A5066784907- Bone and Dental Protein Studies
- dental development and anomalies
- Dental Education, Practice, Research
- Oral and Maxillofacial Pathology
- Cell Adhesion Molecules Research
- Oral microbiology and periodontitis research
- Oral Health Pathology and Treatment
- Periodontal Regeneration and Treatments
- Soft tissue tumor case studies
- Congenital heart defects research
- Oral and gingival health research
- Healthcare Systems and Technology
- Salivary Gland Tumors Diagnosis and Treatment
- Proteoglycans and glycosaminoglycans research
- Oral and Craniofacial Lesions
- Connective tissue disorders research
- Neurofibromatosis and Schwannoma Cases
- Salivary Gland Disorders and Functions
- Ubiquitin and proteasome pathways
- Dental Research and COVID-19
- IgG4-Related and Inflammatory Diseases
- Cancer-related gene regulation
- Diversity and Career in Medicine
- Clinical practice guidelines implementation
- Infant Nutrition and Health
University of Leeds
2015-2024
University of Manchester
2022
St James's University Hospital
2005-2021
Leeds Dental Hospital
2005-2020
Wellcome Trust
2017
University Dental Hospital of Manchester
2014
Sunderland Royal Hospital
1994-1996
Real-time PCR is increasingly being adopted for RNA quantification and genetic analysis. At present the most popular real-time assay based on hybridisation of a dual-labelled probe to product, development signal by loss fluorescence quenching as degrades probe. Though this so-called 'TaqMan' approach has proved easy optimise in practice, probes are relatively expensive.We have designed new SYBR-Green I binding that quick, reliable, easily optimised compares well with published assay. Here we...
The combination of recessively inherited cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI) was first reported by Jalili Smith in 1988 a family subsequently linked to locus on chromosome 2q11, it has since been second small family. We have identified five further ethnically diverse families cosegregating CRD AI. Phenotypic characterization teeth visual function the published new reveals consistent syndrome all seven families, link or are with linkage confirming existence genetically...
Healthy dental enamel is the hardest and most highly mineralized human tissue. Though acellular, nonvital, without capacity for turnover or repair, it can nevertheless last a lifetime. Amelogenesis imperfecta (AI) collective term failure of normal development, covering diverse clinical phenotypes that typically show Mendelian inheritance patterns. One subset, known as hypomaturation AI, characterised by near-normal volumes organic matrix but with weak, creamy-brown opaque fails prematurely...
Amelogenesis imperfecta (AI) describes a heterogeneous group of inherited dental enamel defects reflecting failure normal amelogenesis. Ameloblastin (AMBN) is the second most abundant matrix protein expressed during The pivotal role AMBN in amelogenesis has been confirmed experimentally using mouse models. However, no mutations have associated with human AI. Using autozygosity mapping and exome sequencing, we identified genomic deletion exon 6 cousin consanguineous family three six children...
A combination of autozygosity mapping and exome sequencing identified a null mutation in SLC24A4 family with hypomineralized amelogenesis imperfect (AI), condition which tooth enamel formation fails. encodes calcium transporter upregulated ameloblasts during the maturation stage amelogenesis. Screening further AI families missense ion-binding site expected to severely diminish or abolish ion transport function protein. Furthermore, examination previously generated Slc24a4 mice severe defect...
<b><i>Background/Aims:</i></b> Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity movement of this ion. Disruption these in kidney results nephrocalcinosis nephrolithiasis, important medical problems whose pathogenesis is incompletely understood. <b><i>Methods:</i></b> We investigated 25 patients from 16 families with unexplained characteristic dental defects (amelogenesis imperfecta,...
Amelogenesis is the process of dental enamel formation, leading to deposition hardest tissue in human body. This requires intricate regulation ion transport and controlled changes pH developing matrix. The means by which organ regulates during amelogenesis largely unknown. We identified rare homozygous variants GPR68 three families with imperfecta, a genetically phenotypically heterogeneous group inherited conditions associated abnormal formation. Each these (a large in-frame deletion,...
