A5062481709- Chronic Lymphocytic Leukemia Research
- Immunodeficiency and Autoimmune Disorders
- Cystic Fibrosis Research Advances
- Mitochondrial Function and Pathology
- Extracellular vesicles in disease
- Genetic Syndromes and Imprinting
- Glycosylation and Glycoproteins Research
- Pharmacogenetics and Drug Metabolism
- Metabolomics and Mass Spectrometry Studies
- Immune Response and Inflammation
- Lymphoma Diagnosis and Treatment
- Biochemical Acid Research Studies
- Epigenetics and DNA Methylation
- Neuroendocrine Tumor Research Advances
- Cancer, Hypoxia, and Metabolism
- Genomic variations and chromosomal abnormalities
- DNA Repair Mechanisms
- Cancer-related gene regulation
- Immune cells in cancer
- Monoclonal and Polyclonal Antibodies Research
- Genetic Neurodegenerative Diseases
- Mesenchymal stem cell research
- Colorectal Cancer Treatments and Studies
- Growth Hormone and Insulin-like Growth Factors
- BRCA gene mutations in cancer
Université de Moncton
2015-2025
Vitalité Health Network
2021-2025
Atlantic Cancer Research Institute
2020-2025
Moncton Hospital
2025
Dr. Georges-L.-Dumont University Hospital Centre
2021-2024
Horizon Health Network
2024
Beatrice Hunter Cancer Research Institute
2023
Medical Genetics Center
2022
Université Laval
2018-2021
Centre hospitalier universitaire de Québec
2018-2020
ABSTRACT Background In Canada, founder variants in breast cancer susceptibility genes have been identified populations residing Québec and Newfoundland, thus demonstrating the value characterizing genetic profile of local for better clinical management. New Brunswick has a diverse, yet genetically unexplored population that includes Irish Acadian ancestry, among others, we hypothesized this could demonstrate potential enrichments genes. Methods Health records were retrospectively analyzed...
Prostate cancer (PCa) cells rely on the androgen receptor (AR) signaling axis to reprogram metabolism sustain aberrant proliferation. Whether additional transcription factors participate this reprogramming remains mostly unknown. To identify such factors, DNA motif analyses were performed in promoter and regulatory regions of genes sensitive androgens PCa cells. These identified two KLF5 NFYA, as possibly associated with cell metabolism. In clinical datasets, NFYA expression levels disease...
5-Lipoxygenase (5-LO) catalyzes leukotriene (LT) biosynthesis by a mechanism that involves interactions with 5-lipoxygenase activating protein (FLAP) and coactosin-like (CLP). 5-LO splice variants were recently identified in human myeloid lymphoid cells, including the catalytically inactive ∆13 isoform (5-LO∆13) whose transcript lacks exon 13. 5-LO∆13 inhibits product when co-expressed active full length (5-LO1). The objective of this study was to investigate potential mechanisms which...
Abstract This study investigated the potential of single nucleotide polymorphisms as predictors survival in two cohorts comprising 417 metastatic colorectal cancer (mCRC) patients treated with FOLFIRI (folinic acid, 5-fluorouracil and irinotecan) regimen. The rs4806668G > T ribosomal protein gene RPL28 was associated shorter progression-free overall by 5 9 months ( P = 0.002), hazard ratios 3.36 < 0.001) 3.07 respectively. rs4806668T allele an increased expression transverse normal...
Abstract Background High UGT2B17 is associated with poor prognosis in untreated chronic lymphocytic leukaemia (CLL) patients and its expression induced non-responders to fludarabine-containing regimens. We examined whether UGT2B17, the predominant lymphoid glucuronosyltransferase, affects leukaemic drug response involved metabolic inactivation of anti-leukaemic agents. Methods Functional enzymatic assays patients’ plasma samples were analysed by mass-spectrometry evaluate UGT2B17....
Chronic lymphocytic leukemia (CLL) is not considered a hormone-regulated cancer although sex recognized risk factor with men more frequently diagnosed and developing progressive disease. We hypothesized that variable hormonal exposure may have sexually dimorphic influence on treatment-free survival (TFS). In 156 CLL cases, we quantitatively profiled 29 circulating steroids (progesterone, adrenal precursors, androgens, estrogens, catechol estrogens) as well luteinizing hormone (LH)...
High expression of the metabolic enzyme UDP-glucuronosyltransferase UGT2B17 in chronic lymphocytic leukemia (CLL) cells was associated with poor prognosis two independent studies. However, underlying mechanism remains unknown. We hypothesized that impacts intracellular levels hormone-like signaling molecules involved regulation gene leukemic cells. initially confirmed a third cohort 291 CLL patients those high displayed (hazard ratio 2.31, P = 0.015). Consistent unfavorable prognostic...
