Researchers led by the Institute of Molecular and Clinical Ophthalmology Basel uncovered disease-causing variants in ...

This is a preview. Log in through your library . Abstract Alopecia, neurologic defects, and endocrinopathy (ANE) syndrome is a rare ribosomopathy known to be caused by a p.(Leu351Pro) variant in the ...

Microalgae contribute significantly to carbon fixation on Earth. Global warming influences their physiology and growth rates. To understand algal short-term acclimation and adaptation to changes in ...

Mechano-Growth Factor (MGF), often referred to as the IGF-1 Ec isoform (or IGF-1 Eb), is a splice variant of the insulin-like ...

Genetic variants in core-spliceosome components are tied to a variety of aberrant splicing-driven inherited disorders. CWF19-like protein 2 (CWF19L2) is such a key component located in the spliceosome ...

“We just suddenly had enough information about the biology of disease really by using these human stem cell models that a therapeutic opportunity just became a possibility,” he said. Paşca’s group ...

Transcriptomic Profiling of Primary Prostate Cancers and Nonlocalized Disease on Prostate-Specific Membrane Antigen Positron Emission Tomography/Computed Tomography: A Multicenter Retrospective Study ...