Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix

Autor: Sprecher, Eli, Miller, Christopher J., Richard, Gabriele ^*, Ishida-Yamamoto, Akemi ^*, Becker, Oren M. ^†, Marekov, Lyuben ^‡, Steinert, Peter M. ^‡, Neldner, Kenneth ^§

Publikováno v: In Journal of Investigative Dermatology April 2001 116(4):511-519

List of Contributors

Autor: Abdullah, Anthony, Admani, Shehla, Ahmed, Imtiaz, Hammadi, Anwar Al, Allen, Caroline P., Allen, Robert A., Ameen, Mahreen, Amini, Sadegh, Anderson, Bryan E., Anhalt, Grant J., Anyanwu, Cynthia O., Aouthmany, Mouhammad, Aslam, Arif M., Bain, E. Eugene, III, Baker, Donald J., Bakkour, Waseem, Banach, David, Baran, Robert L., Barkham, Melissa C., Basu, Tanya N., Bello, Ysabel M., Benton, Emma, Bergfeld, Wilma F., Berkowitz, Eric, Berman, Brian, Bernhard, Jeffrey D., Berth-Jones, John, Bewley, Anthony, Bhate, Chinmoy, Bhatia, Bhavnit K., Blume, Jonathan E., Brauner, Gary J., Brodell, Robert T., Brown, Marc D., Burd, Robert M., Burdick, Anne E., Burge, Susan M., Callen, Jeffrey P., Camacho, Ivan D., Campbell, Caren, Caplivski, Daniel, Cappell, Mitchell S., Carucci, John A., Casey, Genevieve A., Castelo-Soccio, Leslie, Chadwick, Preston W., Chalmers, Robert J.G., Chan, Loi-Yuen, Chan, Lawrence S., Chayavichitsilp, Pamela, Chen, Jennifer K., Child, Fiona J., Chu, Anthony C., Clayton, Timothy H., Cohen, Steven R., Cooper, Elizabeth A., Cooper, Susan M., Coulson, Ian, Cowper, Shawn E., Craven, Nicholas M., Creamer, Daniel, Cruz, Ponciano D., Jr, Cunningham, Carol, Cusack, Carrie Ann R., Davis, Mark D.P., Davis, Rosie, Dawe, Robert S., D'Cruz, David P., de Berker, David, DeHoratius, Danielle M., Desai, Nisha C., DiGiovanna, John J., Doctoroff, Alexander, Eichenfield, Lawrence F., Eisen, Drore, Eke, Ure, Elston, Dirk M., Emanuel, Patrick O.M., Emer, Jason J., Eminger, Lindsay A., Ensanyat, Shaheen H., Falabella, Anna F., Fanelli, Matthew, Farquharson, Nina R., Farsani, Terry T., Fett, Nicole, Fiandeiro, Pamela, Finlay, Andrew Y., Firoz, Bahar F., Firoz, Elnaz F., Fitzpatrick, James E., Flischel, Amy E., Freedman, Derek, Friedlander, Philip, Friedman, Adam, Fuchs, Brian S., Fukaya, Eri, Fuller, L. Claire, Gach, Joanna E., Galan, Anjela, Gamboni, Sarah E., Gardner, Loma S., Garg, Amit, Garza, Reed M., Gelfand, Joel M., Gelmetti, Carlo, Goldberg, Leonard H., Goodfield, Mark J.D., Gordon, Marsha L., Gordon, Rachel A., Graham-Brown, Robin A.C., Grattan, Clive E.H., Greaves, Malcolm W., Green, Justin J., Grelck, Kurt W., Griffiths, Christopher E.M., Gropper, Charles A., Gropper, Jaime R., Guidry, Jacqueline A., Gupta, Aditya K., Hadi, Ahmed S., Hadi, Suhail M., Hairston, Bethany R., Halpern, Analisa Vincent, Halverstam, Caroline, Handfield-Jones, Susan E., Harrison, Shannon, Heagerty, Adrian H.M., Hebert, Adelaide A., Helms, Stephen E., Hexsel, Camile L., Hexsel, Doris M., Heymann, Warren R., Higgins, Elisabeth M., High, Whitney A., Hönigsmann, Herbert, Horenstein, Marcelo G., Hui, Andrea, Humphreys, Frances, Huo, Ran, Ibbotson, Sally H., Ibrahim, Sherrif F., Ilchyshyn, Andrew, Jablonska, Stefania, Jacobe, Heidi T., James, William D., Javed, Aysha, Jemec, Gregor B.E., Johnston, Graham A., Jones, Stephen K., Junkins-Hopkins, Jacqueline M., Jurecka, Wolfgang, Kaffenberger, Jessica A., Kanelleas, Antonios, Kasparis, Christos, Katugampola, Ruwani P., Katz, Bruce E., Keefe, Martin, Khan, Murtaza, Khorasani, Hooman, Kia, Kevin F., Kihiczak, George G., Kim, Ellen J., Kirby, Brian, Kirby, Joslyn S., Klein, Rachel S., Kleydman, Kate, Kluk, Justine, Knowles, Sandra R., Koch, Dimitra, Koo, John Y.M., Kopp, Sandra A., Korman, Neil J., Kraemer, Kenneth H., Krafchik, Bernice R., Krakowski, Andrew C., Krishnamurthy, Karthik, Kvernebo, Knut, Lacuesta, Maricarr