Search Results - "Lariviere, Mathieu"
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Allele-Specific Chromatin Remodeling in the ZPBP2/GSDMB/ORMDL3 Locus Associated with the Risk of Asthma and Autoimmune Disease
Published in American journal of human genetics (11-09-2009)“…Common SNPs in the chromosome 17q12-q21 region alter the risk for asthma, type 1 diabetes, primary biliary cirrhosis, and Crohn disease. Previous reports by us…”
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2
Multisite verification of the accuracy of a multi-gene next generation sequencing panel for detection of mutations and copy number alterations in solid tumours
Published in PloS one (01-10-2021)“…Molecular variants including single nucleotide variants (SNVs), copy number variants (CNVs) and fusions can be detected in the clinical setting using deep…”
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3
Rare allelic forms of PRDM9 associated with childhood leukemogenesis
Published in Genome research (01-03-2013)“…One of the most rapidly evolving genes in humans, PRDM9, is a key determinant of the distribution of meiotic recombination events. Mutations in this…”
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4
Functional analysis of promoter variants in KU70 and their role in cancer susceptibility
Published in Genes chromosomes & cancer (01-11-2012)“…KU70 is involved in the DNA double‐strand break repair pathway, which plays a critical role in maintaining genomic stability and preventing cancer. Genetic…”
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ALG: automated genotype calling of Luminex assays
Published in PloS one (06-05-2011)“…Single nucleotide polymorphisms (SNPs) are the most commonly used polymorphic markers in genetics studies. Among the different platforms for SNP genotyping,…”
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6
Identification of functional DNA variants in the constitutive promoter region of MDM2
Published in Human genomics (01-09-2012)“…Although mutations in the oncoprotein murine double minute 2 (MDM2) are rare, MDM2 gene overexpression has been observed in several human tumors. Given that…”
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Functional impact of sequence variation in the promoter region of TGFB1
Published in International journal of cancer (15-09-2009)“…Pathological deregulation of the transforming growth factor, beta 1 (TGFB1) pathway has been implicated in the development of several major diseases, including…”
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Relationship between cholesteryl ester transfer protein and LDL heterogeneity in familial hypercholesterolemia
Published in Journal of lipid research (01-06-2004)“…Small, dense LDL particles have been associated with an increased risk of coronary artery disease, and cholesteryl ester transfer protein (CETP) has been…”
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Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans
Published in PLoS genetics (01-09-2013)“…Whole-exome or gene targeted resequencing in hundreds to thousands of individuals has shown that the majority of genetic variants are at low frequency in human…”
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10
Promoter SNPs in G1/S checkpoint regulators and their impact on the susceptibility to childhood leukemia
Published in Blood (15-01-2007)“…Mutations leading to the alteration of cell-cycle checkpoint functions are a common feature of most cancers. Because of the highly regulated nature of the cell…”
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In vivo footprinting analysis of the Glypican 3 (GPC3) promoter region in neuroblastoma cells
Published in Biochimica et biophysica acta (01-03-2007)“…Glypican 3 (GPC3) is an X-linked gene that has its peak expression during development and is down-regulated in all studied tissues after birth. We have shown…”
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Promoter polymorphisms in CHI3L1 are associated with asthma
Published in Journal of allergy and clinical immunology (01-08-2012)“…[...]we tested the association of the rs4950928 and rs10399931 SNPs with asthma in a Saguenay-Lac-Saint-Jean asthmatic familial collection, which comprises 253…”
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Abstract 4416: Rapid, low-input, targeted NGS workflow for DNA methylation
Published in Cancer research (Chicago, Ill.) (22-03-2024)“…DNA methylation is a fundamental epigenetic process that regulates human gene expression. In cancer, methylation changes promote proliferation networks and…”
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25. Towards a clinical grade NGS assay for DNA hypermethylation in prostate cancer
Published in Cancer genetics (01-04-2019)Get full text
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15
Effects of atorvastatin on electrophoretic characteristics of LDL particles among subjects with heterozygous familial hypercholesterolemia
Published in Atherosclerosis (01-03-2003)“…The effects of the HMG CoA reductase inhibitor atorvastatin on electrophoretic characteristics of LDL particles were evaluated in 46 patients (28 males and 18…”
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Abstract 5548: Clinical management and decision making in early ER-positive breast cancers through improved prognosis and pathway directed molecular profiling
Published in Cancer research (Chicago, Ill.) (04-04-2023)“…Hormone receptor positive (HR+ve) breast cancer (BCa) comprises over 80% of all newly diagnosed BCas. While there is an initial good response to anti-hormone…”
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Abstract 2484: Whole-exome sequencing of a rare case of familial childhood acute lymphoblastic leukemia
Published in Cancer research (Chicago, Ill.) (15-04-2012)“…Acute lymphoblastic leukemia (ALL) is the most common cancer in children, accounting for approximately 25% of all pediatric cancer cases. However, familial…”
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Whole-Exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants in a Founding Population of Humans: e1003815
Published in PLoS genetics (01-09-2013)“…Whole-exome or gene targeted resequencing in hundreds to thousands of individuals has shown that the majority of genetic variants are at low frequency in human…”
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Abstract 4335: The genomic landscape of childhood pre-B acute lymphoblastic leukemia
Published in Cancer research (Chicago, Ill.) (15-04-2012)“…Precursor B-cell acute lymphoblastic leukemia (pre-B ALL) is the most frequent pediatric cancer. Increased understanding of the pathobiology of B-cell ALL has…”
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