Sophie Marion de Procé
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View article: Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia
Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia Open
Background Primary ciliary dyskinesia (PCD) is a genetic disorder affecting motile cilia. Most cases are inherited recessively, due to variants in >50 genes that result in abnormal or absent motile cilia. This leads to chronic upper and lo…
View article: High diagnostic rate of whole genome sequencing in primary ciliary dyskinesia
High diagnostic rate of whole genome sequencing in primary ciliary dyskinesia Open
Aim Primary ciliary dyskinesia (PCD) is a genetic disorder affecting motile cilia. Most cases are inherited recessively, due to variants in more than 50 genes that result in abnormal or absent motile cilia. This leads to chronic upper and …
View article: The contribution of evolutionarily volatile promoters to molecular phenotypes and human trait variation
The contribution of evolutionarily volatile promoters to molecular phenotypes and human trait variation Open
View article: Development of methylation-based biomarkers for breast cancer detection by model training and validation in synthetic cell-free DNA
Development of methylation-based biomarkers for breast cancer detection by model training and validation in synthetic cell-free DNA Open
Circulating tumour-derived DNA (ctDNA) carries the genetic and epigenetic characteristics of the tumour from which it is derived and can give information about the biology and tissue origins of the underlying tumour. DNA methylation is an …
View article: Additional file 2 of The contribution of evolutionarily volatile promoters to molecular phenotypes and human trait variation
Additional file 2 of The contribution of evolutionarily volatile promoters to molecular phenotypes and human trait variation Open
Additional file 2. Supplementary Tables 1-5.
View article: Spatial transcriptomics identifies spatially dysregulated expression of <i>GRM3</i> and <i>USP47</i> in amyotrophic lateral sclerosis
Spatial transcriptomics identifies spatially dysregulated expression of <i>GRM3</i> and <i>USP47</i> in amyotrophic lateral sclerosis Open
Aims The mechanisms underlying the selective degeneration of motor neurones in amyotrophic lateral sclerosis (ALS) are poorly understood. The aim of this study was to implement spatially resolved RNA sequencing in human post mortem cortica…
View article: <i>Camk2n1</i> Is a Negative Regulator of Blood Pressure, Left Ventricular Mass, Insulin Sensitivity, and Promotes Adiposity
<i>Camk2n1</i> Is a Negative Regulator of Blood Pressure, Left Ventricular Mass, Insulin Sensitivity, and Promotes Adiposity Open
Metabolic syndrome is a cause of coronary artery disease and type 2 diabetes mellitus. Camk2n1 resides in genomic loci for blood pressure, left ventricle mass, and type 2 diabetes mellitus, and in the spontaneously hypertensive rat model o…
View article: Complement Factor B Is a Determinant of Both Metabolic and Cardiovascular Features of Metabolic Syndrome
Complement Factor B Is a Determinant of Both Metabolic and Cardiovascular Features of Metabolic Syndrome Open
CFB (complement factor B) is elevated in adipose tissue and serum from patients with type 2 diabetes mellitus and cardiovascular disease, but the causal relationship to disease pathogenesis is unclear. Cfb is also elevated in adipose tissu…
View article: Des fragments d’ADN synthétisés par l’ADN polymérase α modifient notre génome
Des fragments d’ADN synthétisés par l’ADN polymérase α modifient notre génome Open
> Chez les eucaryotes, la réplication de l'ADN est bidirectionnelle.Malgré la capacité des enzymes à répliquer l'ADN avec une grande fidélité et l'existence de mécanismes de réparation, des mutations peuvent être générées au cours de cette…
View article: Lagging-strand replication shapes the mutational landscape of the genome
Lagging-strand replication shapes the mutational landscape of the genome Open