Literature DB >> 22583733

Galli-Galli disease is an acantholytic variant of Dowling-Degos disease: additional genetic evidence in a German family.

Astrid Schmieder, Sandra M Pasternack, Dieter Krahl, Regina C Betz, Martin Leverkus.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2012        PMID： 22583733     DOI： 10.1016/j.jaad.2011.07.038

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN： 0190-9622            Impact factor:   11.527


× No keyword cloud information.
  5 in total

1.  Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.

Authors:  F Buket Basmanav; Ana-Maria Oprisoreanu; Sandra M Pasternack; Holger Thiele; Günter Fritz; Jörg Wenzel; Leopold Größer; Maria Wehner; Sabrina Wolf; Christina Fagerberg; Anette Bygum; Janine Altmüller; Arno Rütten; Laurent Parmentier; Laila El Shabrawi-Caelen; Christian Hafner; Peter Nürnberg; Roland Kruse; Susanne Schoch; Sandra Hanneken; Regina C Betz
Journal:  Am J Hum Genet       Date:  2014-01-02       Impact factor: 11.025

Review 2.  Dew drops on spider web appearance: a newly named pattern of IgG4 deposition in pemphigus with direct immunofluorescence.

Authors:  Marian Dmochowski; Justyna Gornowicz-Porowska; Monika Bowszyc-Dmochowska
Journal:  Postepy Dermatol Alergol       Date:  2017-08-01       Impact factor: 1.837

3.  Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease.

Authors:  N J Wilson; C Cole; K Kroboth; W N Hunter; J A Mann; W H I McLean; K Kernland Lang; H Beltraminelli; R A Sabroe; N Tiffin; G J Sobey; L Borradori; E Simpson; F J D Smith
Journal:  Br J Dermatol       Date:  2016-09-24       Impact factor: 9.302

4.  Exacerbation of Galli-Galli Disease Following Dialysis Treatment: A Case Report and Review of Aggravating Factors.

Authors:  Tejas P Joshi; Sally Shaver; Jaime Tschen
Journal:  Cureus       Date:  2021-06-02

5.  Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease.

Authors:  A K Reisenauer; S V Wordingham; J York; E W J Kokkonen; W H I Mclean; N J Wilson; F J D Smith
Journal:  Br J Dermatol       Date:  2014-06       Impact factor: 9.302
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.