Distinguishing ichthyoses by protein profiling.

To explore the usefulness of protein profiling for characterization of ichthyoses, we here determined the profile of human epidermal stratum corneum by shotgun proteomics. Samples were analyzed after collection on tape circles from six anatomic sites (forearm, palm, lower leg, forehead, abdomen, upp...

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Autores principales:	Robert H Rice, Katie M Bradshaw, Blythe P Durbin-Johnson, David M Rocke, Richard A Eigenheer, Brett S Phinney, Matthias Schmuth, Robert Gruber
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2013
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/d3317b456c364672904773811faba8e7
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spelling	oai:doaj.org-article:d3317b456c364672904773811faba8e72021-11-18T08:51:52ZDistinguishing ichthyoses by protein profiling.1932-620310.1371/journal.pone.0075355https://doaj.org/article/d3317b456c364672904773811faba8e72013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24130705/?tool=EBIhttps://doaj.org/toc/1932-6203To explore the usefulness of protein profiling for characterization of ichthyoses, we here determined the profile of human epidermal stratum corneum by shotgun proteomics. Samples were analyzed after collection on tape circles from six anatomic sites (forearm, palm, lower leg, forehead, abdomen, upper back), demonstrating site-specific differences in profiles. Additional samples were collected from the forearms of subjects with ichthyosis vulgaris (filaggrin (FLG) deficiency), recessive X-linked ichthyosis (steroid sulfatase (STS) deficiency) and autosomal recessive congenital ichthyosis type lamellar ichthyosis (transglutaminase 1 (TGM1) deficiency). The ichthyosis protein expression patterns were readily distinguishable from each other and from phenotypically normal epidermis. In general, the degree of departure from normal was lower from ichthyosis vulgaris than from lamellar ichthyosis, parallel to the severity of the phenotype. Analysis of samples from families with ichthyosis vulgaris and concomitant modifying gene mutations (STS deficiency, GJB2 deficiency) permitted correlation of alterations in protein profile with more complex genetic constellations.Robert H RiceKatie M BradshawBlythe P Durbin-JohnsonDavid M RockeRichard A EigenheerBrett S PhinneyMatthias SchmuthRobert GruberPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 10, p e75355 (2013)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Robert H Rice Katie M Bradshaw Blythe P Durbin-Johnson David M Rocke Richard A Eigenheer Brett S Phinney Matthias Schmuth Robert Gruber Distinguishing ichthyoses by protein profiling.
description	To explore the usefulness of protein profiling for characterization of ichthyoses, we here determined the profile of human epidermal stratum corneum by shotgun proteomics. Samples were analyzed after collection on tape circles from six anatomic sites (forearm, palm, lower leg, forehead, abdomen, upper back), demonstrating site-specific differences in profiles. Additional samples were collected from the forearms of subjects with ichthyosis vulgaris (filaggrin (FLG) deficiency), recessive X-linked ichthyosis (steroid sulfatase (STS) deficiency) and autosomal recessive congenital ichthyosis type lamellar ichthyosis (transglutaminase 1 (TGM1) deficiency). The ichthyosis protein expression patterns were readily distinguishable from each other and from phenotypically normal epidermis. In general, the degree of departure from normal was lower from ichthyosis vulgaris than from lamellar ichthyosis, parallel to the severity of the phenotype. Analysis of samples from families with ichthyosis vulgaris and concomitant modifying gene mutations (STS deficiency, GJB2 deficiency) permitted correlation of alterations in protein profile with more complex genetic constellations.
format	article
author	Robert H Rice Katie M Bradshaw Blythe P Durbin-Johnson David M Rocke Richard A Eigenheer Brett S Phinney Matthias Schmuth Robert Gruber
author_facet	Robert H Rice Katie M Bradshaw Blythe P Durbin-Johnson David M Rocke Richard A Eigenheer Brett S Phinney Matthias Schmuth Robert Gruber
author_sort	Robert H Rice
title	Distinguishing ichthyoses by protein profiling.
title_short	Distinguishing ichthyoses by protein profiling.
title_full	Distinguishing ichthyoses by protein profiling.
title_fullStr	Distinguishing ichthyoses by protein profiling.
title_full_unstemmed	Distinguishing ichthyoses by protein profiling.
title_sort	distinguishing ichthyoses by protein profiling.
publisher	Public Library of Science (PLoS)
publishDate	2013
url	https://doaj.org/article/d3317b456c364672904773811faba8e7
work_keys_str_mv	AT roberthrice distinguishingichthyosesbyproteinprofiling AT katiembradshaw distinguishingichthyosesbyproteinprofiling AT blythepdurbinjohnson distinguishingichthyosesbyproteinprofiling AT davidmrocke distinguishingichthyosesbyproteinprofiling AT richardaeigenheer distinguishingichthyosesbyproteinprofiling AT brettsphinney distinguishingichthyosesbyproteinprofiling AT matthiasschmuth distinguishingichthyosesbyproteinprofiling AT robertgruber distinguishingichthyosesbyproteinprofiling
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Distinguishing ichthyoses by protein profiling.

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