Annette Margaret Payne

• BSc, PhD, PGCert
• Brunel University London

Background: Metabolic syndrome (MetS) is a syndrome that comprises central obesity, increased serum triglyceride (TG) levels, decreased serum HDL cholesterol (HDL) levels, raised blood pressure (BP), and impaired glucose regulation, including prediabetic and diabetic glycaemic levels. Recently, the association with endometrial cancer (EC) has been...

Background This study investigates the association between endometrial cancer (EC) risk and features of metabolic syndrome (MetS) using the UK Biobank. Methods Univariate and multivariate analysis of EC risk and features of MetS including serum biochemistry were analysed. Subgroup analysis was also undertaken for pre- and post-menopausal participa...

Lentivirus vectors are effective for treatment of genetic disease and cancer, however, vector related insertional mutagenesis related genotoxicity is of concern and currently available safety models are not reliably predictive of safety in humans. We have developed h InGeTox as the first human in vitro platform that uses induced pluripotent stem ce...

Objectives: In this study we wished to determine the rank order of risk factors for endometrial cancer and calculate a pooled risk and percentage risk for each factor using a statistical meta-analysis approach. The next step was to design a neural network computer model to predict the overall increase or decreased risk of cancer for individual pati...

Endometrial cancer rates are increasing annually due to an aging population and rising rates of obesity. Currently there is no widely available, accurate, non-invasive test that can be used to triage women for diagnostic biopsy whilst safely reassuring healthy women without the need for invasive assessment. The aim of this systematic review and met...

Lentiviral vectors (LV) are attractive for permanent and effective gene therapy. However, integration into the host genome can cause insertional mutagenesis highlighting the importance of understanding of LV integration. Insertion site (IS) tethering is believed to involve cellular proteins such as PSIP1/LEDGF/p75, which binds to the virus pre-inte...

Osteosarcoma (OS) is the most common primary malignant bone tumour, with a high incidence rate in children and adolescents. However, knowledge surrounding the underlying mechanism(s) and novel therapeutics, require better overall understanding. One important area in need of further exploration is the tumour microenvironment, which consists of a ple...

Objectives: In this study we wished to determine the rank order of risk factors for endometrial cancer and calculate a pooled risk and percentage risk for each factor using a statistical meta-analysis approach. The next step was to design a neural network computer model to predict the overall increase or decreased risk of cancer for individual pat...

This article reports on an investigation of the effects of ‘visual arts’-based programmes on subjective well-being (SWB) outcomes for adults with mental health conditions. In a systematic review, electronic databases were searched for articles published from January 2007 to April 2017. Grey literature completed from January 2014 to April 2017 was a...

The generation of a feature matrix is the first step in conducting machine learning analyses on complex data sets such as those containing DNA, RNA or protein sequences. These matrices contain information for each object which have to be identified using complex algorithms to interrogate the data. They are normally generated by combining the result...

Friedreich’s ataxia (FRDA) is an inherited neurodegenerative disorder with the prevalence of 2–4 in every 100,000 Caucasian population. Since 2010, the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) has endeavored to define and characterize FRDA by recruiting over 940 FRDA patients to provide baseline data in 19 study si...

Friedreich's ataxia (FRDA) is a rare autosomal recessive inherited neurodegenerative disease which is the result of a triplet repeat expansion in the intronic region of the frataxin FXN gene resulting in depleted frataxin protein expression. Disease onset is usually in childhood and causes progressive damage to the nervous system resulting in progr...

Pakistan is an agricultural economy with a growing population, which always offers an excellent opportunity to grow business for everyday consumable merchandise like flour. The last few years were miserable in terms of performance (including ineffective management of resources, poor stocktaking records, inefficient staff hiring processes, and some...

Objective To review and assess effectiveness of sport and dance participation on subjective well-being outcomes among healthy young people aged 15–24 years. Design Systematic review. Methods We searched for studies published in any language between January 2006 and September 2016 on PsychINFO, Ovid MEDLINE, Eric, Web of Science (Arts and Humaniti...

Breast cancer (BC) is one of the most common cancers among women worldwide, representing the majority of new cancer cases and cancer-related deaths according to global statistics, making it a significant public health problem in today’s society. The early diagnosis of BC can improve the prognosis and chance of survival significantly, as it can prom...

