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578 results

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Page 1
Epidermal stratification requires retromer-mediated desmoglein-1 recycling.
Hegazy M, Koetsier JL, Huffine AL, Broussard JA, Godsel BM, Cohen-Barak E, Sprecher E, Wolfgeher DJ, Kron SJ, Godsel LM, Green KJ. Hegazy M, et al. Among authors: sprecher e. Dev Cell. 2022 Dec 19;57(24):2683-2698.e8. doi: 10.1016/j.devcel.2022.11.010. Epub 2022 Dec 9. Dev Cell. 2022. PMID: 36495876 Free PMC article.
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.
Samuelov L, Sarig O, Harmon RM, Rapaport D, Ishida-Yamamoto A, Isakov O, Koetsier JL, Gat A, Goldberg I, Bergman R, Spiegel R, Eytan O, Geller S, Peleg S, Shomron N, Goh CSM, Wilson NJ, Smith FJD, Pohler E, Simpson MA, McLean WHI, Irvine AD, Horowitz M, McGrath JA, Green KJ, Sprecher E. Samuelov L, et al. Among authors: sprecher e. Nat Genet. 2013 Oct;45(10):1244-1248. doi: 10.1038/ng.2739. Epub 2013 Aug 25. Nat Genet. 2013. PMID: 23974871 Free PMC article.
Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin.
McAleer MA, Pohler E, Smith FJ, Wilson NJ, Cole C, MacGowan S, Koetsier JL, Godsel LM, Harmon RM, Gruber R, Crumrine D, Elias PM, McDermott M, Butler K, Broderick A, Sarig O, Sprecher E, Green KJ, McLean WH, Irvine AD. McAleer MA, et al. Among authors: sprecher e. J Allergy Clin Immunol. 2015 Nov;136(5):1268-76. doi: 10.1016/j.jaci.2015.05.002. Epub 2015 Jun 12. J Allergy Clin Immunol. 2015. PMID: 26073755 Free PMC article.
SVEP1 plays a crucial role in epidermal differentiation.
Samuelov L, Li Q, Bochner R, Najor NA, Albrecht L, Malchin N, Goldsmith T, Grafi-Cohen M, Vodo D, Fainberg G, Meilik B, Goldberg I, Warshauer E, Rogers T, Edie S, Ishida-Yamamoto A, Burzenski L, Erez N, Murray SA, Irvine AD, Shultz L, Green KJ, Uitto J, Sprecher E, Sarig O. Samuelov L, et al. Among authors: sprecher e. Exp Dermatol. 2017 May;26(5):423-430. doi: 10.1111/exd.13256. Epub 2017 Feb 20. Exp Dermatol. 2017. PMID: 27892606 Free PMC article.
Epidermolytic Ichthyosis Sine Epidermolysis.
Eskin-Schwartz M, Drozhdina M, Sarig O, Gat A, Jackman T, Isakov O, Shomron N, Samuelov L, Malchin N, Peled A, Vodo D, Hovnanian A, Ruzicka T, Koshkin S, Harmon RM, Koetsier JL, Green KJ, Paller AS, Sprecher E. Eskin-Schwartz M, et al. Among authors: sprecher e. Am J Dermatopathol. 2017 Jun;39(6):440-444. doi: 10.1097/DAD.0000000000000674. Am J Dermatopathol. 2017. PMID: 28121638 Free PMC article.
Striate palmoplantar keratoderma resulting from a missense mutation in DSG1.
Vodo D, O'Toole EA, Malchin N, Lahav A, Adir N, Sarig O, Green KJ, Smith FJD, Sprecher E. Vodo D, et al. Among authors: sprecher e. Br J Dermatol. 2018 Sep;179(3):755-757. doi: 10.1111/bjd.16320. Epub 2018 May 5. Br J Dermatol. 2018. PMID: 29315490 Free PMC article. No abstract available.
Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A.
Mohamad J, Sarig O, Godsel LM, Peled A, Malchin N, Bochner R, Vodo D, Rabinowitz T, Pavlovsky M, Taiber S, Fried M, Eskin-Schwartz M, Assi S, Shomron N, Uitto J, Koetsier JL, Bergman R, Green KJ, Sprecher E. Mohamad J, et al. Among authors: sprecher e. J Invest Dermatol. 2018 Aug;138(8):1736-1743. doi: 10.1016/j.jid.2018.04.032. Epub 2018 Jun 27. J Invest Dermatol. 2018. PMID: 29758285 Free PMC article.
The Role of Desmoglein 1 in Gap Junction Turnover Revealed through the Study of SAM Syndrome.
Cohen-Barak E, Godsel LM, Koetsier JL, Hegazy M, Kushnir-Grinbaum D, Hammad H, Danial-Farran N, Harmon R, Khayat M, Bochner R, Peled A, Rozenblat M, Krausz J, Sarig O, Johnson JL, Ziv M, Shalev SA, Sprecher E, Green KJ. Cohen-Barak E, et al. Among authors: sprecher e. J Invest Dermatol. 2020 Mar;140(3):556-567.e9. doi: 10.1016/j.jid.2019.08.433. Epub 2019 Aug 26. J Invest Dermatol. 2020. PMID: 31465738 Free PMC article.
578 results