Concept
Pathologie moléculaire
Publications associées (26)
Enabling Stroke Theranostics with Hyperpolarized Magnetic Resonance
The severe social and economic burden of stroke is a strong motivation for the exploration of innovative medical approaches. In this context, magnetic resonance (MR) of hyperpolarized (HP) molecular agents via dissolution dynamic nuclear polarization (dDNP ...
EPFL2023Electronic readout of DNA amplification in nanoliter chambers. Strategies towards highly parallel semiconductor-based nucleic acid amplification testing.
Polymerase chain reaction (PCR) has been the most significant driver in the field of nucleic acid testing (NAT) since its invention. Popularized as an abbreviation by the Covid-19 pandemic, PCR-based methods are the gold standard in the field of diagnostic ...
EPFL2023Molecular profiling of stem cell-derived retinal pigment epithelial cell differentiation established for clinical translation
Gioele La Manno, Alex Russell Lederer, Irina Khven
Human embryonic stem cell-derived retinal pigment epithelial cells (hESC-RPE) are a promising cell source to treat age-related macular degeneration (AMD). Despite several ongoing clinical studies, a detailed mapping of transient cellular states during in v ...
CELL PRESS2022Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss
Non-Syndromic Hereditary Hearing Loss (NSHHL) is a genetically heterogeneous sensory disorder with about 120 genes already associated. Through exome sequencing (ES) and data aggregation, we identified a family with six affected individuals and one unrelate ...
2021