Aims: The role of arts and music in supporting subjective wellbeing (SWB) is increasingly recognised. Robust evidence is needed to support policy and practice. This article reports on the first of four reviews of Culture, Sport and Wellbeing (CSW) commissioned by the Economic and Social Research Council (ESRC)-funded What Works Centre for Wellbein...

Aims: There is a growing recognition of the ways in which culture and sport can contribute to wellbeing. A strong evidence base is needed to support innovative service development and a 3-year research programme is being undertaken to capture best evidence of wellbeing impacts and outcomes of cultural and sporting activities in order to inform UK...

This study identifies common methylation patterns across different cancer types in an effort to identify common molecular events in diverse types of cancer cells and provides evidence for the sequence surrounding a CpG to influence its susceptibility to aberrant methylation. CpG sites throughout the genome were divided into four classes: sites that...

Orexins are neuropeptides that regulate the sleep-wake cycle and feeding behaviour. QRFP is a newly discovered neuropeptide which exerts similar orexigenic activity, thus playing an important role in energy homeostasis and regulation of appetite. The exact expression and signalling characteristics and physiological actions of QRFP and its receptor...

Systems biology studies the complex interactions of biological and biochemical systems rather than their individual molecular components. System biology simulations can be embarrassingly parallel jobs that have no dependency among individual simulation instances, and thus lend themselves to parallel execution over distributed resources to reduce th...

Previous studies have examined DNA methylation in different trinucleotide repeat diseases. We have combined this data and used a pattern searching algorithm to identify motifs in the DNA surrounding aberrantly methylated CpGs found in the DNA of patients with one of the three trinucleotide repeat (TNR) expansion diseases: fragile X syndrome (FRAXA)...

Change blindness is the incapability of the brain to detect substantial visual changes in the presence of other visual interruption. The objectives of this study are to examine the EEG (Electroencephalographic) based changes in functional connectivity of the brain due to the change blindness. The functional connectivity was estimated using the wave...

Pathway based microarray analysis is an effort to integrate microarray and pathway data in a holistic analytical approach, looking for coordinated changes in the expression of sets of genes forming pathways. However, it has been observed that the results produced are often cryptic, with cases of closely related genes in a pathway showing quite vari...

ABSTRACT: Gene expression analysis has been intensively researched for more than a decade. Recently, there has been elevated interest in the integration of microarray data analysis with other types of biological knowledge in a holistic analytical approach. We propose a methodology that can be facilitated for pathway based microarray data analysis,...

Laboratory classes are an essential element of most applied and basis science degree programs in university departments and have a strong impact on students' learning outcomes. Computer-based simulations of student practical classes ("virtual laboratories") can provide a cheaper and timesaving alternative to traditional practical classes and can of...

The involvement of technology to support and enhance learning is ever increasing, for example moving from the traditional blackboard to electronic whiteboards and from printed books to virtual reality training simulations and and from class room meetings to (a-)synchronised meeting over the web with handheld mobile devices. These technologies promi...

High-throughput technologies such as DNA microarray are in the process of revolutionizing the way modern biological research is being done. Bioinformatics tools are becoming increasingly important to assist biomedical scientists in their quest in understanding complex biological processes. Gene expression analysis has attracted a large amount of at...

We wished to investigate whether an e-learning approach which uses constructivist principles can be successfully applied to train employees in a highly specialised skill thought to require expert individuals and extensive prolonged training. The approach involved the development of an e-learning package which included simulations and interactivity,...

To analyze epigenetic regulation of two related genes, insulin-like growth factor binding protein-related protein 1 (IGFBP-rP1) and IGFBPL1, and its significance as a determinant of clinical phenotypes in human breast cancer. We have investigated the expression and epigenetic regulation of IGFBP-rP1 and IGFBPL1 in human breast cancer cell lines and...

The use of computer applications to support learning and assessment is becoming more common, along with a growing body of research focusing on the pedagogical effectiveness of these applications. However, until recently less research attention has been given to the design of learning technology with regard to their usability, actual use, and the wa...

Biology has been revolutionised by microarrays and bioinformatics is now a powerful tool in the hands of biologists. Gene expression analysis is at the centre of attention over the last few years mostly in the form of algorithms, exploring cluster relationships and dynamic interactions between gene variables, and programs that try to display the mu...

