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Article
Open AccessValrubicin-loaded immunoliposomes for specific vesicle-mediated cell death in the treatment of hematological cancers
We created valrubicin-loaded immunoliposomes (Val-ILs) using the antitumor prodrug valrubicin, a hydrophobic analog of daunorubicin. Being lipophilic, valrubicin readily incorporated Val-lLs that were loaded w...
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Article
Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients
Beyond the identification of causal genetic variants in the diagnosis of Mendelian disorders, exome sequencing can detect numerous variants with potential relevance for clinical care. Clinical interventions ca...
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Article
Open AccessIntegration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes
Structural variants are a common cause of disease and contribute to a large extent to inter-individual variability, but their detection and interpretation remain a challenge. Here, we investigate 11 individual...
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Article
Open AccessiPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells
Despite increasing insight into the genetics of infertility, the developmental disease processes remain unclear due to the lack of adequate experimental models. The advent of induced pluripotent stem cell (iPS...
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Article
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders
Developmental disorders (DD), characterized by malformations/dysmorphism and/or intellectual disability, affecting around 3% of worldwide population, are mostly linked to genetic anomalies. Despite clinical ex...
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Article
Open AccessHigh-fat diet intensifies MLL-AF9-induced acute myeloid leukemia through activation of the FLT3 signaling in mouse primitive hematopoietic cells
Using a MLL-AF9 knock-in mouse model, we discovered that consumption of a high-fat diet (HFD) accelerates the risk of develo** acute myeloid leukemia (AML). This regimen increases the clusterization of FLT3 wit...
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Article
Open AccessPotential added value of a RT-qPCR method of SOX 11 expression, in the context of a multidisciplinary diagnostic assessment of B cell malignancies
Expression of SRY [sex-determining region Y]-box11 (SOX11) is specific to mantle cell lymphoma (MCL) and contributes, in conjunction with immunoglobulin variable heavy chain gene mutation status, to the identi...
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Article
Open Access6q16.3q23.3 duplication associated with Prader-Willi-like syndrome
Prader-Willi syndrome (PWS) is characterized by hypotonia, delayed neuropsychomotor development, overeating, obesity and mental deficiency. This phenotype is encountered in other conditions, defining Prader-Willi...
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Article
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans
Andrea Ventura and colleagues report germline hemizygous deletions in the miR-17~92 cluster in individuals with features overlap** Feingold syndrome. Mice with targeted deletions in miR17~92 also display gro...
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Article
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Underweight and obese phenotypes can both pose health risks. But whereas obesity has been associated with a number of genetic variants, little is known about the genetic basis of underweight. A large-scale scr...
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Article
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome
Nazneen Rahman and colleagues show that biallelic, loss-of-function mutations in CEP57 cause a constitutional mosaic aneuploidy syndrome. These findings show that CEP57 function is crucial for maintaining correct...
