Abstract：
OBJECTIVE:Inherited congenital anomalies in tooth number, particularly hypodontia are relatively common. Although substantial progress has been made that permits a better understanding of the causes of tooth agenesis, overall knowledge of the phenotype:genotype correlations in this anomaly are still lacking. The aim in this study was to identify the causal gene mutation(s) in a family of two sisters with severe hypodontia (oligodontia) including 2nd premolars and 1st and 3rd molars, using whole exome sequencing (WES). METHODS:WES was performed using in-solution hybridization, followed by massively parallel sequencing. RESULTS:A frameshift insertion of 7 basepairs (GCAAGTT) in the homebox of MSX1 gene located in the exon 2 in heterozygous state has been identified in both sisters (NM_002448:exon2:c.572_573ins GCAAGTT: p.F191fs). CONCLUSION:We conclude that this frameshift mutation in the homeodomain (which plays an essential role in DNA binding) of MSX1 gene is responsible for tooth agenesis in this family. This expands the phenotype-genotype correlation associated with MSX1 mutations.
journal_name
Arch Oral Bioljournal_title
Archives of oral biologyauthors
Abid MF,Simpson MA,Petridis C,Cobourne MT,Sharpe PTdoi
10.1016/j.archoralbio.2016.11.018subject
Has Abstractpub_date
2017-03-01 00:00:00pages
8-13eissn
0003-9969issn
1879-1506pii
S0003-9969(16)30350-8journal_volume
75pub_type
杂志文章abstract：OBJECTIVE:The aim of this study was to test the hypothesis that patients with persistent dentoalveolar pain disorder (PDAP) expresses somatosensory abnormalities through quantitative sensory testing (QST), when compared to healthy controls; and that individuals with PDAP do not have somatosensory alterations after appl...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/j.archoralbio.2015.02.027
更新日期：2015-07-01 00:00:00
abstract：OBJECTIVE:To understand bone regeneration process after tooth extraction could be a clue to develop a new strategy for alveolar bone reconstruction. Recently, accumulated evidences support that connective tissue growth factor (CTGF) is implicated in tissue repair of many tissues. In this study, we investigated the spat...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/s0003-9969(03)00153-5
更新日期：2003-10-01 00:00:00
abstract：OBJECTIVE:To investigate the functional mechanism of microRNA-182 (miR-182) in head and neck squamous cell carcinoma (HNSCC). DESIGN:HNSCC and normal samples were used to check both p53 and miR-182 expression. Two cancer cell lines with overexpression of miR-182 were used to check cell proliferation and migration. In ...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/j.archoralbio.2016.09.012
更新日期：2017-01-01 00:00:00
abstract：OBJECTIVE:Streptococcus mutans is known to be a primary causative agent of dental caries and its surface proteins have been investigated to specify their association with its virulence. Amongst those, 4 glucan-binding proteins (Gbps) are considered to be important factors due to their glucan-binding properties, of whic...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/j.archoralbio.2010.09.018
更新日期：2011-03-01 00:00:00
abstract：:Degradation of phenylalanine and leucine by resting cells of Eubacterium brachy ATCC 33089 were studied under strict anaerobic conditions. The effects of metronidazole and air on the metabolism were also studied. The organism principally produced phenylpropionate and isocaproate from phenylalanine and leucine, respect...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/0003-9969(94)90080-9
更新日期：1994-11-01 00:00:00
abstract：:We report a specimen of an insular black rat (Rattus rattus) from Illa den Colom (Menorca, Western Mediterranean) displaying a singular dental characteristic. It has no molar teeth but displays regular incisors. Its mere occurrence as a regular adult rat is puzzling and we attempted to evaluate what diet and morpholog...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/j.archoralbio.2010.05.004
更新日期：2010-08-01 00:00:00
abstract：OBJECTIVES:The present study aimed firstly, to investigate whether pulpal circulatory changes elicited by innocuous tooth cooling and foot heating can be monitored with transmitted-light plethysmography (TLP), which detects pulpal blood volume changes, and secondly, to assess the effect of autonomic nervous control on ...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/j.archoralbio.2020.104881
更新日期：2020-11-01 00:00:00
abstract：:Pulp tissues isolated from rats treated with either colchicine (0.5, 0.75 or 1.0 mg/kg) or beta-lumicolchicine (1.0 mg/kg) for 24 h were incubated in Tyrode buffer. Prostaglandin (PG) I2 and thromboxane (TX) A2 released into the medium were determined by radioimmunoassay as their stable metabolites, 6-keto-PGF1 alpha ...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/0003-9969(88)90063-5