Pamela M., Landero, James Lee, Lam, Charlene, Langtry, James A.A., Larian, Amir A., Lawlor, Frances, Lawrence, Clifford M., Lawrence, Naomi, Lebwohl, Mark G., Lebwohl, Oscar, Lee, Robert E., Lehman, Julia S., Lessin, Stuart R., Levitt, Jacob O., Lewis, Fiona M., Loosemore, Michael P., Luger, Thomas A., Lushniak, Boris D., Lyon, Calum C., Macedo, Chrystalla, Mailhot, Jeffrey, Majewski, Slawomir, Mallett, Richard B., Manders, Steven M., Mann, Ranon, Mansouri, Yasaman, Margolis, David J., Markoff, Sarah, Markowitz, Orit, Marmur, Ellen S., Marraiki, Najat A.Y., Marsden, Jeremy R., Martin-Clavijo, Agustin, Maruthappu, Thiviyani, Mays, Rana Majd, McCall, Calvin O., McDonagh, Andrew J.G., McElligott, Sean C., Merika, Eirini E., Micali, Giuseppe, Millard, Leslie G., Millett, Christian R., Milligan, Alex, Mimouni, Daniel, Mirowski, Ginat W., Molin, Sonja, Mookerjee, Anuradha Lele, Morales-Burgos, Adisbeth, Morison, Warwick L., Mørk, Cato, Morton, Laurel M., Motley, Richard J., Mowbray, Megan, Muldoon, Eavan G., Muncaster, Anna E., Murakawa, George J., Murase, Jenny E., Murdoch, Michele E., Nalluri, Rajani, Needham, Glen R., Neldner, Kenneth H., Newell, Glenn C., Newsham, John, Newton-Bishop, Julia, Nixon, Rosemary L., Nousari, Carlos H., Ogden, Stephanie, Owen, Caroline M., Owen, Cindy E., Pacha, Omar, Palmer, Roy A., Parish, Jennifer L., Parish, Lawrence Charles, Patel, Gopi, Peck, Gary L., Pereira, Frederick A., Perkins, William, Perlis, Clifford S., Petersen, Erik T., Phelps, Robert G., Phillips, Tania J., Piraccini, Bianca Maria, Poh-Fitzpatrick, Maureen B., Porcu, Pierluigi, Powell, James B., Powers, Jennifer Gloeckner, Prok, Lori D., Ratnavel, Ravi, Recica, Hilmi F., Regan, Thomas D., Regula, Christie G., Reutemann, Patricia, Revuz, Jean, Reynolds, Rachel V., Richard, Elisabeth G., Richard, Gabriele, Rigel, Darrell S., Robles, Wanda Sonia, Romano, Michael, Rook, Alain H., Rosen, Ted, Payne, Christopher Rowland, Rustin, Malcolm H.A., Ruzicka, Thomas, Salvaggio, Heather L., Samimi, Sara, Sanchez, Miguel, Schachner, Lawrence A., Schadt, Courtney R., Scheinfeld, Noah, Schlosser, Bethanee J., Schnur, Rhonda E., Schofield, Olivia M.V., Schwartz, Robert A., Scott, Michelle, Selkin, Bryan A., Seymour, Jamie, Shea, Christopher R., Shear, Neil H., Shim, Tang Ngee, Shimizu, Hiroshi, Sidhu, Harleen K., Silverman, Robert A., Simpson, Fiona C., Singer, Elisha, Sladden, Christopher, Sladden, Michael, Smith, Janellen, Somani, Najwa, Sommer, Lacy L., Soon, Christine, Soter, Nicholas A., Spencer, James M., Staughton, Richard C.D., Stechschulte, Sarah A., Sterling, Jane C., Sunderkötter, Cord, Szczecinska, Weronika, Taibjee, Saleem M., Tallon, Ben, Tamura, Deborah, Tan, Eunice, Tang, William Y-M, Telfer, Nicholas R., Thiers, Bruce H., Thornton, Cody R., Tobin, Anne-Marie, Tomson, Nevianna, Torgerson, Rochelle R., Tosti, Antonella, Tsatsou, Fragkiski, Tsuji-Abe, Yukiko, Tucker, William F.G., Turker, Dana, Tyring, Stephen K., Unger, Robin H., Unger, Walter P., van de Kerkhof, Peter C.M., Van Voorhees, Abby S., Venning, Vanessa, Viera, Martha, Vittorio, Carmela C., Vivehanantha, Sivanie, Vleugels, Ruth Ann, Waldorf, Heidi A., Wallengren, Joanna, Walls, Brooke M., Wanat, Karolyn A., Weichert, Gabriele, Weidmann, Anja K., Weinberg, Jeffrey M., Wentworth, Ashley B., Werth, Victoria P., Wesley, Carlos K., White, Lucile E., Whittaker, Sean J., Wiener, Adam H., Wilkin, Jonathan K., Wilkin, Nathaniel K., Williams, Jason D.L., Wiss, Karen, Witkowski, Joseph A., Wong, Henry K., Wong Millsop, Jillian W., Wright, Andrew L., Wriston, Cooper C., Wulkan, Adam, Zaenglein, Andrea L., Zaghloul, Sameh S., Zaki, Irshad, Zeichner, Joshua A., Zeitouni, Nathalie, Zone, John J., Zouboulis, Christos C.

