Literature DB >> 27632246

Compound heterozygosity for dominant and recessive DSG1 mutations in a patient with atypical SAM syndrome (severe dermatitis, multiple allergies, metabolic wasting).

S Dănescu1, J Leppert2, R Cosgarea1, S Zurac3, S Pop1, A Baican1, C Has2.   

Abstract

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Year:  2016        PMID： 27632246     DOI： 10.1111/jdv.13967

Source DB:  PubMed          Journal:  J Eur Acad Dermatol Venereol        ISSN： 0926-9959            Impact factor:   6.166


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  3 in total

1.  The Role of Desmoglein 1 in Gap Junction Turnover Revealed through the Study of SAM Syndrome.

Authors:  Eran Cohen-Barak; Lisa M Godsel; Jennifer L Koetsier; Marihan Hegazy; Daniella Kushnir-Grinbaum; Helwe Hammad; Nada Danial-Farran; Robert Harmon; Morad Khayat; Ron Bochner; Alon Peled; Mati Rozenblat; Judit Krausz; Ofer Sarig; Jodi L Johnson; Michael Ziv; Stavit A Shalev; Eli Sprecher; Kathleen J Green
Journal:  J Invest Dermatol       Date:  2019-08-26       Impact factor: 8.551

2.  Epithelial barrier dysfunction in desmoglein-1 deficiency.

Authors:  Laura Polivka; Smail Hadj-Rabia; Elodie Bal; Stéphanie Leclerc-Mercier; Marine Madrange; Yamina Hamel; Damien Bonnet; Stéphanie Mallet; Hubert Lepidi; Caroline Ovaert; Patrick Barbet; Christophe Dupont; Bénédicte Neven; Arnold Munnich; Lisa M Godsel; Florence Campeotto; Robert Weil; Emmanuel Laplantine; Sylvie Marchetto; Jean-Paul Borg; William I Weis; Jean-Laurent Casanova; Anne Puel; Kathleen J Green; Christine Bodemer; Asma Smahi
Journal:  J Allergy Clin Immunol       Date:  2018-04-27       Impact factor: 10.793

3.  The desmosome is a mesoscale lipid raft-like membrane domain.

Authors:  Joshua D Lewis; Amber L Caldara; Stephanie E Zimmer; Sara N Stahley; Anna Seybold; Nicole L Strong; Achilleas S Frangakis; Ilya Levental; James K Wahl; Alexa L Mattheyses; Takashi Sasaki; Kazuhiko Nakabayashi; Kenichiro Hata; Yoichi Matsubara; Akemi Ishida-Yamamoto; Masayuki Amagai; Akiharu Kubo; Andrew P Kowalczyk
Journal:  Mol Biol Cell       Date:  2019-04-03       Impact factor: 4.138
  3 in total

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