Literature DB >> 23474827

A novel ATP2C1 early truncation mutation suggests haploinsufficiency as a pathogenic mechanism in a patient with Hailey-Hailey disease.

Akitaka Shibata1, Kazumitsu Sugiura, Utako Kimura, Kenji Takamori, Masashi Akiyama.   

Abstract

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Year:  2013        PMID： 23474827     DOI： 10.2340/00015555-1551

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   4.437


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  3 in total

Review 1.  ATP2C1 gene mutations in Hailey-Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking.

Authors:  M Micaroni; G Giacchetti; R Plebani; G G Xiao; L Federici
Journal:  Cell Death Dis       Date:  2016-06-09       Impact factor: 8.469

Review 2.  Non-Desmoglein Antibodies in Patients With Pemphigus Vulgaris.

Authors:  Kyle T Amber; Manuel Valdebran; Sergei A Grando
Journal:  Front Immunol       Date:  2018-06-04       Impact factor: 7.561

3.  Characterization of Hailey-Hailey Disease-mutants in presence and absence of wild type SPCA1 using Saccharomyces cerevisiae as model organism.

Authors:  Daniel Muncanovic; Mette Heberg Justesen; Sarah Spruce Preisler; Per Amstrup Pedersen
Journal:  Sci Rep       Date:  2019-08-27       Impact factor: 4.379
  3 in total

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