
abstract::Patients suffering from temporomandibular dysfunction exhibit clinical findings such as fatigue, painful muscles, and muscles that are tender to palpation, not only in the temporomandibular area, but also in the neck/shoulder region. The mechanisms behind this are not known, although previous studies of similar spread...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345000790101401
更新日期:2000-10-01 00:00:00
abstract::Polynomial and catenary equations were fit by least square error methods to the dentitions of seven children with "normal" occlusion. Mean and mean square error were then used to analyze accuracy of curve fits and asymmetries of arches. A lack of congruency for the "lines of occlusion" common to the maxilla and mandib...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345750540060501
更新日期:1975-11-01 00:00:00
abstract::Sintered samples of modifying porcelains of various colors and manufacturers were analyzed using reflectance spectrophotometry. Color designations are reported according to practices of the Commission Internationale de l'Eclairage (International Commission for Illumination), and color names were assigned based on a me...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345820610030801
更新日期:1982-03-01 00:00:00
abstract::A series of 4,6-dichloro-1,3,5-triazines [e.g., 2-allylamino-(ADT), diallylamino-(DADT), 2-N-p-allyloxyphenylamino-, 2-N-allyl-N-phenylamino-, and 2-N-allyl-N-p-tolylamino-4,6-dichloro-1,3,5-triazine] was synthesized and characterized by IR, NMR, and mass spectrometry. These monomers have chlorine atoms that can react...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345860650120401
更新日期:1986-12-01 00:00:00
abstract::Adhesion of restorative and protective materials to dentin is an important requirement for operative and preventive dentistry. Wettability and roughness are dentin substrate conditions that are critical to establishing good adhesion. This study examined superficial and deep dentin for variations in water contact angle...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345990780091001
更新日期:1999-09-01 00:00:00
abstract::Bone and dentin share similar biochemical compositions and physiological properties. Dentin, a major tooth component, is formed by odontoblasts; in contrast, bone is produced by osteoblasts. Osterix (Osx), a zinc finger-containing transcription factor, has been identified as an essential regulator of osteoblast differ...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/0022034514565647
更新日期:2015-03-01 00:00:00
abstract::Composite resin restorations in cavities are generally associated with the development of a contraction gap during the first minutes after insertion. Enamel-Bond-Concise composite restoration were placed on both approximal sides of extracted pre-molars. The cervical walls of all cavities extended beyond the enamel-cem...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345840630051501
更新日期:1984-05-01 00:00:00
abstract::Although proanthocyanidins (PACs) modify dentin, the effectiveness of different PAC sources and the correlation with their specific chemical composition are still unknown. This study describes the chemical profiling of natural PAC-rich extracts from 7 plants using ultra high pressure/performance liquid chromatography ...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/0022034514523783
更新日期:2014-04-01 00:00:00
abstract::A number of studies have been made investigating the properties of dental prosthodontic soft polymer materials. In such materials, which are used as short-term denture soft liners, the polymer component is complexed with one or more plasticizers. This lowers the glass transition temperature, Tg, of the polymer by allo...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345910700050201
更新日期:1991-05-01 00:00:00
abstract::Six subjects wore intra-oral devices carrying eight bovine enamel blocks which were covered with a layer of S. mutans. They rinsed their mouths for five sec, one min, or multiples of one min with a 5 or 10% glucose (G) solution. Demineralization was measured after 45 min by determining the change in iodide permeabilit...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345860650021001
更新日期:1986-02-01 00:00:00
abstract::In this study, we analyzed the influence of prosthetic abutment height on marginal bone loss (MBL) around implants in the posterior maxilla. In this retrospective cohort study, the radiographically determined MBL was related to the height of the abutments of internal conical connection implants at 6 and 18 months post...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/0022034513519800
更新日期:2014-07-01 00:00:00
abstract::The aim of this study was to test the hypothesis that the chewing of xylitol- or xylitol/sorbitol-containing chewing gum reduces plaque formation and the acidogenic potential of dental plaque. Thirty healthy volunteers aged from 19 to 28 yrs were randomly allocated to one of three test groups, chewing either xylitol-,...
