Abstract:
:In the past decade, medical genetic research has generated multiple discoveries, many of which were obtained via genome-wide association studies (GWASs). A major GWAS finding is that the majority of risk variants for complex traits map to noncoding regions. This has resulted in a paradigm shift in terms of the interpretation of human genomic sequence variation, with more attention now being paid to what was previously termed "junk DNA." Translation of genetic findings into biologically meaningful results requires 1) large-scale and cell-specific efforts to annotate non-protein-coding regions and 2) the integration of comprehensive genomic data sets. However, this represents an enormous challenge, particularly in the case of human traits that arise during embryonic development, such as orofacial clefts (OFCs). OFC is a multifactorial trait and ranks among the most common of all human congenital malformations. These 2 attributes apply in particular to its isolated forms (nonsyndromic OFC [nsOFC]). Although genetic studies (including GWASs) have yielded novel insights into the genetic architecture of nsOFC, few data are available concerning causality and affected biological pathways. Reasons for this deficiency include the complex genetic architecture at risk loci and the limited availability of functional data sets from human tissues that represent relevant embryonic sites and time points. The present review summarizes current knowledge of the role of noncoding regions in nsOFC etiology. We describe the identification of genetic risk factors for nsOFC and several of the approaches used to identify causal variants at these loci. These strategies include the use of biological and genetic information from public databases, the assessment of the full spectrum of genetic variability within 1 locus, and comprehensive in vitro and in vivo experiments. This review also highlights the role of the emerging research field "functional genomics" and its increasing contribution to our biological understanding of nsOFC.
journal_name
J Dent Resjournal_title
Journal of dental researchauthors
Thieme F,Ludwig KUdoi
10.1177/0022034517720403subject
Has Abstractpub_date
2017-10-01 00:00:00pages
1238-1247issue
11eissn
0022-0345issn
1544-0591journal_volume
96pub_type
杂志文章,评审abstract::Debonding rates of 164 resin-bonded prostheses (RBP) placed from 1974 to 1985 were examined at recall. The yearly debond rates were calculated, the cumulative probability of failure was determined for the debonded RBPs, and Weibull distribution parameters were determined. For perforated prostheses, there was a high in...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345930720081401
更新日期:1993-08-01 00:00:00
abstract::It was the aim of this 24-mo randomized controlled clinical trial to investigate whether the survival of a single median implant placed in the edentulous mandible to retain a complete denture is not compromised by immediate loading. Secondary outcomes were differences in prosthetic complications between the loading pr...
journal_title:Journal of dental research
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1177/0022034517736063
更新日期:2018-02-01 00:00:00
abstract::Dietary components rich in polyphenols-for example, tea and red wine-are thought to cause tooth staining. In the present study, hydroxyapatite was used as a model of enamel for study of the influence of salivary proteins on the binding of different polyphenols to hydroxyapatite in vitro. Neither salivary protein pelli...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/154405910508400113
更新日期:2005-01-01 00:00:00
abstract::Growth factors such as epidermal growth factor (EGF) and transforming growth factor-alpha (TGF-alpha) play an important role in cell proliferation during embryogenesis. The purposes of the study were to characterize the expression patterns of EGF and TGF-alpha and their receptor, EGF receptor (EGF-R), and to analyze r...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345960750080301
更新日期:1996-08-01 00:00:00
abstract::Disks of dentin taken from extracted human teeth demonstrated the optical property of the magnification/reduction effect. When images were transmitted from a pulpal-to-occlusal direction, the images were magnified. When the disks were inverted, the images were reduced in size. The images were slightly distorted but cl...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345760550041601
更新日期:1976-07-01 00:00:00
abstract::In the absence of active pulmonary disease, mycobacterial infection frequently causes arthritis and can be considered to initiate autoimmune diseases such as rheumatoid arthritis. Temporomandibular disorder (TMD) is a disease in which pain and impaired mandibular movement appear to arise directly from degenerative or ...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345000790100401
