Exploring the genetic basis of early-onset chronic kidney disease

A Vivante, F Hildebrandt - Nature Reviews Nephrology, 2016 - nature.com
The primary causes of chronic kidney disease (CKD) in children differ from those of CKD in
adults. In the USA the most common diagnostic groups of renal disease that manifest before …

Early eye development in vertebrates

RL Chow, RA Lang - Annual review of cell and developmental …, 2001 - annualreviews.org
▪ Abstract This review provides a synthesis that combines data from classical
experimentation and recent advances in our understanding of early eye development …

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 …

Sex determination and differentiation

DT MacLaughlin, PK Donahoe - New England Journal of …, 2004 - Mass Medical Soc
This review elucidates the molecular mechanisms of sex determination and sex
differentiation with examples from embryology, animal models, and clinical syndromes. Sex …

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 …

Gene expression in Wilms' tumor mimics the earliest committed stage in the metanephric mesenchymal-epithelial transition

CM Li, M Guo, A Borczuk, CA Powell, M Wei… - The American journal of …, 2002 - Elsevier
Wilms' tumor (WT) has been considered a prototype for arrested cellular differentiation in
cancer, but previous studies have relied on selected markers. We have now performed an …

The mouse Pax21Neu mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain …

J Favor, R Sandulache… - Proceedings of the …, 1996 - National Acad Sciences
We describe a new mouse frameshift mutation (Pax2 1Neu) with a 1-bp insertion in the Pax2
gene. This mutation is identical to a previously described mutation in a human family with …

The genetic and molecular basis of congenital eye defects

J Graw - Nature Reviews Genetics, 2003 - nature.com
The mature eye is a complex organ that develops through a highly organized process during
embryogenesis. Alterations in its genetic programming can lead to severe disorders that …

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 …

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus‐specific database

M Bower, R Salomon, J Allanson, C Antignac… - Human …, 2012 - Wiley Online Library
Renal coloboma syndrome, also known as papillorenal syndrome is an autosomal‐
dominant disorder characterized by ocular and renal malformations. Mutations in the paired …