To describe the phenotype of Leber congenital amaurosis (LCA) in 26 probands with mutations in aryl hydrocarbon receptor interacting protein-like 1 protein (AIPL1) and compare it with phenotypes of other LCA-related genes. To describe the electroretinogram (ERG) in heterozygote carriers. Patients with AIPL1-related LCA were identified in a cohort o...

Laboratory classes are commonplace and essential in biology departments but can sometimes be cumbersome, unreliable, and a drain on time and resources. As university intakes increase, pressure on budgets and staff time can often lead to reduction in practical class provision. Frequently, the ability to use laboratory equipment, mix solutions, and m...

We previously reported an Ser50Thr mutation in the NRL gene as a cause of autosomal dominant retinitis pigmentosa. To determine the characteristic features of the autosomal dominant retinitis pigmentosa phenotype associated with the NRL Ser50Thr mutation in affected individuals from 4 related families. Clinical records were available for 21 affecte...

A range of cone and cone-rod dystrophies (CORD) have been observed in man, caused by mutations in retinal guanylate cyclase 1 (RetGC1) and guanylate cyclase activating protein 1 (GCAP 1). The CORD causing mutations in RetGC1 are located at a mutation "hot spot" within the dimerisation domain, where R838 is the key residue. Three disease causing mut...

To describe the phenotype in 4 families with dominantly inherited cone-rod dystrophy, 1 with an R838C mutation and 1 with an R838H mutation in the guanylate cyclase 2D (GUCY2D) gene encoding retinal guanylate cyclase-1. Psychophysical and electrophysiological evaluation and confocal laser scanning ophthalmoscopic imaging was performed on 10 affecte...

Editor—Guanylate cyclase (retGC-1) is a key enzyme in the recovery phase of phototransduction in both cone and rod photoreceptor cells.1 Upon excitation by a photon of light, an enzymatic cascade of events occurs which leads to the hydrolysis of cGMP and the closure of the cGMP gated cation channels. This results in hyperpolarisation of the plasma...

To map the disease locus in a six-generation, consanguineous Pakistani family affected by nonsyndromic autosomal recessive persistent hyperplastic primary vitreous (arPHPV). All affected individuals had peripheral anterior synechiae and corneal opacities with variable degrees of cataract and a retrolenticular white mass behind the lens. Genomic DNA...

To map the disease locus in a six-generation, consanguineous Pakistani family with autosomal recessive retinitis pigmentosa (arRP). All affected individuals had pigmentary retinopathy associated with symptoms of night blindness and the loss of peripheral visual fields by the age of 20 years, loss of central vision between the ages of 25 and 30 year...

Usher syndrome (USH) is a combination of a progressive pigmentary retinopathy, indistinguishable from retinitis pigmentosa, and some degree of sensorineural hearing loss. USH can be subdivided in Usher type I (USHI), type II (USHII) and type III (USHIII), all of which are inherited as autosomal recessive traits. The three subtypes are genetically h...

To describe the phenotype in 3 families with dominantly inherited cone and cone-rod dystrophy with mutations in guanylate cyclase activator 1A (GUCA1A), the gene-encoding guanylate cyclase activator protein-1 (GCAP-1). Phenotypic characterization with psychophysical and electrophysiological evaluation and confocal laser scanning ophthalmoscopy was...

Recent reports have shown that the autosomal dominant retinitis pigmentosa (adRP) phenotype linked to the pericentric region of chromosome 8 is associated with mutations in a gene designated RP1. Screening of the whole gene in a large cohort of patients has not been undertaken to date. To assess the involvement and character of RP1 mutations in adR...

Nearly 100 mutations in the rhodopsin gene have been described in association with autosomal dominant retinitis pigmentosa (ADRP), autosomal recessive retinitis pigmentosa (ARRP) and congenital stationary night blindness (CSNB), a nonprogressive disease. Additionally, mutations in the rhodopsin gene have been observed in patients with sectorial ret...

To map the disease locus of a two-generation, consanguineous Pakistani family with autosomal recessive cone-rod dystrophy (arCRD). All affected individuals had night blindness, deterioration of central vision, photophobia, epiphora in bright light, and problems with color distinction. Fundoscopy revealed marked macular degeneration and attenuation...

