A5103231962- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Effects of Radiation Exposure
- Radiation Therapy and Dosimetry
- Neuroinflammation and Neurodegeneration Mechanisms
- Glaucoma and retinal disorders
- Acute Myeloid Leukemia Research
- Amyotrophic Lateral Sclerosis Research
- Epigenetics and DNA Methylation
- DNA Repair Mechanisms
- Carcinogens and Genotoxicity Assessment
- RNA Research and Splicing
- Glioma Diagnosis and Treatment
- Neuroscience and Neuropharmacology Research
- Retinal and Optic Conditions
- RNA regulation and disease
- Chromatin Remodeling and Cancer
- Alzheimer's disease research and treatments
- Neurogenetic and Muscular Disorders Research
- Neurogenesis and neuroplasticity mechanisms
- Coronary Interventions and Diagnostics
- Nuclear Structure and Function
- CRISPR and Genetic Engineering
- Genomics and Chromatin Dynamics
- Cardiac and Coronary Surgery Techniques
Oregon Health & Science University
2012-2024
University of California, San Diego
2023-2024
LabCorp (United States)
2024
Triangle
2024
Barrow Neurological Institute
2018-2023
Arizona State University
2020-2023
Oregon Medical Research Center
2023
St. Joseph's Hospital and Medical Center
2018
Dignity Health
2018
Public Health Ontario
2014
'Viable yellow' (Avy/a) mice are larger, obese, hyperinsulinemic, more susceptible to cancer, and, on average, shorter lived than their non-yellow siblings. They epigenetic mosaics ranging from a yellow phenotype with maximum ectopic agouti overexpression, through continuum of mottled agouti/yellow phenotypes partial pseudoagouti minimal expression. Pseudoagouti Avy/a lean, healthy, and longer Here we report that feeding pregnant black a/a dams methyl-supplemented diets alters regulation...
Loss of nuclear TDP-43 is a hallmark neurodegeneration in proteinopathies, including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). mislocalization results cryptic splicing polyadenylation pre-messenger RNAs (pre-mRNAs) encoding stathmin-2 (also known as SCG10), protein that required for axonal regeneration. We found binding to GU-rich region sterically blocked recognition the 3' splice site
Human epidermal growth factor receptor 2 (HER2, ERBB2) testing is an important prognostic/predictive marker in breast cancer management, especially selecting HER2-targeted treatment. American Society of Clinical Oncology (ASCO)/College Pathologists (CAP) guidelines address HER2 status and were recently revised 2013, replacing the 2007 version. For situ hybridization interpretation, 2013 return to prior threshold a HER2/CEP17 ratio 2.0 or greater for positive eliminate 1.8 2.2 as equivocal...
While motor and cortical neurons are affected in C9orf72 amyotrophic lateral sclerosis frontotemporal dementia (ALS/FTD), it remains largely unknown if how non-neuronal cells induce or exacerbate neuronal damage. We differentiated ALS/FTD patient-derived induced pluripotent stem into microglia (iPSC-MG) examined their intrinsic phenotypes. Similar to iPSC neurons, iPSC-MG mono-cultures form G 4 C 2 repeat RNA foci, exhibit reduced protein levels, generate dipeptide proteins. Healthy control...
Microarray-based methylation profiling has emerged as a valuable tool for refining diagnoses and revealing novel tumor subtypes, particularly in central nervous system tumors. Despite the increasing adoption of this technique clinical genomic laboratories, no technical standards have been published establishing minimum criteria test validation. A working group with experience expertise DNA-based tests on CNS tumors collaborated to develop practical discussion points focus important...
Abstract Transgenic mouse mutation detection systems permit rapid determination of the frequency and type mutations allowing direct examination mutational markers for aging, neurodegeneration, cancer. The Big Blue® transgenic system was used to determine nature spontaneous versus age in multiple tissue types. Nuclear DNA extracted from whole fetus at 13.5 days postcoitus (dpc) six tissues postbirth (cerebellum, forebrain, thymus, liver, adipose tissue, male germline) Blue mice four ages: 10...
Gene copy number alteration (CNA) is common in malignant melanoma and associated with tumor development progression. The concordance between molecular cytogenetic techniques used to determine CNA has not been evaluated on a large set of loci melanoma.A panel 16 locus-specific fluorescence situ hybridization (FISH) probes located eight chromosomes was identify touch preparations frozen tissue samples from 19 patients metastatic (SWOG-9431). A subset (n = 11) analyzed using bacterial...
Acute myeloid leukemia (AML) with NUP98 rearrangement (AML-NUP98) has been uncommonly reported in adults, and its incidence our institution is ∼2.5%. There were four men five women a median age of 49 years, among which six cases de novo AML three therapy-related. Five minimal differentiation or without maturation, followed by monocytic differentiation. was confirmed all FISH, showed cryptic translocations. The overall survival (OS) 13 months, shorter than that AML-NPM1 (p < 0.05), similar to...
The development of neural cell topography in the retinal ganglion layer was examined a teleost, black bream <i>(Acanthopagrus butcheri)</i>. From Nissl-stained wholemounts, it established that fish between 10 and 15 mm standard body length (SL) possess high densities throughout dorso-temporal quadrant, with peak located temporal regions retina. However, 80 SL, wide variation position density is revealed locations areae centrales (AC) ranging from exclusively to periphero-dorsal...
Moore, S. R., Marsden, S., Macdonald, D., Mitchell, Folkard, M., Michael, B., Goodhead, D. T., Prise, K. M. and Kadhim, A. Genomic Instability in Human Lymphocytes Irradiated with Individual Charged Particles: Involvement of Tumor Necrosis Factor α Cells but not Bystander Cells. Radiat. Res. 163, 183–191 (2005).Exposure to ionizing radiation can increase the risk cancer, which is often characterized by genomic instability. In environmental exposures high-LET (e.g. 222Ra), it unlikely that...
Studying the potential role of tumour necrosis factor (TNF)alpha in initiation genomic instability is necessary to understand whether TNFalpha can serve as a signalling mediator radiation-induced non-irradiated bystander cells. In this study, we examined could initiate processes through oxidative stress that lead DNA damage and primary vascular endothelium. these cells, low linear energy transfer (LET) radiation (0.1-2 Gy) induced secretion into culture medium. When added ectopically, at...
Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal due to mutations causing haploinsufficiency of RUNX2, an osteoblast transcription factor specific for bone and cartilage. The classic form CCD characterized by delayed closure the fontanels, hypoplastic or aplastic clavicles dental anomalies. Clinical reports suggest that subset patients with have changes which mimic hypophosphatasia (HPP). Mutations in RUNX2 are detected approximately 65% cases CCD, microdeletions occur...
Genetic rearrangements involving FLT3 are rare and only recently have been detected in myeloid/lymphoid neoplasms associated with eosinophilia (MLN-eos) chronic myeloproliferative disorders. Here we report two cases fusions patients demonstrating mixed features of myelodysplastic/myeloproliferative neoplasms. In the first case, was fused a new fusion partner MYO18A patient marrow most consistent atypical myeloid leukemia; second case ETV6-FLT3 observed bone myelomonocytic leukemia. Notably,...