Results 121 to 130 of about 134,584 (262)
Monilethrix, a rare inherited hair shaft disorder in siblings
Rita V Vora +2 more
doaj +1 more source
Reprogramming tumor cells with LCOR mRNA nanotherapy to enhance immunotherapy
LCOR (Ligand‐dependent corepressor) mRNA encapsulated in polymeric nanoparticles restores LCOR activity in tumor cells, constraining aggressive tumor cell states and increasing tumor immunogenicity. This reprogramming makes tumor cells more vulnerable to T‐cell attack and enhances their response to immune‐checkpoint immunotherapy.
Gabriel Serra‐Mir +9 more
wiley +1 more source
Pregnancy outcomes among women with inherited bleeding disorders: A matched case-control study. [PDF]
Mansouri Z +10 more
europepmc +1 more source
RoboMic is an automated confocal microscopy pipeline for high‐throughput functional imaging in living cells. Demonstrated with fluorescence recovery after photobleaching (FRAP), it integrates AI‐driven nuclear segmentation, ROI selection, bleaching, and analysis.
Selçuk Yavuz +6 more
wiley +1 more source
When two rare diseases meet: atypical hemolytic uremic syndrome and alkaptonuria in two siblings. [PDF]
Karaca C +5 more
europepmc +1 more source
RoundMi: A quantitative method to analyze mitochondrial morphology in mitotic cells
RoundMi is a workflow for rapid analysis of mitochondrial morphology in mitotic cells. By combining adaptive preprocessing with automated segmentation and quantification, it enables accurate measurements from single focal plane images, reducing acquisition time and computational demands while remaining compatible with high‐throughput fixed and live ...
Elmira Parvindokht Bararpour +2 more
wiley +1 more source
A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders. [PDF]
McCarron EP +7 more
europepmc +1 more source
UiO‐66(Zr) metal–organic frameworks are chemically stable, biocompatible, and highly tunable nanomaterials. Their modular structure enables controlled drug delivery, multimodal bioimaging, and light‐activated photodynamic therapy, supporting integrated diagnostic and therapeutic (theranostic) applications in cancer and biomedical research.
Veronika Huntošová +2 more
wiley +1 more source
Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method. [PDF]
Stolwijk NN +6 more
europepmc +1 more source
Directed evolution of enzymes at the crossroads of tradition and innovation
An iterative cycle of data‐driven enzyme optimization comprising four stages: genetic diversification of a template enzyme, expression of protein variants, high‐throughput evaluation, and machine‐learning‐guided redesign of the next variant library.
Maria Tomkova +2 more
wiley +1 more source

