Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 2 of 2 for “"Shwachman–Diamond syndrome"”.
-
INTEGRATED TRANSCRIPTOMIC AND TRANSLATIONAL PROFILING OF EIF6-SBDS IN SHWACHMAN-DIAMOND SYNDROM REVEALS DIFFERENT CELLULAR STATES SHAPED BY RIBOSOME COMPOSITION AND FIDELITY
… translational output and lead to human disease. Shwachman–Diamond syndrome (SDS) exemplifies this class of disorders. Caused by biallelic loss-of-function mutations in SBDS, SDS is characterised by exocrine pancreatic dysfunction, growth impairment, bone-marrow failure, and a markedly increased …
-
COMPUTATIONAL MULTISCALE INVESTIGATIONS OF BIOLOGICAL MOLECULES
… of the conformational space of the Shwachman-Bodian-Diamond syndrome (SBDS) protein, a critical component involved in cellular processes. Specifically, this research employs all-atom molecular dynamics simulations to study the wild-type SBDS and 12 missense mutations of clinical …