Burcak Ozes

TL;DR: Aggregate analysis of mutation data revealed a significantly increased number of rare variants across 58 neuropathy-associated genes in subjects versus controls, suggesting that mutation burden potentially contributes to phenotypic variability.

TL;DR: KIF1C is the third kinesin gene involved in the pathogenesis of HSPs and is characterized by a mild dominant and a more severe recessive disease phenotype, which supports the key role of intracellular trafficking processes in the course of hereditary axonopathies.

TL;DR: Interestingly, all identified mutations were affecting the highly conserved patatin‐like phospholipase domain of the PLA2G6 protein.

TL;DR: An unbiased genetic approach identified pathogenic mutations in ten ARCMT genes in a total of 41 patients, and proposed guidelines for tackling the genetic heterogeneity of this group of hereditary neuropathies.

TL;DR: The findings suggest SIK2 as a potential tumor suppressor in the control of breast tumorigenesis, at least in part, via inhibiting PI3K/Akt and Ras/ERK signaling cascades simultaneously and a novel prognostic marker, especially in basal subtypes of breast cancer.