SANNA-CHERCHI S.

Molecular biology has developed between years 1940s and 1960s as a branch of science that spans from genetics to cell biology and biochemistry with the goal of understanding the interactions by which DNA, RNA, and protein synthesis operate into cells [1]. Since then, numerous technological innovations pushed the field forward, allowing...

Significance statement: Congenital obstructive uropathy (COU) is a prevalent human developmental defect with highly heterogeneous clinical presentations and outcomes. Genetics may refine diagnosis, prognosis, and treatment, but the genomic architecture of COU is largely unknown. Comprehensive genomic screening study of 733 cases with three...

BACKGROUND: Vesicoureteral reflux (VUR) is a common, familial genitourinary disorder, and a major cause of pediatric urinary tract infection (UTI) and kidney failure. The genetic basis of VUR is not well understood. METHODS: A diagnostic analysis sought rare, pathogenic copy number variant (CNV) disorders among 1737 patients with VUR. A GWAS...