A5015719768- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Neuroinflammation and Neurodegeneration Mechanisms
- Ion channel regulation and function
- Retinal Diseases and Treatments
- Cardiac electrophysiology and arrhythmias
- Cutaneous Melanoma Detection and Management
- Neurogenesis and neuroplasticity mechanisms
- Ocular Oncology and Treatments
- Muscle Physiology and Disorders
- Retinal Imaging and Analysis
- Ion Channels and Receptors
- Retinal and Optic Conditions
- Retinal Development and Disorders
- Stress Responses and Cortisol
- Connective tissue disorders research
- Single-cell and spatial transcriptomics
- Syphilis Diagnosis and Treatment
- Ocular Diseases and Behçet’s Syndrome
- CRISPR and Genetic Engineering
- Dermatological and Skeletal Disorders
- RNA modifications and cancer
- Retinal and Macular Surgery
- T-cell and B-cell Immunology
- Tryptophan and brain disorders
Queen's University Belfast
2020-2024
University of British Columbia
2023
University of Utah
2014-2021
Virginia Commonwealth University
2021
University of Nevada, Reno
2018-2020
Wycombe General Hospital
1991
John Radcliffe Hospital
1989
To determine whether the genetic prevalence of CTG expansion in DMPK gene associated with myotonic dystrophy type 1 (DM1) an unbiased cohort is higher than previously reported population estimates, ranging from 5 to 20 per 100,000 individuals.This study used a cross-sectional deidentified dried blood spots newborn screening program state New York, taken consecutive births 2013 2014. Blood were screened for repeat using triplet-repeat primed PCR and melt curve analysis. Melt morphology was...
<h3>Importance</h3> Somatic mutations in<i>BAP1</i>(BRCA1-associated protein 1 gene) are frequently identified in uveal melanoma. To date, the role of germline<i> BAP1</i>mutations melanoma has not been characterized. <h3>Objective</h3> characterize clinical phenotype patients with germline<i>BAP1</i>mutations. <h3>Design, Setting, and Participants</h3> Retrospective cohort study at an academic ophthalmology referral center among 507 who consented for collection blood samples. The dates were...
Abstract Myelin regeneration (remyelination) is essential to prevent neurodegeneration in demyelinating diseases such as Multiple Sclerosis, however, its efficiency declines with age. Regulatory T cells (Treg) recently emerged critical players tissue regeneration, including remyelination. However, the effect of ageing on Treg-mediated regenerative processes poorly understood. Here, we show that expansion aged Treg does not rescue age-associated remyelination impairment due an intrinsically...
Fifty-one patients with Ehlers-Danlos syndrome were investigated for abnormalities of platelets and coagulation. Thirty-eight examined prospectively 13 retrospectively. A bleeding history was taken from all patients; only four (8%) gave no a bruising or tendency. Nine (18%) had significant haemostatic whom platelet release defect, three (6%) factor XI deficiency two (4%) XIII deficiency. Additionally 16 (31%) mild uncertain significance prolonged times (three in association aggregation...
Pulmonary arterial (PA) smooth muscle cells (PASMC) generate vascular tone in response to agonists coupled Gq-protein receptor signaling. Such stimulate oscillating calcium waves, the frequency of which drives strength contraction. These Ca2+ events are modulated by a variety ion channels including voltage-gated (CaV1.2), Tmem16a or Anoctamin-1 (ANO1)-encoded calcium-activated chloride (CaCC) channel, and release from sarcoplasmic reticulum through inositol-trisphosphate receptors (IP3R)....
Loss of retinal blood flow autoregulation is an early feature diabetes that precedes the development clinically recognizable diabetic retinopathy (DR). Retinal mediated by myogenic response arterial vessels, a process initiated stretch‑dependent activation TRPV2 channels on vascular smooth muscle cells (VSMCs). Here, we show impaired reaction arterioles from animals associated with complete loss current activity VSMCs. This effect could be attributed, in part, to channel downregulation,...
Between 1983 and 1987, 62 out of 76519 pregnancies in 51 mothers had a positive miniaturised Treponema pallidum haemagglutination assay (TPHA) test--1 1234, or 0.81 per 1000 births. About two thirds these syphilis the remainder non-venereal treponematoses such as yaws pinta. Antenatal screening identified 13 patients with previously unknown acquired syphilis, 11 whom were given antibiotics during pregnancy. There six fetal losses among TPHA pregnancies, but none evidence congenital syphilis....
We observed that the third leading cause of blindness in world, age-related macular degeneration (AMD), occurs at a very low documented frequency population-based cohort from Timor-Leste. Thus, we determined complete catalog ancestry Timorese by analysis whole exome chip data and haplogroup SNP genotypes sequencing Hypervariable I II regions mitochondrial genome 17 genotyped YSTR markers obtained 535 individuals. 20 previously reported AMD-associated SNPs to examine their allele frequencies...
Abstract Myelin regeneration (remyelination) is essential to prevent neurodegeneration in demyelinating diseases such as Multiple Sclerosis, however, its efficiency declines with age. Regulatory T cells (Treg) recently emerged critical players tissue regeneration, including remyelination. However, the effect of ageing on Treg-mediated regenerative processes poorly understood. Here, we show that expansion aged Treg does not rescue age-associated remyelination impairment due an intrinsically...
Abstract Background Myotonic dystrophy type 1 (DM1) is caused by CTG repeat expansions in the DMPK gene and most common form of muscular dystrophy. Patients can have long delays from onset to diagnosis, since clinical signs symptoms are often nonspecific overlapping with other disorders. Clinical genetic testing Southern blot or triplet‐primed PCR (TP‐PCR) technically challenging cost prohibitive for population surveys. Methods Here, we present a high throughput, low‐cost screening tool...
ABSTRACT Background Myotonic dystrophy type 1 (DM1) is caused by CTG repeat expansions in the DMPK gene and most common form of muscular dystrophy. Patients can have long delays from onset to diagnosis, since clinical signs symptoms are often non-specific overlapping with other disorders. Clinical genetic testing Southern blot or triplet-primed PCR (TP-PCR) technically challenging cost prohibitive for population surveys. Methods Here, we present a high throughput, low-cost screening tool...
OBJECTIVE: Evaluate RNA splicing changes in the peripheral blood and skeletal muscle of patients with congenital myotonic dystrophy (CDM). BACKGROUND: Congenital is a severe, infantile-onset form (DM1). Splicing leading to disruptions gene regulation have been demonstrated DM1, but it unknown if CDM experience same splicing. Furthermore, associated not examined children or adults. DESIGN/METHODS: Peripheral lymphocytes were isolated from two (ages 3 8) healthy controls 5 10) using PAXgene...
Objective: To describe the pathogenesis of skeletal muscle changes seen in congenital myotonic dystrophy (CDM) childhood. Background: Adult onset type-1 (DM1) is due to intranuclear sequestration splicing proteins, such as MBNL1, with expanded CUGn repeat DMPK transcript. In adults, this results retention fetal isoforms for a number other transcripts, thereby resulting disease symptoms. Children CDM have significantly different symptoms than adults DM1. It unclear if similar are children...
Objective: To present clinical features and genetic findings in a large pedigree with maternally inherited refractory status epilepticus chronic kidney disease. Background: Mitochondrial disorders spectrum of neurological manifestations. Epilepsy is common feature, though different mutations may multiple phenotypes. Myoclonus epilepsy ragged red fibers (MERRF) commonly presents while mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes (MELAS) rarely epilepsy....