Caspase 9-induced apoptosis enables efficient fetal cell ablation and disease modeling.

Fetal cell ablation models are crucial for studying congenital diseases, organ regeneration, and xenotransplantation. However, conventional knockout models offer limited control over disease severity, while conditional ablation models often require fetus-harming inducers. In the present study, we demonstrate that the inducible caspase 9 system enables precise targeting of fetal nephron progenitor cells in mice through the intrinsic apoptotic pathway.

De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms.

The CDKL (cyclin-dependent kinase-like) family consists of five members in humans, CDKL1-5, that encode serine-threonine kinases. The only member that has been associated with a Mendelian disorder is CDKL5, and variants in CDKL5 cause developmental and epileptic encephalopathy type 2 (DEE2). Here, we study four de novo variants in CDKL2 identified in five individuals, including three unrelated probands and monozygotic twins.

Genetic and protein structure prediction analyses identify a rare pathogenic PKD1 variant causing autosomal dominant polycystic kidney disease.

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common monogenic kidney disorders. The diagnosis of ADPKD requires imaging findings showing multiple kidney cysts or genetic testing, in cases where a family history is unknown. We report a patient diagnosed with ADPKD based on the identification of a rare PKD1 variant.

The long-term impact of single intraoperative instillation of pirarubicin after radical nephroureterectomy on local and systemic cancer control: a prospective, multicenter, randomized trial.

Purpose: Although the preventive effect against intravesical recurrence (IVR) has been established for single instillation of chemotherapy during or after radical surgery of upper urinary tract urothelial carcinoma (UTUC), there has been no research on the long-term outcome. This study aims to investigate the IVR and long-term survival outcome of a single intraoperative instillation of pirarubicin during radical nephroureterectomy (RNU).

Methods: In this prospective, multicenter, randomized trial, 97 patients undergoing RNU between August 2012 and January 2019 were randomly assigned either to receive a single intraoperative pirarubicin instillation or to serve as the controls.

Extracellular vesicles in renal cell carcinoma: A review of the current landscape and future directions.

Liquid biopsy, a minimally invasive biopsy method that uses patient body fluids (e.g., blood, urine, or saliva), is considered a useful biomarker for early diagnosis, monitoring of tumor progression, and evaluating treatment efficacy.