Abstract:
INTRODUCTION:Hypohidrotic ectodermal dysplasia (HED) is a human heritable disorder characterized by sparse hair, reduced ability to sweat and hypodontia. The HED exhibits X-linked, autosomal recessive and autosomal dominant mode of inheritance. Mutations in four genes including EDA, EDAR, EDARADD, and WNT10A are known to cause hypohidrotic and anhidrotic ectodermal dysplasia. MATERIALS AND METHODS:Genotyping of both affected and normal individuals of two consanguineous Pakistani families (A, B), showing autosomal recessive HED, was carried out using microsatellite markers linked to EDAR gene on chromosome 2q11-q13. To screen for mutations in the gene EDAR, all of its exons and splice junction were amplified and sequenced directly, using an automated DNA sequencer. RESULTS:Genotyping using microsatellite markers analysis showed linkage of the two families to gene EDAR on chromosome 2q11-2q13. Subsequently, screening of all the 12 exons and splice junctions of gene EDAR revealed a novel missense mutation (c.1163T>C; p.Ile388Thr) in family A and a novel insertion mutation (c.1014insA; p.V339SfsX6) in family B. CONCLUSION:Our findings extend the body of evidence supporting the role of EDAR signaling pathway as a powerful regulator of development of ectodermal appendages.
journal_name
Orthod Craniofac Resjournal_title
Orthodontics & craniofacial researchauthors
Naqvi SK,Wasif N,Javaid H,Ahmad Wdoi
10.1111/j.1601-6343.2011.01521.xsubject
Has Abstractpub_date
2011-08-01 00:00:00pages
156-9issue
3eissn
1601-6335issn
1601-6343journal_volume
14pub_type
杂志文章abstract:OBJECTIVES:Literature is poor of data about the occlusion in children affected by neurofibromatosis type 1 (NF1). This case-control study investigated the occlusal traits in a group of children with NF1. SETTING AND SAMPLE POPULATION:A hundred and fifteen children with NF1 were enrolled; non-NF1 controls were sequenti...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章
doi:10.1111/ocr.12108
更新日期:2016-02-01 00:00:00
abstract:OBJECTIVES:The purpose of this study was to investigate the effects of reduced masticatory function on midline suture growth and morphology in growing pigs. SETTING AND SAMPLE POPULATION:The sample was 20 pigs separated into two dietary groups and raised at the Department of Anthropology, Harvard University. Midline s...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章
doi:10.1111/j.1601-6343.2010.01483.x
更新日期:2010-05-01 00:00:00
abstract::The skin and the oral mucosa act as a barrier against the external environment. Loss of this barrier function causes dehydration and a high risk of infection. For the treatment of extensive skin wounds such as in severe burns, autologous skin for transplantation is often not available in sufficient amounts. Reconstruc...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章,评审
doi:10.1111/j.1601-6343.2009.01475.x
更新日期:2010-02-01 00:00:00
abstract::The objective of the study was to provide a comprehensive review of the literature describing research done on the stability, adaptation and growth of craniofacial structures following distraction osteogenesis (DO). The design of the study was a literature review of clinical and experimental studies using electronic s...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章,评审
doi:10.1111/j.1601-6343.2009.01452.x
更新日期:2009-08-01 00:00:00
abstract::In cranial sutural samples derived from five children with premature cranial suture fusion we have performed immunostaining for the urokinase plasminogen activator (uPA) and urokinase receptor (uPAR). We have found a strong reactivity for cell- or matrix-bound uPA and uPAR in the sutural connective tissue and associat...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章
doi:10.1034/j.1600-0544.2002.50101.x
更新日期:2002-02-01 00:00:00
abstract:OBJECTIVES:Three-dimensional evaluation of skeletal mandibular changes following Herbst appliance treatment. SETTING AND SAMPLE POPULATION:Retrospective case-control study, based on a sample size calculation. Twenty-five pubertal patients treated with Herbst appliance (HAG), and 25 matched Class II patients who receiv...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章
doi:10.1111/ocr.12154
更新日期:2017-05-01 00:00:00
abstract:AIMS AND OBJECTIVES:Documentation of dental and orthodontic implications of osteoglophonic dysplasia (OGD). SETTINGS AND PARTICIPANTS:Case report describing oral and dental manifestations of a female with OGD, aged 39 years, who was first documented three decades ago. RESULTS:This rare genetic disorder manifests with...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章
doi:10.1111/j.1601-6343.2006.00369.x
更新日期:2006-08-01 00:00:00
abstract:OBJECTIVES:To evaluate cephalometrically craniofacial morphology in children with operated sagittal synostosis and to compare the findings with age- and sex-matched controls. SETTING AND SAMPLE POPULATION:Forty-two children (37 boys) with operated primary sagittal synostosis were compared retrospectively with age- and...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章
