Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis

by Li, Qiaoli, Frank, Michael, Akiyama, Masashi, Shimizu, Hiroshi, Ho, Shiu-Ying, Thisse, Christine, Thisse, Bernard, Sprecher, Eli, Uitto, Jouni
Published 2011

Analysis of CARD14 Polymorphisms in Pityriasis Rubra Pilaris: Activation of NF-κB

by Li, Qiaoli, Chung, Hye Jin, Ross, Nicholas, Keller, Matthew, Andrews, Jonathan, Kingman, Joshua, Sarig, Ofer, Fuchs-Telem, Dana, Sprecher, Eli, Uitto, Jouni
Published 2015

Clinical considerations and key issues in the management of patients with Erdheim-Chester Disease: a seven case series

by Mazor, Roei D, Manevich-Mazor, Mirra, Kesler, Anat, Aizenstein, Orna, Eshed, Iris, Jaffe, Ronald, Pessach, Yakov, Goldberg, Ilan, Sprecher, Eli, Yaish, Iris, Gural, Alexander, Ganzel, Chezi, Shoenfeld, Yehuda
Published 2014

Report of the tenth annual International Pachyonychia Congenita Consortium meeting

by van Steensel, Maurice A.M., Coulombe, Pierre A., Kaspar, Roger L., Milstone, Leonard M., McLean, W.H. Irwin, Roop, Dennis R., Smith, Frances J.D., Sprecher, Eli, Schwartz, Mary E.
Published 2014

Identification of a Functional Risk Variant for Pemphigus Vulgaris in the ST18 Gene

by Vodo, Dan, Sarig, Ofer, Geller, Shamir, Ben-Asher, Edna, Olender, Tsviya, Bochner, Ron, Goldberg, Ilan, Nosgorodsky, Judith, Alkelai, Anna, Tatarskyy, Pavel, Peled, Alon, Baum, Sharon, Barzilai, Aviv, Ibrahim, Saleh M., Zillikens, Detlef, Lancet, Doron, Sprecher, Eli
Published 2016

Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis

by Peled, Alon, Sarig, Ofer, Samuelov, Liat, Bertolini, Marta, Ziv, Limor, Weissglas-Volkov, Daphna, Eskin-Schwartz, Marina, Adase, Christopher A., Malchin, Natalia, Bochner, Ron, Fainberg, Gilad, Goldberg, Ilan, Sugawara, Koji, Baniel, Avital, Tsuruta, Daisuke, Luxenburg, Chen, Adir, Noam, Duverger, Olivier, Morasso, Maria, Shalev, Stavit, Gallo, Richard L., Shomron, Noam, Paus, Ralf, Sprecher, Eli
Published 2016

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

by McAleer, Maeve A., Pohler, Elizabeth, Smith, Frances J.D., Wilson, Neil J., Cole, Christian, MacGowan, Stuart, Koetsier, Jennifer L., Godsel, Lisa M., Harmon, Robert M., Gruber, Robert, Crumrine, Debra, Elias, Peter M., McDermott, Michael, Butler, Karina, Broderick, Annemarie, Sarig, Ofer, Sprecher, Eli, Green, Kathleen J., McLean, W.H. Irwin, Irvine, Alan D.
Published 2015