Raine syndrome (RS) is a rare autosomal recessive bone dysplasia typified by osteosclerosis and dysmorphic facies due to FAM20C mutations. Initially reported as lethal in infancy, survival possible into adulthood. We describe the molecular analysis clinical phenotypes of five individuals from two consanguineous Brazilian families with attenuated Syndrome previously unreported features.The medical dental records were reviewed. Extracted deciduous permanent teeth well oral soft tissues...
The conventional approach to identifying the defective gene in a family with an inherited disease is find locus through studies. However, rapid development and decreasing cost of next generation sequencing facilitates more direct approach. Here, we report identification frameshift mutation LAMB3 as cause dominant hypoplastic amelogenesis imperfecta (AI). Whole-exome three affected members subsequent filtering shared variants, without prior genetic linkage, sufficed identify pathogenic...
Heimler syndrome (HS) consists of recessively inherited sensorineural hearing loss, amelogenesis imperfecta (AI) and nail abnormalities, with or without visual defects. Recently HS was shown to result from hypomorphic mutations in PEX1 PEX6, both previously implicated Zellweger Syndrome Spectrum Disorders (ZSSD). ZSSD are a group conditions consisting craniofacial neurological sensory defects multi-organ dysfunction. The finding HS-causing PEX6 shows that represents the mild end spectrum,...
We identified a family in which pitted hypomineralized amelogenesis imperfecta (AI) with premature enamel failure segregated an autosomal recessive fashion. Whole-exome sequencing revealed missense mutation (c.586C>A, p.P196T) the I-domain of integrin-β6 (ITGB6), is consistently predicted to be pathogenic by all available programmes and only variant that segregates disease phenotype. Furthermore, recent study mice lacking functional allele Itgb6 display hypomaturation AI Phenotypic...
The aim of this study was to characterise plasma cell infiltrates, in terms IgG4 positivity, specific and non-specific cell-rich chronic inflammatory conditions the oral mucosa. Exploring possibility that have association with or represent an manifestation immunoglobulin G4-related disease (IgG4-RD).Ten patients mucosa were identified (seven--plasma mucositis three--non-specific diffuse mucosal inflammation ulceration). For each patient, clinical record H&E-stained sections reviewed....
Amelogenesis imperfecta (AI) is a heterogeneous group of genetic conditions that result in defective dental enamel formation. Amelotin (AMTN) secreted protein thought to act as promoter matrix mineralization the final stage development, and strongly expressed, almost exclusively, maturation ameloblasts. Amtn overexpression knockout mouse models have with no other associated phenotypes, highlighting AMTN an excellent candidate gene for human AI. However, mutations yet been Using whole exome...
Abstract Background Oral lichen planus (OLP) is a chronic inflammatory disorder of the oral mucosa. Currently there no approved treatment for OLP. We report on efficacy and safety novel mucoadhesive clobetasol patch (Rivelin ® ‐CLO) Methods Patients with confirmed OLP measurable symptomatic ulcer(s) participated in randomized, double‐blind, placebo‐controlled, multicenter clinical trial testing across Europe, Canada, United States. were randomized to placebo (nonmedicated), 1, 5, 20 µg...
Nonsense mutations in FAM83H are a recently described underlying cause of autosomal dominant (AD) hypocalcified amelogenesis imperfecta (AI).
Tenascin-C is a mosaic, linear glycoprotein that up-regulated during many normal and pathological processes involving either cell migration or tissue morphogenesis, such as invasion of malignant cells wound healing. Human tenascin-C contains 8 consecutive type III fibronectin (TNCfn) domains are involved in alternative splicing potentially generate large number isoforms code for proteins with subtly different functions. splice variants were investigated by RT-PCR range oral mucosal tissues....
<i>Background:</i>Mutations in <i>WDR72</i> have been identified autosomal recessive hypomaturation amelogenesis imperfecta (AI). <i>Objective:</i> to describe a novel mutation and report the ultrastructural enamel phenotype associated with different WDR72 mutation. <i>Methods:</i> A family segregating AI was recruited, genomic DNA obtained <i>WDR72 </i>sequenced. Four deciduous teeth from one individual previously published...