Literature DB >> 20159115

No evidence of skin blisters with human desmocollin-3 gene mutation.

Aimee S Payne.   

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Year:  2010        PMID: 20159115      PMCID: PMC2820169          DOI: 10.1016/j.ajhg.2009.09.021

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


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  3 in total

1.  A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles.

Authors:  Muhammad Ayub; Sulman Basit; Musharraf Jelani; Fazal Ur Rehman; Muhammad Iqbal; Masoom Yasinzai; Wasim Ahmad
Journal:  Am J Hum Genet       Date:  2009-09-17       Impact factor: 11.025

2.  Assessment of splice variant-specific functions of desmocollin 1 in the skin.

Authors:  Xing Cheng; Kusal Mihindukulasuriya; Zhining Den; Andrew P Kowalczyk; Cathárine C Calkins; Akira Ishiko; Atsushi Shimizu; Peter J Koch
Journal:  Mol Cell Biol       Date:  2004-01       Impact factor: 4.272

3.  Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation.

Authors:  M Chidgey; C Brakebusch; E Gustafsson; A Cruchley; C Hail; S Kirk; A Merritt; A North; C Tselepis; J Hewitt; C Byrne; R Fassler; D Garrod
Journal:  J Cell Biol       Date:  2001-11-19       Impact factor: 10.539

  3 in total
  1 in total

1.  Autoimmunity to desmocollin 3 in pemphigus vulgaris.

Authors:  Xuming Mao; Arielle R Nagler; Sara A Farber; Eun Jung Choi; Lauren H Jackson; Kristin M Leiferman; Norito Ishii; Takashi Hashimoto; Masayuki Amagai; John J Zone; Aimee S Payne
Journal:  Am J Pathol       Date:  2010-10-15       Impact factor: 4.307

  1 in total

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