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 …

Genetic, environmental, and epigenetic factors involved in CAKUT

N Nicolaou, KY Renkema, EMHF Bongers… - Nature Reviews …, 2015 - nature.com
Congenital anomalies of the kidney and urinary tract (CAKUT) refer to a spectrum of
structural renal malformations and are the leading cause of end-stage renal disease in …

A primer on congenital anomalies of the kidneys and urinary tracts (CAKUT)

V Murugapoopathy, IR Gupta - … Journal of the American society of …, 2020 - journals.lww.com
Congenital anomalies of the kidneys and urinary tracts (CAKUT) are disorders caused by
defects in the development of the kidneys and their outflow tracts. The formation of the …

Whole-exome sequencing identifies causative mutations in families with congenital anomalies of the kidney and urinary tract

AT Van Der Ven, DM Connaughton, H Ityel… - Journal of the …, 2018 - journals.lww.com
Background Congenital anomalies of the kidney and urinary tract (CAKUT) are the most
prevalent cause of kidney disease in the first three decades of life. Previous gene panel …

Microtia: epidemiology and genetics

DV Luquetti, CL Heike, AV Hing… - American Journal of …, 2012 - Wiley Online Library
Microtia is a congenital anomaly of the ear that ranges in severity from mild structural
abnormalities to complete absence of the ear, and can occur as an isolated birth defect or as …

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] Cat-Map: putting cataract on the map

A Shiels, TM Bennett, JF Hejtmancik - Molecular vision, 2010 - ncbi.nlm.nih.gov
Lens opacities, or cataract (s), may be inherited as a classic Mendelian disorder usually with
early-onset or, more commonly, acquired with age as a multi-factorial or complex trait. Many …

[HTML][HTML] Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

DY Hwang, GC Dworschak, S Kohl, P Saisawat… - Kidney international, 2014 - Elsevier
Congenital anomalies of the kidney and urinary tract (CAKUT) account for approximately
half of children with chronic kidney disease. CAKUT can be caused by monogenic …

Renal abnormalities and their developmental origin

A Schedl - Nature Reviews Genetics, 2007 - nature.com
Congenital abnormalities of the kidney and urinary tract (CAKUT) occur in 1 out of 500
newborns, and constitute approximately 20–30% of all anomalies identified in the prenatal …