Publications by authors named "Johanna M Rieke"
Advances in molecular biology are improving our understanding of the genetic causes underlying human congenital lower urinary tract (i.e., bladder and urethral) malformations.
View Article and Find Full Text PDFCongenital anomalies of the kidney and urinary tract (CAKUT) constitute one of the most frequent birth defects and represent the most common cause of chronic kidney disease in the first three decades of life. Despite the discovery of dozens of monogenic causes of CAKUT, most pathogenic pathways remain elusive. We performed whole-exome sequencing (WES) in 551 individuals with CAKUT and identified a heterozygous de novo stop-gain variant in ZMYM2 in two different families with CAKUT.
View Article and Find Full Text PDFArticle Synopsis
- Previous research shows that a specific phosphate transporter is present in the pronephric kidneys of developing zebrafish and is linked to cloacal exstrophy, a defect affecting urinary tract development.
- The study used morpholino oligonucleotide knockdowns in zebrafish to observe that disruptions led to kidney malformations and voiding issues, resembling conditions seen in human cloacal exstrophy.
- Additional genetic analysis in 690 individuals with bladder exstrophy-epispadias complex revealed new variants linked to the condition, but phosphate transport itself didn't seem to be affected, suggesting other cellular mechanisms, like apoptosis, could play a role in the disease's development.