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

…, S Kohl, S Engelmann, V Vega-Warner… - 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 …

[HTML][HTML] COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

…, L Salviati, TW Hurd, V Vega-Warner… - 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 …

[HTML][HTML] ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

…, S Woerner, LX Xie, V Vega-Warner… - The Journal of …, 2013 - Am Soc Clin Investig
Identification of single-gene causes of steroid-resistant nephrotic syndrome (SRNS) has
furthered the understanding of the pathogenesis of this disease. Here, using a combination of …

[HTML][HTML] Integrin α3 Mutations with Kidney, Lung, and Skin Disease

…, L Weibel, A Moeller, V Vega-Warner… - … England Journal of …, 2012 - Mass Medical Soc
<p id="p001">Integrin α<sub>3</sub> is a transmembrane integrin receptor subunit that
mediates signals between the cells and their microenvironment. We identified three patients …

[HTML][HTML] ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

…, S Ashraf, TW Hurd, V Vega-Warner… - The Journal of …, 2013 - Am Soc Clin Investig
Nephrotic syndrome (NS) is divided into steroid-sensitive (SSNS) and -resistant (SRNS)
variants. SRNS causes end-stage kidney disease, which cannot be cured. While the disease …

[HTML][HTML] KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

…, S Kohl, CE Sadowski, V Vega-Warner… - The Journal of …, 2015 - Am Soc Clin Investig
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of progressive renal function
decline and affects millions of people. In a recent study, 30% of SRNS cases evaluated …

[HTML][HTML] A systematic approach to mapping recessive disease genes in individuals from outbred populations

…, DS Schoeb, B Ovunc, SJ Allen, V Vega-Warner… - PLoS …, 2009 - journals.plos.org
The identification of recessive disease-causing genes by homozygosity mapping is often
restricted by lack of suitable consanguineous families. To overcome these limitations, we apply …

[HTML][HTML] Genetic drivers of kidney defects in the DiGeorge syndrome

…, CE Gillies, V Vega-Warner… - … 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 by …

[PDF][PDF] Mutations in EMP2 cause childhood-onset nephrotic syndrome

HY Gee, S Ashraf, X Wan, V Vega-Warner… - The American Journal of …, 2014 - cell.com
Nephrotic syndrome (NS) is a genetically heterogeneous group of diseases that are divided
into steroid-sensitive NS (SSNS) and steroid-resistant NS (SRNS). SRNS inevitably leads to …

[PDF][PDF] Defects of CRB2 cause steroid-resistant nephrotic syndrome

…, CE Sadowski, W Pabst, V Vega-Warner… - The American Journal of …, 2015 - cell.com
Nephrotic syndrome (NS), the association of gross proteinuria, hypoalbuminaemia, edema,
and hyperlipidemia, can be clinically divided into steroid-sensitive (SSNS) and steroid-…