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Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function.

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Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function. / Gruber, Robert; Elias, Peter M; Crumrine, Debra; Lin, Tzu-Kai; Brandner, Johanna; Hachem, Jean-Pierre; Presland, Richard B; Fleckman, Philip; Janecke, Andreas R; Sandilands, Aileen; McLean, W H Irwin; Fritsch, Peter O; Mildner, Michael; Tschachler, Erwin; Schmuth, Matthias.

in: AM J PATHOL, Jahrgang 178, Nr. 5, 5, 2011, S. 2252-2263.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Gruber, R, Elias, PM, Crumrine, D, Lin, T-K, Brandner, J, Hachem, J-P, Presland, RB, Fleckman, P, Janecke, AR, Sandilands, A, McLean, WHI, Fritsch, PO, Mildner, M, Tschachler, E & Schmuth, M 2011, 'Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function.', AM J PATHOL, Jg. 178, Nr. 5, 5, S. 2252-2263. <http://www.ncbi.nlm.nih.gov/pubmed/21514438?dopt=Citation>

APA

Gruber, R., Elias, P. M., Crumrine, D., Lin, T-K., Brandner, J., Hachem, J-P., Presland, R. B., Fleckman, P., Janecke, A. R., Sandilands, A., McLean, W. H. I., Fritsch, P. O., Mildner, M., Tschachler, E., & Schmuth, M. (2011). Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function. AM J PATHOL, 178(5), 2252-2263. [5]. http://www.ncbi.nlm.nih.gov/pubmed/21514438?dopt=Citation

Vancouver

Gruber R, Elias PM, Crumrine D, Lin T-K, Brandner J, Hachem J-P et al. Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function. AM J PATHOL. 2011;178(5):2252-2263. 5.

Bibtex

@article{b4dd14ff9fce4e7c93e962392c7c2043,
title = "Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function.",
abstract = "Although it is widely accepted that filaggrin (FLG) deficiency contributes to an abnormal barrier function in ichthyosis vulgaris and atopic dermatitis, the pathomechanism of how FLG deficiency provokes a barrier abnormality in humans is unknown. We report here that the presence of FLG mutations in Caucasians predicts dose-dependent alterations in epidermal permeability barrier function. Although FLG is an intracellular protein, the barrier abnormality occurred solely via a paracellular route in affected stratum corneum. Abnormal barrier function correlated with alterations in keratin filament organization (perinuclear retraction), impaired loading of lamellar body contents, followed by nonuniform extracellular distribution of secreted organelle contents, and abnormalities in lamellar bilayer architecture. In addition, we observed reductions in corneodesmosome density and tight junction protein expression. Thus, FLG deficiency provokes alterations in keratinocyte architecture that influence epidermal functions localizing to the extracellular matrix. These results clarify how FLG mutations impair epidermal permeability barrier function.",
keywords = "Adult, Humans, Male, Aged, Female, Middle Aged, Aged, 80 and over, Young Adult, Genotype, Mutation, Reverse Transcriptase Polymerase Chain Reaction, Microscopy, Electron, Transmission, Cell Membrane Permeability/genetics, Extracellular Matrix/pathology, Ichthyosis Vulgaris/*genetics/pathology/*physiopathology, Intermediate Filament Proteins/*genetics, Keratinocytes/*pathology, Skin/*physiopathology, Adult, Humans, Male, Aged, Female, Middle Aged, Aged, 80 and over, Young Adult, Genotype, Mutation, Reverse Transcriptase Polymerase Chain Reaction, Microscopy, Electron, Transmission, Cell Membrane Permeability/genetics, Extracellular Matrix/pathology, Ichthyosis Vulgaris/*genetics/pathology/*physiopathology, Intermediate Filament Proteins/*genetics, Keratinocytes/*pathology, Skin/*physiopathology",
author = "Robert Gruber and Elias, {Peter M} and Debra Crumrine and Tzu-Kai Lin and Johanna Brandner and Jean-Pierre Hachem and Presland, {Richard B} and Philip Fleckman and Janecke, {Andreas R} and Aileen Sandilands and McLean, {W H Irwin} and Fritsch, {Peter O} and Michael Mildner and Erwin Tschachler and Matthias Schmuth",
year = "2011",
language = "English",
volume = "178",
pages = "2252--2263",
journal = "AM J PATHOL",
issn = "0002-9440",
publisher = "Elsevier Inc.",
number = "5",

}

RIS

TY - JOUR

T1 - Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function.