更新日期：1988-01-01 00:00:00
abstract：OBJECTIVE:Streptococcus mutans is a principal bacterium that forms pathogenic biofilm involved in the development of dental caries. S. mutans possesses a quorum sensing system (QS) stimulated by competence stimulating peptide (CSP), which is associated with bacteriocin production, genetic competency and biofilm formati...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/j.archoralbio.2019.04.010
更新日期：2019-06-01 00:00:00
abstract：OBJECTIVES:Knowledge of the various possible morphologies and courses of the inferior alveolar nerve and artery is important for successful and safe surgical procedures in the mandibular region. The purpose of this study was to verify the histologic features and fascicular arrangement of the inferior alveolar nerve and...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/j.archoralbio.2015.09.007
更新日期：2015-12-01 00:00:00
abstract：:Casein phosphopeptides (CPP) stabilize amorphous calcium phosphate (ACP) and may be used to localize ACP in dental plaque, maintaining a state of supersaturation with respect to tooth enamel, reducing demineralization and enhancing remineralization. The aim here was to investigate these effects by measuring the effect...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/s0003-9969(00)00017-0
更新日期：2000-07-01 00:00:00
abstract：:This study was undertaken to reveal detailed changes in fluoride distribution at different developmental stages of upper incisor enamel under various fluoride administration regimes. Four groups of Wistar rats received water containing 0, 25, 50 and 100 parts/10(6) fluoride respectively for 10 weeks. Five different en...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/0003-9969(88)90119-7
更新日期：1988-01-01 00:00:00
abstract：:Significant differences were found in the electromyographic (EMG) activation between the masseter and temporalis muscles for the leaf gauge (LG), manually manipulated (CR) and neuromuscular (NM) bite positions during maximal static clench. The LG position consistently demonstrated the lowest EMG activity, while the NM...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/0003-9969(93)90037-m
更新日期：1993-03-01 00:00:00
abstract：:The changes in masseter EMG and biting force evoked by electrical stimulation of the lip were measured in normal people. Stimulation at noxious intensities elicited a characteristic, biphasic inhibitory response in the masseter EMG and a transient reduction in the biting force. The pattern of masseter inhibition and f...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/0003-9969(85)90083-4
更新日期：1985-01-01 00:00:00
abstract：OBJECTIVE:To determine if local, gingival crevicular fluid (GCF) levels of TGFbeta1 were altered in drug-induced gingival overgrowth. PATIENTS AND METHODS:GCF samples were collected on Periopaper strips from 45 renal transplant recipients who had been medicated with cyclosporin or cyclosporin in combination with other...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/j.archoralbio.2003.09.002
更新日期：2004-05-01 00:00:00
abstract：OBJECTIVE:To determine whether chewing side preference is related to handedness and lateral asymmetry of occlusal characteristics, muscular force and temporomandibular disorders (TMD) in a dentate population. DESIGN:One hundred and seventeen dentate adults participated in this cross-sectional study. Static and dynamic...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/j.archoralbio.2008.09.006
更新日期：2009-02-01 00:00:00
abstract：OBJECTIVE:Our goal was to study the development of pioneer sympathetic innervation of dental pulp of mouse mandibular first molar. DESIGN:We used double fluorescent immunohistochemistry with tyrosine hydroxylase (TH) and anti-medium-chain neurofilament (2H3) antibodies to detect sympathetic and sensory nerve fibres. S...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/j.archoralbio.2008.03.004
更新日期：2008-09-01 00:00:00
abstract：OBJECTIVE:To investigate the effects of mechano-growth factor E (MGF-E) peptide derived from an IGF-1 isoform on the differentiation and mineralization of osteoblasts. METHODS:MGF-E peptide corresponding to the carboxy terminal 24 amino acid peptide of human MGF was synthesized. MGF-E (1 nM) peptide was then used to t...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/j.archoralbio.2011.11.016
更新日期：2012-06-01 00:00:00
abstract：OBJECTIVE:Syndecan-1 plays an important role in cell proliferation in dental papilla during tooth development. This study aimed to clarify the transcription mechanisms that regulate syndecan-1 gene expression in dental papilla. DESIGN:We analysed genomic conservation and putative transcriptional factor binding sites o...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/j.archoralbio.2011.10.017
