The genetics and pathogenesis of CAKUT

CM Kolvenbach, S Shril, F Hildebrandt - Nature Reviews Nephrology, 2023 - nature.com
Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a large variety of
malformations that arise from defective kidney or urinary tract development and frequently …

Genetics of congenital anomalies of the kidney and urinary tract: the current state of play

VP Capone, W Morello, F Taroni, G Montini - International journal of …, 2017 - mdpi.com
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most frequent form of
malformation at birth and represent the cause of 40–50% of pediatric and 7% of adult end …

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

M Verbitsky, R Westland, A Perez, K Kiryluk, Q Liu… - Nature …, 2019 - nature.com
Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric
kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in …

Genomic medicine for kidney disease

EE Groopman, HM Rasouly, AG Gharavi - Nature Reviews Nephrology, 2018 - nature.com
Technologies such as next-generation sequencing and chromosomal microarray have
advanced the understanding of the molecular pathogenesis of a variety of renal disorders …

Genetic drivers of kidney defects in the DiGeorge syndrome

E Lopez-Rivera, YP Liu, M Verbitsky… - … England Journal of …, 2017 - Mass Medical Soc
Background The DiGeorge syndrome, the most common of the microdeletion syndromes,
affects multiple organs, including the heart, the nervous system, and the kidney. It is caused …

Developmental pathology of congenital kidney and urinary tract anomalies

S Jain, F Chen - Clinical kidney journal, 2019 - academic.oup.com
Congenital anomalies of the kidneys or lower urinary tract (CAKUT) are the most common
causes of renal failure in children and account for 25% of end-stage renal disease in adults …

The genetic basis of congenital anomalies of the kidney and urinary tract

M Kagan, O Pleniceanu, A Vivante - Pediatric Nephrology, 2022 - Springer
During the past decades, remarkable progress has been made in our understanding of the
molecular basis of kidney diseases, as well as in the ability to pinpoint disease-causing …

Renal development in the fetus and premature infant

S Rosenblum, A Pal, K Reidy - Seminars in Fetal and Neonatal Medicine, 2017 - Elsevier
Congenital abnormalities of the kidney and urinary tract (CAKUT) are one of the leading
congenital defects to be identified on prenatal ultrasound. CAKUT represent a broad …

Targeted exome sequencing identifies PBX1 as involved in monogenic congenital anomalies of the kidney and urinary tract

L Heidet, V Morinière, C Henry… - Journal of the …, 2017 - journals.lww.com
Congenital anomalies of the kidney and urinary tract (CAKUT) occur in three to six of 1000
live births, represent about 20% of the prenatally detected anomalies, and constitute the …

Exome-wide association study identifies GREB1L mutations in congenital kidney malformations

S Sanna-Cherchi, K Khan, R Westland… - The American Journal of …, 2017 - cell.com
Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney
disease and are highly genetically heterogeneous. We conducted whole-exome sequencing …