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 …

Cell biology and pathology of podocytes

A Greka, P Mundel - Annual review of physiology, 2012 - annualreviews.org
As an integral member of the filtration barrier in the kidney glomerulus, the podocyte is in a
unique geographical position: It is exposed to chemical signals from the urinary space …

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

CE Sadowski, S Lovric, S Ashraf… - Journal of the …, 2015 - journals.lww.com
Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of ESRD in
the first two decades of life. Effective treatment is lacking. First insights into disease …

Specialized roles for cysteine cathepsins in health and disease

J Reiser, B Adair, T Reinheckel - The Journal of clinical …, 2010 - Am Soc Clin Investig
Cathepsins were originally identified as proteases that act in the lysosome. Recent work has
uncovered nontraditional roles for cathepsins in the extracellular space as well as in the …

The actin cytoskeleton of kidney podocytes is a direct target of the antiproteinuric effect of cyclosporine A

C Faul, M Donnelly, S Merscher-Gomez, YH Chang… - Nature medicine, 2008 - nature.com
The immunosuppressive action of the calcineurin inhibitor cyclosporine A (CsA) stems from
the inhibition of nuclear factor of activated T cells (NFAT) signaling in T cells. CsA is also …

Glomerular-specific alterations of VEGF-A expression lead to distinct congenital and acquired renal diseases

V Eremina, M Sood, J Haigh, A Nagy… - The Journal of …, 2003 - Am Soc Clin Investig
Kidney disease affects over 20 million people in the United States alone. Although the
causes of renal failure are diverse, the glomerular filtration barrier is often the target of injury …

TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function

J Reiser, KR Polu, CC Möller, P Kenlan, MM Altintas… - Nature …, 2005 - nature.com
Progressive kidney failure is a genetically and clinically heterogeneous group of disorders.
Podocyte foot processes and the interposed glomerular slit diaphragm are essential …

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

SF Heeringa, G Chernin, M Chaki… - The Journal of …, 2011 - Am Soc Clin Investig
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure.
Identification of single-gene causes of SRNS has generated some insights into its …

Podocyte biology and response to injury

P Mundel, SJ Shankland - Journal of the American Society of …, 2002 - journals.lww.com
The visceral glomerular epithelial cell, also called podocyte, is a terminally differentiated cell
that lines the outer aspect of the glomerular basement membrane (GBM). It therefore forms …

Laminin functions in tissue morphogenesis

JH Miner, PD Yurchenco - Annu. Rev. Cell Dev. Biol., 2004 - annualreviews.org
▪ Abstract Significant advances have been made in the application of genetics to probe the
functions of basement membrane laminins. These studies have shown that different laminin …