更新日期:2000-10-01 00:00:00
abstract::The effects of demineralized dentin and bone matrix on dental ectomesenchymal cells were evaluated after observation periods of two or three weeks. Autogenous dentin and bone matrix, obtained from the crowns of primary molars or maxillary cortical bone, respectively, were demineralized with 3% acetic acid and implante...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345900690011301
更新日期:1990-01-01 00:00:00
abstract::15-deoxy-Delta(12,14)-prostaglandin J(2) (15-d-PGJ(2)) and troglitazone have been shown to induce apoptosis in several carcinoma cell lines. However, apoptotic signaling pathways of these agents are poorly understood. We tested the hypothesis that peroxisome proliferator-activated receptor-gamma ligands such as these ...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/154405910308201008
更新日期:2003-10-01 00:00:00
abstract::During orofacial tissue development, the anterior and posterior regions of the Meckel's cartilage undergo mineralization, while the middle region undergoes degeneration. Despite the interesting and particular phenomena, the mechanisms that regulate the different fates of Meckel's cartilage, including the effects of bi...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/0022034520960118
更新日期:2021-02-01 00:00:00
abstract::Interfacial bonding and stability of gamma-methacryloxypropyltrimethoxysilane with silica surfaces have been studied by means of infrared spectroscopy. The addition of n-propylamine enhances silanization of gamma-methacryloxypropyltrimethoxysilane to silica surfaces in normal aliphatic hydrocarbons, and cyclohexane yi...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345820610121301
更新日期:1982-12-01 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::Resin composites must be improved if they are to overcome the high failure rates in large stress-bearing posterior restorations. This study aimed to improve wear resistance via nano-silica-fused whiskers. It was hypothesized that nano-silica-fused whiskers would significantly improve composite mechanical properties an...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/154405910408301208
更新日期:2004-12-01 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::The effect of chronic fluoride (F) exposure from the drinking water on parameters related to glucose homeostasis was investigated. Wistar rats were randomly distributed into 2 groups (diabetic [D] and nondiabetic [ND]; n = 54 each). In D, diabetes was induced with streptozotocin. Each group was further divided into 3 ...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/0022034515581186
更新日期:2015-07-01 00:00:00
abstract::The flexure moduli of elasticity of solid and multi-stranded orthodontic wires were determined. Results for the solid wires approximated their tensile values, but the differences were statistically significant for the stainless steel, chromium-cobalt-nickel, and nickel-titanium alloys. The flexure moduli of the multi-...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345830620072201
更新日期:1983-07-01 00:00:00
abstract::The purpose of the work described here was to investigate the mechanisms involved in the binding of salivary alpha-amylase to Streptococcus gordonii NCTC 7868 (Challis). Of six types of alpha-amylase studied, only mammalian forms of the enzyme were found to bind to S. gordonii cells. Salivary alpha-amylase binding was...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345900690110701
更新日期:1990-11-01 00:00:00
abstract::Breastfeeding is important for health and development. Yet, the interaction between breastfeeding duration and usage of fluoridated water on caries experience has not been investigated. This study examined exposure to fluoridation as an effect modifier of the association between breastfeeding duration and caries. The ...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/0022034519843487
更新日期:2019-07-01 00:00:00
abstract::The sagittal and frontal active envelope of border movement is applied regularly as a clinical tool in functional examinations of the human masticatory system. In contrast, the three-dimensional movement area has hardly been examined. Furthermore, the determinants of this area are not established unambiguously. In the...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345010800100901
更新日期:2001-10-01 00:00:00
abstract::Previous studies showed that residual compressive stresses induced by thermal tempering retarded the growth of surface cracks in bilayered porcelain disks. The objectives of the present study were: (1) to determine whether thermal tempering by air blasting reduces the length of cracks induced by microhardness indentat...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345960750020301
