Jouni Uitto

Papillon–Lefèvre Syndrome: Mutations and Polymorphisms in the Cathepsin C Gene

Aoi Nakano, Hajime Nakano, Sal LaForgia et al. · Journal of Investigative Dermatology · 2001 · 73 citations · Full text

Genetics, Pathogenesis, Genetic Epidemiology +4

Prenatal Diagnosis for Recessive Dystrophic Epidermolysis Bullosa in 10 Families by Mutation and Haplotype Analysis in the Type VII Collagen Gene (COL7A1)

Angela M. Christiano, Sal LaForgia, Amy S. Paller et al. · Molecular Medicine · 1996 · 55 citations · Full text

Haplotype Analysis, Genetics, Pathology +4

Different Frequency of Gene Targeting Events by the RNA-DNA Oligonucleotide Among Epithelial Cells

Evelyn Santana, Adam E. Peritz, Subramanian Iyer et al. · Journal of Investigative Dermatology · 1998 · 52 citations · Full text

Different Frequency, Genetics, Epithelial Cells +9

A Glycine-to-Arginine Substitution in the Triple-Helical Domain of Type VII Collagen in a Family with Dominant Dystrophic Epidermolysis Bullosa Pruriginosa

Julia Yu-Yun Lee, Leena Pulkkinen, Hsiao‐Sheng Liu et al. · Journal of Investigative Dermatology · 1997 · 52 citations · Full text

Triple-helical Domain, Glycine-to-arginine Substitution, Cutaneous Biology +8

Regulation of Elastin Gene Expression: Evidence for Functional Promoter Activity in the 5′-Flanking Region of the Human Gene

Michael Fazio, Veli‐Matti Kähäri, Muhammad M. Bashir et al. · Journal of Investigative Dermatology · 1990 · 45 citations

Transcriptional Regulation, Protein Expression, Molecular Regulation +10