Literature DB >> 15140249

The epidermal lamellar body: a fascinating secretory organelle.

Manigé Fartasch.   

Abstract

Mesh:

Year:  2004        PMID: 15140249     DOI: 10.1111/j.0022-202X.2004.22541.x

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


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  5 in total

1.  A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.

Authors:  Eli Sprecher; Akemi Ishida-Yamamoto; Mordechai Mizrahi-Koren; Debora Rapaport; Dorit Goldsher; Margarita Indelman; Orit Topaz; Ilana Chefetz; Hanni Keren; Timothy J O'brien; Dani Bercovich; Stavit Shalev; Dan Geiger; Reuven Bergman; Mia Horowitz; Hanna Mandel
Journal:  Am J Hum Genet       Date:  2005-06-20       Impact factor: 11.025

2.  An absence of nuclear lamins in keratinocytes leads to ichthyosis, defective epidermal barrier function, and intrusion of nuclear membranes and endoplasmic reticulum into the nuclear chromatin.

Authors:  Hea-Jin Jung; Angelica Tatar; Yiping Tu; Chika Nobumori; Shao H Yang; Chris N Goulbourne; Harald Herrmann; Loren G Fong; Stephen G Young
Journal:  Mol Cell Biol       Date:  2014-10-13       Impact factor: 4.272

3.  Skin barrier lipid enzyme activity in Netherton patients is associated with protease activity and ceramide abnormalities.

Authors:  Jeroen van Smeden; Hanin Al-Khakany; Yichen Wang; Dani Visscher; Nicole Stephens; Samira Absalah; Herman S Overkleeft; Johannes M F G Aerts; Alain Hovnanian; Joke A Bouwstra
Journal:  J Lipid Res       Date:  2020-04-07       Impact factor: 5.922

4.  TMEM45A Is Dispensable for Epidermal Morphogenesis, Keratinization and Barrier Formation.

Authors:  Aurélie Hayez; Edith Roegiers; Jérémy Malaisse; Benoit Balau; Christiane Sterpin; Younes Achouri; Catherine Lambert De Rouvroit; Yves Poumay; Carine Michiels; Olivier De Backer
Journal:  PLoS One       Date:  2016-01-19       Impact factor: 3.240

5.  A genetic model of CEDNIK syndrome in zebrafish highlights the role of the SNARE protein Snap29 in neuromotor and epidermal development.

Authors:  Valeria Mastrodonato; Galina Beznoussenko; Alexandre Mironov; Laura Ferrari; Gianluca Deflorian; Thomas Vaccari
Journal:  Sci Rep       Date:  2019-02-04       Impact factor: 4.379

  5 in total

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