Genetic kidney diseases

F Hildebrandt - The Lancet, 2010 - thelancet.com
Knowledge of the primary cause of a disease is essential for elucidation of its mechanisms,
and for adequate classification, prognosis, and treatment. Recently, the causes of many …

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

A Vivante, S Kohl, DY Hwang, GC Dworschak… - Pediatric …, 2014 - Springer
Congenital anomalies of the kidney and urinary tract (CAKUT) cover a wide range of
structural malformations that result from defects in the morphogenesis of the kidney and/or …

[HTML][HTML] 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 …

Novel insights into the pathogenesis of monogenic congenital anomalies of the kidney and urinary tract

AT van der Ven, A Vivante… - Journal of the American …, 2018 - journals.lww.com
Congenital anomalies of the kidneys and urinary tract (CAKUT) comprise a large spectrum
of congenital malformations ranging from severe manifestations, such as renal agenesis, to …

Genetics of congenital anomalies of the kidney and urinary tract

R Song, IV Yosypiv - Pediatric nephrology, 2011 - Springer
Congenital anomalies of the kidney and urinary tract (CAKUT) occur in 1 in 500 births and
are a major cause of morbidity in children. Notably, CAKUT account for the most cases of …

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 …

Analysis of alternative polyadenylation from single-cell RNA-seq using scDaPars reveals cell subpopulations invisible to gene expression

Y Gao, L Li, CI Amos, W Li - Genome research, 2021 - genome.cshlp.org
Alternative polyadenylation (APA) is a major mechanism of post-transcriptional regulation in
various cellular processes including cell proliferation and differentiation, but the APA …

Sonic hedgehog is a novel tubule-derived growth factor for interstitial fibroblasts after kidney injury

D Zhou, Y Li, L Zhou, RJ Tan, L Xiao… - Journal of the …, 2014 - journals.lww.com
Tubular epithelium constitutes the majority of the renal parenchyma and is the primary target
of various kidney injuries. However, how the injured tubules drive interstitial fibroblast …

What's in a bug report?

S Davies, M Roper - Proceedings of the 8th ACM/IEEE International …, 2014 - dl.acm.org
Context: Bug reports are the primary means by which users of a system are able to
communicate a problem to the developers, and their contents are important-not only to …

Morphogenesis and molecular mechanisms involved in human kidney development

G Faa, C Gerosa, D Fanni, G Monga… - Journal of cellular …, 2012 - Wiley Online Library
The development of the human kidney is a complex process that requires interactions
between epithelial and mesenchymal cells, eventually leading to the coordinated growth …