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Myotonic dystrophes (DM), the most common adult muscular dystrophy, are the first recognized examples of RNA-mediated diseases in which expression of mutant RNAs containing expanded CUG or CCUG repeats interfere with the splicing of other mRNAs. Using whole-genome microarrays, we found that alternat...
ORGANISM(S): Homo sapiens 
The gene BIN1 is the second-largest genetic risk factor for late-onset Alzheimer’s disease (LOAD). BIN1 is expressed in neurons and glia in the brain as multiple isoforms, including neuron-specific and ubiquitously expressed isoforms. BIN1 is an adaptor protein that regulates membrane dynamics in ma...
ORGANISM(S): Mus musculus (Mouse) 
2025-08-22 | PXD060638 | Pride
Slow-transit constipation (STC) is a debilitating disorder of colonic motility with poorly defined molecular underpinnings. While abnormalities in the enteric nervous system and interstitial cells of Cajal have been extensively studied, smooth-muscle–intrinsic mechanisms remain largely unexplored. H...
ORGANISM(S): Homo sapiens (Human) 
2026-09-07 | PXD069723 | Pride
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