A5023799810- Acute Myeloid Leukemia Research
- Genomic variations and chromosomal abnormalities
- Protein Degradation and Inhibitors
- Genetics and Neurodevelopmental Disorders
- Prenatal Screening and Diagnostics
- 3D Printing in Biomedical Research
- Ubiquitin and proteasome pathways
- RNA modifications and cancer
- Chromosomal and Genetic Variations
- Retinoids in leukemia and cellular processes
- Pluripotent Stem Cells Research
- Chronic Myeloid Leukemia Treatments
- Biomedical Ethics and Regulation
- Genomics and Rare Diseases
- Acute Lymphoblastic Leukemia research
- Congenital heart defects research
- MicroRNA in disease regulation
- Genomics and Chromatin Dynamics
- Ocular Oncology and Treatments
- Vitamin D Research Studies
- Chronic Lymphocytic Leukemia Research
- Cancer Genomics and Diagnostics
- interferon and immune responses
- Digestive system and related health
- RNA Research and Splicing
Alberta Children's Hospital
2013-2024
Alberta Health Services
2013-2024
Alberta Children's Hospital Research Institute
2015-2024
University of Calgary
2013-2021
Medical Genetics Center
2020
Calgary Laboratory Services
2020
Terry Fox Research Institute
2013
Children's Hospital of Eastern Ontario
2010-2012
BC Cancer Agency
2004-2011
University of Ottawa
2011
MicroRNAs (miRNAs) have been shown to play important roles in physiological as well multiple malignant processes, including acute myeloid leukemia (AML). In an effort gain further insight into the role of miRNAs AML, we applied Illumina massively parallel sequencing platform carry out in-depth analysis miRNA transcriptome a murine progression model. This model simulates stepwise conversion progenitor cell by engineered overexpression nucleoporin 98 ( NUP98 )–homeobox HOXD13 fusion gene...
Rare copy number variants (CNVs) disrupting ASTN2 or both and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, its paralog ASTN1, key roles glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 ASTN1 (1q25.2) for exonic CNVs clinical microarray data from...
Human induced pluripotent stem cells (hiPSCs) hold enormous promise in accelerating breakthroughs understanding human development, drug screening, disease modeling, and cell gene therapies. Their potential, however, has been bottlenecked a mostly laboratory setting due to bioprocess challenges the scale-up of large quantities high-quality for clinical manufacturing purposes. While several studies have investigated production hiPSCs bioreactors, use conventional horizontal-impeller, paddle,...
CBL is a negative regulator of activated receptor tyrosine kinases (RTK). In this study, we determined the frequency mutations in acute leukemias and evaluated oncogenic potential mutant CBL.The cDNA 300 myeloid leukemia (AML)/myelodysplastic syndrome (MDS) lymphoblastic (ALL) patients 82 human leukemic cell lines was screened for aberrations linker RING finger domain CBL. The identified mutants hematopoietic cells.We 3 279 AML/MDS expressing exon 8/9 deletion mutants. Three four cases at...
The chromodomain helicase DNA binding domain (CHD) proteins modulate gene expression via their ability to remodel chromatin structure and influence histone acetylation. Recent studies have shown that CHD2 protein plays a critical role in embryonic development, tumor suppression survival. Like other genes encoding members of the CHD family, pathogenic mutations are expected be implicated human disease. In fact, there is emerging evidence suggesting might contribute broad spectrum...
A 58-year-old woman with debilitating ankylosing spondylitis who was born to consanguineous parents found have an apparent severe vitamin D deficiency that did not respond supplementation. Liquid chromatography-tandem mass spectrometry showed the absence of circulating D-binding protein, and chromosomal microarray confirmed a homozygous deletion group-specific component (GC) gene encodes protein. Congenital protein resulted in normocalcemia relatively mild disruption bone metabolism, this...
Abstract Human induced pluripotent stem cells (hiPSCs) have generated a great deal of attention owing to their capacity for self-renewal and differentiation into the three germ layers body. Their discovery has facilitated new era in biomedicine understanding human development, drug screening, disease modeling, cell therapy while reducing ethical issues risks immune rejection associated with traditional embryonic cells. Bioreactor-based processes been method choice efficient expansion...
Polycomb group proteins act through response elements (PREs) to maintain silencing at homeotic loci. The minimal 1.5-kb bithoraxoid (bxd) PRE contains a region required for pairing-sensitive repression and flanking regions maintenance of embryonic silencing. Little is known about the identity specific sequences necessary function regions. Using gel mobility shift analysis, we identify DNA binding activities that interact specifically with multipartite 70-bp fragment (MHS-70) downstream...
We used patient dermal fibroblasts to characterize the mitochondrial abnormalities associated with dilated cardiomyopathy ataxia syndrome (DCMA) and study effect of mitochondrially-targeted peptide SS-31 as a potential novel therapeutic. DCMA is rare understudied autosomal recessive disorder thought be related Barth but caused by mutations in DNAJC19, protein unknown function localized mitochondria. The clinical disease characterized 3-methylglutaconic aciduria, cardiomyopathy, abnormal...
B-cell acute lymphoblastic leukemia (B-ALL) is often driven by chromosome translocations that result in recurrent and well-studied gene fusions. Currently, fluorescent situ hybridization probes are used to detect candidate bone marrow samples from B-ALL patients. Recently Hi-C, a sequencing-based technique originally designed reconstruct the three-dimensional architecture of nuclear genome, was shown effectively recognize structural variants. Here, we demonstrate Hi-C can be as genome-wide...