Literature DB >> 29229434

Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility.

John Y W Lee1, Assem Farag2, Amira Tawdy2, Lu Liu3, Magdalene Michael4, Ellie Rashidghamat1, Sophia Aristodemou2, Chao-Kai Hsu5, Michael A Simpson6, Maddy Parsons4, John A McGrath7.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2017        PMID： 29229434     DOI： 10.1016/j.jdermsci.2017.11.012

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


× No keyword cloud information.
  4 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.  A novel homozygous frameshift mutation in DSG1 gene in an Indian consanguineous family with severe dermatitis, multiple allergies and metabolic wasting syndrome.

Authors:  Sahana M Srinivas; Puneetha Basavanaik; Aruna Gowdra
Journal:  Indian J Dermatol Venereol Leprol       Date:  2021 May-Jun       Impact factor: 2.545

3.  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

4.  α2β1 integrins spatially restrict Cdc42 activity to stabilise adherens junctions.

Authors:  Jake D Howden; Magdalene Michael; Willow Hight-Warburton; Maddy Parsons
Journal:  BMC Biol       Date:  2021-06-23       Impact factor: 7.431
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.