Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome

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

The candidate Wilms' tumour gene is involved in genitourinary development

Kathy Pritchard‐Jones, Stewart Fleming, Duncan Davidson et al. · Nature · 1990 · 879 citations

Medicine, Genetics, Molecular Genetics +13

Nephrin is specifically located at the slit diaphragm of glomerular podocytes

Vesa Ruotsalainen, Päivi Ljungberg, Jorma Wartiovaara et al. · Proceedings of the National Academy of Sciences · 1999 · 762 citations

Medicine, Molecular Biology, Nephrology +16