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The runt-domain family of transcription factors (RUNX) have long been known to have a role in leukemogenesis and neoplasia. New evidence suggests a central role for these proteins in the development of autoimmunity.
A new study shows that mutations in Col6a, encoding collagen VI, cause muscle degeneration by affecting a distant target, the mitochondrion. The results show how elucidating the cellular consequences of genetic defects may provide unexpected perspectives into disease mechanism.
A new study shows that the kinase WNK4 is a molecular switch that regulates the trafficking of both a sodium-chloride cotransporter and a potassium channel in the kidney. This finding suggests a key role for WNK4 in ion homeostasis in health and disease.
Silencing gene expression by RNA interference (RNAi) has become a daily activity for mammalian cell biologists. Those who often use this approach have come to appreciate its occasional frustrations and potential limitations. A pair of recent papers in Cell provides rules for designing short interfering RNAs (siRNAs) that are both validated at the practical level and understood mechanistically.