更新日期：2012-05-01 00:00:00
abstract：:It is known that pulpal fluid movement through dentinal tubules causes dentinal hypersensitivity and that pain can be reduced by decreasing the fluid flow. The aim of this study was to evaluate dentinal permeability and morphology after a single exposure to experimental phytocomplex substances containing oxalates. The...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/j.archoralbio.2006.02.010
更新日期：2006-08-01 00:00:00
abstract：:Macrophage inflammatory protein-3alpha (MIP-3alpha or CCL20) is an intriguing molecule in cancer immunotherapy, but MIP-3alpha expression and signalling are not well understood in oral cancer cells. We investigated CCL20 expression and signal transduction by treating immortalized human oral keratinocyte (IHOK) and ora...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/j.archoralbio.2008.01.015
更新日期：2008-09-01 00:00:00
abstract：:It is not known whether the long-term use of prosthetic or orthodontic appliances, which may be associated with fungal infections, affects Langerhans cells (LC) in the underlying mucosa. The number and distribution of LC was studied in rat palatal epithelium over a 7-day period after insertion of cover plates. Smears ...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/0003-9969(89)90112-x
更新日期：1989-01-01 00:00:00
abstract：:Transmitted and polarized light microscopy of unerupted and erupted teeth affected by a pigmented anomaly found in two geographically isolated Polynesian populations, the New Zealand Maori and the French Polynesian Marquesas Islander, showed similar histological characteristics. Mounted in water, the pigmented areas w...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/0003-9969(89)90127-1
更新日期：1989-01-01 00:00:00
abstract：:The 10,000 g supernatant of wax-stimulated whole saliva was fractionated by gel filtration and its components were tested along with amino acids, small peptides and urea for their ability to stimulate this oxygen uptake, and for their effects on pH. Fractions containing the larger components, the proteins and large pe...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/0003-9969(90)90176-b
更新日期：1990-01-01 00:00:00
abstract：:Both the mandibular condyle and the glenoid fossa remodel in response to changes in the dentition during life, although the precise relationship between teeth and joint is not clear. This study was undertaken to ascertain changes, if any, occurring in the glenoid fossae in skeletons with much tooth wear. In a collecti...
journal_title：Archives of oral biology
pub_type： 历史文章,杂志文章
doi：10.1016/0003-9969(92)90154-z
更新日期：1992-01-01 00:00:00
abstract：:There is evidence to suggest that some reimplanted and autotransplanted teeth are reinnervated, but the time-course of reinnervation and the properties and source of the reinnervating axons are not known. This reinnervation has been investigated using electrophysiological techniques in 6 adult cats. In each cat, one l...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/0003-9969(83)90172-3
更新日期：1983-01-01 00:00:00
abstract：OBJECTIVE:To investigate the effects of periodontal bacterial lysates on maturation and function of mature monocyte-derived dendritic cells (m-MDDCs) derived from individuals with chronic periodontitis (CP) or healthy periodontal tissue (HP). DESIGN:m-MDDCs derived from peripheral blood monocytes, cultured for 7 days ...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/j.archoralbio.2013.03.013
更新日期：2013-09-01 00:00:00
abstract：OBJECTIVES:Dental evolution affects the geometry of the tooth, but the adaptive relevance of these changes is related to tooth sharpness, complexity, and relief (topography). On a set of laboratory mice, we assessed how wear related to age and food consistency affected molar geometry and topography. DESIGN:Three group...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/j.archoralbio.2017.04.028
更新日期：2017-09-01 00:00:00
abstract：:Occlusal traits were determined for 47,XYY men and compared with previous determinations of occlusal morphology in other sex-chromosome anomalies and in normal women and men. The 47,XYY men, like 47,XXY men, tended to have a mesial molar occlusion and a mandibular overjet more often than did other groups, while 45,X w...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/0003-9969(92)90063-e
更新日期：1992-11-01 00:00:00
abstract：:Acarbose is known to inhibit glucoamylase, maltase and sucrase. Our aim was to test whether it would also inhibit glucosyltransferase (GTF), to determine the type of inhibition and to compare the inhibitor potency of acarbose with that of nojirimycin and deoxynojirimycin, two other glucosidase inhibitors. Enzyme inhib...
journal_title：Archives of oral biology
pub_type： 杂志文章
doi：10.1016/0003-9969(83)90186-3
更新日期：1983-01-01 00:00:00
