Electronic health records-based algorithms to screen for U.S. Centers for Disease Control and Prevention tier 1 genetic diseases: a scoping review. [PDF]
Harris WR +8 more
europepmc +1 more source
Raman‐based label‐free microscopic analysis of the pancreas in living zebrafish larvae
Forward stimulated Raman scattering (F‐SRS) and epi coherent anti‐Stokes Raman scattering (E‐CARS) allow label‐free discrimination of distinct subcellular structures in the pancreas of living zebrafish larvae. Given the straightforward applicability, we anticipate broad implementation of Raman microscopy in other organs and across various biomedical ...
Noura Faraj +3 more
wiley +1 more source
Knowledge and attitudes about rare genetic diseases among practitioners of oral medicine/pathology in Brazil: a cross-sectional study. [PDF]
Trezena S +7 more
europepmc +1 more source
CRISPRI‐mediated gene silencing and phenotypic exploration in nontuberculous mycobacteria. In this Research Protocol, we describe approaches to control, monitor, and quantitatively assess CRISPRI‐mediated gene silencing in M. smegmatis and M. abscessus model organisms.
Vanessa Point +7 more
wiley +1 more source
Proteome-wide prediction of the mode of inheritance and molecular mechanisms underlying genetic diseases using structural interactomics. [PDF]
Saadat A, Fellay J.
europepmc +1 more source
Erythropoietin administration suppresses hepatic soluble epoxide hydrolase (sEH) expression, leading to increased CYP‐derived epoxides. This is associated with a shift in hepatic macrophage polarization characterized by reduced M1 markers and increased M2 markers, along with reduced hepatic inflammation, suppressed hepatic lipogenesis, and attenuated ...
Takeshi Goda +12 more
wiley +1 more source
Bridging psychiatry and rare genetic diseases: a scoping review of therapeutic strategies and diagnostic delay paired with healthcare economic burden analysis. [PDF]
Garrison SR +8 more
europepmc +1 more source
We first identified functional murine mitochondrial N‐formyl peptides (MT‐FPs) and investigated their effects on the in vitro myeloid‐derived suppressor cell (MDSC) generation from bone marrow cells. We demonstrated that MT‐FPs acted directly on bone marrow cells to promote MDSC generation and modulated the polymorphonuclear (PMN)‐MDSC/monocyte (M ...
Miyako Ozawa +2 more
wiley +1 more source
Cost-effectiveness of population-based expanded reproductive carrier screening for genetic diseases in Australia: a microsimulation analysis. [PDF]
Schofield D +6 more
europepmc +1 more source
Single‐molecule DNA flow‐stretch assays for high‐throughput DNA–protein interaction studies
We describe an optimised single‐molecule DNA flow‐stretch assay that visualises DNA–protein interactions in real time. Linear DNA fragments are tethered to a surface and stretched by buffer flow for fluorescence imaging. Using λ and φX174 DNA, this protocol enhances reproducibility and accessibility, providing a versatile approach for studying diverse ...
Ayush Kumar Ganguli +8 more
wiley +1 more source

