Literature DB >> 16297213

A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis.

Andrew G Messenger, Hisham Bazzi, Richard Parslew, Lawrence Shapiro, Angela M Christiano.   

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Year:  2005        PMID： 16297213     DOI： 10.1111/j.0022-202X.2005.23903.x

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


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  9 in total

1.  Membrane-impermeable cross-linking provides evidence for homophilic, isoform-specific binding of desmosomal cadherins in epithelial cells.

Authors:  Zhuxiang Nie; Anita Merritt; Mansour Rouhi-Parkouhi; Lydia Tabernero; David Garrod
Journal:  J Biol Chem       Date:  2010-11-22       Impact factor: 5.157

Review 2.  Diseases of epidermal keratins and their linker proteins.

Authors:  Jouni Uitto; Gabriele Richard; John A McGrath
Journal:  Exp Cell Res       Date:  2007-04-24       Impact factor: 3.905

3.  Structural basis of adhesive binding by desmocollins and desmogleins.

Authors:  Oliver J Harrison; Julia Brasch; Gorka Lasso; Phinikoula S Katsamba; Goran Ahlsen; Barry Honig; Lawrence Shapiro
Journal:  Proc Natl Acad Sci U S A       Date:  2016-06-13       Impact factor: 11.205

4.  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

5.  Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice.

Authors:  Ming-Cai Zhang; Hiroshi Furukawa; Kazuhiro Tokunaka; Kan Saiga; Fumiko Date; Yuji Owada; Masato Nose; Masao Ono
Journal:  Immunogenetics       Date:  2008-08-02       Impact factor: 2.846

6.  Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation.

Authors:  Hisham Bazzi; Shadmehr Demehri; Christopher S Potter; Alison G Barber; Alexander Awgulewitsch; Raphael Kopan; Angela M Christiano
Journal:  Differentiation       Date:  2009-08-15       Impact factor: 3.880

7.  Desmoglein-4 Deficiency Exacerbates Psoriasiform Dermatitis in Rats While Psoriasis Patients Displayed a Decreased Gene Expression of DSG4.

Authors:  Tamara Moreno-Sosa; María Belén Sánchez; Elisa Olivia Pietrobon; Juan Manuel Fernandez-Muñoz; Felipe Carlos Martín Zoppino; Flavia Judith Neira; María José Germanó; Diego Esteban Cargnelutti; Alicia Carolina Innocenti; Graciela Alma Jahn; Susana Ruth Valdez; Juan Pablo Mackern-Oberti
Journal:  Front Immunol       Date:  2021-04-29       Impact factor: 7.561

8.  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

9.  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
  9 in total

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