Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

By S. Chavanas, C. Bodemer, A. Rochat, D. Hamel-Teillac, Mohsin Ali, A. Irvine, J. Bonafé, J. Wilkinson, A. Taïeb, Y. Barrandon and 3 more. Nature Genetics, 2000

849 citations recorded by the source corpus.

Subfields: Cell Biology, Immunology and Allergy

View Paper: https://www.semanticscholar.org/paper/801a3ef802ae25fa06a9c25963d61ea908f63613

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

1. A. Irvine
2. W. McLean
3. A. Sandilands
4. C. Sutherland
5. K. Madison

Citations in the corpus

• Barrier function of the skin: "la raison d'être" of the epidermis. (2003, background): “Netherton syndrome and Papillon^Lefevre syndrome are caused by defects in proteolysis: mutations in SPINK5, a serine protease inhibitor (Chavanas et al, 2000), and cathepsin C (Hart et al, 1999), respectively.”
• Filaggrin in the frontline: role in skin barrier function and disease (2009, background): “in Netherton syndrome, a severe autosomal recessive skin disorder (Chavanas et al., 2000).”