Literature DB >> 26288349

Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome.

N A Schlipf1, A Vahlquist2, N Teigen3, M Virtanen2, A Dragomir4, S Fismen5, M Barenboim1,6,7, T Manke6, B Rösler1, A Zimmer1, J Fischer1.   

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Year:  2015        PMID： 26288349     DOI： 10.1111/bjd.14079

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  8 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

Review 3.  Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.

Authors:  Anders Vahlquist; Judith Fischer; Hans Törmä
Journal:  Am J Clin Dermatol       Date:  2018-02       Impact factor: 7.403

4.  A DSG1 Frameshift Variant in a Rottweiler Dog with Footpad Hyperkeratosis.

Authors:  Katherine A Backel; Sarah Kiener; Vidhya Jagannathan; Margret L Casal; Tosso Leeb; Elizabeth A Mauldin
Journal:  Genes (Basel)       Date:  2020-04-24       Impact factor: 4.096

5.  Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.

Authors:  Francesc Rudilla; Clara Franco-Jarava; Mónica Martínez-Gallo; Marina Garcia-Prat; Andrea Martín-Nalda; Jacques Rivière; Aina Aguiló-Cucurull; Laura Mongay; Francisco Vidal; Xavier Solanich; Iñaki Irastorza; Juan Luis Santos-Pérez; Jesús Tercedor Sánchez; Ivon Cuscó; Clara Serra; Noelia Baz-Redón; Mónica Fernández-Cancio; Carmen Carreras; José Manuel Vagace; Vicenç Garcia-Patos; Ricardo Pujol-Borrell; Pere Soler-Palacín; Roger Colobran
Journal:  Front Immunol       Date:  2019-10-01       Impact factor: 7.561

6.  Translational implications of Th17-skewed inflammation due to genetic deficiency of a cadherin stress sensor.

Authors:  Lisa M Godsel; Quinn R Roth-Carter; Jennifer L Koetsier; Lam C Tsoi; Amber L Huffine; Joshua A Broussard; Gillian N Fitz; Sarah M Lloyd; Junghun Kweon; Hope E Burks; Marihan Hegazy; Saki Amagai; Paul W Harms; Xianying Xing; Joseph Kirma; Jodi L Johnson; Gloria Urciuoli; Lynn T Doglio; William R Swindell; Rajeshwar Awatramani; Eli Sprecher; Xiaomin Bao; Eran Cohen-Barak; Caterina Missero; Johann E Gudjonsson; Kathleen J Green
Journal:  J Clin Invest       Date:  2022-02-01       Impact factor: 14.808

Review 7.  Ichthyosis: A Road Model for Skin Research.

Authors:  Anders Vahlquist; Hans Törmä
Journal:  Acta Derm Venereol       Date:  2020-03-25       Impact factor: 3.875

Review 8.  Genetics of Inherited Ichthyoses and Related Diseases.

Authors:  Judith Fischer; Emmanuelle Bourrat
Journal:  Acta Derm Venereol       Date:  2020-03-25       Impact factor: 3.875
  8 in total

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