Publikováno v: In Treatment of Skin Disease Edition: Fourth Edition. 2014:xiii-xxiv

Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.

Autor: Miksch, Sara, Lumsden, Amanda, Guenther, Ulf P., Foernzler, Dorothee, Christen-Zäch, Stéphanie, Daugherty, Carol, Ramesar, Raj Kumar S., Lebwohl, Mark, Hohl, Daniel, Neldner, Kenneth H., Lindpaintner, Klaus, Richards, Robert I., Struk, Berthold

Publikováno v: Human Mutation; Sep2005, Vol. 26 Issue 3, p235-248, 14p

Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum.

Autor: Struk, Berthold, Li Cai, Zách, Stéphanie, Wan Ji, Joon Chung, Lumsden, Amanda, Stumm, Markus, Huber, Marcel, Schaen, Lori, Kim, Chung-Ah, Goldsmith, Lowell A., Viljoen, Denis, Figuera, Luis E., Fuchs, Wayne, Munier, Francis, Ramesar, Raj, Hohl, Daniel, Richards, Robert, Neldner, Kenneth H., Lindpaintner, Klaus

Publikováno v: Journal of Molecular Medicine; Jul2000, Vol. 78 Issue 5, p282-286, 5p

THERAPEUTIC OPTIONS IN DERMATOMYOSITIS/POLYMYOSITIS.

Autor: Boyd, Alan S., Neldner, Kenneth H.

Publikováno v: International Journal of Dermatology; Apr1994, Vol. 33 Issue 4, p240-250, 11p