The forkhead transcription factor gene FOXC1 (formerly FKHL7) is responsible for a number of glaucoma phenotypes in families in which the disease maps to 6p25, although mutations have not been found in all families in which the disease maps to this region. In a large pedigree with iris hypoplasia and glaucoma mapping to 6p25 (peak LOD score 6.20 [r...

The aim of this work was to identify NRL mutations in a panel of 200 autosomal dominant retinitis pigmentosa (adRP) families. All samples were subjected to heteroduplex analysis of the three exons of the NRL gene, and HphI restriction digest analysis of exon 2 (to identify the S50T mutation). Families found to have the S50T mutation, and six additi...

To describe the clinical and genetic findings in a family with multiple cases of cavernous hemangiomas. Investigational clinical and genetic study in which 3 generations of a family consisting of 12 members were screened with magnetic resonance brain imaging, dilated ophthalmoscopic examination, and cutaneous survey coupled with linkage analysis to...

Leber congenital amaurosis (LCA, MIM 204000) accounts for at least 5% of all inherited retinal disease 1 and is the most severe inherited retinopathy with the earliest age of onset 2. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat...

Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy and the most frequent cause of inherited blindness in children. LCA is usually inherited in an autosomal recessive fashion, although rare dominant cases have been reported. One form of LCA, LCA4, maps to chromosome 17p13 and is genetically distinct from other fo...

Editor—Retinitis pigmentosa (RP, MIM 268000) is the term applied to a clinically and genetically heterogeneous group of retinal degenerations primarily affecting the rod photoreceptors. RP is characterised by progressive loss of vision, initially manifesting as night blindness and reduction in the peripheral visual field, and later involving loss o...

Meeting Abstract: 1025B400

A two-generation consanguineous Pakistani family with autosomal recessive Leber congenital amaurosis (LCA, MIM 204,000) and keratoconus was identified. All affected individuals have bilateral keratoconus and congenital pigmentary retinopathy. The goal of this study was to link the disease phenotype in this family. Genomic DNA was amplified across t...

Several reports have shown that mutations in the ABCR gene can lead to Stargardt disease (STGD)/fundus flavimaculatus (FFM), autosomal recessive retinitis pigmentosa (arRP), and autosomal recessive cone-rod dystrophy (arCRD). To assess the involvement of ABCR in these retinal dystrophies, the gene was screened in a panel of 70 patients of British o...

Leber congenital amaurosis (LCA, MIM 204000) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat elec...

To report the phenotype associated with the codon 172 RDS (gene for retinal degeneration slow) mutation in 11 separate families with an arginine-to-tryptophan substitution with common ancestry, and 1 family with an arginine-to-glutamine transition. Screening for RDS gene mutations was performed in 400 subjects with autosomal dominant retinal degene...

Retinitis pigmentosa (RP) comprises a clinically and genetically heterogeneous group of diseases that afflicts approximately 1.5 million people worldwide. Affected individuals suffer from a progressive degeneration of the photoreceptors, eventually resulting in severe visual impairment. To isolate candidate genes for chorioretinal diseases, we clon...

The guanylate cyclase activator proteins (GCAP1 and GCAP2) are calcium binding proteins which by activating Ret-GC1 play a key role in the recovery phase of phototransduction. Recently a mutation in the GUCA1A gene (coding for GCAP1) mapping to the 6p21.1 region was described as causing cone dystrophy in a British family. In addition mutations in R...

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Congenital microphthalmia (OMIM: 309700) may occur in isolation or in association with a variety of systemic malformations. Isolated microphthalmia may be inherited as an autosomal dominant, an autosomal recessive, or an X linked trait. Based on a whole genome linkage analysis, in a six generation consanguineous family with autosomal recessive inhe...

Lithuanian patients with visual problems were clinically examined for retinitis pigmentosa (RP). A total of 33 unrelated families with autosomal dominant RP (adRP) were identified. Screening for mutations in the rhodopsin (RHO) and peripherin/RDS (RDS) genes was performed using DNA heteroduplex analysis. Direct DNA sequencing in the cases of hetero...

