A5062926399- Retinal Development and Disorders
- Neuroscience of respiration and sleep
- Genetic Syndromes and Imprinting
- Prenatal Screening and Diagnostics
- Gestational Trophoblastic Disease Studies
- Epigenetics and DNA Methylation
- Neurobiology and Insect Physiology Research
- Retinoids in leukemia and cellular processes
- Biosensors and Analytical Detection
- Heart Rate Variability and Autonomic Control
- Circadian rhythm and melatonin
- Alzheimer's disease research and treatments
- Neuroscience and Neural Engineering
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Spectroscopy Techniques in Biomedical and Chemical Research
- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Crop Yield and Soil Fertility
- Protein Kinase Regulation and GTPase Signaling
- Ocular Disorders and Treatments
- Cancer-related gene regulation
- IL-33, ST2, and ILC Pathways
- Cardiac Arrest and Resuscitation
- S100 Proteins and Annexins
- Genomics and Rare Diseases
Medical College of Wisconsin
2014-2024
Lancaster University
2011-2022
Indiana University School of Medicine
2020-2021
Indiana University
2020-2021
University School
2020-2021
Imperial College London
1997-2009
Charing Cross Hospital
2003-2006
MRC Laboratory for Molecular Cell Biology
2001
<h3>Background:</h3> <i>NLRP7</i> (NALP7) has recently been identified as the causative gene for familial recurrent hydatidiform mole (FRHM), a rare autosomal recessive condition in which affected women have molar pregnancies of diploid biparental origin. To date only small number families described. Our objectives were to investigate diversity mutations and their localisation one or both isoforms NLRP7, by screening large series with FRHM examine normal expression NLRP7 ovarian tissue....
Global deployment of an effective and safe vaccine is necessary to curtail the coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome 2 (SARS-CoV-2). Here, we evaluated a Newcastle virus (NDV)-based vectored-vaccine in mice hamsters for its immunogenicity, safety, protective efficacy against SARS-CoV-2. Intranasal administration recombinant (r)NDV-S expressing spike (S) protein SARS-CoV-2 induced high levels SARS-CoV-2-specific neutralizing immunoglobulin A (IgA)...
We applied surface-enhanced Raman spectroscopy (SERS) to immunolabeled endothelial cells derive enhanced spectra of the biomolecular makeup cellular surface. A two-step immunolabeling protocol with gold-conjugated antibodies coupled silver enhancement attach nanoparticles cell surface was employed. This approach generated ∼50-fold SERS spectral signals. The exhibited several SERS-enhanced peaks associated membrane components. detection proved more far sensitive than conventional light...
Until vaccines and effective therapeutics become available, the practical solution to transit safely out of current coronavirus disease 19 (CoVID-19) lockdown may include implementation an testing, tracing tracking system. However, this requires a reliable clinically validated diagnostic platform for sensitive specific identification SARS-CoV-2. Here, we report on development de novo, high-resolution comparative genomics guided reverse-transcribed loop-mediated isothermal amplification...
Here we describe the cloning of human Achaete Scute Homologue 2 (HASH2) gene, officially designated ASCL2 (Achaete complex like 2), a homologue Drosophila and genes. In mouse, this gene is imprinted maps to chromosome 7. We mapped close IGF2 H19 at 11p15.5, region syntenic with mouse 7, indicating that highly conserved in man. HASH2 expressed extravillus trophoblasts developing placenta only. The lack expression non-malignant hydatidiform (androgenetic) moles indicates also
We ascertained three different families affected with oto-dental syndrome, a rare but severe autosomal-dominant craniofacial anomaly. All patients had the unique phenotype of grossly enlarged molar teeth (globodontia) segregating high-frequency sensorineural hearing loss. In addition, ocular coloboma segregated disease in one family (oculo-oto-dental syndrome). A genome-wide scan was performed using Affymetrix GeneChip10K 2.0 Array. Parametric linkage analysis gave single LOD score peak 3.9...
The Insulin/IGF-like signalling (IIS) pathway plays an evolutionarily conserved role in ageing. In model organisms reduced IIS extends lifespan and ameliorates some forms of functional senescence. However, little is known about nervous system ageing behavioural To investigate this Drosophila melanogaster, we measured the effect on senescence two locomotor behaviours, negative geotaxis exploratory walking. Two long-lived fly models with systemic reductions (daGAL4/UAS-InRDN (ubiquitous...
Hydatidiform mole (HM) is an uncommon type of pregnancy, typically resulting from a diandric conception. HM may be defined as complete (CHM), having androgenetic, diploid genome (AnCHM),1,2 or partial, diandric, triploid (PHM).3,4 A rare CHM but, unlike AnCHM, biparental (BiCHM) in origin.5,6 It has been shown that AnCHM and BiCHM are pathologically indistinguishable,7 such the pathology also likely to involve misexpression imprinted genes.8 Genomic imprinting recently investigated tissue....
Drosophila Acer (Angiotensin-converting enzyme-related) encodes a member of the angiotensin-converting enzyme (ACE) family metallopeptidases that in mammals play roles endocrine regulation blood homeostasis. ACE is also expressed adipose tissue where it thought to role metabolic regulation. adult fat body head and abdomen secreted into haemolymph. null mutants have previously been found reduced night time sleep greater fragmentation. may thus be part signalling system linking metabolism with...
Genomic imprinting results in expression of some autosomal genes from one parental allele only. Human chromosome 11p15, and the syntenic region on mouse distal 7, contain several imprinted genes, including p57KIP2(CDKN1C) IGF2. These two which are separated by >700 kb, both implicated pathogenesis Beckwith-Wiedemann syndrome. We have shown previously that an Igf2/H19 transgene is expressed appropriately can imprint at ectopic chromosomal locations. To investigate p57KIP2 region, we similarly...
Abstract Introduction Suppressor of cytokine signaling 3 (SOCS3) is a tumour suppressor, limiting intestinal epithelial cell (IEC) proliferation in acute inflammation, and growth, but little known regarding its role mucosal homeostasis. Resistance to the helminth Trichuris muris relies on an “epithelial escalator” expel parasite. IEC turnover restricted by parasite‐induced indoleamine 2,3‐dioxygenase (IDO). Methods Mice with or without conditional knockout SOCS3 were infected T. . Crypt...
The amyloid cascade hypothesis proposes that excessive accumulation of beta-peptides is the initiating event in Alzheimer's disease. These neurotoxic peptides are generated from precursor protein via sequential cleavage by β- and γ-secretases 'amyloidogenic' proteolytic pathway. Alternatively, can be processed 'non-amyloidogenic' pathway which, through action α-secretase a disintegrin metalloproteinase (ADAM) 10, both precludes beta-peptide formation has additional benefit generating...