A5101527255- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Pluripotent Stem Cells Research
- Genomic variations and chromosomal abnormalities
- Renal and related cancers
- RNA regulation and disease
- RNA Research and Splicing
- RNA and protein synthesis mechanisms
- Animal Genetics and Reproduction
- Adenosine and Purinergic Signaling
- Neurobiology and Insect Physiology Research
- Cancer Genomics and Diagnostics
- Nerve injury and regeneration
- Immunodeficiency and Autoimmune Disorders
- Liver physiology and pathology
- Wnt/β-catenin signaling in development and cancer
- Scoliosis diagnosis and treatment
- Cancer-related gene regulation
- Monoclonal and Polyclonal Antibodies Research
- RNA modifications and cancer
- Signaling Pathways in Disease
- Silk-based biomaterials and applications
- Sports injuries and prevention
- Urological Disorders and Treatments
- Shoulder Injury and Treatment
University of Manchester
2012-2023
St Mary's Hospital
2011-2023
Manchester University NHS Foundation Trust
2016-2023
Genomics (United Kingdom)
2023
Baylor College of Medicine
2023
College of New Jersey
2022
Manchester Academic Health Science Centre
2010-2021
University of Warwick
1995-2021
St. Mary's Hospital
2010-2021
St Mary's Hospital
2010-2021
The purpose of this pictorial essay is to illustrate the radiologic spectrum imaging findings neuropathic osteoarthropathy. Typical include joint destruction, disorganization, and effusion with osseous debris. A variety other related osteoarthropathy such as resorption ends tubular bones fracture are shown. two prevailing theories for pathophysiology bone disease, neurovascular neurotraumatic theories, briefly described. Examples from diverse causes presented including syringomyelia, spinal...
The POU domain transcription factor Pou3f1 (Oct6/Scip/Tst1) initiates the transition from ensheathing, promyelinating Schwann cells to myelinating cells. Axonal and other extracellular signals regulate Oct6 expression through cell enhancer (SCE), which is both required sufficient drive all aspects of in Thus, SCE pivotal gene regulatory network that governs onset myelin formation provides a link between promoting signaling activation myelin-related transcriptional network. In this study, we...
Recessive forms of congenital ichthyosis encompass a group rare inherited disorders keratinization leading to dry, scaly skin. So far, 13 genes have been implicated, but there is paucity data on genotype–phenotype correlation in some populations. We compiled an English cohort 146 individuals with recessive and assessed correlation. Deep phenotyping was undertaken by history‐taking clinical examination. DNA screened for mutations using next‐generation sequencing gene panel Sanger sequencing....
The development of computational methods to assess pathogenicity pre-messenger RNA splicing variants is critical for diagnosis human disease. We assessed the capability eight algorithms, and a consensus approach, prioritize 249 uncertain significance (VUSs) that underwent functional analyses. algorithms differentiate VUSs away from immediate splice site as being 'pathogenic' or 'benign' likely have substantial impact on diagnostic testing. show SpliceAI best single strategy in this regard,...
Abstract The IL-10 gene and homologs IL-19, IL-20, IL-24 are expressed within a highly conserved 145-kb cytokine cluster. Like the Th2 IL-4 cluster, it is feasible that there coordinate regulation of these cytokines by distal regulatory elements spanning locus. We initiated search to characterize family locus present data herein on 40-kb region between IL-19 genes. map location 17 DNase I-hypersensitive sites in different murine T cell populations identify three enhancer elements, which...
ABSTRACT A monoclonal antibody, 2G9, has been identified and characterised as a marker of neural differentiation in Xenopus. The epitope is present throughout the adult central nervous system peripheral nerves. Staining first detected embryos at stage 21 thoracic region. By 29 it stains whole system, except tail tip. 65K Mr protein, includes sialic acid. antibody also reacts with tissue mice axolotls newts. 2G9 was used to show that both notochord somites are capable induction, stimulus late...
VOICE Credit: This activity has been approved for 1.0 (Category A) credit. For CE credit, participants can access this on page 17A or the SNM Web site (http://www.snm.org/ce_online) through December 31, 2012. You must answer 80% of questions correctly to receive CEH (Continuing Education Hour)
Delineating the genetic causes of developmental disorders is an area active investigation. Mosaic structural abnormalities, defined as copy number or loss heterozygosity events that are large and present in only a subset cells, have been detected 0.2–1.0% children ascertained for clinical testing. However, frequency among healthy community not well characterized, which, if known, could inform better interpretation pathogenic burden this mutational category with disorders. In case–control...
We have studied the relationship between timing of late meiotic events that occur during progesterone-induced oocyte maturation, and intracellular protein transport. monitored secretion chick oviduct proteins from Xenopus laevis oocytes microinjected with polyadenylated mRNA found ovalbumin lysozyme are not secreted second metaphase, in contrast to earlier prophase stage. Maturation had no detectable effect on glycosylation ovalbumin, whereas it affected ovomucoid. As maturation proceeded,...
<h3>Objective</h3> A genetic opinion is frequently requested in the assessment of a child with suspected fetal alcohol spectrum disorders (FASD). We studied outcome 80 children referred to regional genetics centre between 2004 and 2010 identify value cases FASD. <h3>Design</h3> Retrospective case series. <h3>Patients</h3> patients, aged 1 month 26 years. <h3>Methods</h3> Data from medical records was abstracted, entered onto standard study pro forma, recorded an Excel spreadsheet analysed...
Hyperekplexia is a syndrome of readily provoked startle responses, alongside episodic and generalized hypertonia, that presents within the first month life. Inhibitory glycine receptors are pentameric ligand-gated ion channels with definitive clinically well stratified linkage to hyperekplexia. Most hyperekplexia cases caused by mutations in α1 subunit human receptor (hGlyR) gene (GLRA1). Here we analyzed 68 new unrelated probands for GLRA1 identified 19 mutations, which 9 were novel....
Purpose The increased adoption of genomic strategies in the clinic makes it imperative for diagnostic laboratories to improve efficiency variant interpretation. Clinical exome sequencing (CES) is becoming a valuable tool, capable meeting demand imposed by vast array different rare monogenic disorders. We have assessed clinician-led and phenotype-based approach virtual gene panel generation analysis targeted CES patients with disease single institution. Methods Retrospective survey 400...
Abstract The Fcγ receptors play important roles in the initiation and regulation of many immunological inflammatory processes, genetic variants ( FCGR ) have been associated with numerous autoimmune infectious diseases. data rheumatoid arthritis (RA) are conflicting we previously demonstrated an association between FCGR3A RA. In view close molecular proximity FCGR2A, FCGR2B FCGR3B , additional polymorphisms within these genes haplotypes were examined to refine extent Biallelic FCGR2A for RA...
Abstract A palpation reference line coursing between the superior‐most aspect of iliac crests has been reported to cross L4 spinous process or L4/L5 intervertebral space in ∼80% population. Comparable data have not defined for posterior superior spines (PSIS). The purpose this study was compare anatomical consistency PSIS crest as landmarks used spinal palpation. One hundred computerized tomographic images were reviewed a three‐dimensional setting. Two horizontal lines constructed on each...
Ectonucleotidase proteins occupy a central role in purine signalling regulation by sequentially hydrolysing ATP to ADP and adenosine. The ENPP ( or PDNP) gene family, which encodes ectophosphodiesterase/nucleotide phosphohydrolases, is subfamily of these enzymes, consists 7 members mammals. These catalyse the generation bioactive lipids, placing enzymes as key regulators major physiological pathways also important players several pathological conditions. Here we report cloning all members,...