The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium in...

por Krøigård, Anne Bruun, Hetland, Liv Eline, Clemmensen, Ole, Blaydon, Diana C., Hertz, Jens Michael, Bygum, Anette
Publicado 2016

iRHOM2: A Regulator of Palmoplantar Biology, Inflammation, and Viral Susceptibility

por Chao-Chu, Jennifer, Murtough, Stephen, Zaman, Najwa, Pennington, Daniel J., Blaydon, Diana C., Kelsell, David P.
Publicado 2020

p63 is a key regulator of iRHOM2 signalling in the keratinocyte stress response

por Arcidiacono, Paola, Webb, Catherine M., Brooke, Matthew A., Zhou, Huiqing, Delaney, Paul J., Ng, Keat-Eng, Blaydon, Diana C., Tinker, Andrew, Kelsell, David P., Chikh, Anissa
Publicado 2018

Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair

por Maruthappu, Thiviyani, McGinty, Lisa A., Blaydon, Diana C., Fell, Benjamin, Määttä, Arto, Duit, Rebecca, Hawkins, Tim, Braun, Kristin M., Simpson, Michael A., O’Toole, Edel A., Kelsell, David P.
Publicado 2018

Rhomboid family member 2 regulates cytoskeletal stress-associated Keratin 16

por Maruthappu, Thiviyani, Chikh, Anissa, Fell, Benjamin, Delaney, Paul J., Brooke, Matthew A., Levet, Clemence, Moncada-Pazos, Angela, Ishida-Yamamoto, Akemi, Blaydon, Diana, Waseem, Ahmad, Leigh, Irene M., Freeman, Matthew, Kelsell, David P.
Publicado 2017