journal_title:Journal of dental research
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1177/00220345980770071001
更新日期:1998-07-01 00:00:00
abstract::Phosphatases are involved in bone and tooth mineralization, but their mechanisms of action are not completely understood. Tissue-nonspecific alkaline phosphatase (TNAP, ALPL) regulates inhibitory extracellular pyrophosphate through its pyrophosphatase activity to control mineral propagation in the matrix; mice without...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/0022034513490958
更新日期:2013-08-01 00:00:00
abstract::Experiments were performed to determine the role of the immune response in rat periodontal disease. Germ-free rats were fed defined antigen-free liquid diets or a diet containing ovalbumin(OVA) as a prototype antigen. The OVA-fed rats demonstrated increased gingival lymphocytes (mainly T at early times), OVA-sensitize...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345840630031801
更新日期:1984-03-01 00:00:00
abstract::Our long-term objective is to devise methods to improve osteotomy site preparation and, in doing so, facilitate implant osseointegration. As a first step in this process, we developed a standardized oral osteotomy model in ovariectomized rats. There were 2 unique features to this model: first, the rats exhibited an os...
journal_title:Journal of dental research
pub_type: 杂志文章,多中心研究
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abstract::An adhesive opaque resin for veneering on cast metal was developed with 4-methacryloxyethyl trimellitate anhydride and poly (methyl methacrylate)-coated titanium dioxide prepared by aqueous phase polymerization. The opaque resin was a modified 4-META/MMA-TBB resin. The powder consisted of 20% of the encapsulated mater...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345880670010501
更新日期:1988-01-01 00:00:00
abstract::The bactericidal effect of hexylresorcinol was assessed using bacterial aggregates. Increased drug concentration resulted in decreased survival of bacteria when the aggregates were exposed to hexylresorcinol for at least eight hours. This indicates that this drug may be effective against dental plaque only when availa...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345790580111501
更新日期:1979-11-01 00:00:00
abstract::Frequent consumption of cariogenic foods and bacterial infection are risk factors for early childhood caries (ECC). This study hypothesized that a short diet survey focused on frequency of foods, categorized by putative cariogenicity, would differentiate severe ECC (S-ECC) from caries-free children. Children's diets w...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/0022034510376543
更新日期:2010-11-01 00:00:00
abstract::In comparison with control rats. chronic administration of isoproterenol (IPR) caused enlargement of the parotid and submandibular glands and the synthesis of apparently new proteins, probably by acinar cells. The parotid and submandibular saliva secreted in response to methoxamine or IPR differed markedly in protein ...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345800590062001
更新日期:1980-06-01 00:00:00
abstract::The aim of this study was to investigate the diffusion dynamics of 25% hydrogen peroxide (H2O2) through enamel-dentin layers and to correlate it with dentin's structural alterations. Micro-Raman Spectroscopy (MRS) and Fourier Transform Infrared Photoacoustic Spectroscopy (FTIR-PAS) were used to measure the spectra of ...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/0022034513488893
更新日期:2013-07-01 00:00:00
abstract::The solubilities of extracellular polysaccharide fractions produced by 14 oral streptococcal strains were compared in water, aqueous lithium and guanidine salt solutions, dimethyl sulfoxide (DMSO), and a 9:1 DMSO-water mixture. The best results for solubilizing the fractions were obtained with the DMSO-water mixture p...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345750540042601
更新日期:1975-07-01 00:00:00
abstract::A complex feedback mechanism between parathyroid hormone (PTH), 1,25(OH)2D3 (1,25D), and fibroblast growth factor 23 (FGF-23) maintains mineral homeostasis, in part by regulating calcium and phosphate absorption/reabsorption. Previously, we showed that 1,25D regulates mineral homeostasis by repressing dentin matrix pr...
journal_title:Journal of dental research
pub_type: 杂志文章
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更新日期:2015-10-01 00:00:00
abstract::This study aims at modifying dual-cure composite cements by adding thio-urethane oligomers to improve mechanical properties, especially fracture toughness, and reduce polymerization stress. Thiol-functionalized oligomers were synthesized by combining 1,3-bis(1-isocyanato-1-methylethyl)benzene with trimethylol-tris-3-m...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/0022034514551768
更新日期:2014-12-01 00:00:00
abstract::Soft lining materials undergo two processes when immersed in water. Plasticizers and other soluble materials are leached into the water, and water is absorbed by the polymer. The balance between these two processes affects both the compliance and dimensional stability of the materials. ...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345830620061601
更新日期:1983-06-01 00:00:00
abstract::The Kubelka-Munk (K-M) theory provides a reflectance model for translucent materials placed on backings of different colors. We hypothesize that Kubelka-Munk (K-M) theoretical diffuse reflectance spectra of dentin and enamel are in good agreement with observed diffuse reflectance. The aim of this study was to measure ...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345010800020901
更新日期:2001-02-01 00:00:00