Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis

Protein structure prediction on the Web: a case study using the Phyre server

Lawrence A. Kelley, Michael J.E. Sternberg · Nature Protocols · 2009 · 4.2K citations

Life Sciences, Biochemistry, Bioinformatics +8

Positionally Cloned Gene for a Novel Glomerular Protein—Nephrin—Is Mutated in Congenital Nephrotic Syndrome

Marjo Kestilä, Ulla Lenkkeri, Minna Männikkö et al. · Molecular Cell · 1998 · 1.9K citations · Full text

Medicine, Genetics, Molecular Genetics +12

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

Nicolas Boute, Olivier Gribouval, Séverine Roselli et al. · Nature Genetics · 2000 · 1.4K citations

Medicine, Genetics, Nephrology +13

Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis

Joshua M. Kaplan, Sung Hyun Kim, Kathryn N. North et al. · Nature Genetics · 2000 · 1.2K citations

Medicine, Genetics, Molecular Genetics +12

A Mutation in the <i>TRPC6</i> Cation Channel Causes Familial Focal Segmental Glomerulosclerosis

Michelle P. Winn, Peter J. Conlon, Kelvin L. Lynn et al. · Science · 2005 · 1.1K citations

Medicine, Molecular Genetics, Nephrology +17