NPHS2 mutation analysis shows genetic heterogeneityof steroid-resistant nephrotic syndrome and lowpost-transplant recurrence

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

Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome

Jerry Pelletier, Wendy Bruening, Clifford E. Kashtan et al. · Cell · 1991 · 954 citations

Medicine, Genetics, Molecular Genetics +17

Donor splice-site mutations in WT1 are responsible for Frasier syndrome

Sandrine Barbaux, Patrick Niaudet, Marie-Claire Gübler et al. · Nature Genetics · 1997 · 748 citations

Life Sciences, Genetics, Molecular Genetics +6