Literature DB >> 26493105

Striate palmoplantar keratoderma: Report of a novel DSG1 mutation and atypical clinical manifestations.

Toshifumi Nomura1, Osamu Mizuno2, Toshinari Miyauchi2, Shotaro Suzuki2, Satoru Shinkuma2, Hiroo Hata2, Yasuyuki Fujita2, Masashi Akiyama3, Hiroshi Shimizu2.   

Abstract

Entities:  

Keywords:  Desmoglein 1; Striate palmoplantar keratoderma

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Year:  2015        PMID： 26493105     DOI： 10.1016/j.jdermsci.2015.10.004

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


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  2 in total

1.  Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening.

Authors:  M-L Lovgren; M A McAleer; A D Irvine; N J Wilson; S Tavadia; M E Schwartz; C Cole; A Sandilands; F J D Smith; M Zamiri
Journal:  Br J Dermatol       Date:  2017-04-02       Impact factor: 9.302

2.  Incorporation of desmocollin-2 into the plasma membrane requires N-glycosylation at multiple sites.

Authors:  Andreas Brodehl; Caroline Stanasiuk; Dario Anselmetti; Jan Gummert; Hendrik Milting
Journal:  FEBS Open Bio       Date:  2019-04-03       Impact factor: 2.693
  2 in total

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