Concept

Molecular pathology

Related publications (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 ...

EPFL2023

Electronic readout of DNA amplification in nanoliter chambers. Strategies towards highly parallel semiconductor-based nucleic acid amplification testing.

Saurabh Tomar

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 ...

EPFL2023

Molecular 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 PRESS2022

Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss

Nicolas Jean Philippe Guex

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

Reverse engineering Lewy bodies: how far have we come and how far can we go?

Hilal Lashuel, Mohamed Bilal Fares, Somanath Jagannath

Lewy bodies (LBs) are α-synuclein (α-syn)-rich intracellular inclusions that are an important pathological hallmark of Parkinson disease and several other neurodegenerative diseases. Increasing evidence suggests that the aggregation of α-syn has a central ...

2021

Molecular profiling and functional analysis of macrophage-derived tumour extracellular vesicles

Tim Beltraminelli

Extracellular vesicles (EVs) are nanosized vesicles released by virtually all cell types. Increasing data suggest that EVs function in the regulation of intercellular communication both in physiological and pathological states. In cancer biology, mounting ...

EPFL2020

Mutations in VSX2, SOX2, and FOXE3 Identified in Patients with Micro-/Anophthalmia

Imen Habibi

Anophthalmia and microphthalmia (A/M) are rare distinct phenotypes that represent a continuum of structural developmental eye defects. Here, we describe three probands from an Egyptian population with various forms of A/M: two patients with bilateral anoph ...

2019

Identification and characterisation of small-molecule inhibitors targeting STING

Simone Margret Haag

The recognition of pathogen-derived nucleic acids is a critical mechanism by which the innate immune system detects viral infection. Upon activation, nucleic acid sensors initiate the expression of type I interferons and other inflammatory mediators, subse ...

EPFL2019

Molecular Profiling and Functional Analysis of Macrophage-Derived Tumor Extracellular Vesicles

Michele De Palma, Romain Hamelin, Bruno Torchia, Chiara Cianciaruso, Sina Nassiri, Tim Beltraminelli

Extracellular vesicles (EVs), including exosomes, modulate multiple aspects of cancer biology. Tumor-associated macrophages (TAMs) secrete EVs, but their molecular features and functions are poorly characterized. Here, we report methodology for the enrichm ...

2019

A biosensor for measuring NAD(+) levels at the point of care

Johan Auwerx, Kai Johnsson, Luc Patiny, Elena Katsyuba, Qiuliyang Yu, Lin Xue

The cellular level of nicotinamide adenine dinucleotide (NAD(+)), through its different functions, affects cellular metabolism and signalling(1-3). A decrease in the NAD(+) content has been associated with various pathologies and physiological aging(4,5), ...

NATURE PUBLISHING GROUP2019

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