AU - Gruber, Robert

AU - Elias, Peter M

AU - Crumrine, Debra

AU - Lin, Tzu-Kai

AU - Brandner, Johanna

AU - Hachem, Jean-Pierre

AU - Presland, Richard B

AU - Fleckman, Philip

AU - Janecke, Andreas R

AU - Sandilands, Aileen

AU - McLean, W H Irwin

AU - Fritsch, Peter O

AU - Mildner, Michael

AU - Tschachler, Erwin

AU - Schmuth, Matthias

PY - 2011

Y1 - 2011

N2 - Although it is widely accepted that filaggrin (FLG) deficiency contributes to an abnormal barrier function in ichthyosis vulgaris and atopic dermatitis, the pathomechanism of how FLG deficiency provokes a barrier abnormality in humans is unknown. We report here that the presence of FLG mutations in Caucasians predicts dose-dependent alterations in epidermal permeability barrier function. Although FLG is an intracellular protein, the barrier abnormality occurred solely via a paracellular route in affected stratum corneum. Abnormal barrier function correlated with alterations in keratin filament organization (perinuclear retraction), impaired loading of lamellar body contents, followed by nonuniform extracellular distribution of secreted organelle contents, and abnormalities in lamellar bilayer architecture. In addition, we observed reductions in corneodesmosome density and tight junction protein expression. Thus, FLG deficiency provokes alterations in keratinocyte architecture that influence epidermal functions localizing to the extracellular matrix. These results clarify how FLG mutations impair epidermal permeability barrier function.

AB - Although it is widely accepted that filaggrin (FLG) deficiency contributes to an abnormal barrier function in ichthyosis vulgaris and atopic dermatitis, the pathomechanism of how FLG deficiency provokes a barrier abnormality in humans is unknown. We report here that the presence of FLG mutations in Caucasians predicts dose-dependent alterations in epidermal permeability barrier function. Although FLG is an intracellular protein, the barrier abnormality occurred solely via a paracellular route in affected stratum corneum. Abnormal barrier function correlated with alterations in keratin filament organization (perinuclear retraction), impaired loading of lamellar body contents, followed by nonuniform extracellular distribution of secreted organelle contents, and abnormalities in lamellar bilayer architecture. In addition, we observed reductions in corneodesmosome density and tight junction protein expression. Thus, FLG deficiency provokes alterations in keratinocyte architecture that influence epidermal functions localizing to the extracellular matrix. These results clarify how FLG mutations impair epidermal permeability barrier function.

KW - Adult

KW - Humans

KW - Male

KW - Aged

KW - Female

KW - Middle Aged

KW - Aged, 80 and over

KW - Young Adult

KW - Genotype

KW - Mutation

KW - Reverse Transcriptase Polymerase Chain Reaction

KW - Microscopy, Electron, Transmission

KW - Cell Membrane Permeability/genetics

KW - Extracellular Matrix/pathology

KW - Ichthyosis Vulgaris/genetics/pathology/physiopathology

KW - Intermediate Filament Proteins/genetics

KW - Keratinocytes/pathology

KW - Skin/physiopathology

KW - Adult

KW - Humans

KW - Male

KW - Aged

KW - Female

KW - Middle Aged

KW - Aged, 80 and over

KW - Young Adult

KW - Genotype

KW - Mutation

KW - Reverse Transcriptase Polymerase Chain Reaction

KW - Microscopy, Electron, Transmission

KW - Cell Membrane Permeability/genetics

KW - Extracellular Matrix/pathology

KW - Ichthyosis Vulgaris/genetics/pathology/physiopathology

KW - Intermediate Filament Proteins/genetics

KW - Keratinocytes/pathology

KW - Skin/physiopathology

M3 - SCORING: Journal article

VL - 178

SP - 2252

EP - 2263

JO - AM J PATHOL

JF - AM J PATHOL

SN - 0002-9440

IS - 5

M1 - 5

ER -