Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology

TRPC6 mutations associated with focal segmental glomerulosclerosis cause constitutive activation of NFAT-dependent transcription

(2009) Johannes Schlöndorff et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Predisposition to relapsing nephrotic syndrome by a nephrin mutation that interferes with assembly of functioning microdomains

(2009) Akemi Shono et al.   HUMAN MOLECULAR GENETICS

Susceptibility loci for murine HIV-associated nephropathy encode trans-regulators of podocyte gene expression

(2009) Natalia Papeta et al.   JOURNAL OF CLINICAL INVESTIGATION

Loss of Podocyte aPKC /  Causes Polarity Defects and Nephrotic Syndrome

(2009) T. B. Huber et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant

(2009) Eduardo Machuca et al.   KIDNEY INTERNATIONAL

CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS)

(2009) M. Gigante et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

(2008) Samuel F. Berkovic et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neph-Nephrin Proteins Bind the Par3-Par6-Atypical Protein Kinase C (aPKC) Complex to Regulate Podocyte Cell Polarity

(2008) Björn Hartleben et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Maternal Environment Interacts with Modifier Genes to Influence Progression of Nephrotic Syndrome

(2008) J. Ratelade et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

2007 Young Investigator Award: TRP'ing into a New Era for Glomerular Disease

(2008) M. P. Winn   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Specific Podocin Mutations Correlate with Age of Onset in Steroid-Resistant Nephrotic Syndrome

(2008) B. Hinkes et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Nephrin Mutations Can Cause Childhood-Onset Steroid-Resistant Nephrotic Syndrome

(2008) A. Philippe et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

MYH9 is associated with nondiabetic end-stage renal disease in African Americans

(2008) W H Linda Kao et al.   NATURE GENETICS

MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis

(2008) Jeffrey B Kopp et al.   NATURE GENETICS

Early Coenzyme Q10 Supplementation in Primary Coenzyme Q10 Deficiency

(2008) Giovanni Montini et al.   NEW ENGLAND JOURNAL OF MEDICINE

Exclusion of homozygous PLCE1 (NPHS3) mutations in 69 families with idiopathic and hereditary FSGS

(2008) Rasheed Gbadegesin et al.   PEDIATRIC NEPHROLOGY

Variable phenotype of Pierson syndrome

(2008) Hyun Jin Choi et al.   PEDIATRIC NEPHROLOGY

Properties of the Glomerular Barrier and Mechanisms of Proteinuria

(2008) Börje Haraldsson et al.   PHYSIOLOGICAL REVIEWS

Nephrin mediates actin reorganization via phosphoinositide 3-kinase in podocytes

(2007) J. Zhu et al.   KIDNEY INTERNATIONAL