Leena Peltonen

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

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

Johanna Aaltonen, Petra Björses, Jaakko Perheentupa et al. · Nature Genetics · 1997 · 1.2K citations

Autoimmune Disease, Novel Gene, Autoantibody Production +11

Identification of a variant associated with adult-type hypolactasia

Nabil Enattah, Timo Sahi, Erkki Savilahti et al. · Nature Genetics · 2002 · 1K citations

Protist, Morphological Evidence, Adult-type Hypolactasia +1

Aire regulates negative selection of organ-specific T cells

Adrian Liston, Sylvie Lesage, Judith Wilson et al. · Nature Immunology · 2003 · 788 citations

Cell Signaling, T-regulatory Cell, Immunology +6

Mutations in Two Genes Encoding Different Subunits of a Receptor Signaling Complex Result in an Identical Disease Phenotype

Juha Paloneva, Tuula Manninen, Grant P. Christman et al. · The American Journal of Human Genetics · 2002 · 688 citations · Full text

Allelic Variant, Signal Transduction, Genetic Disorder +8