Perturbation of the major UGT2B17-dependent androgen catabolism pathway has potential to affect prostate cancer (PCa) progression. The objective was evaluate UGT2B17 protein expression in primary tumours relation hormone levels, disease characteristics and evolution.We conducted an analysis a high-density tumour tissue microarray consisting 239 localised PCa cases treated by radical prostatectomy (RP). Cox proportional hazard ratio used biochemical recurrence (BCR), linear regression model...
In insect, pyruvate is generally the predominant oxidative substrate for mitochondria. This metabolite transported inside mitochondria via mitochondrial carrier (MPC), but whether and how this transporter controls capacities in insects still relatively unknown. Here, we characterize importance of transport as a metabolic control point oxidation two genotypes an insect model, Drosophila melanogaster, differently expressing MPC1, essential protein MPC function. We evaluated kinetics oxidation,...
Abstract Snijders Blok‐Campeau syndrome is an autosomal dominant genetic disorder first described in 2018, mostly associated with de novo variants the CHD3 gene that affects chromatin remodeling. This characterized by developmental delay, speech and intellectual disability, but only about 60 affected individuals have been reported to date. We report a likely pathogenic variant (c.5609G > A; p. (Arg1870Gln)) young female presenting features of including autism spectrum disorder, learning...
RNA sequencing analysis is an important field in the study of extracellular vesicles (EVs), as these particles contain a variety species that may have diagnostic, prognostic and predictive value. Many bioinformatics tools currently used to analyze EV cargo rely on third-party annotations. Recently, unannotated expressed RNAs has become interest, since provide complementary information traditional annotated biomarkers or help refine biological signatures machine learning by including unknown...
Excess dietary carbohydrates are linked to dysregulation of metabolic pathways converging mitochondria and inflexibility. Here, we determined the role mitochondrial pyruvate carrier (MPC) in occurrence this inflexibility wild-type (WT) MPC1-deficient (MPC1def) flies that were exposed diets with different sucrose concentrations for 15-25 days (Standard Diet: SD, Medium-Sucrose MSD, High-Sucrose HSD). Our results showed MPC1def had lower respiration rates than WT on SD MSD. However, when HSD,...
The detoxification enzyme UDP-glucuronosyltransferase UGT2B10 is specialized in the N-linked glucuronidation of many drugs and xenobiotics. Preferred substrates possess tertiary aliphatic amines heterocyclic amines, such as tobacco carcinogens several antidepressants antipsychotics. We hypothesized that alternative splicing (AS) constitutes a means to regulate steady-state levels activity. established transcriptome <i>UGT2B10</i> normal tumoral tissues multiple individuals. highest...
In chronic lymphocytic leukemia (CLL), an elevated glycosyltransferase UGT2B17 expression (UGT2B17
Abstract Megakaryocytes are myeloid cells produced primarily in the bone marrow and best known for releasing platelets blood stream. In platelet production process, megakaryocytes transfer their bioactive content, including 12-lipoxygenase (12-LO) enzyme, into newly formed platelets. The 12-LO has been shown to be implicated activation is overexpressed several chronic inflammatory conditions, types of cancers. responsible conversion arachidonic acid 12(S)-hydroxyeicosatetraenoic...
Abstract Background High expression of the glycosyltransferase UGT2B17 represents an independent adverse prognostic marker in chronic lymphocytic leukemia (CLL). It also constitutes a predictive for therapeutic response and drug resistance mechanism. The key determinants driving gene normal leukemic B-cells remain undefined. transcriptome is complex comprised at least 10 alternative transcripts, identified by previous RNA-sequencing liver intestine. We hypothesized that transcriptional...
Abstract Background Founder populations that have recently undergone important genetic bottlenecks such as French-Canadians and Ashkenazi Jews can harbor some pathogenic variants at a higher carrier rate than the general population, putting them risk for certain diseases. In these populations, there be considerable benefit to performing ethnic-based or expanded preconception screening, which help in prevention early diagnosis management of Acadians are descendants French immigrants who...
Background Imprinting centre 2 (IC2) in the chromosomal region 11p15.5 regulates monoallelic expression of imprinted genes by differential methylation paternal and maternal chromosomes. Copy number variants IC2 are associated with Beckwith-Wiedemann syndrome Silver-Russell (SRS). Clinical outcome deletions seems to depend on parental origin chromosome, deletion size inclusion or exclusion enhancer promoter regions. Results A paternally inherited 132 bp within KCNQ1OT1 gene was found a...