M. Rubinstein

Activity-driven chromatin organization during interphase: compaction, segregation, and entanglement suppression

This paper develops a theory and validates it with simulations showing that active loop extrusion by cohesin causes chromatin compaction, TAD segregation, and suppression of entanglements during interphase.

Complex biophysical changes and reduced neuronal firing in an SCN8A variant associated with developmental delay and epilepsy

This study characterizes the biophysical and neurophysiological effects of the SCN8A p.(Gly1625Arg) mutation, showing a complex mix of gain-and loss-of-function properties leading to reduced neuronal firing.

Hyperconcentrated Mucus Unifies Submucosal Gland and Superficial Airway Dysfunction in Cystic Fibrosis

This study identifies hyperconcentrated mucus as a unifying mechanism for submucosal gland and superficial airway dysfunction in cystic fibrosis.

Striatin is required for hearing and affects inner hair cells and ribbon synapses

This study shows that striatin is essential for hearing, with its deficiency causing high-frequency hearing loss and ribbon synapse abnormalities in mice.

Positive Selection and Adaptation of Novel Inner Ear Genes in the Mammalian Lineage

This study identifies genes under positive selection in the mammalian inner ear lineage and shows their functional relevance in auditory function.