ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

An In Vivo Functional Analysis System for Renal Gene Discovery in Drosophila Pericardial Nephrocytes

(2013) F. Zhang et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

(2012) Moumita Chaki et al.   CELL

Inducible Podocyte Injury and Proteinuria in Transgenic Zebrafish

(2012) W. Zhou et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Knocking Out Podocyte Rho GTPases: And the Winner Is...

(2012) M. A. Lal et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Podocyte-Specific Loss of Cdc42 Leads to Congenital Nephropathy

(2012) R. P. Scott et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Podocyte GTPases regulate kidney filter dynamics

(2012) Andreas D. Kistler et al.   KIDNEY INTERNATIONAL

Mechanisms of the proteinuria induced by Rho GTPases

(2012) Liming Wang et al.   KIDNEY INTERNATIONAL

Integrin α3Mutations with Kidney, Lung, and Skin Disease

(2012) Cristina Has et al.   NEW ENGLAND JOURNAL OF MEDICINE

Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome

(2011) Fatih Ozaltin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2011) Shreeram Akilesh et al.   JOURNAL OF CLINICAL INVESTIGATION

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

(2011) Saskia F. Heeringa et al.   JOURNAL OF CLINICAL INVESTIGATION

Activation of RhoA in Podocytes Induces Focal Segmental Glomerulosclerosis

(2011) L. Zhu et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

The 'invisible hand': regulation of RHO GTPases by RHOGDIs

(2011) Rafael Garcia-Mata et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

MYO1EMutations and Childhood Familial Focal Segmental Glomerulosclerosis

(2011) Caterina Mele et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectruma

(2010) Verena Matejas et al.   HUMAN MUTATION

Regulation of Rho GTPase crosstalk, degradation and activity by RhoGDI1

(2010) Etienne Boulter et al.   NATURE CELL BIOLOGY

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

(2010) Edgar A Otto et al.   NATURE GENETICS

Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life

(2009) Friedhelm Hildebrandt et al.   KIDNEY INTERNATIONAL

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

(2009) Elizabeth J Brown et al.   NATURE GENETICS

A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

(2009) Friedhelm Hildebrandt et al.   PLoS Genetics

EBV Immortalization of human B lymphocytes separated from small volumes of cryo-preserved whole blood

(2008) M. Amoli et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE

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

(2008) Shigeru Shibata et al.   NATURE MEDICINE

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

(2008) Christian Faul et al.   NATURE MEDICINE

Mammalian Rho GTPases: new insights into their functions from in vivo studies

(2008) Sarah J. Heasman et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing

(2007) Edgar A. Otto et al.   HUMAN MUTATION