Literature DB >> 24641442

Novel mutation in the CLDN1 gene in a Turkish family with neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome.

P Kirchmeier1, E Sayar, A Hotz, I Hausser, A Islek, A Yilmaz, R Artan, J Fischer.   

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Year:  2014        PMID: 24641442     DOI: 10.1111/bjd.12724

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


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  12 in total

Review 1.  Scaffolding proteins in the development and maintenance of the epidermal permeability barrier.

Authors:  Melissa Crawford; Lina Dagnino
Journal:  Tissue Barriers       Date:  2017-06-30

2.  Time- and dose-dependent claudin contribution to biological functions: Lessons from claudin-1 in skin.

Authors:  Reitaro Tokumasu; Atsushi Tamura; Sachiko Tsukita
Journal:  Tissue Barriers       Date:  2017-06-19

Review 3.  Tight junctions in skin inflammation.

Authors:  Katja Bäsler; Johanna M Brandner
Journal:  Pflugers Arch       Date:  2016-11-16       Impact factor: 3.657

4.  Gene-Targeted Next-Generation Sequencing Identifies a Novel CLDN1 Mutation in a Consanguineous Family With NISCH Syndrome.

Authors:  Leila Youssefian; Hassan Vahidnezhad; Amir Hossein Saeidian; Soheila Sotoudeh; Sirous Zeinali; Jouni Uitto
Journal:  Am J Gastroenterol       Date:  2017-02       Impact factor: 10.864

5.  Dose-dependent role of claudin-1 in vivo in orchestrating features of atopic dermatitis.

Authors:  Reitaro Tokumasu; Kosuke Yamaga; Yuji Yamazaki; Hiroyuki Murota; Koya Suzuki; Atsushi Tamura; Kana Bando; Yasuhide Furuta; Ichiro Katayama; Sachiko Tsukita
Journal:  Proc Natl Acad Sci U S A       Date:  2016-06-24       Impact factor: 11.205

6.  Novel CLDN1 Deletion Associated with Ichthyosis, Sclerosing Cholangitis and Acquired Alopecia.

Authors:  Maleha S Alsafri; Fabienne Charbit-Henrion; Florence Lacaille; Emmanuelle Bourrat; Julie Steffann; Smail Hadj-Rabia
Journal:  Acta Derm Venereol       Date:  2020-06-11       Impact factor: 3.875

7.  Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family.

Authors:  Kaihui Zhang; Yan Huang; Rui Dong; Yali Yang; Ying Wang; Haiyan Zhang; Yufeng Zhang; Zhongtao Gai; Yi Liu
Journal:  Mol Cytogenet       Date:  2018-02-20       Impact factor: 2.009

Review 8.  Tight Junction Proteins and the Biology of Hepatobiliary Disease.

Authors:  Natascha Roehlen; Armando Andres Roca Suarez; Houssein El Saghire; Antonio Saviano; Catherine Schuster; Joachim Lupberger; Thomas F Baumert
Journal:  Int J Mol Sci       Date:  2020-01-28       Impact factor: 5.923

Review 9.  Mouse Models of Human Claudin-Associated Disorders: Benefits and Limitations.

Authors:  Murat Seker; Carmen Fernandez-Rodriguez; Luis Alfonso Martinez-Cruz; Dominik Müller
Journal:  Int J Mol Sci       Date:  2019-11-05       Impact factor: 5.923

Review 10.  Genetics of Inherited Ichthyoses and Related Diseases.

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

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