Literature DB >> 15304105

A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis.

Celia Moss, Amalia Martinez-Mir, HaMut Lam, Marija Tadin-Strapps, Ana Kljuic, Angela M Christiano.   

Abstract

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Year:  2004        PMID： 15304105     DOI： 10.1111/j.0022-202X.2004.23311.x

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  7 in total

1.  Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.

Authors:  Petros Syrris; Deirdre Ward; Alison Evans; Angeliki Asimaki; Estelle Gandjbakhch; Srijita Sen-Chowdhry; William J McKenna
Journal:  Am J Hum Genet       Date:  2006-09-27       Impact factor: 11.025

2.  A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis.

Authors:  Ghazanfar Ali; Muhammad Salman Chishti; Syed Irfan Raza; Peter John; Wasim Ahmad
Journal:  Hum Genet       Date:  2007-02-27       Impact factor: 4.132

3.  An autosomal recessive mutation of DSG4 causes monilethrix through the ER stress response.

Authors:  Madoka Kato; Akira Shimizu; Yoko Yokoyama; Kyoichi Kaira; Yutaka Shimomura; Akemi Ishida-Yamamoto; Kiyoko Kamei; Fuminori Tokunaga; Osamu Ishikawa
Journal:  J Invest Dermatol       Date:  2015-01-23       Impact factor: 8.551

4.  Defining the pathogenic involvement of desmoglein 4 in pemphigus and staphylococcal scalded skin syndrome.

Authors:  Takeshi Nagasaka; Koji Nishifuji; Takayuki Ota; Neil V Whittock; Masayuki Amagai
Journal:  J Clin Invest       Date:  2004-11       Impact factor: 14.808

Review 5.  Desmoglein as a target in skin disease and beyond.

Authors:  Masayuki Amagai; John R Stanley
Journal:  J Invest Dermatol       Date:  2011-12-22       Impact factor: 8.551

6.  Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families.

Authors:  Cheng Zhou; Pei Wang; Dingquan Yang; Wenjun Liao; Qing Guo; Jiacheng Li; Guangdong Wen; Shuying Zheng; Xue Zhang; Rongrong Wang; Jianzhong Zhang
Journal:  Mol Genet Genomic Med       Date:  2022-02-11       Impact factor: 2.183

7.  Independent DSG4 frameshift variants in cats with hair shaft dystrophy.

Authors:  Sarah Kiener; Ana Rostaher; Silvia Rüfenacht; Vidhya Jagannathan; John P Sundberg; Monika Welle; Tosso Leeb
Journal:  Mol Genet Genomics       Date:  2021-12-08       Impact factor: 3.291
  7 in total

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