ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

HY Gee, P Saisawat, S Ashraf, TW Hurd… - 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 …

ARHGDIA: a novel gene implicated in nephrotic syndrome

IR Gupta, C Baldwin, D Auguste, KCH Ha… - Journal of medical …, 2013 - jmg.bmj.com
Background Congenital nephrotic syndrome arises from a defect in the glomerular filtration
barrier that permits the unrestricted passage of protein across the barrier, resulting in …

Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis

S Akilesh, H Suleiman, H Yu… - The Journal of …, 2011 - Am Soc Clin Investig
The specialized epithelial cell of the kidney, the podocyte, has a complex actin-based
cytoskeleton. Dynamic regulation of this cytoskeleton is required for efficient barrier function …

mTOR-activating mutations in RRAGD are causative for kidney tubulopathy and cardiomyopathy

KP Schlingmann, F Jouret, K Shen… - Journal of the …, 2021 - journals.lww.com
Background Over the last decade, advances in genetic techniques have resulted in the
identification of rare hereditary disorders of renal magnesium and salt handling …

GAPVD1 and ANKFY1 mutations implicate RAB5 regulation in nephrotic syndrome

T Hermle, R Schneider, D Schapiro… - Journal of the …, 2018 - journals.lww.com
Background Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of CKD. The
discovery of monogenic causes of SRNS has revealed specific pathogenetic pathways, but …

Modification of mineralocorticoid receptor function by Rac1 GTPase: implication in proteinuric kidney disease

S Shibata, M Nagase, S Yoshida, W Kawarazaki… - Nature medicine, 2008 - nature.com
Blockade of mineralocorticoid receptor has been shown to improve the clinical outcomes of
proteinuric kidney diseases,. However, little is known about the regulation of …

Rac1 GTPase in rodent kidneys is essential for salt-sensitive hypertension via a mineralocorticoid receptor–dependent pathway

S Shibata, SY Mu, H Kawarazaki… - The Journal of …, 2011 - Am Soc Clin Investig
Hypertension is a leading contributor to cardiovascular mortality worldwide. Despite this, its
underlying mechanism (s) and the role of excess salt in cardiorenal dysfunction are unclear …

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

S Ashraf, HY Gee, S Woerner, LX Xie… - 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 …

Activation of Rac1-Mineralocorticoid Receptor Pathway Contributes to Renal Injury in Salt-Loaded db/db Mice

D Hirohama, M Nishimoto, N Ayuzawa… - …, 2021 - Am Heart Assoc
The progression of diabetic kidney disease (DKD), a leading cause of end-stage kidney
disease, involves mineralocorticoid receptor (MR) activation. We previously identified …

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

S Ashraf, H Kudo, J Rao, A Kikuchi, E Widmeier… - Nature …, 2018 - nature.com
No efficient treatment exists for nephrotic syndrome (NS), a frequent cause of chronic kidney
disease. Here we show mutations in six different genes (MAGI2, TNS2, DLC1, CDK20 …