更新日期:1996-02-01 00:00:00
abstract::Mucous membrane pemphigoid or cicatricial pemphigoid is a mucocutaneous blistering disease characterized by autoantibodies to different molecules in the basement membrane zone. Our objectives were to identify the target antigen recognized by sera from 20 untreated patients with pemphigoid disease limited to the oral c...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345010800080601
更新日期:2001-08-01 00:00:00
abstract::A silver-plating technique was developed in an effort to produce good mechanical bonding characteristics between stainless steel pins and amalgam. Metallographic microscope and scanning electron microscope (SEM) studies were made to assess the presence, or otherwise, of such a bond between (a) the silver layer plating...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345800590020301
更新日期:1980-02-01 00:00:00
abstract::During the polymerization of multifunctional monomers for dental restorations, typical final double-bond conversions range from 55 to 75%. The low conversion results in a large amount of extractable monomer, reduced adhesion to the filler, and the potential for increased swelling. In this work, the ability to increase...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345960750081301
更新日期:1996-08-01 00:00:00
abstract::Much research has been devoted to the study of etched enamel, since it is critical to bonding. Currently, there are no precise data regarding the etched-enamel specific surface area. The aim of this study was to characterize, by two different methods, the surface of human dental enamel in vitro after being etched. It ...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/154405910808700607
更新日期:2008-06-01 00:00:00
abstract::The purpose of this study was to investigate the mechanism of surface layer formation in artificial white spots. Two nondestructive nuclear micro-analysis techniques were employed to analyze windows of human dental enamel at progressive stages of an artificial lesion. Fluoride concentrations were measured to a depth o...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345830620091001
更新日期:1983-09-01 00:00:00
abstract::Wall-to-wall (WTW) polymerization contraction of filled and unfilled chemically and photo-initiated resins was studied in relation to the WTW distance. In an experimental set-up, the resins were bonded to two opposing disks, and the axial (WTW) displacement resulting from the polymerization shrinkage was measured cont...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345890680010701
更新日期:1989-01-01 00:00:00
abstract::Acculturation is a complex phenomenon that can serve as a proxy for cultural norms and behaviors affecting care-seeking, prevention behaviors, and, ultimately, health outcomes. The purpose of this study was to assess the effect of acculturation on the oral health of Haitian immigrants in New York City. We hypothesized...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/154405910408300219
更新日期:2004-02-01 00:00:00
abstract::The ability of human oral bacteria to inhibit Streptococcus mutans was studied under a variety of in vitro conditions using an agar overlay assay. Extensive inherent variability in microbial antagonism by certain organisms was demonstrated. Antagonistic activity was also significantly influenced by changes in the assa...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345800590110501
更新日期:1980-11-01 00:00:00
abstract::Matrix metalloproteinase (MMP) inhibition has been shown to reduce adhesive bond degradation when applied as a pre-conditioner, adding to clinical steps in the placement of adhesives, but their incorporation within dental adhesives has not been fully explored. This study examined the effect of including 2 MMP inhibito...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/0022034512446339
更新日期:2012-06-01 00:00:00
abstract::The authors tested the hypothesis that obstructive sleep apnea (OSA) signs/symptoms are associated with the occurrence of temporomandibular disorder (TMD), using the OPPERA prospective cohort study of adults aged 18 to 44 years at enrollment (n = 2,604) and the OPPERA case-control study of chronic TMD (n = 1,716). In ...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/0022034513488140
更新日期:2013-07-01 00:00:00
abstract::In 1986, the first nationwide epidemiological survey of adult oral health and attitudes to oral health care was carried out in The Netherlands. One of the aims of this study was to evaluate the prevalence and the quality (in terms of need for replacement) of amalgam and composite restorations in the Dutch adult popula...
journal_title:Journal of dental research
pub_type: 杂志文章
doi:10.1177/00220345900690060901
更新日期:1990-06-01 00:00:00