Christer Holmberg

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

Glomerulonephritis, Developmental Biology, Genetic Disorder +10

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 · 755 citations · Full text

Glomerular Disease, Renal Pathology, Cytoskeleton +17

Mutations of the Down–regulated in adenoma (DRA) gene cause congenital chloride diarrhoea

Pia Höglund, Siru Haila, Jerzy Socha et al. · Nature Genetics · 1996 · 415 citations

Genetic Disorder, Genetics, Gastroenterology +3

Structure of the Gene for Congenital Nephrotic Syndrome of the Finnish Type (NPHS1) and Characterization of Mutations

Ulla Lenkkeri, Minna Männikkö, Paula McCready et al. · The American Journal of Human Genetics · 1999 · 398 citations · Full text

Mendelian Disorder, Genetic Disorder, Congenital Nephrotic Syndrome +8

Congenital nephrotic syndrome (NPHS1): Features resulting from different mutations in Finnish patients

Jaakko Patrakka, Marjo Kestilä, Jorma Wartiovaara et al. · Kidney International · 2000 · 300 citations · Full text

Urology, Mendelian Disorder, Finnish Patients +12