Action Myoclonus-Renal Failure Syndrome: A Case Report with Bioinformatic Annotations.

Action myoclonus-renal failure (AMRF) syndrome is a rare autosomal recessive disorder characterized by myoclonic epilepsy with occasional renal failure comorbidity. This study examines a consanguineous family with multiple members presenting myoclonic epilepsy. The disease's continued transmission within the family is attributable to a lack of genetic testing and the inability to establish a definitive diagnosis.

Proteomic identification of putative biomarkers of radiotherapy resistance: a possible role for the 26S proteasome?

Purpose: We aimed to identify putative predictive protein biomarkers of radioresistance.

Experimental Design: Three breast cancer cell lines (MCF7, MDA-MB-231, and T47D) were used as in vitro models to study radioresistance. Inherent radiosensitivities were examined using a clonogenic survival assay.