doi:10.1111/ocr.12056
更新日期:2015-02-01 00:00:00
abstract::This essay briefly considers some underlying concerns about the direction of clinical research in orthodontics. The field is viewed from a personal perspective as things are now, as they are becoming, and as I believe they should be. ...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章
doi:10.1111/j.1601-6343.2004.00292.x
更新日期:2004-08-01 00:00:00
abstract:OBJECTIVES:To assess total Streptococci (TS) counts and biofilm mass over tooth-tissue-borne palatal expander (TTBPE), as well as the effect of chlorhexidine (CHX) mouth rinse on these variables. DESIGN:A cross-sectional study design employed clinical procedures and laboratorial techniques. SETTING AND SAMPLE POPULAT...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1601-6343.2007.00418.x
更新日期:2008-08-01 00:00:00
abstract:OBJECTIVES:To measure skull thickness in a group of subjects with skeletal Class II and a group with skeletal Class III malocclusion and compare these results with a group with Class I occlusion. SETTING AND SAMPLE POPULATION:Department of Orthodontics, School of Dentistry, University of Copenhagen. The Class II group...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章
doi:10.1111/j.1601-6343.2008.00434.x
更新日期:2008-11-01 00:00:00
abstract::Advances in precision medicine portend similar progress in orthodontics and will be increasingly harnessed to achieve customized treatment approaches and enhance treatment efficiencies. Our goal is to provide a background on emerging advances in computer technologies and biomedicine and highlight their current and lik...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章,评审
doi:10.1111/ocr.12171
更新日期:2017-06-01 00:00:00
abstract::We have developed a cone beam X-ray computed tomography (CT) system to make more accurate three-dimensional (3-D) images for diagnosis of dento-maxillofacial region. The developed system has sufficient spatial resolution, resolution of 3-D images and image distortion for diagnosis of dentomaxillofacial region. ...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章
doi:10.1034/j.1600-0544.2003.249.x
更新日期:2003-01-01 00:00:00
abstract:OBJECTIVE:The role of oestrogen in craniofacial growth still remains unclear. Therefore, the present study aimed to assess the effect of oestrogen deficiency on maxilla and mandible dimensions. SETTING AND SAMPLE POPULATION:The study was conducted at the Department of Pediatric Dentistry at the School of Dentistry of ...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章
doi:10.1111/ocr.12376
更新日期:2020-08-01 00:00:00
abstract:OBJECTIVES:To study the efficacy of tenoxicam for pain control, its potential for preemptive analgesia, and its influence on the orthodontic movement of upper canine teeth. DESIGN:This was a randomized controlled double-blind cross-over study. The patients were divided into three groups. Two groups received tenoxicam ...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1601-6343.2008.01432.x
更新日期:2009-02-01 00:00:00
abstract:OBJECTIVES:Basic research concerning craniofacial development presently runs along two pathways, namely the molecular and the morphometric. This gap needs to be bridged. DESIGN:Using histological serial sections of human fetuses computer-aided three-dimensional reconstructions were made (Software Analysis, SIS) with s...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章
doi:10.1034/j.1600-0544.2003.240.x
更新日期:2003-01-01 00:00:00
abstract:OBJECTIVES:Relapse of teeth that have moved during orthodontic treatment is a major clinical issue with respect to the goals of successful treatment. Such relapse is a physiologic response of the supporting tissues to application of force, and is mainly attributed to occlusal instability and increased mechanical tensio...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章
doi:10.1111/j.1601-6343.2009.01463.x
更新日期:2009-11-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to assess the stability of Natural Head Position (NHP) over time using the 3dMDface System. SETTING AND SAMPLE POPULATION:This was an experimental study. Three-dimensional facial images of 40 students were captured on two different occasions, with an interval of at least two weeks. ...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章
doi:10.1111/ocr.12344
更新日期:2020-02-01 00:00:00
abstract:INTRODUCTION:Functional appliances lead, in different degrees, to loss of anchorage in the lower arch. By anchoring them to the mandibular bone, any dental side effects may be avoided and the skeletal effect enhanced. Stability of bone-borne fixation would be affected by forces created by the pull of the masticatory mu...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章