Mutations in the rhodopsin gene are reported to be responsible for approximately 25% of all cases of autosomal dominant Retinitis pigmentosa (adRP). Affected individuals from a large family with an unusually severe form of adRP were screened for mutations in the rhodopsin gene. Direct sequencing of exon 5 revealed a TAA to GAA transversion at nucle...

Lithuanian patients with visual problems were clinically examined for retinitis pigmentosa (RP). Out of more than 70 clinically and genealogically tested patients with familial retinal degenerations, 33 unrelated families with autosomal dominant RP (adRP) were identified. Screening for mutations in the rhodopsin (RHO) and polymorphisms in the perip...

Autosomal dominant optic atrophy (OPA1) maps to Chromosome (Chr) 3q28, and the disease interval has been refined to within 1.4 cM, flanked by the markers D3S3669 and D3S3562. HRY, the human homolog of the Drosophila segmentation gene, hairy, maps by in situ hybridization to the chromosomal region 3q28-q29. We screened for mutations in HRY in 36 pat...

Usher syndrome (USH) is characterised by congenital sensorineural hearing loss and progressive pigmentary retinopathy. All three subtypes (USH1, USH2, and USH3) are inherited as recessive traits. People with Usher type 2 (USH2) have normal vestibular responses and moderate to severe hearing loss. These syndromes have been found to be genetically he...

GCAP1 stimulates photoreceptor guanylate cyclase (GC) in bleached vertebrate photoreceptors when [Ca2+]free decreases but is inactivated when cytoplasmic [Ca2+]free increase after dark adaptation. A Y99C mutation in GCAP1 has recently been found to be associated with autosomal dominant cone dystrophy. We show that the GCAP1(Y99C) mutant and native...

The dominant cone-rod dystrophy gene CORD6 has previously been mapped to within an 8 cM interval on chromosome 17p12-p13. The retinal-specific guanylate cyclase gene (RETGC-1), which maps to within this genetic interval and previously was implicated in Leber's congenital amaurosis, was screened for mutations within this family and in a panel of sma...

Retinal photoreceptor dystrophies (RD) are a highly heterogeneous group of genetic disorders of the retina, representing the most frequently inherited form of visual handicap, affecting approximately 1.5 million people world wide. To date, more than 40 genetic loci have been implicated in RD. One of them, the CORD2 locus, for an autosomal dominant...

Congenital microphthalmia (CMIC) (OMIM 309700) may occur in isolation or in association with a variety of systemic malformations. Isolated CMIC may be inherited as an autosomal dominant, an autosomal recessive, or an X-linked trait. On the basis of a whole-genome linkage analysis, we have mapped the first locus for isolated CMIC, in a five-generati...

Guidelines for submitting commentsPolicy: Comments that contribute to the discussion of the article will be posted within approximately three business days. We do not accept anonymous comments. Please include your email address; the address will not be displayed in the posted comment. Cell Press Editors will screen the comments to ensure that they...

We report a mutation (Y99C) in guanylate cyclase activator 1A (GUCA1A), the gene for guanylate cyclase activating protein (GCAP1), in a family with autosomal dominant cone dystrophy. Linkage analysis excluded all the known cone and cone-rod dystrophy loci, except the chromosome 6p21.1 region. This is known to contain the RDS gene, which is associat...

Purpose. To characterise the nature, clinical affect and prevalence of peripherin/RDS mutations in patients with autosomal dominant pattern dystrophy. Methods. Thirty families expressing the autosomal dominant pattern dystrophy phenotype were screened for mutations in the coding region of the peripherin/RDS gene. Genomic DNA was isolated and amplif...

The recent determination of the genomic sequence of human caldesmon indicates that eight caldesmon mRNA species could be generated by selection of exon 1 or 1', exon 3a or 3ab and/or exon 4. We used reverse transcriptase PCR to determine which transcripts were produced in human, rabbit and sheep artery, vein, lung, intestine, kidney and liver. In a...

Nucleated cells other than sperm (NCOS) were isolated from human semen by centrifugation on a Ficoll density gradient. Using tissue-specific monoclonal antibodies (mAb) greater than 99% of the NCOS were found to be sperm cell precursors (SpP). These cells were tested for the expression of class I and II (DR, DP and DQ) HLA antigens by using specifi...