Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

por Pohler, Elizabeth, Mamai, Ons, Hirst, Jennifer, Zamiri, Mozheh, Horn, Helen, Nomura, Toshifumi, Irvine, Alan D., Moran, Benvon E., Wilson, Neil J., Smith, Frances J. D., Goh, Christabelle S. M, Sandilands, Aileen, Cole, Christian, Barton, Geoffrey J., Evans, Alan T., Shimizu, Hiroshi, Akiyama, Masashi, Suehiro, Akihiro, Konohana, Izumi, Shboul, Mohammad, Teissier, Sebastien, Boussofara, Lobna, Denguezli, Mohamed, Saad, Ali, Gribaa, Moez, Dopping-Hepenstal, Patricia J., McGrath, John A, Brown, Sara J., Goudie, David R., Reversade, Bruno, Munro, Colin S., McLean, W. H. Irwin
Publicado 2012

Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects

por Saunders, Sean P., Goh, Christabelle S.M., Brown, Sara J., Palmer, Colin N.A., Porter, Rebecca M., Cole, Christian, Campbell, Linda E., Gierlinski, Marek, Barton, Geoffrey J., Schneider, Georg, Balmain, Allan, Prescott, Alan R., Weidinger, Stephan, Baurecht, Hansjörg, Kabesch, Michael, Gieger, Christian, Lee, Young-Ae, Tavendale, Roger, Mukhopadhyay, Somnath, Turner, Stephen W., Madhok, Vishnu B., Sullivan, Frank M., Relton, Caroline, Burn, John, Meggitt, Simon, Smith, Catherine H., Allen, Michael A., Barker, Jonathan N.W. N., Reynolds, Nick J., Cordell, Heather J., Irvine, Alan D., McLean, W.H. Irwin, Sandilands, Aileen, Fallon, Padraic G.
Publicado 2013