doi:10.1111/ocr.12004
更新日期:2013-02-01 00:00:00
abstract:OBJECTIVES:To develop a clinical practice guideline (CPG) for orthodontic retention (OR). MATERIALS AND METHODS:The CPG was developed according to the AGREE II instrument and EBRO (Dutch methodology for evidence-based guideline development). Reporting was done according the RIGHT statement. A Task Force developed clin...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章,评审
doi:10.1111/ocr.12302
更新日期:2019-05-01 00:00:00
abstract:OBJECTIVES:Bone repair strategies continue to be developed for alternatives to autografting, allogeneic implants of banked bone, and other bone substitutes. Efforts have included the delivery of potent growth and/or differentiation factors and the use of gene therapy. For bone regeneration, gene therapy is the delivery...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章
doi:10.1111/j.1601-6343.2005.00332.x
更新日期:2005-08-01 00:00:00
abstract:OBJECTIVE:To compare the concentration of nickel, chromium and cobalt in oral mucosa cells of patients with and without fixed orthodontic appliances. MATERIALS AND METHODS:A total of 60 patients were included in this study. The control group consisted of 30 patients without any type of fixed orthodontic appliances or ...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章
doi:10.1111/j.1601-6343.2008.00414.x
更新日期:2008-02-01 00:00:00
abstract:OBJECTIVES:To evaluate the reliability of a new technique for measuring 3D-scanned orthodontic cast models with cross-section planes using teledent, a new software, developed at Technion - for the purpose of this research. EXPERIMENTAL VARIABLE:Thirty orthodontic plaster models were divided into three equal groups acc...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章
doi:10.1111/j.1601-6343.2007.00417.x
更新日期:2008-05-01 00:00:00
abstract:OBJECTIVE:To determine the levels of the receptor activator of NFkB ligand (RANKL) and osteoprotegerin (OPG) in the gingival crevicular fluid (GCF) during orthodontic tooth movement. A second objective was to investigate the effect of compression force on RANKL and OPG production from human periodontal ligament (hPDL) ...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章
doi:10.1111/j.1601-6343.2006.00340.x
更新日期:2006-05-01 00:00:00
abstract:OBJECTS:Isolated cleft palate (CPO) is the rarest form of oral clefting affecting 1-25 per 10 000 newborns worldwide. There is increasing evidence for the different pathogenetic backgrounds of CPO and cleft lip with or without cleft palate. The role of environmental factors in the origin of non-syndromic and syndromic ...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章
doi:10.1111/ocr.12361
更新日期:2020-05-01 00:00:00
abstract:OBJECTIVE:The aim of this case-control study was to investigate the association between non-syndromic hypodontia and nineteen common variants of candidate genes ectodysplasin A (EDA), paired box 9 (PAX9), msh homeobox 1 (MSX1) and axis inhibition protein 2 (AXIN2). SETTINGS AND SAMPLE POPULATION:Sixty-one hypodontia c...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章
doi:10.1111/ocr.12419
更新日期:2021-02-01 00:00:00
abstract:OBJECTIVES:Recurrence of cranial bone fusion following surgical resection in craniosynostosis patients commonly requires additional surgical procedures. Surgical implantation of engineered 3D scaffolds that control tissue mineralization could be utilized to diminish recurrence of fusion. This study investigated the abi...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章
doi:10.1111/ocr.12159
更新日期:2017-06-01 00:00:00
abstract:OBJECTIVES:To explore centre-level variation in otitis media with effusion (OME), hearing loss and treatments in children in Cleft Care UK (CCUK) and to examine the association between OME, hearing loss and developmental outcomes at 5 and 7 years. SETTING AND SAMPLE POPULATION:Two hundred and sixty-eight 5-year-old Br...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章
doi:10.1111/ocr.12184
更新日期:2017-06-01 00:00:00
abstract:OBJECTIVES:To examine the potential role of next-generation sequencing (NGS) and genetic testing to guide preventive care in dental enamel disorders using publicly available databases to access the frequency of deleterious alleles in AMTN, AMLEX and ENAM, associated with amelogenesis imperfecta (AI). SETTING AND SAMPL...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章
doi:10.1111/ocr.12266
更新日期:2019-05-01 00:00:00
abstract:OBJECTIVES:To study treatment-related factors for external root resorption during orthodontic tooth movement. DESIGN:An experimental animal study. SETTING AND SAMPLE POPULATION:Department of Orthodontics and Oral Biology, University Medical Centre Nijmegen, The Netherlands. Twenty-four young adult beagle dogs. EXPER...
journal_title:Orthodontics & craniofacial research
pub_type: 杂志文章
doi:10.1111/j.1601-6343.2004.00283.x
更新日期:2004-05-01 00:00:00